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DCAF7 DDB1 and CUL4 associated factor 7 [ Homo sapiens (human) ]

Gene ID: 10238, updated on 5-Sep-2021

Summary

Official Symbol
DCAF7provided by HGNC
Official Full Name
DDB1 and CUL4 associated factor 7provided by HGNC
Primary source
HGNC:HGNC:30915
See related
Ensembl:ENSG00000136485 MIM:605973
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
AN11; HAN11; WDR68; SWAN-1
Summary
This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in kidney (RPKM 18.2), brain (RPKM 17.9) and 25 other tissues See more
Orthologs
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Genomic context

See DCAF7 in Genome Data Viewer
Location:
17q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63550477..63594266)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61627838..61671628)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene angiotensin I converting enzyme 3, pseudogene Neighboring gene potassium voltage-gated channel subfamily H member 6 Neighboring gene RNA, U6 small nuclear 288, pseudogene Neighboring gene translational activator of cytochrome c oxidase I Neighboring gene family with sequence similarity 136 member A pseudogene

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

Associated conditions

Description Tests
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-macromolecule adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of Cul4-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DDB1- and CUL4-associated factor 7
Names
WD repeat-containing protein 68
WD repeat-containing protein An11 homolog
human anthocyanin
seven-WD-repeat protein of the AN11 family-1

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_033092.1 RefSeqGene

    Range
    5043..48832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005828.5NP_005819.3  DDB1- and CUL4-associated factor 7

    See identical proteins and their annotated locations for NP_005819.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC046185, BF507629, HY023965, U94747
    Consensus CDS
    CCDS74127.1
    UniProtKB/Swiss-Prot
    P61962
    Related
    ENSP00000483236.1, ENST00000614556.5
    Conserved Domains (2) summary
    sd00039
    Location:71116
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:19295
    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 ...

RNA

  1. NR_073585.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC001264, HY023965

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    63550477..63594266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003725.1: Suppressed sequence

    Description
    NM_001003725.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
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