U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CCDC107 coiled-coil domain containing 107 [ Homo sapiens (human) ]

Gene ID: 203260, updated on 27-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
CCDC107provided by HGNC
Official Full Name
coiled-coil domain containing 107provided by HGNC
Primary source
HGNC:HGNC:28465
See related
Ensembl:ENSG00000159884 AllianceGenome:HGNC:28465
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
PSEC0222
Summary
This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in fat (RPKM 29.1), adrenal (RPKM 11.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CCDC107 in Genome Data Viewer
Location:
9p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35658292..35661511)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35678944..35682163)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35658289..35661508)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19870 Neighboring gene signaling threshold regulating transmembrane adaptor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35657053-35657561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35657562-35658069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19871 Neighboring gene Rho guanine nucleotide exchange factor 39 Neighboring gene RNA component of mitochondrial RNA processing endoribonuclease Neighboring gene Sharpr-MPRA regulatory region 3743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19872 Neighboring gene RNA, 7SL, cytoplasmic 22, pseudogene Neighboring gene carbonic anhydrase 9

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis. Ghanizade P, et al. Nucleosides Nucleotides Nucleic Acids, 2021. PMID 34669559
  2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
  3. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Lim J, et al. Cell, 2006 May 19. PMID 16713569
  4. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis.
    Title: Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Clone Names

  • FLJ97171, MGC31967

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
coiled-coil domain-containing protein 107

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_033120.1 RefSeqGene

    Range
    5003..8222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195200.2 → NP_001182129.1  coiled-coil domain-containing protein 107 isoform B precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) lacks an in-frame segment in the 3' coding region, compared to variant A. This results in a shorter protein (isoform B), compared to isoform A.
    Source sequence(s)
    AL357874, BE903559, BM973388, DC410699
    Consensus CDS
    CCDS56573.1
    UniProtKB/Swiss-Prot
    Q8WV48
    Related
    ENSP00000367665.3, ENST00000378409.7

  2. NM_001195201.2 → NP_001182130.1  coiled-coil domain-containing protein 107 isoform C precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) uses an alternate splice site and lacks an in-frame segment in the 3' region, compared to variant A. The usage of the alternate splice site results in a frameshift, and the encoded isoform (C) has a shorter and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AL357874, BC051285, BM973388, DC410699
    Consensus CDS
    CCDS56574.1
    UniProtKB/TrEMBL
    X6R9Y9
    Related
    ENSP00000330327.2, ENST00000327351.6

  3. NM_001195217.2 → NP_001182146.1  coiled-coil domain-containing protein 107 isoform D precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant A. It encodes isoform D, which has a shorter and distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK075523, AL357874, BM973388, DC410699
    Consensus CDS
    CCDS56575.1
    UniProtKB/TrEMBL
    X6R9Y9
    Related
    ENSP00000367662.3, ENST00000378407.7

  4. NM_174923.3 → NP_777583.2  coiled-coil domain-containing protein 107 isoform A precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longest transcript and encodes the longest isoform (A).
    Source sequence(s)
    AL357874, BC018758, BM973388, DC410699
    Consensus CDS
    CCDS6583.1
    UniProtKB/Swiss-Prot
    A6XND6, Q5T4R5, Q5T4R8, Q5T4R9, Q86VB6, Q8N2E4, Q8WV48
    Related
    ENSP00000414964.2, ENST00000426546.7

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    35658292..35661511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251403.6 → XP_005251460.1  coiled-coil domain-containing protein 107 isoform X1

    UniProtKB/TrEMBL
    X6R9Y9
    Related
    ENSP00000367661.1, ENST00000378406.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    35678944..35682163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362299.1 → XP_054218274.1  coiled-coil domain-containing protein 107 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WV48.2 GenPept UniProtKB/Swiss-Prot:Q8WV48

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools