2. Gene
  3. WDR48 - WD repeat domain 48 Gene

WDR48 - WD repeat domain 48 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as P80; UAF1; Bun62; SPG60

Gene ID: 57599 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15784 WDR48 Human Pre-designed siRNA Set A Pre-designed Sets / 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