GEMIN7
Gem-associated protein 7
Also known as: FLJ13956, GEMI7_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H840
- Gene
- GEMIN7
- Ensembl
- ENSG00000142252
- Chromosome
- 19
- Canonical length
- 131 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear """"""""""""""""""""""""""""""""gems"""""""""""""""""""""""""""""""" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
131 residues, UniProt reviewed canonical sequence.
>Q9H840|GEMIN7
1 MQTPVNIPVP VLRLPRGPDG FSRGFAPDGR RAPLRPEVPE IQECPIAQES LESQEQRARA
61 ALRERYLRSL LAMVGHQVSF TLHEGVRVAA HFGATDLDVA NFYVSQLQTP IGVQAEALLR
121 CSDIISYTFK PLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GEMIN7 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)
- 0.5
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- spleen: 36 nTPM
- skeletal muscle: 33 nTPM
- liver: 31 nTPM
- esophagus: 29 nTPM
- lymph node: 25 nTPM
- stomach: 23 nTPM
Single-cell type
- myonuclei: 1.4 nCPM
- cardiomyocytes: 0.9 nCPM
- mucous neck cells: 0.8 nCPM
- corticotrophs: 0.7 nCPM
- endometrial secretory cells: 0.6 nCPM
- salivary myoepithelial cells: 0.6 nCPM
Immune cell
- NK-cell: 75 nTPM
- gdT-cell: 71 nTPM
- MAIT T-cell: 68 nTPM
- memory B-cell: 68 nTPM
- memory CD8 T-cell: 65 nTPM
- naive B-cell: 58 nTPM
Brain region
- choroid plexus: 18 nTPM
- thalamus: 16 nTPM
- midbrain: 16 nTPM
- white matter: 15 nTPM
- cerebellum: 15 nTPM
- cerebral cortex: 15 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)
- 0.89
- gnomAD pLI
- 0.65
- gnomAD missense Z
- 0.35
- DepMap mean gene effect
- -0.67
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
- cytoplasm
- cytosol
- Gemini of Cajal bodies
- nuclear body
- nucleoplasm
- SMN complex
- SMN-Sm protein complex
- Sm-like protein family complex
Protein domainsUniProt · Pfam · InterPro
- SUZ-C domain
- Sm domain
- SMN complex, gem-associated protein 7
- Gem-associated protein 7 (Gemin7)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GEMIN7 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 GEMIN7 as an antibody target. Whether an autoantibody or antibody against GEMIN7 could matter depends on whether native GEMIN7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GEMIN7 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 GEMIN7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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