DCAF12L1

Protein identityUniProt · HPA

UniProt accession

Q5VU92

Gene

DCAF12L1

Ensembl

ENSG00000198889

Chromosome

X

Canonical length

463 aa

Protein class

Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

463 residues, UniProt reviewed canonical sequence.

>Q5VU92|DCAF12L1
     1  MAQQQTGSRK RKAPAVEADA ESSPSQGLAA ADGEGPLLLK RQRRPATYRS MAHYLKVREV
    61  GGWGPARLQG FDGELRGYAV QRLPELLTER QLELGTVNKV FASQWLNSRQ VVCGTKCNTL
   121  FVVDVESGHI ARIPLLRDSE ARLAQDQQGC GIHAIELNPS KTLLATGGEN PNSLAIYQLP
   181  SLDPLCLGDR HGHKDWIFAV AWLSDTVAVS GSRDGTVALW RMDPDKFDDT VAWHSEVGLP
   241  VYAHIRPRDV EAIPRAIINP SNRKVRALAC GGKNQELGAV SLDGYFHLWK AGSALSRLLS
   301  IRLPYFRDNV CLTYCDDMSV YAVGSHSHVS FLDLRQDQQN IRPLCSREGG TGVRSLSFYR
   361  HIITVGTGQG SLLFYDVRAQ KFLEERASAT LESSSGPARR KLRLACGRGW LNHNDFWVNY
   421  FGGMEVFPNA LYTHCYNWPE MKLFVAGGPL PAGLHGNYAG LWS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DCAF12L1 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

Unknown

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

5.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DCAF12L1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 59 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Male infertility with azoospermia or oligozoospermia due to single gene mutation

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)

0.31

gnomAD pLI

0.95

gnomAD missense Z

2.41

DepMap mean gene effect

0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• Cul4-RING E3 ubiquitin ligase complex

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• WD40/YVTN repeat-like-containing domain superfamily
• WD40-repeat-containing domain superfamily
• DDB1-CUL4-associated factor 12
• DDB1- and CUL4-associated factor 12, beta-propeller domain
• DDB1- and CUL4-associated factor 12 beta propeller

KeywordsUniProt

• Repeat
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of DCAF12L1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SH2D2A