GRTP1_HUMAN
ID GRTP1_HUMAN Reviewed; 336 AA.
AC Q5TC63; B9A6K2; Q2M232; Q5TC64; Q66K26; Q6P659; Q8N528; Q9H695;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 4.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Growth hormone-regulated TBC protein 1;
DE AltName: Full=TBC1 domain family member 6;
GN Name=GRTP1; Synonyms=TBC1D6;
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 3).
RC TISSUE=Brain;
RX PubMed=19077034; DOI=10.1111/j.1365-2443.2008.01251.x;
RA Ishibashi K., Kanno E., Itoh T., Fukuda M.;
RT "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC)
RT protein that possesses Rab3A-GAP activity.";
RL Genes Cells 14:41-52(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, Ovary, Pancreas, and Uterus;
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 PROTEIN SEQUENCE OF 49-57 AND 199-209, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RA Bienvenut W.V., Calvo F., Kolch W.;
RL Submitted (MAR-2008) to UniProtKB.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 88-336 (ISOFORM 2).
RC TISSUE=Kidney epithelium;
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).
CC -!- FUNCTION: May act as a GTPase-activating protein for Rab family
CC protein(s).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5TC63-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TC63-2; Sequence=VSP_025754, VSP_025755;
CC Name=3;
CC IsoId=Q5TC63-3; Sequence=VSP_025755;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH80640.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI12124.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI12126.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB449887; BAH16630.1; -; mRNA.
DR EMBL; AL136221; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471085; EAX09205.1; -; Genomic_DNA.
DR EMBL; BC033071; AAH33071.2; -; mRNA.
DR EMBL; BC062461; AAH62461.1; -; mRNA.
DR EMBL; BC080640; AAH80640.1; ALT_INIT; mRNA.
DR EMBL; BC112123; AAI12124.1; ALT_INIT; mRNA.
DR EMBL; BC112125; AAI12126.1; ALT_INIT; mRNA.
DR EMBL; AK026127; BAB15368.1; -; mRNA.
DR CCDS; CCDS66591.1; -. [Q5TC63-3]
DR CCDS; CCDS9534.2; -. [Q5TC63-1]
DR RefSeq; NP_001273661.1; NM_001286732.1. [Q5TC63-3]
DR RefSeq; NP_001273662.1; NM_001286733.1.
DR RefSeq; NP_078995.2; NM_024719.3. [Q5TC63-1]
DR RefSeq; XP_016876244.1; XM_017020755.1. [Q5TC63-2]
DR AlphaFoldDB; Q5TC63; -.
DR SMR; Q5TC63; -.
DR BioGRID; 122876; 12.
DR IntAct; Q5TC63; 6.
DR STRING; 9606.ENSP00000364579; -.
DR iPTMnet; Q5TC63; -.
DR PhosphoSitePlus; Q5TC63; -.
DR BioMuta; GRTP1; -.
DR DMDM; 206729933; -.
DR EPD; Q5TC63; -.
DR jPOST; Q5TC63; -.
DR MassIVE; Q5TC63; -.
DR MaxQB; Q5TC63; -.
DR PaxDb; Q5TC63; -.
DR PeptideAtlas; Q5TC63; -.
DR PRIDE; Q5TC63; -.
DR ProteomicsDB; 64938; -. [Q5TC63-1]
DR ProteomicsDB; 64939; -. [Q5TC63-2]
DR ProteomicsDB; 7516; -.
DR TopDownProteomics; Q5TC63-2; -. [Q5TC63-2]
DR Antibodypedia; 25922; 125 antibodies from 25 providers.
DR DNASU; 79774; -.
DR Ensembl; ENST00000326039.3; ENSP00000321850.3; ENSG00000139835.14. [Q5TC63-2]
DR Ensembl; ENST00000375430.8; ENSP00000364579.4; ENSG00000139835.14. [Q5TC63-3]
DR Ensembl; ENST00000375431.9; ENSP00000364580.3; ENSG00000139835.14. [Q5TC63-1]
DR GeneID; 79774; -.
DR KEGG; hsa:79774; -.
DR MANE-Select; ENST00000375431.9; ENSP00000364580.3; NM_024719.4; NP_078995.2.
DR UCSC; uc001vtn.5; human. [Q5TC63-1]
DR CTD; 79774; -.
DR DisGeNET; 79774; -.
DR GeneCards; GRTP1; -.
DR HGNC; HGNC:20310; GRTP1.
DR HPA; ENSG00000139835; Tissue enhanced (liver).
DR neXtProt; NX_Q5TC63; -.
DR OpenTargets; ENSG00000139835; -.
DR PharmGKB; PA134908043; -.
DR VEuPathDB; HostDB:ENSG00000139835; -.
DR eggNOG; KOG2058; Eukaryota.
DR GeneTree; ENSGT00940000154927; -.
DR HOGENOM; CLU_005350_1_0_1; -.
DR InParanoid; Q5TC63; -.
DR OMA; DTMIQDS; -.
DR OrthoDB; 1162786at2759; -.
DR PhylomeDB; Q5TC63; -.
DR TreeFam; TF105771; -.
DR PathwayCommons; Q5TC63; -.
DR SignaLink; Q5TC63; -.
DR BioGRID-ORCS; 79774; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; GRTP1; human.
DR GenomeRNAi; 79774; -.
DR Pharos; Q5TC63; Tdark.
DR PRO; PR:Q5TC63; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q5TC63; protein.
DR Bgee; ENSG00000139835; Expressed in oocyte and 146 other tissues.
DR ExpressionAtlas; Q5TC63; baseline and differential.
DR Genevisible; Q5TC63; HS.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR InterPro; IPR000195; Rab-GTPase-TBC_dom.
DR InterPro; IPR035969; Rab-GTPase_TBC_sf.
DR Pfam; PF00566; RabGAP-TBC; 1.
DR SMART; SM00164; TBC; 1.
DR SUPFAM; SSF47923; SSF47923; 2.
DR PROSITE; PS50086; TBC_RABGAP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Direct protein sequencing; GTPase activation;
KW Reference proteome.
FT CHAIN 1..336
FT /note="Growth hormone-regulated TBC protein 1"
FT /id="PRO_0000288708"
FT DOMAIN 68..258
FT /note="Rab-GAP TBC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00163"
FT VAR_SEQ 1..78
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_025754"
FT VAR_SEQ 308..336
FT /note="KIFSEPGSLSMATVAKLRESCRARLLAQG -> VCGAARGSVPSQGAPPHLQ
FT PGGCSDHPEGAQDGHQWA (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:19077034"
FT /id="VSP_025755"
FT CONFLICT 282
FT /note="S -> T (in Ref. 4; AAH33071)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 336 AA; 38554 MW; 91CE9EAF71BB131C CRC64;
MQPAERSRVP RIDPYGFERP EDFDDAAYEK FFSSYLVTLT RRAIKWSRLL QGGGVPRSRT
VKRYVRKGVP LEHRARVWMV LSGAQAQMDQ NPGYYHQLLQ GERNPRLEDA IRTDLNRTFP
DNVKFRKTTD PCLQRTLYNV LLAYGHHNQG VGYCQGMNFI AGYLILITNN EEESFWLLDA
LVGRILPDYY SPAMLGLKTD QEVLGELVRA KLPAVGALME RLGVLWTLLV SRWFICLFVD
ILPVETVLRI WDCLFNEGSK IIFRVALTLI KQHQELILEA TSVPDICDKF KQITKGSFVM
ECHTFMQKIF SEPGSLSMAT VAKLRESCRA RLLAQG
