DAZL

Protein identityUniProt · HPA

UniProt accession

Q92904

Gene

DAZL

Ensembl

ENSG00000092345

Chromosome

3

Canonical length

295 aa

Protein class

Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

295 residues, UniProt reviewed canonical sequence.

>Q92904|DAZL
     1  MSTANPETPN STISREASTQ SSSAATSQGY ILPEGKIMPN TVFVGGIDVR MDETEIRSFF
    61  ARYGSVKEVK IITDRTGVSK GYGFVSFFND VDVQKIVESQ INFHGKKLKL GPAIRKQNLC
   121  AYHVQPRPLV FNHPPPPQFQ NVWTNPNTET YMQPTTTMNP ITQYVQAYPT YPNSPVQVIT
   181  GYQLPVYNYQ MPPQWPVGEQ RSYVVPPAYS AVNYHCNEVD PGAEVVPNEC SVHEATPPSG
   241  NGPQKKSVDR SIQTVVSCLF NPENRLRNSV VTQDDYFKDK RVHHFRRSRA MLKSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DAZL 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)

0.59

Highest tissue expression

75 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DAZL.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 47 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Idiopathic male infertility

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)

0.24

gnomAD pLI

0.99

gnomAD missense Z

0.44

DepMap mean gene effect

-0.14

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 3'-UTR-mediated mRNA stabilization
• female meiosis II
• germ cell development
• oocyte maturation
• positive regulation of meiotic nuclear division
• positive regulation of translational initiation
• spermatogenesis

Molecular functions

• identical protein binding
• mRNA 3'-UTR binding
• RNA binding
• translation activator activity

Cellular components

• cytoplasm
• nucleus
• protein-containing complex
• ribosome

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• DAZ, RNA recognition motif, vertebrates
• DAZ domain
• RNA recognition motif
• Daz repeat

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Differentiation
• Nucleus
• Phosphoprotein
• RNA-binding
• Spermatogenesis
• Translation regulation

InteractionsUniProt · HPA

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

• BOLL
• DAZAP1
• DAZAP2
• PUM2
• DAZ1