Seroatlas · Human Serome Atlas

GEMIN4

Gem-associated protein 4

Also known as: DKFZP434B131, DKFZP434D174, GEMI4_HUMAN, HC56, HCAP1, HHRF-1, p97

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

Protein identityUniProt · HPA

UniProt accession: P57678
Gene: GEMIN4
Ensembl: ENSG00000179409
Chromosome: 17
Canonical length: 1058 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Cytosol

OverviewNCBI Gene

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1058 residues, UniProt reviewed canonical sequence.

>P57678|GEMIN4
     1  MDLGPLNICE EMTILHGGFL LAEQLFHPKA LAELTKSDWE RVGRPIVEAL REISSAAAHS
    61  QPFAWKKKAL IIIWAKVLQP HPVTPSDTET RWQEDLFFSV GNMIPTINHT ILFELLKSLE
   121  ASGLFIQLLM ALPTTICHAE LERFLEHVTV DTSAEDVAFF LDVWWEVMKH KGHPQDPLLS
   181  QFSAMAHKYL PALDEFPHPP KRLRSDPDAC PTMPLLAMLL RGLTQIQSRI LGPGRKCCAL
   241  ANLADMLTVF ALTEDDPQEV SATVYLDKLA TVISVWNSDT QNPYHQQALA EKVKEAERDV
   301  SLTSLAKLPS ETIFVGCEFL HHLLREWGEE LQAVLRSSQG TSYDSYRLCD SLTSFSQNAT
   361  LYLNRTSLSK EDRQVVSELA ECVRDFLRKT STVLKNRALE DITASIAMAV IQQKMDRHME
   421  VCYIFASEKK WAFSDEWVAC LGSNRALFRQ PDLVLRLLET VIDVSTADRA IPESQIRQVI
   481  HLILECYADL SLPGKNKVLA GILRSWGRKG LSEKLLAYVE GFQEDLNTTF NQLTQSASEQ
   541  GLAKAVASVA RLVIVHPEVT VKKMCSLAVV NLGTHKFLAQ ILTAFPALRF VEEQGPNSSA
   601  TFMVSCLKET VWMKFSTPKE EKQFLELLNC LMSPVKPQGI PVAALLEPDE VLKEFVLPFL
   661  RLDVEEVDLS LRIFIQTLEA NACREEYWLQ TCSPFPLLFS LCQLLDRFSK YWQLPKEKRC
   721  LSLDRKDLAI HILELLCEIV SANAETFSPD VWIKSLSWLH RKLEQLDWTV GLRLKSFFEG
   781  HFKCEVPATL FEICKLSEDE WTSQAHPGYG AGTGLLAWME CCCVSSGISE RMLSLLVVDV
   841  GNPEEVRLFS KGFLVALVQV MPWCSPQEWQ RLHQLTRRLL EKQLLHVPYS LEYIQFVPLL
   901  NLKPFAQELQ LSVLFLRTFQ FLCSHSCRDW LPLEGWNHVV KLLCGSLTRL LDSVRAIQAA
   961  GPWVQGPEQD LTQEALFVYT QVFCHALHIM AMLHPEVCEP LYVLALETLT CYETLSKTNP
  1021  SVSSLLQRAH EQRFLKSIAE GIGPEERRQT LLQKMSSF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GEMIN4 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): 0.26
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

testis: 46 nTPM
skin: 37 nTPM
thyroid gland: 15 nTPM
ovary: 15 nTPM
bone marrow: 15 nTPM
esophagus: 14 nTPM

Single-cell type

late spermatids: 246 nCPM
early spermatids: 155 nCPM
late primary spermatocytes: 136 nCPM
basal keratinocytes: 19 nCPM
esophageal basal cells: 18 nCPM
suprabasal keratinocytes: 14 nCPM

Immune cell

MAIT T-cell: 14 nTPM
naive B-cell: 12 nTPM
memory B-cell: 12 nTPM
non-classical monocyte: 12 nTPM
naive CD8 T-cell: 10 nTPM
naive CD4 T-cell: 10 nTPM

Brain region

cerebellum: 29 nTPM
cerebral cortex: 21 nTPM
choroid plexus: 20 nTPM
hypothalamus: 15 nTPM
basal ganglia: 14 nTPM
amygdala: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GEMIN4.

Disease | AllUniProt

Conditions GEMIN4 is implicated in, by any mechanism.

Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR) MIM:617913

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 303 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Microcephaly
Severe dystonia
Developmental cataract
Global developmental delay

Disease | ImmuneIEDB

Conditions an epitope on GEMIN4 was assayed in.

colon adenocarcinoma T cell

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): 1.01
gnomAD pLI: 0
gnomAD missense Z: -0.47
DepMap mean gene effect: -0.68
DepMap dependency class: common

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

Molecular functions

ribonucleoprotein complex binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Gem-associated protein 4

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GEMIN4 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 GEMIN4 as an antibody target. Whether an autoantibody or antibody against GEMIN4 could matter depends on whether native GEMIN4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GEMIN4 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 GEMIN4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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