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

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: all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functionally characterizes other DDB1- and CUL4-associated factors, including the DCAF12 factor which most closely resembles the product of this gene.
Title: A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1.

Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Orthologs from Annotation Pipeline: 14 organisms have orthologs with human gene DCAF12L1
Orthologs

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

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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

NG_012689.1 RefSeqGene

Range

5046..8477

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_178470.5 → NP_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:152 → 417

WD40; WD40 repeat [General function prediction only]

sd00039
Location:100 → 145

7WD40; WD40 repeat [structural motif]

cl02567
Location:89 → 227

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 ...