GOG8A_HUMAN
ID GOG8A_HUMAN Reviewed; 631 AA.
AC A7E2F4; A7MCY9; B7ZMK5; O94937; Q52M46; Q68DK6; Q9NZG8; Q9NZW0; Q9NZW3;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-MAR-2011, sequence version 3.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=Golgin subfamily A member 8A;
DE AltName: Full=88 kDa Golgi matrix protein;
DE Short=GM88;
DE AltName: Full=GM88 autoantigen;
GN Name=GOLGA8A; Synonyms=KIAA0855;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ASN-480; ASN-530 AND
RP GLN-541.
RA Loh E., Thuan D.B., Hong W.;
RT "GM88, a 88-kDa Golgi protein homologous to GM130.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASN-480;
RP ASN-530 AND GLN-541.
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP ASN-480; ASN-530 AND GLN-541.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 27-631 (ISOFORM 1), AND VARIANTS
RP ASN-480; ASN-530 AND GLN-541.
RC TISSUE=Liver;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: May be involved in maintaining Golgi structure.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane
CC {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A7E2F4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A7E2F4-3; Sequence=VSP_040753;
CC -!- SIMILARITY: Belongs to the GOLGA8 family. {ECO:0000305}.
CC -!- CAUTION: A family of highly similar proteins (GOLGA8A, GOLGA8B,
CC GOLGA8C, GOLGA8D, GOLGA8E, GOLGA8F, GOLGA8G) are encoded by a repeated
CC region on chromosome 15q11-15q13. Our sequences are in agreement with
CC HGNC nomenclature. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI44610.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI50330.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI52411.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA74878.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAH18214.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF204231; AAF28463.1; -; mRNA.
DR EMBL; AB020662; BAA74878.1; ALT_INIT; mRNA.
DR EMBL; AC025678; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC093673; AAH93673.1; -; mRNA.
DR EMBL; BC144609; AAI44610.1; ALT_INIT; mRNA.
DR EMBL; BC150329; AAI50330.1; ALT_INIT; mRNA.
DR EMBL; BC152410; AAI52411.1; ALT_INIT; mRNA.
DR EMBL; CR749361; CAH18214.1; ALT_SEQ; mRNA.
DR CCDS; CCDS10038.1; -. [A7E2F4-3]
DR RefSeq; NP_851422.1; NM_181077.3. [A7E2F4-3]
DR AlphaFoldDB; A7E2F4; -.
DR SMR; A7E2F4; -.
DR BioGRID; 116657; 41.
DR IntAct; A7E2F4; 3.
DR MINT; A7E2F4; -.
DR STRING; 9606.ENSP00000352111; -.
DR GlyConnect; 1282; 3 N-Linked glycans (1 site).
DR GlyGen; A7E2F4; 1 site, 3 N-linked glycans (1 site).
DR iPTMnet; A7E2F4; -.
DR PhosphoSitePlus; A7E2F4; -.
DR BioMuta; GOLGA8A; -.
DR jPOST; A7E2F4; -.
DR MassIVE; A7E2F4; -.
DR MaxQB; A7E2F4; -.
DR PaxDb; A7E2F4; -.
DR PeptideAtlas; A7E2F4; -.
DR PRIDE; A7E2F4; -.
DR ProteomicsDB; 1791; -. [A7E2F4-1]
DR Antibodypedia; 67268; 49 antibodies from 12 providers.
DR DNASU; 23015; -.
DR Ensembl; ENST00000359187.5; ENSP00000352111.4; ENSG00000175265.18. [A7E2F4-3]
DR Ensembl; ENST00000432566.6; ENSP00000402791.3; ENSG00000175265.18. [A7E2F4-1]
DR GeneID; 23015; -.
DR KEGG; hsa:23015; -.
DR MANE-Select; ENST00000359187.5; ENSP00000352111.4; NM_181077.5; NP_851422.1. [A7E2F4-3]
DR UCSC; uc001zii.4; human. [A7E2F4-1]
DR CTD; 23015; -.
DR DisGeNET; 23015; -.
DR GeneCards; GOLGA8A; -.
DR HGNC; HGNC:31972; GOLGA8A.
DR HPA; ENSG00000175265; Low tissue specificity.
DR MIM; 616180; gene.
DR neXtProt; NX_A7E2F4; -.
DR OpenTargets; ENSG00000175265; -.
DR VEuPathDB; HostDB:ENSG00000175265; -.
DR eggNOG; KOG4725; Eukaryota.
DR GeneTree; ENSGT00530000062932; -.
DR HOGENOM; CLU_012403_1_2_1; -.
DR InParanoid; A7E2F4; -.
DR OMA; DMHRVEK; -.
DR OrthoDB; 358120at2759; -.
DR PhylomeDB; A7E2F4; -.
DR TreeFam; TF316990; -.
DR PathwayCommons; A7E2F4; -.
DR SignaLink; A7E2F4; -.
DR BioGRID-ORCS; 23015; 12 hits in 275 CRISPR screens.
DR ChiTaRS; GOLGA8A; human.
DR GenomeRNAi; 23015; -.
DR Pharos; A7E2F4; Tdark.
DR PRO; PR:A7E2F4; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; A7E2F4; protein.
DR Bgee; ENSG00000175265; Expressed in sural nerve and 198 other tissues.
DR Genevisible; A7E2F4; HS.
DR GO; GO:0005801; C:cis-Golgi network; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0000137; C:Golgi cis cisterna; IBA:GO_Central.
DR GO; GO:0032580; C:Golgi cisterna membrane; IBA:GO_Central.
DR GO; GO:0007030; P:Golgi organization; IBA:GO_Central.
DR InterPro; IPR043937; GM130_C.
DR InterPro; IPR043976; GOLGA_cons_dom.
DR InterPro; IPR024858; Golgin_A.
DR PANTHER; PTHR10881; PTHR10881; 1.
DR Pfam; PF19046; GM130_C; 1.
DR Pfam; PF15070; GOLGA2L5; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Golgi apparatus; Membrane;
KW Reference proteome.
FT CHAIN 1..631
FT /note="Golgin subfamily A member 8A"
FT /id="PRO_0000190070"
FT REGION 1..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 127..154
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 426..447
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 488..520
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 519..631
FT /note="Golgi-targeting domain"
FT /evidence="ECO:0000250"
FT COILED 110..468
FT /evidence="ECO:0000255"
FT COMPBIAS 1..17
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 68..103
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..84
FT /note="MLPVDGEERKSEGSDTEGDRTSPCAVSSATLKDLEVGGSGRRCSDPAGQPSN
FT LLPQRGLGAPLPAETAHTQPSPNDRSLYLSPK -> MAEETGQSKLAAAKKKFKEYWQR
FT NRPGVPAAAKRNTKANGSSPETAASGGCHSSEA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040753"
FT VARIANT 480
FT /note="K -> N (in dbSNP:rs347880)"
FT /evidence="ECO:0000269|PubMed:10048485,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.1"
FT /id="VAR_064650"
FT VARIANT 530
FT /note="S -> N (in dbSNP:rs238639)"
FT /evidence="ECO:0000269|PubMed:10048485,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.1"
FT /id="VAR_064651"
FT VARIANT 541
FT /note="R -> Q (in dbSNP:rs347879)"
FT /evidence="ECO:0000269|PubMed:10048485,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.1"
FT /id="VAR_064652"
FT CONFLICT 95
FT /note="R -> P (in Ref. 4; AAH93673)"
FT /evidence="ECO:0000305"
FT CONFLICT 380
FT /note="R -> Q (in Ref. 4; AAH93673)"
FT /evidence="ECO:0000305"
FT CONFLICT 422
FT /note="M -> T (in Ref. 4; AAH93673)"
FT /evidence="ECO:0000305"
FT CONFLICT 596
FT /note="V -> I (in Ref. 1; AAF28463, 2; BAA74878, 4;
FT AAI44610/AAI50330/AAI52411 and 5; CAH18214)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 631 AA; 70117 MW; 521BE39BFFBC6842 CRC64;
MLPVDGEERK SEGSDTEGDR TSPCAVSSAT LKDLEVGGSG RRCSDPAGQP SNLLPQRGLG
APLPAETAHT QPSPNDRSLY LSPKSSSASS SLHARQSPCQ EQAAVLNSRS IKISRLNDTI
KSLKQQKKQV EHQLEEEKKA NNEKQKAERE LEGQIQRLNT EKKKLNTDLY HMKHSLRYFE
EESKDLAGRL QRSSQRIGEL EWSLCAVAAT QKKKPDGFSS RSKALLKRQL EQSIREQILL
KGHVTQLKES LKEVQLERDQ YAEQIKGERA QWQQRMRKMS QEVCTLKEEK KHDTHRVEEL
ERSLSRLKNQ MAEPLPPDAP AVSSEVELQD LRKELERVAG ELQAQVENNQ CISLLNRGQK
ERLREQEERL QEQQERLRER EKRLQQLAEP QSDLEELKHE NKSALQLEQQ VKELQEKLGQ
VMETLTSAEK EPEAAVPASG TGGESSGLMD LLEEKADLRE HVEKLELGFI QYRRERCHQK
VHRLLTEPGD SAKDASPGGG HHQAGPGQGG EEGEAAGAAG DGVAACGSYS EGHGKFLAAA
RNPAAEPSPG APAPQELGAA DKHGDLCEAS LTNSVEPAQG EAREGSSQDN PTAQPVVQLL
GEMQDHQEHP GLGSNCCVPC FCWAWLPRRR R
