RBG10_HUMAN
ID RBG10_HUMAN Reviewed; 253 AA.
AC B7ZAP0; B7ZAA4;
DT 13-JUN-2012, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 1.
DT 03-AUG-2022, entry version 85.
DE RecName: Full=Rab GTPase-activating protein 1-like, isoform 10;
GN Name=RABGAP1L; Synonyms=HHL, KIAA0471;
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 10).
RC TISSUE=Synovial cell;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=10;
CC Name=10; Synonyms=D;
CC IsoId=B7ZAP0-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q5R372-1; Sequence=External;
CC Name=2;
CC IsoId=Q5R372-2; Sequence=External;
CC Name=3;
CC IsoId=Q5R372-3; Sequence=External;
CC Name=4;
CC IsoId=Q5R372-4; Sequence=External;
CC Name=5;
CC IsoId=Q5R372-5; Sequence=External;
CC Name=6;
CC IsoId=Q5R372-6; Sequence=External;
CC Name=7;
CC IsoId=Q5R372-7; Sequence=External;
CC Name=8;
CC IsoId=Q5R372-8; Sequence=External;
CC Name=9;
CC IsoId=Q5R372-9; Sequence=External;
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DR EMBL; AK316219; BAH14590.1; -; mRNA.
DR EMBL; AK316355; BAH14726.1; -; mRNA.
DR EMBL; AL008735; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL021069; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL022171; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL022400; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031278; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031286; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136377; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL161671; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591108; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z99127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS55662.1; -. [B7ZAP0-1]
DR RefSeq; NP_001230693.1; NM_001243764.1. [B7ZAP0-1]
DR RefSeq; XP_016858487.1; XM_017002998.1.
DR AlphaFoldDB; B7ZAP0; -.
DR SMR; B7ZAP0; -.
DR BioGRID; 115239; 116.
DR IntAct; B7ZAP0; 1.
DR iPTMnet; B7ZAP0; -.
DR PhosphoSitePlus; B7ZAP0; -.
DR BioMuta; RABGAP1L; -.
DR jPOST; B7ZAP0; -.
DR MassIVE; B7ZAP0; -.
DR PeptideAtlas; B7ZAP0; -.
DR PRIDE; B7ZAP0; -.
DR ProteomicsDB; 7075; -. [B7ZAP0-1]
DR Antibodypedia; 34402; 80 antibodies from 21 providers.
DR DNASU; 9910; -.
DR Ensembl; ENST00000367688.3; ENSP00000356661.3; ENSG00000152061.24. [B7ZAP0-1]
DR GeneID; 9910; -.
DR KEGG; hsa:9910; -.
DR UCSC; uc010pmv.3; human. [B7ZAP0-1]
DR CTD; 9910; -.
DR DisGeNET; 9910; -.
DR GeneCards; RABGAP1L; -.
DR HGNC; HGNC:24663; RABGAP1L.
DR HPA; ENSG00000152061; Tissue enhanced (heart).
DR neXtProt; NX_B7ZAP0; -.
DR OpenTargets; ENSG00000152061; -.
DR VEuPathDB; HostDB:ENSG00000152061; -.
DR GeneTree; ENSGT00940000154611; -.
DR HOGENOM; CLU_022409_0_0_1; -.
DR OrthoDB; 191811at2759; -.
DR PathwayCommons; B7ZAP0; -.
DR SignaLink; B7ZAP0; -.
DR BioGRID-ORCS; 9910; 20 hits in 1083 CRISPR screens.
DR ChiTaRS; RABGAP1L; human.
DR GenomeRNAi; 9910; -.
DR Pharos; B7ZAP0; Tbio.
DR Proteomes; UP000005640; Chromosome 1.
DR Bgee; ENSG00000152061; Expressed in calcaneal tendon and 203 other tissues.
DR ExpressionAtlas; B7ZAP0; baseline and differential.
DR Genevisible; B7ZAP0; HS.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..253
FT /note="Rab GTPase-activating protein 1-like, isoform 10"
FT /id="PRO_0000417613"
FT REGION 233..253
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 8..222
FT /evidence="ECO:0000255"
FT CONFLICT 89
FT /note="V -> A (in Ref. 1; BAH14590)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 253 AA; 29038 MW; 3F7A7E4D6197856C CRC64;
MIENSSWSMT FEERENRRLQ EASMRLEQEN DDLAHELVTS KIALRNDLDQ AEDKADVLNK
ELLLTKQRLV ETEEEKRKQE EETAQLKEVF RKQLEKAEYE IKKTTAIIAE YKQICSQLST
RLEKQQAASK EELEVVKGKM MACKHCSDIF SKEGALKLAA TGREDQGIET DDEKDSLKKQ
LREMELELAQ TKLQLVEAKC KIQELEHQRG ALMNEIQAAK NSWFSKTLNS IKTATGTQPL
QPAPVTQPPK EST