Seroatlas · Human Serome Atlas

GEMIN8

Gem-associated protein 8

Also known as: FAM51A1, FLJ20514, GEMI8_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NWZ8
Gene
GEMIN8
Ensembl
ENSG00000046647
Chromosome
X
Canonical length
242 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

Canonical amino-acid sequenceUniProt

242 residues, UniProt reviewed canonical sequence.

>Q9NWZ8|GEMIN8
     1  MAAVKASTSK ATRPWYSHPV YARYWQHYHQ AMAWMQSHHN AYRKAVESCF NLPWYLPSAL
    61  LPQSSYDNEA AYPQSFYDHH VAWQDYPCSS SHFRRSGQHP RYSSRIQAST KEDQALSKEE
   121  EMETESDAEV ECDLSNMEIT EELRQYFAET ERHREERRRQ QQLDAERLDS YVNADHDLYC
   181  NTRRSVEAPT ERPGERRQAE MKRLYGDSAA KIQAMEAAVQ LSFDKHCDRK QPKYWPVIPL
   241  KF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GEMIN8 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)
0.58
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 29 nTPM
  • ovary: 27 nTPM
  • retina: 27 nTPM
  • fallopian tube: 25 nTPM
  • choroid plexus: 24 nTPM
  • endometrium: 23 nTPM

Single-cell type

  • ependymal cells: 80 nCPM
  • somatotrophs: 61 nCPM
  • thyrotrophs: 59 nCPM
  • respiratory ciliated cells: 57 nCPM
  • bergmann glia: 55 nCPM
  • fallopian tube ciliated cells: 54 nCPM

Immune cell

  • plasmacytoid DC: 22 nTPM
  • memory CD4 T-cell: 21 nTPM
  • myeloid DC: 19 nTPM
  • naive CD4 T-cell: 18 nTPM
  • memory B-cell: 17 nTPM
  • NK-cell: 16 nTPM

Brain region

  • white matter: 40 nTPM
  • medulla oblongata: 35 nTPM
  • choroid plexus: 34 nTPM
  • spinal cord: 33 nTPM
  • cerebellum: 31 nTPM
  • pons: 30 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)
0.33
gnomAD pLI
0.94
gnomAD missense Z
0.6
DepMap mean gene effect
-0.55
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

  • Gemini of Cajal bodies-associated protein 8
  • Gemini of Cajal bodies-associated protein 8

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GEMIN8 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 GEMIN8 as an antibody target. Whether an autoantibody or antibody against GEMIN8 could matter depends on whether native GEMIN8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GEMIN8 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 GEMIN8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GEMIN8. 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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