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CCDC134 coiled-coil domain containing 134 [ Homo sapiens (human) ]

Gene ID: 79879, updated on 1-Aug-2020

Summary

Official Symbol
CCDC134provided by HGNC
Official Full Name
coiled-coil domain containing 134provided by HGNC
Primary source
HGNC:HGNC:26185
See related
Ensembl:ENSG00000100147 MIM:618788
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
Ubiquitous expression in adrenal (RPKM 4.9), bone marrow (RPKM 4.2) and 24 other tissues See more
Orthologs

Genomic context

See CCDC134 in Genome Data Viewer
Location:
22q13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41800679..41832164)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42196636..42228175)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene10 Neighboring gene meiotic double-stranded break formation protein 1 Neighboring gene RNA, U6atac small nuclear 22, pseudogene Neighboring gene SREBF2 antisense RNA 1 Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene microRNA 33a Neighboring gene shisa family member 8

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of coiled-coil domain containing 134 (CCDC134) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22349, MGC21013

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
embryonic liver development IEA
Inferred from Electronic Annotation
more info
 
placenta development IEA
Inferred from Electronic Annotation
more info
 
ventricular system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 134

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.

Genomic

  1. NG_068430.1 RefSeqGene

    Range
    5001..36486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304797.2NP_001291726.1  coiled-coil domain-containing protein 134 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks three alternate exons, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK299311, AL021453, CB240942, HY013338
    Consensus CDS
    CCDS77680.1
    UniProtKB/TrEMBL
    B0QY51, B4DRL0
    Related
    ENSP00000385803.3, ENST00000402061.7
    Conserved Domains (1) summary
    pfam15002
    Location:2977
    ERK-JNK_inhib; ERK and JNK pathways, inhibitor
  2. NM_001382346.1NP_001369275.1  coiled-coil domain-containing protein 134 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AL021453
  3. NM_024821.5NP_079097.1  coiled-coil domain-containing protein 134 isoform 1 precursor

    See identical proteins and their annotated locations for NP_079097.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AL021453, BC017693, BX473493, CB240942
    Consensus CDS
    CCDS33654.1
    UniProtKB/Swiss-Prot
    Q9H6E4
    Related
    ENSP00000255784.5, ENST00000255784.5
    Conserved Domains (1) summary
    pfam15002
    Location:29183
    ERK-JNK_inhib; ERK and JNK pathways, inhibitor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    41800679..41832164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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