WDR48
WD repeat-containing protein 48
Also known as: Bun62, KIAA1449, P80, SPG60, WDR48_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TAF3
- Gene
- WDR48
- Ensembl
- ENSG00000114742
- Chromosome
- 3
- Canonical length
- 677 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
677 residues, UniProt reviewed canonical sequence.
>Q8TAF3|WDR48
1 MAAHHRQNTA GRRKVQVSYV IRDEVEKYNR NGVNALQLDP ALNRLFTAGR DSIIRIWSVN
61 QHKQDPYIAS MEHHTDWVND IVLCCNGKTL ISASSDTTVK VWNAHKGFCM STLRTHKDYV
121 KALAYAKDKE LVASAGLDRQ IFLWDVNTLT ALTASNNTVT TSSLSGNKDS IYSLAMNQLG
181 TIIVSGSTEK VLRVWDPRTC AKLMKLKGHT DNVKALLLNR DGTQCLSGSS DGTIRLWSLG
241 QQRCIATYRV HDEGVWALQV NDAFTHVYSG GRDRKIYCTD LRNPDIRVLI CEEKAPVLKM
301 ELDRSADPPP AIWVATTKST VNKWTLKGIH NFRASGDYDN DCTNPITPLC TQPDQVIKGG
361 ASIIQCHILN DKRHILTKDT NNNVAYWDVL KACKVEDLGK VDFEDEIKKR FKMVYVPNWF
421 SVDLKTGMLT ITLDESDCFA AWVSAKDAGF SSPDGSDPKL NLGGLLLQAL LEYWPRTHVN
481 PMDEEENEVN HVNGEQENRV QKGNGYFQVP PHTPVIFGEA GGRTLFRLLC RDSGGETESM
541 LLNETVPQWV IDITVDKNMP KFNKIPFYLQ PHASSGAKTL KKDRLSASDM LQVRKVMEHV
601 YEKIINLDNE SQTTSSSNNE KPGEQEKEED IAVLAEEKIE LLCQDQVLDP NMDLRTVKHF
661 IWKSGGDLTL HYRQKSTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against WDR48 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 45 nTPM
Expression across tissuesHPA
Tissue
- testis: 45 nTPM
- bone marrow: 32 nTPM
- thymus: 25 nTPM
- thyroid gland: 23 nTPM
- cerebral cortex: 22 nTPM
- parathyroid gland: 21 nTPM
Single-cell type
- late primary spermatocytes: 157 nCPM
- late spermatids: 118 nCPM
- neutrophils: 112 nCPM
- endometrial glandular cells: 101 nCPM
- differentiating spermatogonia: 88 nCPM
- early spermatids: 87 nCPM
Immune cell
- NK-cell: 15 nTPM
- basophil: 13 nTPM
- non-classical monocyte: 13 nTPM
- T-reg: 13 nTPM
- naive CD4 T-cell: 11 nTPM
- memory CD8 T-cell: 11 nTPM
Brain region
- white matter: 32 nTPM
- hypothalamus: 31 nTPM
- midbrain: 28 nTPM
- basal ganglia: 28 nTPM
- cerebral cortex: 28 nTPM
- spinal cord: 28 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.8
- DepMap mean gene effect
- -0.41
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA damage response
- double-strand break repair via homologous recombination
- embryonic organ development
- homeostasis of number of cells
- multicellular organism growth
- positive regulation of double-strand break repair via homologous recombination
- positive regulation of epithelial cell proliferation
- positive regulation of receptor signaling pathway via JAK-STAT
- seminiferous tubule development
- single fertilization
- skeletal system morphogenesis
- skin development
- spermatogenesis
- regulation of protein monoubiquitination
Molecular functions
- deubiquitinase activator activity
- DNA binding
- double-stranded DNA binding
- single-stranded DNA binding
- ubiquitin binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- PAC1/LIS1-like, WD-40 repeat
- WD40-repeat-containing domain superfamily
- WD domain, G-beta repeat
- WDR48/Bun107, ubiquitin-like domain
- WD repeat-containing protein 48
- Domain of unknown function (DUF3337)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of WDR48 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads WDR48 as an antibody target. Whether an autoantibody or antibody against WDR48 could matter depends on whether native WDR48 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
WDR48 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label WDR48 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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