WDR48 - WD repeat domain 48 Gene

Also Known as P80; UAF1; Bun62; SPG60

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57599

About WDR48

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:39,052,016-39,096,664 (from NCBI)

This gene has 10 transcripts (splice variants), 233 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 33.3), bone marrow (RPKM 19.8) and 25 other tissues.

Summary

The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]

WDR48 Products (7)

mRNA Protein Name
NM_001303402.2 NP_001290331.1 WD repeat-containing protein 48 isoform 2
NM_001303403.2 NP_001290332.1 WD repeat-containing protein 48 isoform 3
NM_001346225.2 NP_001333154.1 WD repeat-containing protein 48 isoform 4
NM_001346226.2 NP_001333155.1 WD repeat-containing protein 48 isoform 5
NM_001346227.2 NP_001333156.1 WD repeat-containing protein 48 isoform 6
NM_001346228.2 NP_001333157.1 WD repeat-containing protein 48 isoform 7
NM_020839.4 NP_065890.1 WD repeat-containing protein 48 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
31253762 GOA
enables deubiquitinase activator activity IDA
IDA: Inferred from direct assay
18082604 GOA
enables double-stranded DNA binding IDA
IDA: Inferred from direct assay
27239033 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18082604 GOA
enables single-stranded DNA binding IDA
IDA: Inferred from direct assay
27239033 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
27239033 GOA
involved in positive regulation of double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
27239033 GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
37289831 GOA
Cellular Component GO Annotation Evidence References Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
18032488 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18082604 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDR48 Protein Structure

WD40

WD40: WD domain, G-beta repeat (31 - 58)

WD40

WD40: WD domain, G-beta repeat (69 - 103)

WD40

WD40: WD domain, G-beta repeat (109 - 145)

WD40

WD40: WD domain, G-beta repeat (161 - 196)

WD40

WD40: WD domain, G-beta repeat (204 - 238)

WD40

WD40: WD domain, G-beta repeat (243 - 277)

DUF3337

DUF3337: Domain of unknown function (DUF3337) (366 - 676)

  • 0
  • 200
  • 400
  • 600
  • 677 a.a.
Protein Preferred Names Protein Names

WD repeat-containing protein 48

  • USP1 associated factor 1

WDR48 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
WDR48 Q8TAF3 USP1 Homo sapiens O94782
Anti Tag CoIP
19615732
Intra
WDR48 Q8TAF3 USP1 Homo sapiens O94782
TAP
24981860
Cross: Cross-species interaction Intra: Intraspecies interaction

WDR48 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89971 WDR48 Antibody (YA9315) WB, ICC/IF, IF-Tissue, IP, ELISA human, mouse, rat

Related Diseases

Diseases Alias
Autosomal Recessive Spastic Paraplegia Type 60

  • Spg60
Fanconi Anemia, Complementation Group I

  • Fanconi Anemia Complementation Group I

  • FANCI
Motor Neuron Disease

  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease
Interstitial Nephritis, Karyomegalic

  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn
Fanconi Anemia, Complementation Group D2

  • Fanconi Anemia Complementation Group D2

  • FANCD2

  • Fad2

  • Fa4

  • Fancd

  • Fanconi Pancytopenia Type 4

  • Fanconi Anemia, Complementation Group D

  • Fanconi Pancytopenia, Type 4

  • Facd

  • Fanconi Anemia Complementation Group D
Xeroderma Pigmentosum, Variant Type

  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum
Aplastic Anemia

  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos
Fanconi Anemia, Complementation Group A

  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia
Seckel Syndrome

  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15784 WDR48 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22921 Wdr48 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29435 Wdr48 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta WDR48 VGNC VGNC:79899
Felis catus WDR48 VGNC VGNC:102866
Mus musculus WDR48 MGD MGI:1914811
Rattus norvegicus WDR48 RGD RGD:1309702
Bos taurus WDR48 VGNC VGNC:36904
Canis familiaris WDR48 VGNC VGNC:48371
Others WDR48 NCBI