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    KIAA1755 KIAA1755 [ Homo sapiens (human) ]

    Gene ID: 85449, updated on 26-Nov-2024

    Summary

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    Official Symbol
    KIAA1755provided by HGNC
    Official Full Name
    KIAA1755provided by HGNC
    Primary source
    HGNC:HGNC:29372
    See related
    Ensembl:ENSG00000149633 AllianceGenome:HGNC:29372
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    quo
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in axon guidance. Predicted to be active in cytoplasm and plasma membrane. Predicted to be extrinsic component of membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 4.2), gall bladder (RPKM 3.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIAA1755 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38210503..38260735, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39936620..39986885, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36838905..36889137, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904899 Neighboring gene Sharpr-MPRA regulatory region 2618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36740455-36740954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36770637-36771306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36771307-36771975 Neighboring gene transglutaminase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12897 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:36845917-36847116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36847531-36848032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36874844-36875344 Neighboring gene uncharacterized LOC124904900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36881371-36881963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36888895-36889394 Neighboring gene uncharacterized LOC149684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36915021-36915522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36926779-36927294 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:36962737-36963936 Neighboring gene bactericidal permeability increasing protein Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36970603-36971380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36972161-36972938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36982312-36982872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36982873-36983432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:36986777-36987278 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:36991245-36991414 Neighboring gene lipopolysaccharide binding protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Translating GWAS-identified loci for cardiac rhythm and rate using an in vivo image- and CRISPR/Cas9-based approach. von der Heyde B, et al. Sci Rep, 2020 Jul 16. PMID 32678143, Free PMC Article
    2. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. den Hoed M, et al. Nat Genet, 2013 Jun. PMID 23583979, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    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
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon guidance 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
    		  
    is_active_in extrinsic component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein KIAA1755
    Names
    RP5-1054A22.3
    quattro homolog

    NCBI Reference Sequences (RefSeq)

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    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_053038.1 RefSeqGene

      Range
      5038..55270
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001029864.2 → NP_001025035.1  uncharacterized protein KIAA1755 isoform a

      See identical proteins and their annotated locations for NP_001025035.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL031651
      Consensus CDS
      CCDS33467.1
      UniProtKB/Swiss-Prot
      Q5JYT7, Q9C0A8
      Related
      ENSP00000279024.4, ENST00000279024.9
      Conserved Domains (1) summary
      pfam15450
      Location:675 → 1043
      CCDC154; Coiled-coil domain-containing protein 154

    2. NM_001348708.2 → NP_001335637.1  uncharacterized protein KIAA1755 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL031651

    RNA

    1. NR_145960.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three alternate exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL031651

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38210503..38260735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452013.2 → XP_024307781.1  uncharacterized protein KIAA1755 isoform X8

      Conserved Domains (1) summary
      pfam15450
      Location:328 → 679
      CCDC154; Coiled-coil domain-containing protein 154

    2. XM_024452012.2 → XP_024307780.1  uncharacterized protein KIAA1755 isoform X6

      Conserved Domains (1) summary
      pfam15450
      Location:394 → 745
      CCDC154; Coiled-coil domain-containing protein 154

    3. XM_024452008.2 → XP_024307776.1  uncharacterized protein KIAA1755 isoform X1

      Conserved Domains (1) summary
      pfam15450
      Location:662 → 1030
      CCDC154; Coiled-coil domain-containing protein 154

    4. XM_024452010.2 → XP_024307778.1  uncharacterized protein KIAA1755 isoform X3

    5. XM_024452009.2 → XP_024307777.1  uncharacterized protein KIAA1755 isoform X2

    6. XM_047440570.1 → XP_047296526.1  uncharacterized protein KIAA1755 isoform X5

    7. XM_024452011.2 → XP_024307779.1  uncharacterized protein KIAA1755 isoform X4

    8. XM_047440575.1 → XP_047296531.1  uncharacterized protein KIAA1755 isoform X12

    9. XM_047440572.1 → XP_047296528.1  uncharacterized protein KIAA1755 isoform X9

    10. XM_047440571.1 → XP_047296527.1  uncharacterized protein KIAA1755 isoform X7

    11. XM_047440574.1 → XP_047296530.1  uncharacterized protein KIAA1755 isoform X11

    12. XM_047440573.1 → XP_047296529.1  uncharacterized protein KIAA1755 isoform X10

    13. XM_024452015.2 → XP_024307783.1  uncharacterized protein KIAA1755 isoform X14

      UniProtKB/TrEMBL
      A0A087X0C1
      Related
      ENSP00000483264.1, ENST00000496900.2

    14. XM_024452014.2 → XP_024307782.1  uncharacterized protein KIAA1755 isoform X13

      UniProtKB/TrEMBL
      A0A087X0C1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      39936620..39986885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324184.1 → XP_054180159.1  uncharacterized protein KIAA1755 isoform X8

    2. XM_054324182.1 → XP_054180157.1  uncharacterized protein KIAA1755 isoform X6

    3. XM_054324177.1 → XP_054180152.1  uncharacterized protein KIAA1755 isoform X1

    4. XM_054324179.1 → XP_054180154.1  uncharacterized protein KIAA1755 isoform X3

    5. XM_054324178.1 → XP_054180153.1  uncharacterized protein KIAA1755 isoform X2

    6. XM_054324181.1 → XP_054180156.1  uncharacterized protein KIAA1755 isoform X5

    7. XM_054324180.1 → XP_054180155.1  uncharacterized protein KIAA1755 isoform X4

    8. XM_054324188.1 → XP_054180163.1  uncharacterized protein KIAA1755 isoform X12

    9. XM_054324185.1 → XP_054180160.1  uncharacterized protein KIAA1755 isoform X9

    10. XM_054324183.1 → XP_054180158.1  uncharacterized protein KIAA1755 isoform X7

    11. XM_054324187.1 → XP_054180162.1  uncharacterized protein KIAA1755 isoform X11

    12. XM_054324186.1 → XP_054180161.1  uncharacterized protein KIAA1755 isoform X10

    13. XM_054324190.1 → XP_054180165.1  uncharacterized protein KIAA1755 isoform X14

    14. XM_054324189.1 → XP_054180164.1  uncharacterized protein KIAA1755 isoform X13

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JYT7.2 GenPept UniProtKB/Swiss-Prot:Q5JYT7

    Gene LinkOut

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

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