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WDR75 WD repeat domain 75 [ Homo sapiens (human) ]

Gene ID: 84128, updated on 1-Jun-2020

Summary

Official Symbol
WDR75provided by HGNC
Official Full Name
WD repeat domain 75provided by HGNC
Primary source
HGNC:HGNC:25725
See related
Ensembl:ENSG00000115368
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NET16; UTP17
Expression
Ubiquitous expression in lymph node (RPKM 14.9), endometrium (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See WDR75 in Genome Data Viewer
Location:
2q32.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (189441433..189475562)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190306159..190340287)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927252 Neighboring gene keratin 18 pseudogene 19 Neighboring gene KDM3A pseudogene 1 Neighboring gene solute carrier family 40 member 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

Phenotypes

NHGRI GWAS Catalog

Description
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12519, DKFZp781N1244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Process Evidence Code Pubs
positive regulation of rRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase I IMP
Inferred from Mutant Phenotype
more info
PubMed 
rRNA processing TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
WD repeat-containing protein 75
Names
U3 small nucleolar RNA-associated protein 17 homolog
UTP17, small subunit (SSU) processome component, homolog

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_001303096.1NP_001290025.1  WD repeat-containing protein 75 isoform 2

    See identical proteins and their annotated locations for NP_001290025.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon which results in a distinct 5' UTR and use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK091546, AL122097, BI460450, BU619995
    UniProtKB/Swiss-Prot
    Q8IWA0
    Conserved Domains (3) summary
    COG2319
    Location:7421
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:95130
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:7252
    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_032168.3NP_115544.1  WD repeat-containing protein 75 isoform 1

    See identical proteins and their annotated locations for NP_115544.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK023276, BC040567, BU619995
    Consensus CDS
    CCDS2298.1
    UniProtKB/Swiss-Prot
    Q8IWA0
    Related
    ENSP00000314193.4, ENST00000314761.9
    Conserved Domains (3) summary
    COG2319
    Location:24320
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:6199
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:20316
    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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    189441433..189475562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453168.1XP_024308936.1  WD repeat-containing protein 75 isoform X1

    Conserved Domains (2) summary
    COG2319
    Location:1351
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:3066
    7WD40; WD40 repeat [structural motif]
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