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    CCDC73 coiled-coil domain containing 73 [ Homo sapiens (human) ]

    Gene ID: 493860, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CCDC73provided by HGNC
    Official Full Name
    coiled-coil domain containing 73provided by HGNC
    Primary source
    HGNC:HGNC:23261
    See related
    Ensembl:ENSG00000186714 MIM:612328; AllianceGenome:HGNC:23261
    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
    NY-SAR-79
    Expression
    Ubiquitous expression in testis (RPKM 4.3), ovary (RPKM 3.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC73 in Genome Data Viewer
    Location:
    11p13
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (32602721..32830585, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (32738233..32965867, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (32624267..32816208, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene WT1/WT1-AS bi-directional promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:32459559-32460416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:32460417-32461272 Neighboring gene Sharpr-MPRA regulatory region 1868 Neighboring gene WT1 transcription factor Neighboring gene MPRA-validated peak1243 silencer Neighboring gene WT1 antisense RNA Neighboring gene MPRA-validated peak1244 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4564 Neighboring gene MPRA-validated peak1246 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:32605088-32605740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3223 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 9 Neighboring gene eukaryotic translation initiation factor 3 subunit M Neighboring gene 60S ribosomal protein L34-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3224 Neighboring gene ribosomal protein L34 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:32912708-32913282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3227 Neighboring gene proline rich and Gla domain 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4568 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:32968504-32968654 Neighboring gene glutamine and serine rich 1 Neighboring gene uncharacterized LOC105376615 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:33022947-33023448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3230 Neighboring gene DEP domain containing 7

    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 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. The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice. Khan M, et al. Sci Rep, 2018 Mar 21. PMID 29563520, Free PMC Article
    2. Immunomic analysis of human sarcoma. Lee SY, et al. Proc Natl Acad Sci U S A, 2003 Mar 4. PMID 12601173, Free PMC Article
    3. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. Uhl GR, et al. Arch Gen Psychiatry, 2008 Jun. PMID 18519826, Free PMC Article
    4. Circular RNA FOXP1 promotes tumor progression and Warburg effect in gallbladder cancer by regulating PKLR expression. Wang S, et al. Mol Cancer, 2019 Oct 17. PMID 31623628, Free PMC Article
    5. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. Johnson-Kerner BL, et al. PLoS One, 2015. PMID 26460568, Free PMC Article

    See all (10) 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.
    2. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 73
    Names
    sarcoma antigen NY-SAR-79

    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.

    mRNA and Protein(s)

    1. NM_001008391.4 → NP_001008392.2  coiled-coil domain-containing protein 73

      See identical proteins and their annotated locations for NP_001008392.2

      Status: VALIDATED

      Source sequence(s)
      AL035400, AL049714, AL078477, AL096793
      Consensus CDS
      CCDS41630.1
      UniProtKB/Swiss-Prot
      Q6P5Q7, Q6ZMW0, Q6ZRK6, Q86WE7
      Related
      ENSP00000335325.5, ENST00000335185.10
      Conserved Domains (2) summary
      pfam15818
      Location:27 → 1070
      CCDC73; Coiled-coil domain-containing protein 73 family
      cl12013
      Location:47 → 220
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      32602721..32830585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427029.1 → XP_047282985.1  coiled-coil domain-containing protein 73 isoform X1

      UniProtKB/Swiss-Prot
      Q6P5Q7, Q6ZMW0, Q6ZRK6, Q86WE7

    2. XM_047427030.1 → XP_047282986.1  coiled-coil domain-containing protein 73 isoform X1

      UniProtKB/Swiss-Prot
      Q6P5Q7, Q6ZMW0, Q6ZRK6, Q86WE7

    3. XM_047427031.1 → XP_047282987.1  coiled-coil domain-containing protein 73 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      32738233..32965867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368972.1 → XP_054224947.1  coiled-coil domain-containing protein 73 isoform X1

      UniProtKB/Swiss-Prot
      Q6P5Q7, Q6ZMW0, Q6ZRK6, Q86WE7

    2. XM_054368973.1 → XP_054224948.1  coiled-coil domain-containing protein 73 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRK6.2 GenPept UniProtKB/Swiss-Prot:Q6ZRK6

    Gene LinkOut

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

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