U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    MCF2L MCF.2 cell line derived transforming sequence like [ Homo sapiens (human) ]

    Gene ID: 23263, updated on 14-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MCF2Lprovided by HGNC
    Official Full Name
    MCF.2 cell line derived transforming sequence likeprovided by HGNC
    Primary source
    HGNC:HGNC:14576
    See related
    Ensembl:ENSG00000126217 MIM:609499; AllianceGenome:HGNC:14576
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DBS; OST; ARHGEF14
    Summary
    This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in fat (RPKM 8.1), brain (RPKM 8.0) and 22 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MCF2L in Genome Data Viewer
    Location:
    13q34
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (112894335..113099742)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112144372..112351082)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113623528..113754056)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATPase phospholipid transporting 11A Neighboring gene uncharacterized LOC124903253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113430716-113431329 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113432945-113433094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113434144-113435009 Neighboring gene uncharacterized LOC124903252 Neighboring gene NANOG hESC enhancer GRCh37_chr13:113444396-113445115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113460948-113461629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113462993-113463672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113505150-113505650 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113526644-113527843 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113529546-113529735 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113533651 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113534907 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113536132 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113537448 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113539894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113540393-113540968 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113543499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113546091-113546840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113552283-113552788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113556232-113557108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113557109-113557983 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113559740-113560614 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113560615-113561488 Neighboring gene uncharacterized LOC124903214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113583655-113584497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5536 Neighboring gene Sharpr-MPRA regulatory region 2656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113607452-113608169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113610492-113611232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113611233-113611972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113611973-113612713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113615435-113616158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113617605-113618326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113622683-113623202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5537 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113632813-113633750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113635625-113636560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113639843-113640840 Neighboring gene MCF2L antisense RNA 1 Neighboring gene uncharacterized LOC107984591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113668429-113668957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113676327-113676961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113676962-113677597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113681619-113682120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113682121-113682620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113684208-113684732 Neighboring gene Sharpr-MPRA regulatory region 5526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113695415-113696161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113704798-113705384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113744195-113744700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113746783-113747284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113747285-113747784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113750605-113751105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113783538-113784264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113784265-113784991 Neighboring gene F10 antisense RNA 1 Neighboring gene coagulation factor VII Neighboring gene coagulation factor X

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. LncRNA MCF2L-AS1 aggravates the malignant development of colorectal cancer via targeting miR-105-5p/RAB22A axis. Kong W, et al. BMC Cancer, 2021 Sep 30. PMID 34592939, Free PMC Article
    2. The rho-specific guanine nucleotide exchange factor Dbs regulates breast cancer cell migration. Liu Z, et al. J Biol Chem, 2009 Jun 5. PMID 19366686, Free PMC Article
    3. RhoGEF specificity mutants implicate RhoA as a target for Dbs transforming activity. Cheng L, et al. Mol Cell Biol, 2002 Oct. PMID 12215546, Free PMC Article
    4. Regulation of vesicle transport and cell motility by Golgi-localized Dbs. Fitzpatrick ER, et al. Small GTPases, 2014. PMID 25483302, Free PMC Article
    5. A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis. Maiwald S, et al. Eur J Hum Genet, 2016 Jan. PMID 25898923, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA MCF2L-AS1 aggravates the malignant development of colorectal cancer via targeting miR-105-5p/RAB22A axis.
      Title: LncRNA MCF2L-AS1 aggravates the malignant development of colorectal cancer via targeting miR-105-5p/RAB22A axis.
    2. miR-140-3p exhibits repressive functions on preosteoblast viability and differentiation by downregulating MCF2L in osteoporosis.
      Title: miR-140-3p exhibits repressive functions on preosteoblast viability and differentiation by downregulating MCF2L in osteoporosis.
    3. When compared to the gemcitabine-sensitive cells, the gemcitabine-resistant cells had a higher level of MCF2L expression, suggesting that MCF2L plays an important role in gemcitabine resistance
      Title: Establishment of a human primary pancreatic cancer mouse model to examine and investigate gemcitabine resistance.
    4. A rare variant in MCF2L has been identified using exclusion linkage in a pedigree with premature atherosclerosis.
      Title: A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.
    5. MCF2L is subject to a cis-acting eQTL in synovial membrane that correlates with the OA association signal. This signal contains several functional SNPs that could account for the susceptibility and which therefore merit further investigation
      Title: Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.
    6. In conclusion, we find that GDF5, but not COG5 or MCF2L, influence the extent of radiographic damage in knee osteoarthritis
      Title: Genetic contribution to radiographic severity in osteoarthritis of the knee.
    7. A single nucleotide polymorphism in MCF2L is associated with osteoarthritis.
      Title: A variant in MCF2L is associated with osteoarthritis.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutation of ARHGAP9 in patients with coronary spastic angina.
    10. the guanine nucleotide exchange factor Ost has a role in negative regulation of receptor endocytosis by the small GTPase Rac1
      Title: Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A variant in MCF2L is associated with osteoarthritis.
    EBI GWAS Catalog
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ12122, KIAA0362

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endomembrane system IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in extrinsic component of cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    guanine nucleotide exchange factor DBS
    Names
    DBL's big sister
    MCF2 transforming sequence-like protein

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001112732.3 → NP_001106203.2  guanine nucleotide exchange factor DBS isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK295670, AL137002, AL356740, AW241629
      Consensus CDS
      CCDS45070.2
      UniProtKB/TrEMBL
      H7C275
      Related
      ENSP00000440374.2, ENST00000535094.7
      Conserved Domains (6) summary
      cd11857
      Location:1029 → 1082
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:46 → 191
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:602 → 779
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:322 → 509
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:786 → 917
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:800 → 914
      PH; PH domain

    2. NM_001320815.2 → NP_001307744.1  guanine nucleotide exchange factor DBS isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (c) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AK295047, AL137002, AL162454, AW241629, DA348090, DB476653
      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1052 → 1105
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:44 → 189
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:600 → 777
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:320 → 507
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:784 → 915
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:798 → 912
      PH; PH domain

    3. NM_001320816.2 → NP_001307745.1  guanine nucleotide exchange factor DBS isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (d) with a distinct and shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AB116074, AK295047, AL137002, AW241629, DB276568
      UniProtKB/TrEMBL
      H7C275
      Related
      ENSP00000397285.1, ENST00000421756.5
      Conserved Domains (6) summary
      cd11857
      Location:1033 → 1086
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:50 → 195
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:606 → 783
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:326 → 513
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:790 → 921
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:804 → 918
      PH; PH domain

    4. NM_001320817.2 → NP_001307746.1  guanine nucleotide exchange factor DBS isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains differences in the both UTRs and both the 5' and 3' coding regions, compared to variant 1. The resulting isoform (e) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AK295047, BC020208, DB476653
      Consensus CDS
      CCDS81782.1
      UniProtKB/TrEMBL
      A0A994J4L8
      Related
      ENSP00000364747.4, ENST00000375597.8
      Conserved Domains (4) summary
      smart00516
      Location:44 → 189
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:600 → 777
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:320 → 507
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:784 → 915
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain

    5. NM_001366644.2 → NP_001353573.1  guanine nucleotide exchange factor DBS isoform f

      Status: REVIEWED

      Source sequence(s)
      AL137002, AL162454, AL356740, AL596093
      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (5) summary
      cd11857
      Location:1000 → 1053
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:17 → 162
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:573 → 750
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:293 → 480
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:757 → 888
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain

    6. NM_001366645.2 → NP_001353574.1  guanine nucleotide exchange factor DBS isoform g

      Status: REVIEWED

      Source sequence(s)
      AL137002, AL162454, AL596093
      UniProtKB/TrEMBL
      H7C275

    7. NM_001366646.2 → NP_001353575.1  guanine nucleotide exchange factor DBS isoform h

      Status: REVIEWED

      Source sequence(s)
      AL137002, AL162454, AL596093
      UniProtKB/TrEMBL
      H7C275

    8. NM_024979.4 → NP_079255.4  guanine nucleotide exchange factor DBS isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) with a distinct and shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AK295047, AL137002, AL162454, AW241629, DB476653
      Consensus CDS
      CCDS9527.3
      UniProtKB/TrEMBL
      H7C275
      Related
      ENSP00000364754.3, ENST00000375604.6
      Conserved Domains (6) summary
      cd11857
      Location:1027 → 1080
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:44 → 189
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:600 → 777
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:320 → 507
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:784 → 915
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:798 → 912
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      112894335..113099742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537482.2 → XP_011535784.1  guanine nucleotide exchange factor DBS isoform X2

      See identical proteins and their annotated locations for XP_011535784.1

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1115 → 1168
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:76 → 221
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:632 → 809
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:352 → 563
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:816 → 947
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:830 → 944
      PH; PH domain

    2. XM_047430220.1 → XP_047286176.1  guanine nucleotide exchange factor DBS isoform X8

    3. XM_047430221.1 → XP_047286177.1  guanine nucleotide exchange factor DBS isoform X11

      Related
      ENSP00000364758.3, ENST00000375608.7

    4. XM_047430226.1 → XP_047286182.1  guanine nucleotide exchange factor DBS isoform X18

    5. XM_011537483.3 → XP_011535785.1  guanine nucleotide exchange factor DBS isoform X2

      See identical proteins and their annotated locations for XP_011535785.1

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1115 → 1168
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:76 → 221
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:632 → 809
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:352 → 563
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:816 → 947
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:830 → 944
      PH; PH domain

    6. XM_047430222.1 → XP_047286178.1  guanine nucleotide exchange factor DBS isoform X11

    7. XM_011537486.3 → XP_011535788.3  guanine nucleotide exchange factor DBS isoform X1

    8. XM_017020493.2 → XP_016875982.2  guanine nucleotide exchange factor DBS isoform X3

    9. XM_017020495.2 → XP_016875984.2  guanine nucleotide exchange factor DBS isoform X6

      Related
      ENSP00000380225.1, ENST00000397030.5

    10. XM_017020499.3 → XP_016875988.2  guanine nucleotide exchange factor DBS isoform X17

    11. XM_011537485.2 → XP_011535787.1  guanine nucleotide exchange factor DBS isoform X7

      UniProtKB/TrEMBL
      H0Y4M6, H7C275
      Related
      ENSP00000392953.2, ENST00000453297.6
      Conserved Domains (6) summary
      cd11857
      Location:1085 → 1138
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:46 → 191
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:602 → 779
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:322 → 509
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:786 → 917
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:800 → 914
      PH; PH domain

    12. XM_047430223.1 → XP_047286179.1  guanine nucleotide exchange factor DBS isoform X14

      Related
      ENSP00000404422.2, ENST00000420013.6

    13. XM_011537488.2 → XP_011535790.1  guanine nucleotide exchange factor DBS isoform X10

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1067 → 1120
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:28 → 173
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:584 → 761
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:304 → 491
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:768 → 899
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:782 → 896
      PH; PH domain

    14. XM_011537490.2 → XP_011535792.1  guanine nucleotide exchange factor DBS isoform X12

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1056 → 1109
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:17 → 162
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:573 → 750
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:293 → 480
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:757 → 888
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:771 → 885
      PH; PH domain

    15. XM_011537484.2 → XP_011535786.1  guanine nucleotide exchange factor DBS isoform X5

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1089 → 1142
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:50 → 195
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:606 → 783
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:326 → 513
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:790 → 921
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:804 → 918
      PH; PH domain

    16. XM_017020494.2 → XP_016875983.1  guanine nucleotide exchange factor DBS isoform X4

      UniProtKB/TrEMBL
      H7C275

    17. XM_047430224.1 → XP_047286180.1  guanine nucleotide exchange factor DBS isoform X15

    18. XM_011537487.2 → XP_011535789.1  guanine nucleotide exchange factor DBS isoform X9

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1083 → 1136
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:44 → 189
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:600 → 777
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:320 → 507
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:784 → 915
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:798 → 912
      PH; PH domain

    19. XM_047430225.1 → XP_047286181.1  guanine nucleotide exchange factor DBS isoform X16

    20. XM_011537491.2 → XP_011535793.1  guanine nucleotide exchange factor DBS isoform X13

      UniProtKB/TrEMBL
      H7C275
      Conserved Domains (6) summary
      cd11857
      Location:1047 → 1100
      SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor
      smart00516
      Location:62 → 153
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      cd00160
      Location:564 → 741
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00176
      Location:284 → 471
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd01227
      Location:748 → 879
      PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
      pfam00169
      Location:762 → 876
      PH; PH domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      112144372..112351082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374335.1 → XP_054230310.1  guanine nucleotide exchange factor DBS isoform X11

    2. XM_054374324.1 → XP_054230299.1  guanine nucleotide exchange factor DBS isoform X2

    3. XM_054374331.1 → XP_054230306.1  guanine nucleotide exchange factor DBS isoform X8

    4. XM_054374342.1 → XP_054230317.1  guanine nucleotide exchange factor DBS isoform X18

    5. XM_054374325.1 → XP_054230300.1  guanine nucleotide exchange factor DBS isoform X2

    6. XM_054374334.1 → XP_054230309.1  guanine nucleotide exchange factor DBS isoform X11

    7. XM_054374323.1 → XP_054230298.1  guanine nucleotide exchange factor DBS isoform X19

    8. XM_054374326.1 → XP_054230301.1  guanine nucleotide exchange factor DBS isoform X20

    9. XM_054374329.1 → XP_054230304.1  guanine nucleotide exchange factor DBS isoform X21

    10. XM_054374341.1 → XP_054230316.1  guanine nucleotide exchange factor DBS isoform X22

    11. XM_054374330.1 → XP_054230305.1  guanine nucleotide exchange factor DBS isoform X7

      UniProtKB/TrEMBL
      H0Y4M6

    12. XM_054374338.1 → XP_054230313.1  guanine nucleotide exchange factor DBS isoform X14

    13. XM_054374333.1 → XP_054230308.1  guanine nucleotide exchange factor DBS isoform X10

    14. XM_054374336.1 → XP_054230311.1  guanine nucleotide exchange factor DBS isoform X12

    15. XM_054374328.1 → XP_054230303.1  guanine nucleotide exchange factor DBS isoform X5

    16. XM_054374327.1 → XP_054230302.1  guanine nucleotide exchange factor DBS isoform X4

    17. XM_054374339.1 → XP_054230314.1  guanine nucleotide exchange factor DBS isoform X15

    18. XM_054374332.1 → XP_054230307.1  guanine nucleotide exchange factor DBS isoform X9

    19. XM_054374340.1 → XP_054230315.1  guanine nucleotide exchange factor DBS isoform X16

    20. XM_054374337.1 → XP_054230312.1  guanine nucleotide exchange factor DBS isoform X13

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15068.2 GenPept UniProtKB/Swiss-Prot:O15068

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous