Seroatlas · Human Serome Atlas

DCAF8

DDB1- and CUL4-associated factor 8

Also known as: DCAF8_HUMAN, FLJ35857, H326, WDR42A

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

Protein identityUniProt · HPA

UniProt accession: Q5TAQ9
Gene: DCAF8
Ensembl: ENSG00000132716
Chromosome: 1
Canonical length: 597 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

597 residues, UniProt reviewed canonical sequence.

>Q5TAQ9|DCAF8
     1  MSSKGSSTDG RTDLANGSLS SSPEEMSGAE EGRETSSGIE VEASDLSLSL TGDDGGPNRT
    61  STESRGTDTE SSGEDKDSDS MEDTGHYSIN DENRVHDRSE EEEEEEEEEE EEQPRRRVQR
   121  KRANRDQDSS DDERALEDWV SSETSALPRP RWQALPALRE RELGSSARFV YEACGARVFV
   181  QRFRLQHGLE GHTGCVNTLH FNQRGTWLAS GSDDLKVVVW DWVRRQPVLD FESGHKSNVF
   241  QAKFLPNSGD STLAMCARDG QVRVAELSAT QCCKNTKRVA QHKGASHKLA LEPDSPCTFL
   301  SAGEDAVVFT IDLRQDRPAS KLVVTKEKEK KVGLYTIYVN PANTHQFAVG GRDQFVRIYD
   361  QRKIDENENN GVLKKFCPHH LVNSESKANI TCLVYSHDGT ELLASYNDED IYLFNSSHSD
   421  GAQYVKRYKG HRNNATVKGV NFYGPKSEFV VSGSDCGHIF LWEKSSCQII QFMEGDKGGV
   481  VNCLEPHPHL PVLATSGLDH DVKIWAPTAE ASTELTGLKD VIKKNKRERD EDSLHQTDLF
   541  DSHMLWFLMH HLRQRRHHRR WREPGVGATD ADSDESPSSS DTSDEEEGPD RVQCMPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DCAF8 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): 0.36
Highest tissue expression: 206 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 206 nTPM
tongue: 110 nTPM
retina: 99 nTPM
liver: 97 nTPM
parathyroid gland: 81 nTPM
heart muscle: 79 nTPM

Single-cell type

oligodendrocytes: 75 nCPM
hepatocytes: 67 nCPM
bergmann glia: 66 nCPM
astrocytes: 59 nCPM
choroid plexus epithelial cells: 59 nCPM
oligodendrocyte progenitor cells: 59 nCPM

Immune cell

basophil: 33 nTPM
gdT-cell: 32 nTPM
naive B-cell: 31 nTPM
NK-cell: 31 nTPM
T-reg: 31 nTPM
MAIT T-cell: 30 nTPM

Brain region

white matter: 144 nTPM
cerebral cortex: 136 nTPM
choroid plexus: 135 nTPM
cerebellum: 134 nTPM
basal ganglia: 124 nTPM
thalamus: 123 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DCAF8.

Disease | AllUniProt

Conditions DCAF8 is implicated in, by any mechanism.

Giant axonal neuropathy 2, autosomal dominant (GAN2) MIM:610100

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 113 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Giant axonal neuropathy 2

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): 0.2
gnomAD pLI: 1
gnomAD missense Z: 3.15
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DCAF8 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 DCAF8 as an antibody target. Whether an autoantibody or antibody against DCAF8 could matter depends on whether native DCAF8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DCAF8 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 DCAF8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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