Seroatlas · Human Serome Atlas

GSG1

Germ cell-specific gene 1 protein

Also known as: GSG1_HUMAN, MGC3146

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

Protein identityUniProt · HPA

UniProt accession: Q2KHT4
Gene: GSG1
Ensembl: ENSG00000111305
Chromosome: 12
Canonical length: 349 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Predicted to enable RNA polymerase binding activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

349 residues, UniProt reviewed canonical sequence.

>Q2KHT4|GSG1
     1  MAKMELSKAF SGQRTLLSAI LSMLSLSFST TSLLSNYWFV GTQKVPKPLC EKGLAAKCFD
    61  MPVSLDGDTN TSTQEVVQYN WETGDDRFSF RSFRSGMWLS CEETVEEPAL LHPQSWKQFR
   121  ALRSSGTAAA KGERCRSFIE LTPPAKREIL WLSLGTQITY IGLQFISFLL LLTDLLLTGN
   181  PACGLKLSAF AAVSSVLSGL LGMVAHMMYS QVFQATVNLG PEDWRPHVWN YGWAFYMAWL
   241  SFTCCMASAV TTFNTYTRMV LEFKCKHSKS FKENPNCLPH HHQCFPRRLS SAAPTVGPLT
   301  SYHQYHNQPI HSVSEGVDFY SELRNKGFQR GASQELKEAV RSSVEEEQC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSG1 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: Other membrane
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 406 nTPM

Expression across tissuesHPA

Tissue

testis: 406 nTPM
retina: 28 nTPM
choroid plexus: 11 nTPM
pancreas: 4.7 nTPM
duodenum: 1.3 nTPM
cerebral cortex: 0.9 nTPM

Single-cell type

late spermatids: 19,252 nCPM
early spermatids: 2,571 nCPM
late primary spermatocytes: 579 nCPM
retinal bipolar cells: 96 nCPM
neuroendocrine cells: 31 nCPM
hepatic stellate cells: 26 nCPM

Immune cell

neutrophil: 0.4 nTPM
basophil: 0.2 nTPM
eosinophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM

Brain region

cerebellum: 12 nTPM
cerebral cortex: 11 nTPM
white matter: 10 nTPM
choroid plexus: 10 nTPM
basal ganglia: 9.4 nTPM
hippocampal formation: 9.2 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): 0.93
gnomAD pLI: 0
gnomAD missense Z: 0.22
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GSG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

PAPOLB

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GSG1 as an antibody target. Whether an autoantibody or antibody against GSG1 could matter depends on whether native GSG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GSG1 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 GSG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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