GPATCH8
G patch domain-containing protein 8
Also known as: GPATC8, GPTC8_HUMAN, KIAA0553
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKJ3
- Gene
- GPATCH8
- Ensembl
- ENSG00000186566
- Chromosome
- 17
- Canonical length
- 1502 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles,Mitochondria
OverviewNCBI Gene
The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
Canonical amino-acid sequenceUniProt
1502 residues, UniProt reviewed canonical sequence.
>Q9UKJ3|GPATCH8
1 MADRFSRFNE DRDFQGNHFD QYEEGHLEIE QASLDKPIES DNIGHRLLQK HGWKLGQGLG
61 KSLQGRTDPI PIVVKYDVMG MGRMEMELDY AEDATERRRV LEVEKEDTEE LRQKYKDYVD
121 KEKAIAKALE DLRANFYCEL CDKQYQKHQE FDNHINSYDH AHKQRLKDLK QREFARNVSS
181 RSRKDEKKQE KALRRLHELA EQRKQAECAP GSGPMFKPTT VAVDEEGGED DKDESATNSG
241 TGATASCGLG SEFSTDKGGP FTAVQITNTT GLAQAPGLAS QGISFGIKNN LGTPLQKLGV
301 SFSFAKKAPV KLESIASVFK DHAEEGTSED GTKPDEKSSD QGLQKVGDSD GSSNLDGKKE
361 DEDPQDGGSL ASTLSKLKRM KREEGAGATE PEYYHYIPPA HCKVKPNFPF LLFMRASEQM
421 DGDNTTHPKN APESKKGSSP KPKSCIKAAA SQGAEKTVSE VSEQPKETSM TEPSEPGSKA
481 EAKKALGGDV SDQSLESHSQ KVSETQMCES NSSKETSLAT PAGKESQEGP KHPTGPFFPV
541 LSKDESTALQ WPSELLIFTK AEPSISYSCN PLYFDFKLSR NKDARTKGTE KPKDIGSSSK
601 DHLQGLDPGE PNKSKEVGGE KIVRSSGGRM DAPASGSACS GLNKQEPGGS HGSETEDTGR
661 SLPSKKERSG KSHRHKKKKK HKKSSKHKRK HKADTEEKSS KAESGEKSKK RKKRKRKKNK
721 SSAPADSERG PKPEPPGSGS PAPPRRRRRA QDDSQRRSLP AEEGSSGKKD EGGGGSSSQD
781 HGGRKHKGEL PPSSCQRRAG TKRSSRSSHR SQPSSGDEDS DDASSHRLHQ KSPSQYSEEE
841 EEEDSGSEHS RSRSRSGRRH SSHRSSRRSY SSSSDASSDQ SCYSRQRSYS DDSYSDYSDR
901 SRRHSKRSHD SDDSDYASSK HRSKRHKYSS SDDDYSLSCS QSRSRSRSHT RERSRSRGRS
961 RSSSCSRSRS KRRSRSTTAH SWQRSRSYSR DRSRSTRSPS QRSGSRKRSW GHESPEERHS
1021 GRRDFIRSKI YRSQSPHYFR SGRGEGPGKK DDGRGDDSKA TGPPSQNSNI GTGRGSEGDC
1081 SPEDKNSVTA KLLLEKIQSR KVERKPSVSE EVQATPNKAG PKLKDPPQGY FGPKLPPSLG
1141 NKPVLPLIGK LPATRKPNKK CEESGLERGE EQEQSETEEG PPGSSDALFG HQFPSEETTG
1201 PLLDPPPEES KSGEATADHP VAPLGTPAHS DCYPGDPTIS HNYLPDPSDG DTLESLDSSS
1261 QPGPVESSLL PIAPDLEHFP SYAPPSGDPS IESTDGAEDA SLAPLESQPI TFTPEEMEKY
1321 SKLQQAAQQH IQQQLLAKQV KAFPASAALA PATPALQPIH IQQPATASAT SITTVQHAIL
1381 QHHAAAAAAA IGIHPHPHPQ PLAQVHHIPQ PHLTPISLSH LTHSIIPGHP ATFLASHPIH
1441 IIPASAIHPG PFTFHPVPHA ALYPTLLAPR PAAAAATALH LHPLLHPIFS GQDLQHPPSH
1501 GTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GPATCH8 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)
- 0.65
- Highest tissue expression
- 49 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 49 nTPM
- skeletal muscle: 40 nTPM
- retina: 28 nTPM
- ovary: 21 nTPM
- pituitary gland: 19 nTPM
- thymus: 19 nTPM
Single-cell type
- myonuclei: 1,703 nCPM
- thyrotrophs: 512 nCPM
- nk-cells: 501 nCPM
- lactotrophs: 498 nCPM
- corticotrophs: 475 nCPM
- retinal horizontal cells: 473 nCPM
Immune cell
- non-classical monocyte: 14 nTPM
- NK-cell: 10 nTPM
- gdT-cell: 9.4 nTPM
- MAIT T-cell: 8.7 nTPM
- memory B-cell: 8.6 nTPM
- basophil: 8.2 nTPM
Brain region
- cerebellum: 20 nTPM
- white matter: 16 nTPM
- basal ganglia: 16 nTPM
- medulla oblongata: 16 nTPM
- thalamus: 16 nTPM
- midbrain: 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)
- 0.17
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.46
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
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
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GPATCH8 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 GPATCH8 as an antibody target. Whether an autoantibody or antibody against GPATCH8 could matter depends on whether native GPATCH8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GPATCH8 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 GPATCH8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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