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DCAF12L1 DDB1 and CUL4 associated factor 12 like 1 [ Homo sapiens (human) ]

Gene ID: 139170, updated on 5-Aug-2022

Summary

Official Symbol
DCAF12L1provided by HGNC
Official Full Name
DDB1 and CUL4 associated factor 12 like 1provided by HGNC
Primary source
HGNC:HGNC:29395
See related
Ensembl:ENSG00000198889 AllianceGenome:HGNC:29395
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
WDR40B; KIAA1892L
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 5.0), gall bladder (RPKM 0.9) and 3 other tissues See more
Orthologs
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Genomic context

See DCAF12L1 in Genome Data Viewer
Location:
Xq25
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (126549383..126552814, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (124862123..124865554, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (125683366..125686797, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MT-ND4 pseudogene 24 Neighboring gene olfactory receptor family 4 subfamily W member 1 pseudogene Neighboring gene MT-CYB pseudogene 38 Neighboring gene proline rich 32

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
part_of Cul4-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
DDB1- and CUL4-associated factor 12-like protein 1
Names
WD repeat domain 40B
WD repeat-containing protein 40B

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.

Genomic

  1. NG_012689.1 RefSeqGene

    Range
    5046..8477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178470.5NP_848565.2  DDB1- and CUL4-associated factor 12-like protein 1

    See identical proteins and their annotated locations for NP_848565.2

    Status: REVIEWED

    Source sequence(s)
    AI139786, BC035674, BM563914, DN999337
    Consensus CDS
    CCDS14610.1
    UniProtKB/Swiss-Prot
    Q5VU92, Q8IYK3
    Related
    ENSP00000360167.1, ENST00000371126.3
    Conserved Domains (3) summary
    COG2319
    Location:152417
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:100145
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:89227
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    126549383..126552814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    124862123..124865554 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)