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WDR7 WD repeat domain 7 [ Homo sapiens (human) ]

Gene ID: 23335, updated on 7-Oct-2018

Summary

Official Symbol
WDR7provided by HGNC
Official Full Name
WD repeat domain 7provided by HGNC
Primary source
HGNC:HGNC:13490
See related
Ensembl:ENSG00000091157 MIM:613473; Vega:OTTHUMG00000132721
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
TRAG
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) that 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. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 12.4), thyroid (RPKM 5.9) and 24 other tissues See more
Orthologs

Genomic context

See WDR7 in Genome Data Viewer
Location:
18q21.31
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (56651359..57029805)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (54318590..54697036)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372135 Neighboring gene thioredoxin like 1 Neighboring gene uncharacterized LOC105372136 Neighboring gene WDR7 overlapping transcript 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of comorbid depressive syndrome and alcohol dependence.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0541

Gene Ontology Provided by GOA

Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
WD repeat-containing protein 7
Names
TGF-beta resistance associated
TGF-beta resistance-associated protein TRAG
rabconnectin-3 beta

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_015285.2NP_056100.2  WD repeat-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_056100.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB011113, AC012301, AF188125, AK057141, BC050352
    Consensus CDS
    CCDS11962.1
    UniProtKB/Swiss-Prot
    Q9Y4E6
    Related
    ENSP00000254442.3, OTTHUMP00000163595, ENST00000254442.7, OTTHUMT00000256062
    Conserved Domains (3) summary
    COG2319
    Location:341592
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2262
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:408598
    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 ...
  2. NM_052834.2NP_443066.2  WD repeat-containing protein 7 isoform 2

    See identical proteins and their annotated locations for NP_443066.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon within the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC012301, AF188125, AK057141, AY099325, BC050352
    Consensus CDS
    CCDS11963.1
    UniProtKB/Swiss-Prot
    Q9Y4E6
    Related
    ENSP00000350187.2, OTTHUMP00000163596, ENST00000357574.7, OTTHUMT00000256063
    Conserved Domains (3) summary
    COG2319
    Location:341592
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2262
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:408598
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    56651359..57029805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525888.2XP_011524190.1  WD repeat-containing protein 7 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:341592
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2262
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:408598
    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 ...
  2. XM_006722431.2XP_006722494.1  WD repeat-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_006722494.1

    UniProtKB/Swiss-Prot
    Q9Y4E6
    Conserved Domains (3) summary
    COG2319
    Location:341592
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2262
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:408598
    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 ...
  3. XM_017025682.1XP_016881171.1  WD repeat-containing protein 7 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y4E6
    Conserved Domains (3) summary
    COG2319
    Location:341592
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2262
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:408598
    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 ...
  4. XM_017025683.1XP_016881172.1  WD repeat-containing protein 7 isoform X4

    Conserved Domains (3) summary
    COG2319
    Location:851919
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:849883
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:849918
    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. XR_001753170.2 RNA Sequence

  2. XR_001753171.2 RNA Sequence

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