Seroatlas · Human Serome Atlas

SPATA7

Spermatogenesis-associated protein 7

Also known as: HSD3, LCA3, SPAT7_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9P0W8
Gene
SPATA7
Ensembl
ENSG00000042317
Chromosome
14
Canonical length
599 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Primary cilium transition zone,Mid piece

OverviewNCBI Gene

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

599 residues, UniProt reviewed canonical sequence.

>Q9P0W8|SPATA7
     1  MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN HMAVHYNKIL
    61  SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF KLTKTAMRAN YKNNSKSLFN
   121  TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL VPSSERLHLS LHKSSKVITN GPEKNSSSSP
   181  SSVDYAASGP RKLSSGALYG RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF
   241  TPRTLKTEAK SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM
   301  NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL KPPSTRKIYS
   361  DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN KHLEEEKMRH LLHVLKVDLG
   421  CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN ELKNESEVTI QQERQQYQKA LDMLLSAPKD
   481  ENEIFPSPTE FFMPIYKSKH SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV
   541  IEGDSDPEKV EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPATA7 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)
0.64
Highest tissue expression
53 nTPM

Expression across tissuesHPA

Tissue

  • testis: 53 nTPM
  • ovary: 13 nTPM
  • cerebellum: 12 nTPM
  • thyroid gland: 11 nTPM
  • pituitary gland: 11 nTPM
  • choroid plexus: 10 nTPM

Single-cell type

  • late spermatids: 1,637 nCPM
  • early spermatids: 1,094 nCPM
  • late primary spermatocytes: 378 nCPM
  • lactotrophs: 195 nCPM
  • ependymal cells: 183 nCPM
  • thyrotrophs: 179 nCPM

Immune cell

  • MAIT T-cell: 2.5 nTPM
  • gdT-cell: 2.2 nTPM
  • myeloid DC: 2.1 nTPM
  • plasmacytoid DC: 2.1 nTPM
  • memory B-cell: 2 nTPM
  • memory CD4 T-cell: 1.8 nTPM

Brain region

  • cerebellum: 59 nTPM
  • white matter: 23 nTPM
  • basal ganglia: 20 nTPM
  • hypothalamus: 18 nTPM
  • cerebral cortex: 17 nTPM
  • midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPATA7.

Disease | AllUniProt

Conditions SPATA7 is implicated in, by any mechanism.

  • Leber congenital amaurosis 3 (LCA3) MIM:604232
  • Retinitis pigmentosa 94, variable age at onset, autosomal recessive (RP94) MIM:604232

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 504 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)
1.15
gnomAD pLI
0
gnomAD missense Z
0.04
DepMap mean gene effect
-0.02
DepMap dependency class
none

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

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Spermatogenesis-associated protein 7
  • Spermatogenesis-associated protein 7, or HSD3

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SPATA7 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 SPATA7 as an antibody target. Whether an autoantibody or antibody against SPATA7 could matter depends on whether native SPATA7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SPATA7 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 SPATA7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SPATA7. 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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