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

Gene ID: 493860, updated on 5-Mar-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
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Genomic context

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Location:
11p13
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (32602721..32830585, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (32738233..32965867, complement)
105.20220307 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
  • 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. Immunomic analysis of human sarcoma. Lee SY, et al. Proc Natl Acad Sci U S A, 2003 Mar 4. PMID 12601173, Free PMC Article
  2. 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
  3. 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
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
  5. 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

See all (6) 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_2023_10

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

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