GAK1A_HUMAN
ID GAK1A_HUMAN Reviewed; 575 AA.
AC Q9UFP1; B3KR48;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Golgi-associated kinase 1A {ECO:0000305};
DE AltName: Full=Protein FAM198A;
DE Flags: Precursor;
GN Name=GASK1A {ECO:0000312|HGNC:HGNC:24485};
GN Synonyms=C3orf41, FAM198A {ECO:0000312|HGNC:HGNC:24485};
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], AND VARIANTS TYR-227 AND ARG-460.
RC TISSUE=Brain;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 128-575, AND VARIANT TYR-227.
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 [4]
RP GLYCOSYLATION, STRUCTURE OF CARBOHYDRATES, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RX PubMed=22171320; DOI=10.1074/mcp.m111.013649;
RA Halim A., Nilsson J., Ruetschi U., Hesse C., Larson G.;
RT "Human urinary glycoproteomics; attachment site specific analysis of N- and
RT O-linked glycosylations by CID and ECD.";
RL Mol. Cell. Proteomics 11:1-17(2012).
RN [5]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF 119-ARG-ARG-120
RP AND ARG-437, AND PROTEOLYTIC CLEAVAGE.
RX PubMed=30188967; DOI=10.1093/abbs/gmy105;
RA Wei Z., Liu T., Lei J., Wu Y., Wang S., Liao K.;
RT "Fam198a, a member of secreted kinase, secrets through caveolae biogenesis
RT pathway.";
RL Acta Biochim. Biophys. Sin. 50:968-975(2018).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Endoplasmic reticulum
CC {ECO:0000250|UniProtKB:Q3UY90}. Golgi apparatus
CC {ECO:0000250|UniProtKB:Q3UY90}. Membrane, caveola
CC {ECO:0000269|PubMed:30188967}. Note=Requires caveolae biogenesis to be
CC secreted from the endoplasmic reticulum going through the Golgi
CC apparatus where is post-translationally processed to the mature form.
CC {ECO:0000250|UniProtKB:Q3UY90}.
CC -!- TISSUE SPECIFICITY: Expressed in skin, lung and colon (at protein
CC level). {ECO:0000269|PubMed:30188967}.
CC -!- PTM: O-glycosylated with core 1 or possibly core 8 glycans.
CC {ECO:0000269|PubMed:22171320}.
CC -!- PTM: Proteolytically cleaved. Cleaved at Arg-120 and Arg-437 leading to
CC a processed mature product of 35 kDa. The cleavage takes place in the
CC Golgi apparatus. {ECO:0000269|PubMed:30188967}.
CC -!- SIMILARITY: Belongs to the GASK family. {ECO:0000305}.
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DR EMBL; AK091001; BAG52260.1; -; mRNA.
DR EMBL; AC092042; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL117530; CAB55980.1; -; mRNA.
DR CCDS; CCDS46808.1; -.
DR PIR; T17290; T17290.
DR RefSeq; NP_001123380.2; NM_001129908.2.
DR AlphaFoldDB; Q9UFP1; -.
DR BioGRID; 609491; 7.
DR IntAct; Q9UFP1; 3.
DR STRING; 9606.ENSP00000407301; -.
DR GlyGen; Q9UFP1; 4 sites, 1 O-linked glycan (3 sites).
DR iPTMnet; Q9UFP1; -.
DR PhosphoSitePlus; Q9UFP1; -.
DR BioMuta; FAM198A; -.
DR DMDM; 296439353; -.
DR EPD; Q9UFP1; -.
DR jPOST; Q9UFP1; -.
DR MassIVE; Q9UFP1; -.
DR PaxDb; Q9UFP1; -.
DR PeptideAtlas; Q9UFP1; -.
DR PRIDE; Q9UFP1; -.
DR ProteomicsDB; 84192; -.
DR Antibodypedia; 48543; 5 antibodies from 5 providers.
DR DNASU; 729085; -.
DR Ensembl; ENST00000273146.6; ENSP00000273146.2; ENSG00000144649.10.
DR Ensembl; ENST00000430121.3; ENSP00000407301.2; ENSG00000144649.10.
DR GeneID; 729085; -.
DR KEGG; hsa:729085; -.
DR MANE-Select; ENST00000430121.3; ENSP00000407301.2; NM_001129908.3; NP_001123380.2.
DR UCSC; uc003cmo.4; human.
DR CTD; 729085; -.
DR DisGeNET; 729085; -.
DR GeneCards; GASK1A; -.
DR HGNC; HGNC:24485; GASK1A.
DR HPA; ENSG00000144649; Low tissue specificity.
DR neXtProt; NX_Q9UFP1; -.
DR OpenTargets; ENSG00000144649; -.
DR PharmGKB; PA165697369; -.
DR VEuPathDB; HostDB:ENSG00000144649; -.
DR eggNOG; ENOG502RYY5; Eukaryota.
DR GeneTree; ENSGT00420000029769; -.
DR HOGENOM; CLU_033542_1_0_1; -.
DR InParanoid; Q9UFP1; -.
DR OMA; VPPWFTE; -.
DR OrthoDB; 451767at2759; -.
DR PhylomeDB; Q9UFP1; -.
DR TreeFam; TF330994; -.
DR PathwayCommons; Q9UFP1; -.
DR SignaLink; Q9UFP1; -.
DR BioGRID-ORCS; 729085; 4 hits in 1062 CRISPR screens.
DR GenomeRNAi; 729085; -.
DR Pharos; Q9UFP1; Tdark.
DR PRO; PR:Q9UFP1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9UFP1; protein.
DR Bgee; ENSG00000144649; Expressed in tibia and 103 other tissues.
DR ExpressionAtlas; Q9UFP1; baseline and differential.
DR Genevisible; Q9UFP1; HS.
DR GO; GO:0005901; C:caveola; IEA:UniProtKB-SubCell.
DR GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
DR GO; GO:0005576; C:extracellular region; ISS:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; ISS:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR InterPro; IPR029207; FAM198.
DR PANTHER; PTHR15905; PTHR15905; 1.
DR Pfam; PF15051; FAM198; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Glycoprotein; Golgi apparatus; Membrane;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..575
FT /note="Golgi-associated kinase 1A"
FT /id="PRO_0000301948"
FT PROPEP 30..119
FT /note="Removed in mature form"
FT /evidence="ECO:0000269|PubMed:30188967"
FT /id="PRO_0000446051"
FT PROPEP 437..575
FT /note="Removed in mature form"
FT /evidence="ECO:0000269|PubMed:30188967"
FT /id="PRO_0000446052"
FT REGION 53..58
FT /note="O-glycosylated at one site"
FT REGION 143..162
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 119..120
FT /note="Cleavage"
FT /evidence="ECO:0000269|PubMed:30188967"
FT SITE 436..437
FT /note="Cleavage"
FT /evidence="ECO:0000269|PubMed:30188967"
FT CARBOHYD 566
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 227
FT /note="H -> Y (in dbSNP:rs2936817)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_063129"
FT VARIANT 460
FT /note="Q -> R (in dbSNP:rs536119)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_063130"
FT MUTAGEN 119..120
FT /note="RR->AA: Abolishes proteolytic cleavage; when
FT associated with A-437."
FT /evidence="ECO:0000269|PubMed:30188967"
FT MUTAGEN 437
FT /note="R->A: Abolishes proteolytic cleavage; when
FT associated with 119-A-A-120."
FT /evidence="ECO:0000269|PubMed:30188967"
FT CONFLICT 234
FT /note="E -> G (in Ref. 1; BAG52260)"
FT /evidence="ECO:0000305"
FT CONFLICT 539
FT /note="G -> S (in Ref. 3; CAB55980)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 575 AA; 63637 MW; 5D9C18CFCFED2698 CRC64;
MASWLRRKLR GKRRPVIAFC LLMILSAMAV TRFPPQRPSA GPDPGPMEPQ GVTGAPATHI
RQALSSSRRQ RARNMGFWRS RALPRNSILV CAEEQGHRAR VDRSRESPGG DLRHPGRVRR
DITLSGHPRL STQHVVLLRE DEVGDPGTKD LGHPQHGSPI QETQSEVVTL VSPLPGSDMA
ALPAWRATSG LTLWPHTAEG RDLLGAENRA LTGGQQAEDP TLASGAHQWP GSVEKLQGSV
WCDAETLLSS SRTGGQAPPW LTDHDVQMLR LLAQGEVVDK ARVPAHGQVL QVGFSTEAAL
QDLSSPRLSQ LCSQGLCGLI KRPGDLPEVL SFHVDRVLGL RRSLPAVARR FHSPLLPYRY
TDGGARPVIW WAPDVQHLSD PDEDQNSLAL GWLQYQALLA HSCNWPGQAP CPGIHHTEWA
RLALFDFLLQ VHDRLDRYCC GFEPEPSDPC VEERLREKCQ NPAELRLVHI LVRSSDPSHL
VYIDNAGNLQ HPEDKLNFRL LEGIDGFPES AVKVLASGCL QNMLLKSLQM DPVFWESQGG
AQGLKQVLQT LEQRGQVLLG HIQKHNLTLF RDEDP
