GG6L2_HUMAN
ID GG6L2_HUMAN Reviewed; 909 AA.
AC Q8N9W4; A1L301; H3BMJ4;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-JUL-2018, sequence version 3.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Golgin subfamily A member 6-like protein 2;
GN Name=GOLGA6L2;
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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS GLY-43;
RP HIS-54; GLY-64; ARG-191 AND PRO-235.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS GLY-43;
RP HIS-54; GLY-64; ARG-191 AND PRO-235.
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).
CC -!- INTERACTION:
CC Q8N9W4-2; Q8NA61: CBY2; NbExp=3; IntAct=EBI-10268729, EBI-741724;
CC Q8N9W4-2; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-10268729, EBI-739467;
CC Q8N9W4-2; Q15323: KRT31; NbExp=3; IntAct=EBI-10268729, EBI-948001;
CC Q8N9W4-2; Q14525: KRT33B; NbExp=3; IntAct=EBI-10268729, EBI-1049638;
CC Q8N9W4-2; Q6A162: KRT40; NbExp=3; IntAct=EBI-10268729, EBI-10171697;
CC Q8N9W4-2; O15481: MAGEB4; NbExp=3; IntAct=EBI-10268729, EBI-751857;
CC Q8N9W4-2; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-10268729, EBI-11750983;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q8N9W4-3; Sequence=Displayed;
CC Name=1;
CC IsoId=Q8N9W4-1; Sequence=VSP_059653, VSP_059654;
CC Name=2;
CC IsoId=Q8N9W4-2; Sequence=VSP_059650, VSP_059651, VSP_059652;
CC -!- SIMILARITY: Belongs to the GOLGA6 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI29821.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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; AK093463; BAC04173.1; -; mRNA.
DR EMBL; AC073446; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC129820; AAI29821.1; ALT_INIT; mRNA.
DR CCDS; CCDS76728.1; -. [Q8N9W4-3]
DR RefSeq; NP_001291317.1; NM_001304388.1. [Q8N9W4-3]
DR AlphaFoldDB; Q8N9W4; -.
DR SMR; Q8N9W4; -.
DR IntAct; Q8N9W4; 12.
DR STRING; 9606.ENSP00000454407; -.
DR iPTMnet; Q8N9W4; -.
DR MetOSite; Q8N9W4; -.
DR PhosphoSitePlus; Q8N9W4; -.
DR BioMuta; GOLGA6L2; -.
DR DMDM; 182662391; -.
DR MassIVE; Q8N9W4; -.
DR MaxQB; Q8N9W4; -.
DR PaxDb; Q8N9W4; -.
DR PeptideAtlas; Q8N9W4; -.
DR PRIDE; Q8N9W4; -.
DR ProteomicsDB; 40926; -.
DR ProteomicsDB; 72593; -. [Q8N9W4-1]
DR ProteomicsDB; 72594; -. [Q8N9W4-2]
DR Antibodypedia; 65204; 40 antibodies from 8 providers.
DR DNASU; 283685; -.
DR Ensembl; ENST00000567107.6; ENSP00000454407.1; ENSG00000174450.13. [Q8N9W4-3]
DR GeneID; 283685; -.
DR KEGG; hsa:283685; -.
DR MANE-Select; ENST00000567107.6; ENSP00000454407.1; NM_001304388.2; NP_001291317.1.
DR UCSC; uc059gsp.1; human. [Q8N9W4-3]
DR CTD; 283685; -.
DR DisGeNET; 283685; -.
DR GeneCards; GOLGA6L2; -.
DR HGNC; HGNC:26695; GOLGA6L2.
DR HPA; ENSG00000174450; Tissue enriched (testis).
DR neXtProt; NX_Q8N9W4; -.
DR OpenTargets; ENSG00000174450; -.
DR VEuPathDB; HostDB:ENSG00000174450; -.
DR eggNOG; KOG3592; Eukaryota.
DR eggNOG; KOG4725; Eukaryota.
DR GeneTree; ENSGT00940000163338; -.
DR HOGENOM; CLU_045921_1_0_1; -.
DR InParanoid; Q8N9W4; -.
DR OMA; MLAKECS; -.
DR OrthoDB; 358120at2759; -.
DR TreeFam; TF316990; -.
DR PathwayCommons; Q8N9W4; -.
DR SignaLink; Q8N9W4; -.
DR BioGRID-ORCS; 283685; 3 hits in 209 CRISPR screens.
DR ChiTaRS; GOLGA6L2; human.
DR GenomeRNAi; 283685; -.
DR Pharos; Q8N9W4; Tdark.
DR PRO; PR:Q8N9W4; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8N9W4; protein.
DR Bgee; ENSG00000174450; Expressed in left testis and 13 other tissues.
DR ExpressionAtlas; Q8N9W4; baseline and differential.
DR Genevisible; Q8N9W4; HS.
DR InterPro; IPR026737; GOLGA6L.
DR PANTHER; PTHR23143; PTHR23143; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..909
FT /note="Golgin subfamily A member 6-like protein 2"
FT /id="PRO_0000320246"
FT REGION 1..88
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 300..362
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 381..408
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 425..494
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 524..909
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 192..526
FT /evidence="ECO:0000255"
FT COMPBIAS 17..31
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 54..73
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 74..88
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 524..547
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 603..619
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 621..635
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 698..714
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 716..737
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 754..768
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 871..892
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 308..362
FT /note="Missing (in isoform 2)"
FT /id="VSP_059650"
FT VAR_SEQ 376..481
FT /note="ERLWEQEKQMREQEQKMRDQEERMWEQDERLREKEERMREQEKMWEQVEKMR
FT EEKKMQEQEKKTRDQEEKMQEEERIREREKKMREEEETMREQEEKMQKQEENMW -> M
FT MREKEERIRDQKEKMQERLPEHEERCSEPCLPPSKVLCNMSHTGSVEPAGGEAGEGSPQ
FT DNPTAQEIMQLFCGMKNAQQCPGLGSTSCIPFFYRGDKRKMKIINI (in isoform
FT 2)"
FT /id="VSP_059651"
FT VAR_SEQ 482..909
FT /note="Missing (in isoform 2)"
FT /id="VSP_059652"
FT VAR_SEQ 544..650
FT /note="DVETGGEAAGAGEADVGAGGEDAGSGAEDVGPGGEDVGAGREAAGEGGENAG
FT AEEDVAAGGEDAGGEEDAGAGEEDMGPGGEDARGGEDAGAGEEDAGGGGDDAGAG ->
FT EEMREKEERIRDQKEKMQERLPEHEERCSEPCLPPSKVLCNMSHTGSVEPAGGEAGEGS
FT PQDNPTAQEIMQLFCGMKNAQQCPGLGSTSCIPFFYRGDKRKMKIINI (in
FT isoform 1)"
FT /id="VSP_059653"
FT VAR_SEQ 651..909
FT /note="Missing (in isoform 1)"
FT /id="VSP_059654"
FT VARIANT 43
FT /note="R -> G (in dbSNP:rs2344900)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039173"
FT VARIANT 54
FT /note="N -> H (in dbSNP:rs3866720)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039174"
FT VARIANT 64
FT /note="E -> G (in dbSNP:rs2344899)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039175"
FT VARIANT 191
FT /note="W -> R (in dbSNP:rs4778531)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039176"
FT VARIANT 235
FT /note="R -> P (in dbSNP:rs12594944)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039177"
FT CONFLICT 317
FT /note="R -> W (in Ref. 1; BAC04173)"
FT /evidence="ECO:0000305"
FT CONFLICT 535..536
FT /note="RQ -> QE (in Ref. 1; BAC04173)"
FT /evidence="ECO:0000305"
FT CONFLICT 540..541
FT /note="RE -> WG (in Ref. 1; BAC04173)"
FT /evidence="ECO:0000305"
FT CONFLICT Q8N9W4-1:545
FT /note="E -> M (in Ref. 1; BAC04173)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 909 AA; 100610 MW; 1F3954CD7067B642 CRC64;
MWPQPHLPPH PMMSEKTRQN KLAEAKKKFT DYRQWNIAGV GTRATDTKKK KINNGTNPET
TTSEGCHSPE DTQQNRAQLK EEKKASHQHQ EALRREIEAQ DHTIRILTCQ KTELETALYY
SQDAARKFED GNLGTPSSFN LALSQAFRGS PLGCVSTSLI PGESKDLAGR LHHSWHFAGE
LQRALSAVST WHKKADRYIE ELTKERDALS LELYRNTITN EELKKKNAEL QEKLRLAESE
KSEIQLNVKE LKRKLERAKF LLPQVQTNTL QEEMWRQEEE LREQEKKIRK QEEKMWRQEE
RLREQEGKMR EQEEKMRRQE KRLREQEKEL REQEKELREQ KKLREQEEQM QEQEEKMWEQ
EEKMREQEEK MWRQEERLWE QEKQMREQEQ KMRDQEERMW EQDERLREKE ERMREQEKMW
EQVEKMREEK KMQEQEKKTR DQEEKMQEEE RIREREKKMR EEEETMREQE EKMQKQEENM
WEQEEKEWQQ QRLPEQKEKL WEQEKMQEQE EKIWEQEEKI RDQEEMWGQE KKMWRQEKMR
EQEDVETGGE AAGAGEADVG AGGEDAGSGA EDVGPGGEDV GAGREAAGEG GENAGAEEDV
AAGGEDAGGE EDAGAGEEDM GPGGEDARGG EDAGAGEEDA GGGGDDAGAG GEDAGAGRED
AGAGGEDVGA GREDAGAGGE DVGAGGEDVG AGRRRCGSSR GCRNRRRSCG NTRRCRSRRS
GAEDVGPEGE DVGAGREAAG EGGENAGAED VAAGGEDAGE EEDAGGEDAG AAREDAGAGG
DDVGAGREDA GAGGEDVGAG GEDAGAGGED AGAGGEDAGP GGEDAGAGGE DAGPGGEDAG
AGGEDAGPGG EDVGPGGEDV GAGGEDVGAG GDAREGGEDT RSEREDAGEA ARARGAVLRA
LPPSLQSSL
