GAK1B_HUMAN
ID GAK1B_HUMAN Reviewed; 519 AA.
AC Q6UWH4; Q498Z3; Q6IAF9; Q6ZMF2; Q86XL0;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Golgi-associated kinase 1B {ECO:0000305};
DE AltName: Full=Expressed in nerve and epithelium during development;
DE AltName: Full=Protein FAM198B;
GN Name=GASK1B {ECO:0000312|HGNC:HGNC:25312}; Synonyms=C4orf18, ENED, FAM198B;
GN ORFNames=AD021, UNQ2512/PRO6001;
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).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 238-519 (ISOFORM 1), AND VARIANT SER-432.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 274-519 (ISOFORM 1).
RC TISSUE=Testis;
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).
RN [5]
RP SUBCELLULAR LOCATION.
RX PubMed=11256614; DOI=10.1093/embo-reports/kvd058;
RA Simpson J.C., Wellenreuther R., Poustka A., Pepperkok R., Wiemann S.;
RT "Systematic subcellular localization of novel proteins identified by large-
RT scale cDNA sequencing.";
RL EMBO Rep. 1:287-292(2000).
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC {ECO:0000305|PubMed:11256614}; Single-pass type II membrane protein
CC {ECO:0000305|PubMed:11256614}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6UWH4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UWH4-2; Sequence=VSP_025795;
CC Name=3;
CC IsoId=Q6UWH4-3; Sequence=VSP_025794, VSP_025796;
CC -!- SIMILARITY: Belongs to the GASK family. {ECO:0000305}.
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DR EMBL; AY358785; AAQ89145.1; -; mRNA.
DR EMBL; AK172805; BAD18776.1; -; mRNA.
DR EMBL; BC043193; AAH43193.1; -; mRNA.
DR EMBL; BC100016; AAI00017.1; -; mRNA.
DR EMBL; CR457196; CAG33477.1; -; mRNA.
DR CCDS; CCDS34087.1; -. [Q6UWH4-2]
DR CCDS; CCDS3798.1; -. [Q6UWH4-1]
DR RefSeq; NP_001026870.2; NM_001031700.2. [Q6UWH4-2]
DR RefSeq; NP_001121896.1; NM_001128424.1. [Q6UWH4-1]
DR RefSeq; NP_057697.2; NM_016613.6. [Q6UWH4-1]
DR AlphaFoldDB; Q6UWH4; -.
DR BioGRID; 119464; 5.
DR IntAct; Q6UWH4; 1.
DR STRING; 9606.ENSP00000377396; -.
DR GlyGen; Q6UWH4; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q6UWH4; -.
DR PhosphoSitePlus; Q6UWH4; -.
DR SwissPalm; Q6UWH4; -.
DR BioMuta; FAM198B; -.
DR DMDM; 74738096; -.
DR jPOST; Q6UWH4; -.
DR MassIVE; Q6UWH4; -.
DR MaxQB; Q6UWH4; -.
DR PeptideAtlas; Q6UWH4; -.
DR PRIDE; Q6UWH4; -.
DR ProteomicsDB; 67478; -. [Q6UWH4-1]
DR ProteomicsDB; 67479; -. [Q6UWH4-2]
DR ProteomicsDB; 67480; -. [Q6UWH4-3]
DR Antibodypedia; 2027; 79 antibodies from 17 providers.
DR DNASU; 51313; -.
DR Ensembl; ENST00000296530.12; ENSP00000296530.7; ENSG00000164125.16. [Q6UWH4-1]
DR Ensembl; ENST00000393807.9; ENSP00000377396.4; ENSG00000164125.16. [Q6UWH4-2]
DR Ensembl; ENST00000585682.6; ENSP00000465976.1; ENSG00000164125.16. [Q6UWH4-1]
DR Ensembl; ENST00000592057.1; ENSP00000466873.1; ENSG00000164125.16. [Q6UWH4-3]
DR GeneID; 51313; -.
DR KEGG; hsa:51313; -.
DR MANE-Select; ENST00000585682.6; ENSP00000465976.1; NM_001128424.2; NP_001121896.1.
DR UCSC; uc003ipp.5; human. [Q6UWH4-1]
DR CTD; 51313; -.
DR DisGeNET; 51313; -.
DR GeneCards; GASK1B; -.
DR HGNC; HGNC:25312; GASK1B.
DR HPA; ENSG00000164125; Tissue enhanced (adrenal).
DR neXtProt; NX_Q6UWH4; -.
DR OpenTargets; ENSG00000164125; -.
DR PharmGKB; PA165664058; -.
DR VEuPathDB; HostDB:ENSG00000164125; -.
DR eggNOG; ENOG502QU38; Eukaryota.
DR GeneTree; ENSGT00420000029769; -.
DR HOGENOM; CLU_033542_2_0_1; -.
DR InParanoid; Q6UWH4; -.
DR OMA; PPWFSAQ; -.
DR PhylomeDB; Q6UWH4; -.
DR TreeFam; TF330994; -.
DR PathwayCommons; Q6UWH4; -.
DR SignaLink; Q6UWH4; -.
DR BioGRID-ORCS; 51313; 7 hits in 1064 CRISPR screens.
DR ChiTaRS; FAM198B; human.
DR GeneWiki; C4orf18; -.
DR GenomeRNAi; 51313; -.
DR Pharos; Q6UWH4; Tbio.
DR PRO; PR:Q6UWH4; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6UWH4; protein.
DR Bgee; ENSG00000164125; Expressed in mammary duct and 183 other tissues.
DR ExpressionAtlas; Q6UWH4; baseline and differential.
DR Genevisible; Q6UWH4; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:LIFEdb.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR029207; FAM198.
DR PANTHER; PTHR15905; PTHR15905; 1.
DR Pfam; PF15051; FAM198; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Golgi apparatus; Membrane;
KW Reference proteome; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..519
FT /note="Golgi-associated kinase 1B"
FT /id="PRO_0000288864"
FT TOPO_DOM 1..37
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 38..55
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 56..519
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT REGION 62..103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 289
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 304..331
FT /note="DGRPCPIILWDASLSSASNDTHSSVKLT -> GNRFTCFVICSCWGFWFIFF
FT FPSLSFSK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025794"
FT VAR_SEQ 304..329
FT /note="DGRPCPIILWDASLSSASNDTHSSVK -> AAAAACLSMRLAFFIFPAWEDM
FT RVPGKCCIGHAR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025795"
FT VAR_SEQ 332..519
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025796"
FT VARIANT 432
FT /note="G -> S (in dbSNP:rs17857283)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032514"
SQ SEQUENCE 519 AA; 57552 MW; 94F6EE648E4CB0BD CRC64;
MTCPDKPGQL INWFICSLCV PRVRKLWSSR RPRTRRNLLL GTACAIYLGF LVSQVGRASL
QHGQAAEKGP HRSRDTAEPS FPEIPLDGTL APPESQGNGS TLQPNVVYIT LRSKRSKPAN
IRGTVKPKRR KKHAVASAAP GQEALVGPSL QPQEAAREAD AVAPGYAQGA NLVKIGERPW
RLVRGPGVRA GGPDFLQPSS RESNIRIYSE SAPSWLSKDD IRRMRLLADS AVAGLRPVSS
RSGARLLVLE GGAPGAVLRC GPSPCGLLKQ PLDMSEVFAF HLDRILGLNR TLPSVSRKAE
FIQDGRPCPI ILWDASLSSA SNDTHSSVKL TWGTYQQLLK QKCWQNGRVP KPESGCTEIH
HHEWSKMALF DFLLQIYNRL DTNCCGFRPR KEDACVQNGL RPKCDDQGSA ALAHIIQRKH
DPRHLVFIDN KGFFDRSEDN LNFKLLEGIK EFPASAVSVL KSQHLRQKLL QSLFLDKVYW
ESQGGRQGIE KLIDVIEHRA KILITYINAH GVKVLPMNE
