Format

Send to:

Choose Destination

WDR48 WD repeat domain 48 [ Homo sapiens (human) ]

Gene ID: 57599, updated on 26-May-2016
Official Symbol
WDR48provided by HGNC
Official Full Name
WD repeat domain 48provided by HGNC
Primary source
HGNC:HGNC:30914
See related
Ensembl:ENSG00000114742 HPRD:11146; MIM:612167; Vega:OTTHUMG00000155972
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
P80; UAF1; SPG60
Orthologs
Location:
3p21.33
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (39051986..39096671)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39093477..39138155)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377034 Neighboring gene sodium voltage-gated channel alpha subunit 11 Neighboring gene uncharacterized LOC105377643 Neighboring gene golgi reassembly stacking protein 1 Neighboring gene tetratricopeptide repeat domain 21A Neighboring gene uncharacterized LOC101928263 Neighboring gene microRNA 6822 Neighboring gene cysteine and serine rich nuclear protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
NHGRI GWA Catalog
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1449, DKFZp686G1794

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair via homologous recombination IEA
Inferred from Electronic Annotation
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
homeostasis of number of cells IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein monoubiquitination IEA
Inferred from Electronic Annotation
more info
 
seminiferous tubule development IEA
Inferred from Electronic Annotation
more info
 
single fertilization IEA
Inferred from Electronic Annotation
more info
 
skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
skin development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
late endosome IEA
Inferred from Electronic Annotation
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
WD repeat-containing protein 48
Names
USP1 associated factor 1
USP1-associated factor 1
WD repeat endosomal protein
testicular tissue protein Li 224

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_001303402.1NP_001290331.1  WD repeat-containing protein 48 isoform 2

    See identical proteins and their annotated locations for NP_001290331.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region and uses an alternate start codon, which results in a frameshift compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB040882, AK025513, DA215447
    UniProtKB/Swiss-Prot
    Q8TAF3
    Conserved Domains (3) summary
    COG2319
    Location:8309
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:3204
    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 ...
    pfam11816
    Location:284595
    DUF3337; Domain of unknown function (DUF3337)
  2. NM_001303403.1NP_001290332.1  WD repeat-containing protein 48 isoform 3

    See identical proteins and their annotated locations for NP_001290332.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
    Source sequence(s)
    AB040882, AK025513, DA215447
    UniProtKB/Swiss-Prot
    Q8TAF3
    Conserved Domains (3) summary
    COG2319
    Location:39382
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:30277
    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 ...
    pfam11816
    Location:357668
    DUF3337; Domain of unknown function (DUF3337)
  3. NM_020839.3NP_065890.1  WD repeat-containing protein 48 isoform 1

    See identical proteins and their annotated locations for NP_065890.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB040882, AK025513, DA215447
    Consensus CDS
    CCDS33738.1
    UniProtKB/Swiss-Prot
    Q8TAF3
    UniProtKB/TrEMBL
    A0A024R2L1
    Related
    ENSP00000307491, OTTHUMP00000208993, ENST00000302313, OTTHUMT00000342529
    Conserved Domains (3) summary
    COG2319
    Location:29328
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:30286
    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 ...
    pfam11816
    Location:366677
    DUF3337; Domain of unknown function (DUF3337)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    39051986..39096671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265346.2XP_005265403.1  

    Conserved Domains (3) summary
    COG2319
    Location:29328
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:30286
    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 ...
    pfam11816
    Location:366647
    DUF3337; Domain of unknown function (DUF3337)
  2. XM_011533971.1XP_011532273.1  

    Conserved Domains (3) summary
    COG2319
    Location:4321
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:4216
    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 ...
    pfam11816
    Location:296577
    DUF3337; Domain of unknown function (DUF3337)

RNA

  1. XR_940485.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    39044543..39089235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)