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DCAF12 DDB1 and CUL4 associated factor 12 [ Homo sapiens (human) ]

Gene ID: 25853, updated on 5-Jul-2020

Summary

Official Symbol
DCAF12provided by HGNC
Official Full Name
DDB1 and CUL4 associated factor 12provided by HGNC
Primary source
HGNC:HGNC:19911
See related
Ensembl:ENSG00000198876
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
CT102; TCC52; WDR40A; KIAA1892
Summary
This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]
Expression
Broad expression in testis (RPKM 38.2), lymph node (RPKM 19.3) and 25 other tissues See more
Orthologs

Genomic context

See DCAF12 in Genome Data Viewer
Location:
9p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (34086387..34126698, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34086381..34126771, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ubiquitin associated protein 2 Neighboring gene RNA, U7 small nuclear 36 pseudogene Neighboring gene RN7SK pseudogene 114 Neighboring gene TUBB4B pseudogene 2 Neighboring gene tubulin beta pseudogene 4 Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 1 Neighboring gene uncharacterized LOC114224 Neighboring gene ubiquitin associated protein 1

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
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1058, DKFZp434O125

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Cul4-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul4-RING E3 ubiquitin ligase complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DDB1- and CUL4-associated factor 12
Names
WD repeat domain 40A
WD repeat-containing protein 40A
cancer/testis antigen 102
centrosome-related protein TCC52
testis cancer centrosome-related protein

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_015397.4NP_056212.1  DDB1- and CUL4-associated factor 12

    See identical proteins and their annotated locations for NP_056212.1

    Status: REVIEWED

    Source sequence(s)
    AB067479, AL354989, BM144957, BM747928
    Consensus CDS
    CCDS6549.1
    UniProtKB/Swiss-Prot
    Q5T6F0
    Related
    ENSP00000355114.3, ENST00000361264.9
    Conserved Domains (2) summary
    sd00039
    Location:137180
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:85279
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    34086387..34126698 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517843.1XP_011516145.1  DDB1- and CUL4-associated factor 12 isoform X1

    See identical proteins and their annotated locations for XP_011516145.1

    UniProtKB/Swiss-Prot
    Q5T6F0
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