Full text data of RAB5C
RAB5C
(RABL)
[Confidence: high (present in two of the MS resources)]
Ras-related protein Rab-5C (L1880; RAB5L)
Ras-related protein Rab-5C (L1880; RAB5L)
hRBCD
IPI00016339
IPI00016339 Ras-related protein Rab-5C Ras-related protein Rab-5C membrane n/a n/a 1 n/a n/a n/a n/a n/a 3 n/a n/a 2 n/a n/a n/a n/a n/a 2 2 n/a inner surface of plasma membrane, Plasma membrane-associated n/a found at its expected molecular weight found at molecular weight
IPI00016339 Ras-related protein Rab-5C Ras-related protein Rab-5C membrane n/a n/a 1 n/a n/a n/a n/a n/a 3 n/a n/a 2 n/a n/a n/a n/a n/a 2 2 n/a inner surface of plasma membrane, Plasma membrane-associated n/a found at its expected molecular weight found at molecular weight
UniProt
P51148
ID RAB5C_HUMAN Reviewed; 216 AA.
AC P51148; F8W1H5; Q6FH55; Q9P0Y5;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 31-OCT-2003, sequence version 2.
DT 22-JAN-2014, entry version 133.
DE RecName: Full=Ras-related protein Rab-5C;
DE AltName: Full=L1880;
DE AltName: Full=RAB5L;
GN Name=RAB5C; Synonyms=RABL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=8646882;
RA Han H.J., Sudo K., Inazawa J., Nakamura Y.;
RT "Isolation and mapping of a human gene (RABL) encoding a small GTP-
RT binding protein homologous to the Ras-related RAB gene.";
RL Cytogenet. Cell Genet. 73:137-139(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7951316; DOI=10.1038/ng0894-472;
RA Albertsen H.M., Smith S.A., Mazoyer S., Fujimoto E., Stevens J.,
RA Williams B., Rodriguez P., Cropp C.S., Slijepcevic P., Carlson M.,
RA Robertson M., Bradley P., Lawrence E., Harrington T., Sheng Z.M.,
RA Hoopes R., Sternberg N., Brothman A., Callahan R., Ponder B.A.J.,
RA White R.;
RT "A physical map and candidate genes in the BRCA1 region on chromosome
RT 17q12-21.";
RL Nat. Genet. 7:472-479(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=10768959; DOI=10.1128/IAI.68.5.2671-2684.2000;
RA Clemens D.L., Lee B.-Y., Horwitz M.A.;
RT "Deviant expression of Rab5 on phagosomes containing the intracellular
RT pathogens Mycobacterium tuberculosis and Legionella pneumophila is
RT associated with altered phagosomal fate.";
RL Infect. Immun. 68:2671-2684(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RA Puhl H.L. III, Ikeda S.R., Aronstam R.S.;
RT "cDNA clones of human proteins involved in signal transduction
RT sequenced by the Guthrie cDNA resource center (www.cdna.org).";
RL Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [11]
RP INTERACTION WITH EEA1.
RX PubMed=12493736; DOI=10.1074/jbc.M211514200;
RA Merithew E., Stone C., Eathiraj S., Lambright D.G.;
RT "Determinants of Rab5 interaction with the N-terminus of early
RT endosome antigen 1.";
RL J. Biol. Chem. 278:8494-8500(2003).
RN [12]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H.,
RA Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R.,
RA Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E.,
RA Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
RN [13]
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.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [14]
RP VARIANT [LARGE SCALE ANALYSIS] HIS-40.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Protein transport. Probably involved in vesicular
CC traffic (By similarity).
CC -!- SUBUNIT: Binds EEA1.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic
CC side (By similarity). Early endosome membrane; Lipid-anchor (By
CC similarity). Melanosome. Note=Identified by mass spectrometry in
CC melanosome fractions from stage I to stage IV.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P51148-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P51148-2; Sequence=VSP_046035;
CC Note=No experimental confirmation available;
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
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DR EMBL; U18420; AAB08927.1; -; mRNA.
DR EMBL; U11293; AAA74081.1; -; mRNA.
DR EMBL; AF141304; AAF66594.1; -; mRNA.
DR EMBL; AF498938; AAM21086.1; -; mRNA.
DR EMBL; AK310234; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR541901; CAG46699.1; -; mRNA.
DR EMBL; BT019484; AAV38291.1; -; mRNA.
DR EMBL; AC003104; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105024; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60805.1; -; Genomic_DNA.
DR EMBL; BC106039; AAI06040.1; -; mRNA.
DR EMBL; BC114439; AAI14440.1; -; mRNA.
DR PIR; I38703; I38703.
DR RefSeq; NP_001238968.1; NM_001252039.1.
DR RefSeq; NP_004574.2; NM_004583.3.
DR RefSeq; NP_958842.1; NM_201434.2.
DR UniGene; Hs.650382; -.
DR ProteinModelPortal; P51148; -.
DR SMR; P51148; 19-182.
DR IntAct; P51148; 10.
DR MINT; MINT-4999312; -.
DR STRING; 9606.ENSP00000345689; -.
DR PhosphoSite; P51148; -.
DR DMDM; 38258923; -.
DR PaxDb; P51148; -.
DR PeptideAtlas; P51148; -.
DR PRIDE; P51148; -.
DR DNASU; 5878; -.
DR Ensembl; ENST00000346213; ENSP00000345689; ENSG00000108774.
DR Ensembl; ENST00000393860; ENSP00000377440; ENSG00000108774.
DR Ensembl; ENST00000547517; ENSP00000447053; ENSG00000108774.
DR Ensembl; ENST00000565751; ENSP00000457972; ENSG00000261378.
DR Ensembl; ENST00000570252; ENSP00000455563; ENSG00000261378.
DR GeneID; 5878; -.
DR KEGG; hsa:5878; -.
DR UCSC; uc010cxx.3; human.
DR CTD; 5878; -.
DR GeneCards; GC17M040276; -.
DR HGNC; HGNC:9785; RAB5C.
DR HPA; HPA003426; -.
DR MIM; 604037; gene.
DR neXtProt; NX_P51148; -.
DR PharmGKB; PA34145; -.
DR eggNOG; COG1100; -.
DR HOGENOM; HOG000233968; -.
DR HOVERGEN; HBG009351; -.
DR InParanoid; P51148; -.
DR KO; K07889; -.
DR OMA; ANLLFFE; -.
DR PhylomeDB; P51148; -.
DR Reactome; REACT_11123; Membrane Trafficking.
DR SignaLink; P51148; -.
DR GeneWiki; RAB5C; -.
DR GenomeRNAi; 5878; -.
DR NextBio; 22840; -.
DR PRO; PR:P51148; -.
DR ArrayExpress; P51148; -.
DR Bgee; P51148; -.
DR CleanEx; HS_RAB5C; -.
DR Genevestigator; P51148; -.
DR GO; GO:0031901; C:early endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0030139; C:endocytic vesicle; IEA:Ensembl.
DR GO; GO:0005811; C:lipid particle; IDA:UniProtKB.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0019003; F:GDP binding; IDA:UniProtKB.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; TAS:ProtInc.
DR GO; GO:0007032; P:endosome organization; IEA:Ensembl.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0030100; P:regulation of endocytosis; IEA:Ensembl.
DR GO; GO:0007264; P:small GTPase mediated signal transduction; IEA:InterPro.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR005225; Small_GTP-bd_dom.
DR InterPro; IPR001806; Small_GTPase.
DR InterPro; IPR003579; Small_GTPase_Rab_type.
DR Pfam; PF00071; Ras; 1.
DR PRINTS; PR00449; RASTRNSFRMNG.
DR SMART; SM00175; RAB; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR TIGRFAMs; TIGR00231; small_GTP; 1.
DR PROSITE; PS51419; RAB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Complete proteome; Endosome;
KW GTP-binding; Lipoprotein; Membrane; Nucleotide-binding; Polymorphism;
KW Prenylation; Protein transport; Reference proteome; Transport.
FT CHAIN 1 216 Ras-related protein Rab-5C.
FT /FTId=PRO_0000121110.
FT NP_BIND 28 35 GTP (By similarity).
FT NP_BIND 76 80 GTP (By similarity).
FT NP_BIND 134 137 GTP (By similarity).
FT MOTIF 50 58 Effector region (Potential).
FT LIPID 213 213 S-geranylgeranyl cysteine (By
FT similarity).
FT LIPID 214 214 S-geranylgeranyl cysteine (By
FT similarity).
FT VAR_SEQ 1 1 M -> MELSWRSPSPLSASLHSTSPHPHALWTTTAGRAM
FT (in isoform 2).
FT /FTId=VSP_046035.
FT VARIANT 40 40 R -> H (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_036414.
FT CONFLICT 8 8 A -> R (in Ref. 1 and 2).
SQ SEQUENCE 216 AA; 23483 MW; AA42096C6EED77ED CRC64;
MAGRGGAARP NGPAAGNKIC QFKLVLLGES AVGKSSLVLR FVKGQFHEYQ ESTIGAAFLT
QTVCLDDTTV KFEIWDTAGQ ERYHSLAPMY YRGAQAAIVV YDITNTDTFA RAKNWVKELQ
RQASPNIVIA LAGNKADLAS KRAVEFQEAQ AYADDNSLLF METSAKTAMN VNEIFMAIAK
KLPKNEPQNA TGAPGRNRGV DLQENNPASR SQCCSN
//
ID RAB5C_HUMAN Reviewed; 216 AA.
AC P51148; F8W1H5; Q6FH55; Q9P0Y5;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 31-OCT-2003, sequence version 2.
DT 22-JAN-2014, entry version 133.
DE RecName: Full=Ras-related protein Rab-5C;
DE AltName: Full=L1880;
DE AltName: Full=RAB5L;
GN Name=RAB5C; Synonyms=RABL;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=8646882;
RA Han H.J., Sudo K., Inazawa J., Nakamura Y.;
RT "Isolation and mapping of a human gene (RABL) encoding a small GTP-
RT binding protein homologous to the Ras-related RAB gene.";
RL Cytogenet. Cell Genet. 73:137-139(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=7951316; DOI=10.1038/ng0894-472;
RA Albertsen H.M., Smith S.A., Mazoyer S., Fujimoto E., Stevens J.,
RA Williams B., Rodriguez P., Cropp C.S., Slijepcevic P., Carlson M.,
RA Robertson M., Bradley P., Lawrence E., Harrington T., Sheng Z.M.,
RA Hoopes R., Sternberg N., Brothman A., Callahan R., Ponder B.A.J.,
RA White R.;
RT "A physical map and candidate genes in the BRCA1 region on chromosome
RT 17q12-21.";
RL Nat. Genet. 7:472-479(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Lung;
RX PubMed=10768959; DOI=10.1128/IAI.68.5.2671-2684.2000;
RA Clemens D.L., Lee B.-Y., Horwitz M.A.;
RT "Deviant expression of Rab5 on phagosomes containing the intracellular
RT pathogens Mycobacterium tuberculosis and Legionella pneumophila is
RT associated with altered phagosomal fate.";
RL Infect. Immun. 68:2671-2684(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RA Puhl H.L. III, Ikeda S.R., Aronstam R.S.;
RT "cDNA clones of human proteins involved in signal transduction
RT sequenced by the Guthrie cDNA resource center (www.cdna.org).";
RL Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [11]
RP INTERACTION WITH EEA1.
RX PubMed=12493736; DOI=10.1074/jbc.M211514200;
RA Merithew E., Stone C., Eathiraj S., Lambright D.G.;
RT "Determinants of Rab5 interaction with the N-terminus of early
RT endosome antigen 1.";
RL J. Biol. Chem. 278:8494-8500(2003).
RN [12]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H.,
RA Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R.,
RA Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E.,
RA Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
RN [13]
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.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [14]
RP VARIANT [LARGE SCALE ANALYSIS] HIS-40.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Protein transport. Probably involved in vesicular
CC traffic (By similarity).
CC -!- SUBUNIT: Binds EEA1.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic
CC side (By similarity). Early endosome membrane; Lipid-anchor (By
CC similarity). Melanosome. Note=Identified by mass spectrometry in
CC melanosome fractions from stage I to stage IV.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P51148-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P51148-2; Sequence=VSP_046035;
CC Note=No experimental confirmation available;
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
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DR EMBL; U18420; AAB08927.1; -; mRNA.
DR EMBL; U11293; AAA74081.1; -; mRNA.
DR EMBL; AF141304; AAF66594.1; -; mRNA.
DR EMBL; AF498938; AAM21086.1; -; mRNA.
DR EMBL; AK310234; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR541901; CAG46699.1; -; mRNA.
DR EMBL; BT019484; AAV38291.1; -; mRNA.
DR EMBL; AC003104; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105024; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60805.1; -; Genomic_DNA.
DR EMBL; BC106039; AAI06040.1; -; mRNA.
DR EMBL; BC114439; AAI14440.1; -; mRNA.
DR PIR; I38703; I38703.
DR RefSeq; NP_001238968.1; NM_001252039.1.
DR RefSeq; NP_004574.2; NM_004583.3.
DR RefSeq; NP_958842.1; NM_201434.2.
DR UniGene; Hs.650382; -.
DR ProteinModelPortal; P51148; -.
DR SMR; P51148; 19-182.
DR IntAct; P51148; 10.
DR MINT; MINT-4999312; -.
DR STRING; 9606.ENSP00000345689; -.
DR PhosphoSite; P51148; -.
DR DMDM; 38258923; -.
DR PaxDb; P51148; -.
DR PeptideAtlas; P51148; -.
DR PRIDE; P51148; -.
DR DNASU; 5878; -.
DR Ensembl; ENST00000346213; ENSP00000345689; ENSG00000108774.
DR Ensembl; ENST00000393860; ENSP00000377440; ENSG00000108774.
DR Ensembl; ENST00000547517; ENSP00000447053; ENSG00000108774.
DR Ensembl; ENST00000565751; ENSP00000457972; ENSG00000261378.
DR Ensembl; ENST00000570252; ENSP00000455563; ENSG00000261378.
DR GeneID; 5878; -.
DR KEGG; hsa:5878; -.
DR UCSC; uc010cxx.3; human.
DR CTD; 5878; -.
DR GeneCards; GC17M040276; -.
DR HGNC; HGNC:9785; RAB5C.
DR HPA; HPA003426; -.
DR MIM; 604037; gene.
DR neXtProt; NX_P51148; -.
DR PharmGKB; PA34145; -.
DR eggNOG; COG1100; -.
DR HOGENOM; HOG000233968; -.
DR HOVERGEN; HBG009351; -.
DR InParanoid; P51148; -.
DR KO; K07889; -.
DR OMA; ANLLFFE; -.
DR PhylomeDB; P51148; -.
DR Reactome; REACT_11123; Membrane Trafficking.
DR SignaLink; P51148; -.
DR GeneWiki; RAB5C; -.
DR GenomeRNAi; 5878; -.
DR NextBio; 22840; -.
DR PRO; PR:P51148; -.
DR ArrayExpress; P51148; -.
DR Bgee; P51148; -.
DR CleanEx; HS_RAB5C; -.
DR Genevestigator; P51148; -.
DR GO; GO:0031901; C:early endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0030139; C:endocytic vesicle; IEA:Ensembl.
DR GO; GO:0005811; C:lipid particle; IDA:UniProtKB.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0019003; F:GDP binding; IDA:UniProtKB.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; TAS:ProtInc.
DR GO; GO:0007032; P:endosome organization; IEA:Ensembl.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0030100; P:regulation of endocytosis; IEA:Ensembl.
DR GO; GO:0007264; P:small GTPase mediated signal transduction; IEA:InterPro.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR005225; Small_GTP-bd_dom.
DR InterPro; IPR001806; Small_GTPase.
DR InterPro; IPR003579; Small_GTPase_Rab_type.
DR Pfam; PF00071; Ras; 1.
DR PRINTS; PR00449; RASTRNSFRMNG.
DR SMART; SM00175; RAB; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR TIGRFAMs; TIGR00231; small_GTP; 1.
DR PROSITE; PS51419; RAB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Complete proteome; Endosome;
KW GTP-binding; Lipoprotein; Membrane; Nucleotide-binding; Polymorphism;
KW Prenylation; Protein transport; Reference proteome; Transport.
FT CHAIN 1 216 Ras-related protein Rab-5C.
FT /FTId=PRO_0000121110.
FT NP_BIND 28 35 GTP (By similarity).
FT NP_BIND 76 80 GTP (By similarity).
FT NP_BIND 134 137 GTP (By similarity).
FT MOTIF 50 58 Effector region (Potential).
FT LIPID 213 213 S-geranylgeranyl cysteine (By
FT similarity).
FT LIPID 214 214 S-geranylgeranyl cysteine (By
FT similarity).
FT VAR_SEQ 1 1 M -> MELSWRSPSPLSASLHSTSPHPHALWTTTAGRAM
FT (in isoform 2).
FT /FTId=VSP_046035.
FT VARIANT 40 40 R -> H (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_036414.
FT CONFLICT 8 8 A -> R (in Ref. 1 and 2).
SQ SEQUENCE 216 AA; 23483 MW; AA42096C6EED77ED CRC64;
MAGRGGAARP NGPAAGNKIC QFKLVLLGES AVGKSSLVLR FVKGQFHEYQ ESTIGAAFLT
QTVCLDDTTV KFEIWDTAGQ ERYHSLAPMY YRGAQAAIVV YDITNTDTFA RAKNWVKELQ
RQASPNIVIA LAGNKADLAS KRAVEFQEAQ AYADDNSLLF METSAKTAMN VNEIFMAIAK
KLPKNEPQNA TGAPGRNRGV DLQENNPASR SQCCSN
//
MIM
604037
*RECORD*
*FIELD* NO
604037
*FIELD* TI
*604037 RAS-ASSOCIATED PROTEIN RAB5C; RAB5C
;;RAB-LIKE, FORMERLY; RABL, FORMERLY
*FIELD* TX
read more
DESCRIPTION
Members of the Rab protein family are small GTPases of the Ras
superfamily that are thought to ensure fidelity in the process of
docking and/or fusion of vesicles with their correct acceptor
compartment (Han et al., 1996).
CLONING
Han et al. (1996) isolated fetal lung cDNAs encoding a RAB protein that
they designated RABL (RAB5-like). The predicted 216-amino acid RABL
protein shares 86% identity with RAB5A (179512) and RAB5B (179514) and
contains the conserved GTP-binding site characteristic of RAS proteins.
RT-PCR analysis revealed that RABL is expressed ubiquitously.
MAPPING
By analysis of cloned segments, Albertsen et al. (1994) determined that
the RAB5C gene, which they called BC1-16, is located in the BRCA1
(113705) gene region on chromosome 17q12-q21. Han et al. (1996) refined
the map position to 17q21.2 using FISH.
*FIELD* RF
1. Albertsen, H. M.; Smith, S. A.; Mazoyer, S.; Fujimoto, E.; Stevens,
J.; Williams, B.; Rodriguez, P.; Cropp, C. S.; Slijepcevic, P.; Carlson,
M.; Robertson, M.; Bradley, P.; and 9 others: A physical map and
candidate genes in the BRCA1 region on chromosome 17q12-21. Nature
Genet. 7: 472-479, 1994.
2. Han, H.-J.; Sudo, K.; Inazawa, J.; Nakamura, Y.: Isolation and
mapping of a human gene (RABL) encoding a small GTP-binding protein
homologous to the Ras-related RAB gene. Cytogenet. Cell Genet. 73:
137-139, 1996.
*FIELD* CD
Rebekah S. Rasooly: 7/21/1999
*FIELD* ED
wwang: 11/24/2010
mgross: 5/16/2000
jlewis: 7/22/1999
*RECORD*
*FIELD* NO
604037
*FIELD* TI
*604037 RAS-ASSOCIATED PROTEIN RAB5C; RAB5C
;;RAB-LIKE, FORMERLY; RABL, FORMERLY
*FIELD* TX
read more
DESCRIPTION
Members of the Rab protein family are small GTPases of the Ras
superfamily that are thought to ensure fidelity in the process of
docking and/or fusion of vesicles with their correct acceptor
compartment (Han et al., 1996).
CLONING
Han et al. (1996) isolated fetal lung cDNAs encoding a RAB protein that
they designated RABL (RAB5-like). The predicted 216-amino acid RABL
protein shares 86% identity with RAB5A (179512) and RAB5B (179514) and
contains the conserved GTP-binding site characteristic of RAS proteins.
RT-PCR analysis revealed that RABL is expressed ubiquitously.
MAPPING
By analysis of cloned segments, Albertsen et al. (1994) determined that
the RAB5C gene, which they called BC1-16, is located in the BRCA1
(113705) gene region on chromosome 17q12-q21. Han et al. (1996) refined
the map position to 17q21.2 using FISH.
*FIELD* RF
1. Albertsen, H. M.; Smith, S. A.; Mazoyer, S.; Fujimoto, E.; Stevens,
J.; Williams, B.; Rodriguez, P.; Cropp, C. S.; Slijepcevic, P.; Carlson,
M.; Robertson, M.; Bradley, P.; and 9 others: A physical map and
candidate genes in the BRCA1 region on chromosome 17q12-21. Nature
Genet. 7: 472-479, 1994.
2. Han, H.-J.; Sudo, K.; Inazawa, J.; Nakamura, Y.: Isolation and
mapping of a human gene (RABL) encoding a small GTP-binding protein
homologous to the Ras-related RAB gene. Cytogenet. Cell Genet. 73:
137-139, 1996.
*FIELD* CD
Rebekah S. Rasooly: 7/21/1999
*FIELD* ED
wwang: 11/24/2010
mgross: 5/16/2000
jlewis: 7/22/1999