Seroatlas · Human Serome Atlas

GEMIN5

Gem-associated protein 5

Also known as: GEMI5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8TEQ6
Gene: GEMIN5
Ensembl: ENSG00000082516
Chromosome: 5
Canonical length: 1508 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

1508 residues, UniProt reviewed canonical sequence.

>Q8TEQ6|GEMIN5
     1  MGQEPRTLPP SPNWYCARCS DAVPGGLFGF AARTSVFLVR VGPGAGESPG TPPFRVIGEL
    61  VGHTERVSGF TFSHHPGQYN LCATSSDDGT VKIWDVETKT VVTEHALHQH TISTLHWSPR
   121  VKDLIVSGDE KGVVFCYWFN RNDSQHLFIE PRTIFCLTCS PHHEDLVAIG YKDGIVVIID
   181  ISKKGEVIHR LRGHDDEIHS IAWCPLPGED CLSINQEETS EEAEITNGNA VAQAPVTKGC
   241  YLATGSKDQT IRIWSCSRGR GVMILKLPFL KRRGGGIDPT VKERLWLTLH WPSNQPTQLV
   301  SSCFGGELLQ WDLTQSWRRK YTLFSASSEG QNHSRIVFNL CPLQTEDDKQ LLLSTSMDRD
   361  VKCWDIATLE CSWTLPSLGG FAYSLAFSSV DIGSLAIGVG DGMIRVWNTL SIKNNYDVKN
   421  FWQGVKSKVT ALCWHPTKEG CLAFGTDDGK VGLYDTYSNK PPQISSTYHK KTVYTLAWGP
   481  PVPPMSLGGE GDRPSLALYS CGGEGIVLQH NPWKLSGEAF DINKLIRDTN SIKYKLPVHT
   541  EISWKADGKI MALGNEDGSI EIFQIPNLKL ICTIQQHHKL VNTISWHHEH GSQPELSYLM
   601  ASGSNNAVIY VHNLKTVIES SPESPVTITE PYRTLSGHTA KITSVAWSPH HDGRLVSASY
   661  DGTAQVWDAL REEPLCNFRG HRGRLLCVAW SPLDPDCIYS GADDFCVHKW LTSMQDHSRP
   721  PQGKKSIELE KKRLSQPKAK PKKKKKPTLR TPVKLESIDG NEEESMKENS GPVENGVSDQ
   781  EGEEQAREPE LPCGLAPAVS REPVICTPVS SGFEKSKVTI NNKVILLKKE PPKEKPETLI
   841  KKRKARSLLP LSTSLDHRSK EELHQDCLVL ATAKHSRELN EDVSADVEER FHLGLFTDRA
   901  TLYRMIDIEG KGHLENGHPE LFHQLMLWKG DLKGVLQTAA ERGELTDNLV AMAPAAGYHV
   961  WLWAVEAFAK QLCFQDQYVK AASHLLSIHK VYEAVELLKS NHFYREAIAI AKARLRPEDP
  1021  VLKDLYLSWG TVLERDGHYA VAAKCYLGAT CAYDAAKVLA KKGDAASLRT AAELAAIVGE
  1081  DELSASLALR CAQELLLANN WVGAQEALQL HESLQGQRLV FCLLELLSRH LEEKQLSEGK
  1141  SSSSYHTWNT GTEGPFVERV TAVWKSIFSL DTPEQYQEAF QKLQNIKYPS ATNNTPAKQL
  1201  LLHICHDLTL AVLSQQMASW DEAVQALLRA VVRSYDSGSF TIMQEVYSAF LPDGCDHLRD
  1261  KLGDHQSPAT PAFKSLEAFF LYGRLYEFWW SLSRPCPNSS VWVRAGHRTL SVEPSQQLDT
  1321  ASTEETDPET SQPEPNRPSE LDLRLTEEGE RMLSTFKELF SEKHASLQNS QRTVAEVQET
  1381  LAEMIRQHQK SQLCKSTANG PDKNEPEVEA EQPLCSSQSQ CKEEKNEPLS LPELTKRLTE
  1441  ANQRMAKFPE SIKAWPFPDV LECCLVLLLI RSHFPGCLAQ EMQQQAQELL QKYGNTKTYR
  1501  RHCQTFCM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GEMIN5 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): 0.31
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 12 nTPM
tongue: 9.5 nTPM
adipose tissue: 7.9 nTPM
breast: 7.7 nTPM
ovary: 6.9 nTPM
skin: 6.9 nTPM

Single-cell type

erythrocyte progenitors: 36 nCPM
myonuclei: 35 nCPM
tuft cells: 35 nCPM
retinal horizontal cells: 34 nCPM
differentiating spermatogonia: 34 nCPM
kupffer cells: 34 nCPM

Immune cell

MAIT T-cell: 3.9 nTPM
naive CD8 T-cell: 3.5 nTPM
memory B-cell: 3.4 nTPM
naive CD4 T-cell: 3.2 nTPM
naive B-cell: 2.7 nTPM
NK-cell: 2.7 nTPM

Brain region

white matter: 15 nTPM
basal ganglia: 13 nTPM
cerebellum: 12 nTPM
cerebral cortex: 12 nTPM
hypothalamus: 12 nTPM
pons: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GEMIN5.

Disease | AllUniProt

Conditions GEMIN5 is implicated in, by any mechanism.

Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) MIM:619333

Disease | GeneticClinVar

34 pathogenic / likely-pathogenic of 374 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
GEMIN5-related disorder
Inborn genetic diseases
GEMIN5-related neurodevelopmental disorder

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): 0.75
gnomAD pLI: 0
gnomAD missense Z: 0.07
DepMap mean gene effect: -1.57
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

WD40 repeat
Quinoprotein alcohol dehydrogenase-like superfamily
WD40/YVTN repeat-like-containing domain superfamily
WD40 repeat, conserved site
PAC1/LIS1-like, WD-40 repeat
WD40-repeat-containing domain superfamily
WD domain, G-beta repeat
Gem-associated protein 5
Gem-associated protein 5, RBS domain
Gem-associated protein 5, TPR domain
Gem-associated protein 5, second beta-propeller domain
Gem-associated protein 5, first beta-propeller
RIG first beta-propeller
GEMI5 TPR domain
RIG second beta-propeller
GEMI5 RBS C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GEMIN5 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 GEMIN5 as an antibody target. Whether an autoantibody or antibody against GEMIN5 could matter depends on whether native GEMIN5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GEMIN5 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 GEMIN5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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