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CCDC3 coiled-coil domain containing 3 [ Homo sapiens (human) ]

Gene ID: 83643, updated on 22-Aug-2020

Summary

Official Symbol
CCDC3provided by HGNC
Official Full Name
coiled-coil domain containing 3provided by HGNC
Primary source
HGNC:HGNC:23813
See related
Ensembl:ENSG00000151468
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
Expression
Broad expression in skin (RPKM 47.2), fat (RPKM 42.7) and 21 other tissues See more
Orthologs

Genomic context

See CCDC3 in Genome Data Viewer
Location:
10p13
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (12896625..13099989, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (12938625..13141762, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene calcium/calmodulin dependent protein kinase ID Neighboring gene microRNA 4481 Neighboring gene microRNA 548q Neighboring gene uncharacterized LOC105376418 Neighboring gene 10p13 CCDC3 distal Alu-mediated recombination region Neighboring gene RNA, 5S ribosomal pseudogene 300 Neighboring gene 10p13 CCDC3 medial Alu-mediated recombination region Neighboring gene 10p13 CCDC3 proximal Alu-mediated recombination region Neighboring gene 10p13 OPTN distal Alu-mediated recombination region Neighboring gene ribosomal protein L5 pseudogene 25 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 5 Neighboring gene optineurin

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ20925, DKFZp761F241

Gene Ontology Provided by GOA

Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 3
Names
fat/vessel-derived secretory protein
favine

NCBI Reference Sequences (RefSeq)

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_001282658.2NP_001269587.1  coiled-coil domain-containing protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001269587.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL353586, AL355355
    Consensus CDS
    CCDS60484.1
    UniProtKB/Swiss-Prot
    Q9BQI4
    Related
    ENSP00000368116.1, ENST00000378839.1
    Conserved Domains (1) summary
    cl23748
    Location:5394
    DUF3585; Protein of unknown function (DUF3585)
  2. NM_031455.4NP_113643.1  coiled-coil domain-containing protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_113643.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL353586, AL355355
    Consensus CDS
    CCDS7093.1
    UniProtKB/Swiss-Prot
    Q9BQI4
    Related
    ENSP00000368102.3, ENST00000378825.5
    Conserved Domains (1) summary
    cl23748
    Location:178219
    DUF3585; Protein of unknown function (DUF3585)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    12896625..13099989 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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