Seroatlas · Human Serome Atlas

SPRTN

DNA-dependent metalloprotease SPRTN

Also known as: C1orf124, DKFZP547N043, DVC1, Spartan, SPRTN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9H040
Gene
SPRTN
Ensembl
ENSG00000010072
Chromosome
1
Canonical length
489 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

489 residues, UniProt reviewed canonical sequence.

>Q9H040|SPRTN
     1  MDDDLMLALR LQEEWNLQEA ERDHAQESLS LVDASWELVD PTPDLQALFV QFNDQFFWGQ
    61  LEAVEVKWSV RMTLCAGICS YEGKGGMCSI RLSEPLLKLR PRKDLVETLL HEMIHAYLFV
   121  TNNDKDREGH GPEFCKHMHR INSLTGANIT VYHTFHDEVD EYRRHWWRCN GPCQHRPPYY
   181  GYVKRATNRE PSAHDYWWAE HQKTCGGTYI KIKEPENYSK KGKGKAKLGK EPVLAAENKD
   241  KPNRGEAQLV IPFSGKGYVL GETSNLPSPG KLITSHAINK TQDLLNQNHS ANAVRPNSKI
   301  KVKFEQNGSS KNSHLVSPAV SNSHQNVLSN YFPRVSFANQ KAFRGVNGSP RISVTVGNIP
   361  KNSVSSSSQR RVSSSKISLR NSSKVTESAS VMPSQDVSGS EDTFPNKRPR LEDKTVFDNF
   421  FIKKEQIKSS GNDPKYSTTT AQNSSSSSSQ SKMVNCPVCQ NEVLESQINE HLDWCLEGDS
   481  IKVKSEESL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SPRTN 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)
0.53
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • testis: 14 nTPM
  • bone marrow: 11 nTPM
  • skeletal muscle: 8.3 nTPM
  • placenta: 7.4 nTPM
  • thymus: 6.7 nTPM
  • lymph node: 5.9 nTPM

Single-cell type

  • epicardial cells: 105 nCPM
  • late primary spermatocytes: 62 nCPM
  • megakaryocytes: 62 nCPM
  • cardiomyocytes: 52 nCPM
  • rod photoreceptor cells: 46 nCPM
  • early primary spermatocytes: 39 nCPM

Immune cell

  • eosinophil: 9.8 nTPM
  • neutrophil: 9.6 nTPM
  • basophil: 8.6 nTPM
  • naive CD8 T-cell: 6.8 nTPM
  • intermediate monocyte: 6.6 nTPM
  • NK-cell: 6.6 nTPM

Brain region

  • white matter: 10 nTPM
  • cerebellum: 8.8 nTPM
  • choroid plexus: 8.4 nTPM
  • basal ganglia: 8.3 nTPM
  • medulla oblongata: 8.2 nTPM
  • hypothalamus: 7.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SPRTN.

Disease | AllUniProt

Conditions SPRTN is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 77 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)
0.3
gnomAD pLI
0.97
gnomAD missense Z
0.74
DepMap mean gene effect
-0.78
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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