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    DOCK1 dedicator of cytokinesis 1 [ Homo sapiens (human) ]

    Gene ID: 1793, updated on 2-Nov-2024

    Summary

    Official Symbol
    DOCK1provided by HGNC
    Official Full Name
    dedicator of cytokinesis 1provided by HGNC
    Primary source
    HGNC:HGNC:2987
    See related
    Ensembl:ENSG00000150760 MIM:601403; AllianceGenome:HGNC:2987
    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
    ced5; DOCK180
    Summary
    This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.9), skin (RPKM 10.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DOCK1 in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (126905428..127452516)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (127789114..128347493)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (128593997..129250780)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD60 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:128581076-128581576 Neighboring gene uncharacterized LOC105378550 Neighboring gene uncharacterized LOC124900289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:128595018-128595766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:128599458-128599958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:128599959-128600459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:128608337-128608885 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:128798279-128799478 Neighboring gene uncharacterized LOC107984059 Neighboring gene uncharacterized LOC105378552 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:128868600-128869799 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:128936224-128937423 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:128946487-128947686 Neighboring gene inhibitory synaptic factor 2A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:129078632-129079159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4196 Neighboring gene uncharacterized LOC105378551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:129190073-129190574 Neighboring gene uncharacterized LOC124902524 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:129262060-129262560 Neighboring gene neuropeptide S Neighboring gene forkhead box I2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
    EBI GWAS Catalog
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of guanyl-nucleotide exchange factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    dedicator of cytokinesis protein 1
    Names
    180 kDa protein downstream of CRK
    DOwnstream of CrK

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_033919.3 RefSeqGene

      Range
      5002..552090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001290223.2NP_001277152.2  dedicator of cytokinesis protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      Consensus CDS
      CCDS76359.1
      UniProtKB/TrEMBL
      A0A096LNH6, A0A2X0U2H5
      Related
      ENSP00000485033.1, ENST00000623213.2
    2. NM_001377543.1NP_001364472.1  dedicator of cytokinesis protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:424619
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72416
      DOCK_N; DOCK N-terminus
      cl06123
      Location:12141666
      DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
    3. NM_001377544.1NP_001364473.1  dedicator of cytokinesis protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:436631
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:12261624
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      pfam16172
      Location:84428
      DOCK_N; DOCK N-terminus
      cl17036
      Location:1380
      SH3; Src Homology 3 domain superfamily
    4. NM_001377546.1NP_001364475.1  dedicator of cytokinesis protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:445640
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72437
      DOCK_N; DOCK N-terminus
      cl06123
      Location:12351593
      DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
    5. NM_001377547.1NP_001364476.1  dedicator of cytokinesis protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:403598
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:11931591
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72417
      DOCK_N; DOCK N-terminus
    6. NM_001377548.1NP_001364477.1  dedicator of cytokinesis protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:396591
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:11861584
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      pfam16172
      Location:44388
      DOCK_N; DOCK N-terminus
      cl17036
      Location:1640
      SH3; Src Homology 3 domain superfamily
    7. NM_001377550.1NP_001364479.1  dedicator of cytokinesis protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd11707
      Location:11811579
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72416
      DOCK_N; DOCK N-terminus
      cl14603
      Location:424586
      C2; C2 domain
    8. NM_001377553.1NP_001364482.1  dedicator of cytokinesis protein 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:424619
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72416
      DOCK_N; DOCK N-terminus
      cl06123
      Location:12141572
      DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
    9. NM_001377554.1NP_001364483.1  dedicator of cytokinesis protein 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:373568
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:11631561
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72365
      DOCK_N; DOCK N-terminus
    10. NM_001377556.1NP_001364485.1  dedicator of cytokinesis protein 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:424619
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72416
      DOCK_N; DOCK N-terminus
      cl06123
      Location:12141547
      DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
    11. NM_001377558.1NP_001364487.1  dedicator of cytokinesis protein 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:373568
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:11451543
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72365
      DOCK_N; DOCK N-terminus
    12. NM_001377560.1NP_001364489.1  dedicator of cytokinesis protein 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:160355
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:9501348
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      pfam16172
      Location:44152
      DOCK_N; DOCK N-terminus
      cl17036
      Location:1343
      SH3; Src Homology 3 domain superfamily
    13. NM_001377561.1NP_001364490.1  dedicator of cytokinesis protein 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL359094, AL390920, AL607029, BX470155, BX470201
      Conserved Domains (3) summary
      cd08694
      Location:445640
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72437
      DOCK_N; DOCK N-terminus
    14. NM_001380.5NP_001371.2  dedicator of cytokinesis protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157711, AL355316, AL359094, AL390920, AL607029, BX470155, BX470201
      Consensus CDS
      CCDS73222.1
      UniProtKB/Swiss-Prot
      A9Z1Z5, Q14185
      UniProtKB/TrEMBL
      A0A2X0U2H5
      Related
      ENSP00000280333.6, ENST00000280333.9
      Conserved Domains (4) summary
      cd08694
      Location:424619
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:12141612
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      cd12051
      Location:1368
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:72416
      DOCK_N; DOCK N-terminus

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      126905428..127452516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424701.1XP_047280657.1  dedicator of cytokinesis protein 1 isoform X6

    2. XM_047424703.1XP_047280659.1  dedicator of cytokinesis protein 1 isoform X9

    3. XM_017015813.3XP_016871302.1  dedicator of cytokinesis protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A2X0U2H5
    4. XM_011539422.4XP_011537724.1  dedicator of cytokinesis protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:467662
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:12571655
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      cd12051
      Location:3790
      SH3_DOCK1_5_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis proteins 1 and 5
      pfam16172
      Location:94459
      DOCK_N; DOCK N-terminus
    5. XM_017015814.2XP_016871303.1  dedicator of cytokinesis protein 1 isoform X4

    6. XM_047424700.1XP_047280656.1  dedicator of cytokinesis protein 1 isoform X5

    7. XM_017015817.1XP_016871306.1  dedicator of cytokinesis protein 1 isoform X7

    8. XM_047424702.1XP_047280658.1  dedicator of cytokinesis protein 1 isoform X8

    9. XM_011539424.2XP_011537726.1  dedicator of cytokinesis protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A2X0U2H5
      Conserved Domains (4) summary
      cd08694
      Location:439634
      C2_Dock-A; C2 domains found in Dedicator Of CytoKinesis (Dock) class A proteins
      cd11707
      Location:12291627
      DHR2_DOCK1; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 1
      pfam16172
      Location:66431
      DOCK_N; DOCK N-terminus
      cl17036
      Location:962
      SH3; Src Homology 3 domain superfamily

    RNA

    1. XR_007061946.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      127789114..128347493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364961.1XP_054220936.1  dedicator of cytokinesis protein 1 isoform X6

    2. XM_054364964.1XP_054220939.1  dedicator of cytokinesis protein 1 isoform X9

    3. XM_054364957.1XP_054220932.1  dedicator of cytokinesis protein 1 isoform X2

    4. XM_054364956.1XP_054220931.1  dedicator of cytokinesis protein 1 isoform X1

    5. XM_054364959.1XP_054220934.1  dedicator of cytokinesis protein 1 isoform X4

    6. XM_054364960.1XP_054220935.1  dedicator of cytokinesis protein 1 isoform X5

    7. XM_054364962.1XP_054220937.1  dedicator of cytokinesis protein 1 isoform X7

    8. XM_054364963.1XP_054220938.1  dedicator of cytokinesis protein 1 isoform X8

    9. XM_054364958.1XP_054220933.1  dedicator of cytokinesis protein 1 isoform X3

    RNA

    1. XR_008488170.1 RNA Sequence