Seroatlas · Human Serome Atlas

DCAF17

DDB1- and CUL4-associated factor 17

Also known as: C2orf37, DCA17_HUMAN, FLJ13096

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q5H9S7
Gene
DCAF17
Ensembl
ENSG00000115827
Chromosome
2
Canonical length
520 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

520 residues, UniProt reviewed canonical sequence.

>Q5H9S7|DCAF17
     1  MGPTRKPNVC SRLSRRALGC FSRDAGVVQR TNLGILRALV CQESTKFKNV WTTHSRSPIA
    61  YERGRIYFDN YRRCVSSVAS EPRKLYEMPK CSKSEKIEDA LLWECPVGDI LPNSSDYKSS
   121  LIALTAHNWL LRISATTGKI LEKIYLAPYC KFRYLSWDTP QEVIAVKSAQ NRGSAVARQA
   181  GIQQHVLLYL AVFRVLPFSL VGILEINKKI FGNVTDATLS HGILIVMYSS GLVRLYSFQT
   241  IAEQFMQQKL DLGCACRWGG TTGTVGEAPF GIPCNIKITD MPPLLFEVSS LENAFQIGGH
   301  PWHYIVTPNK KKQKGVFHIC ALKDNSLAKN GIQEMDCCSL ESDWIYFHPD ASGRIIHVGP
   361  NQVKVLKLTE IENNSSQHQI SEDFVILANR ENHKNENVLT VTASGRVVKK SFNLLDDDPE
   421  QETFKIVDYE DELDLLSVVA VTQIDAEGKA HLDFHCNEYG TLLKSIPLVE SWDVTYSHEV
   481  YFDRDLVLHI EQKPNRVFSC YVYQMICDTG EEEETINRSC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DCAF17 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
2
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • retina: 13 nTPM
  • thyroid gland: 9.5 nTPM
  • thymus: 7.3 nTPM
  • lymph node: 6.8 nTPM
  • skin: 6.8 nTPM
  • ovary: 6.1 nTPM

Single-cell type

  • oligodendrocytes: 65 nCPM
  • thyrotrophs: 45 nCPM
  • myonuclei: 45 nCPM
  • somatotrophs: 43 nCPM
  • adrenal cortex cells: 38 nCPM
  • microglia: 38 nCPM

Immune cell

  • MAIT T-cell: 3.4 nTPM
  • naive CD8 T-cell: 2.5 nTPM
  • gdT-cell: 2.3 nTPM
  • naive CD4 T-cell: 2 nTPM
  • memory CD4 T-cell: 1.8 nTPM
  • naive B-cell: 1.8 nTPM

Brain region

  • white matter: 22 nTPM
  • thalamus: 15 nTPM
  • cerebellum: 15 nTPM
  • basal ganglia: 15 nTPM
  • cerebral cortex: 14 nTPM
  • medulla oblongata: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DCAF17.

Disease | AllUniProt

Conditions DCAF17 is implicated in, by any mechanism.

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 589 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.82
gnomAD pLI
0
gnomAD missense Z
0.82
DepMap mean gene effect
0.02
DepMap dependency class
none

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • DDB1- and CUL4-associated factor 17
  • DDB1- and CUL4-associated factor 17

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DCAF17 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 DCAF17 as an antibody target. Whether an autoantibody or antibody against DCAF17 could matter depends on whether native DCAF17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DCAF17 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 DCAF17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DCAF17. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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