Seroatlas · Human Serome Atlas

DAZAP1

DAZ-associated protein 1

Also known as: DAZP1_HUMAN, MGC19907

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

Protein identityUniProt · HPA

UniProt accession: Q96EP5
Gene: DAZAP1
Ensembl: ENSG00000071626
Chromosome: 19
Canonical length: 407 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

407 residues, UniProt reviewed canonical sequence.

>Q96EP5|DAZAP1
     1  MNNSGADEIG KLFVGGLDWS TTQETLRSYF SQYGEVVDCV IMKDKTTNQS RGFGFVKFKD
    61  PNCVGTVLAS RPHTLDGRNI DPKPCTPRGM QPERTRPKEG WQKGPRSDNS KSNKIFVGGI
   121  PHNCGETELR EYFKKFGVVT EVVMIYDAEK QRPRGFGFIT FEDEQSVDQA VNMHFHDIMG
   181  KKVEVKRAEP RDSKSQAPGQ PGASQWGSRV VPNAANGWAG QPPPTWQQGY GPQGMWVPAG
   241  QAIGGYGPPP AGRGAPPPPP PFTSYIVSTP PGGFPPPQGF PQGYGAPPQF SFGYGPPPPP
   301  PDQFAPPGVP PPPATPGAAP LAFPPPPSQA APDMSKPPTA QPDFPYGQYA GYGQDLSGFG
   361  QGFSDPSQQP PSYGGPSVPG SGGPPAGGSG FGRGQNHNVQ GFHPYRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DAZAP1 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): 0.57
Highest tissue expression: 74 nTPM

Expression across tissuesHPA

Tissue

testis: 74 nTPM
bone marrow: 65 nTPM
esophagus: 63 nTPM
skeletal muscle: 63 nTPM
appendix: 53 nTPM
heart muscle: 52 nTPM

Single-cell type

late primary spermatocytes: 139 nCPM
erythrocyte progenitors: 136 nCPM
somatotrophs: 126 nCPM
extravillous trophoblasts: 126 nCPM
esophageal basal cells: 119 nCPM
monocyte progenitors: 108 nCPM

Immune cell

intermediate monocyte: 3.4 nTPM
memory B-cell: 3.2 nTPM
NK-cell: 3 nTPM
MAIT T-cell: 2.9 nTPM
memory CD8 T-cell: 2.9 nTPM
gdT-cell: 2.7 nTPM

Brain region

white matter: 43 nTPM
thalamus: 42 nTPM
medulla oblongata: 38 nTPM
choroid plexus: 37 nTPM
pons: 36 nTPM
cerebral cortex: 35 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): 0.12
gnomAD pLI: 1
gnomAD missense Z: 3.37
DepMap mean gene effect: -0.2
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

RNA recognition motif domain
Nucleotide-binding alpha-beta plait domain superfamily
RNA-binding domain superfamily
RNA recognition motif
DAZ-associated protein 1, RNA recognition motif 2
DAZ-associated protein 1, RNA recognition motif 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DAZAP1 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 DAZAP1 as an antibody target. Whether an autoantibody or antibody against DAZAP1 could matter depends on whether native DAZAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DAZAP1 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 DAZAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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