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P51148

- RAB5C_HUMAN

UniProt

P51148 - RAB5C_HUMAN

Protein

Ras-related protein Rab-5C

Gene

RAB5C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (31 Oct 2003)
      Previous versions | rss
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    Functioni

    Protein transport. Probably involved in vesicular traffic By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi28 – 358GTPBy similarity
    Nucleotide bindingi76 – 805GTPBy similarity
    Nucleotide bindingi134 – 1374GTPBy similarity

    GO - Molecular functioni

    1. GDP binding Source: UniProtKB
    2. GTPase activity Source: ProtInc
    3. GTP binding Source: UniProtKB-KW

    GO - Biological processi

    1. endosome organization Source: Ensembl
    2. GTP catabolic process Source: GOC
    3. protein transport Source: UniProtKB-KW
    4. regulation of endocytosis Source: Ensembl
    5. small GTPase mediated signal transduction Source: InterPro

    Keywords - Biological processi

    Protein transport, Transport

    Keywords - Ligandi

    GTP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_19400. Golgi Associated Vesicle Biogenesis.
    SignaLinkiP51148.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ras-related protein Rab-5C
    Alternative name(s):
    L1880
    RAB5L
    Gene namesi
    Name:RAB5C
    Synonyms:RABL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:9785. RAB5C.

    Subcellular locationi

    Cell membrane By similarity; Lipid-anchor By similarity; Cytoplasmic side By similarity. Early endosome membrane By similarity; Lipid-anchor By similarity. Melanosome 1 Publication
    Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

    GO - Cellular componenti

    1. early endosome membrane Source: UniProtKB-SubCell
    2. endocytic vesicle Source: Ensembl
    3. extracellular vesicular exosome Source: UniProt
    4. intracellular membrane-bounded organelle Source: HPA
    5. lipid particle Source: UniProtKB
    6. lysosomal membrane Source: UniProtKB
    7. melanosome Source: UniProtKB-SubCell
    8. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Endosome, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34145.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 216216Ras-related protein Rab-5CPRO_0000121110Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi213 – 2131S-geranylgeranyl cysteineBy similarity
    Lipidationi214 – 2141S-geranylgeranyl cysteineBy similarity

    Keywords - PTMi

    Lipoprotein, Prenylation

    Proteomic databases

    MaxQBiP51148.
    PaxDbiP51148.
    PeptideAtlasiP51148.
    PRIDEiP51148.

    PTM databases

    PhosphoSiteiP51148.

    Expressioni

    Gene expression databases

    ArrayExpressiP51148.
    BgeeiP51148.
    CleanExiHS_RAB5C.
    GenevestigatoriP51148.

    Organism-specific databases

    HPAiHPA003426.

    Interactioni

    Subunit structurei

    Binds EEA1.

    Protein-protein interaction databases

    BioGridi111816. 24 interactions.
    IntActiP51148. 10 interactions.
    MINTiMINT-4999312.
    STRINGi9606.ENSP00000345689.

    Structurei

    3D structure databases

    ProteinModelPortaliP51148.
    SMRiP51148. Positions 19-182.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi50 – 589Effector regionSequence Analysis

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. Rab family.Curated

    Phylogenomic databases

    eggNOGiCOG1100.
    HOGENOMiHOG000233968.
    HOVERGENiHBG009351.
    InParanoidiP51148.
    KOiK07889.
    OMAiANLLFFE.
    PhylomeDBiP51148.
    TreeFamiTF300199.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR001806. Small_GTPase.
    IPR003579. Small_GTPase_Rab_type.
    [Graphical view]
    PfamiPF00071. Ras. 1 hit.
    [Graphical view]
    PRINTSiPR00449. RASTRNSFRMNG.
    SMARTiSM00175. RAB. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    TIGRFAMsiTIGR00231. small_GTP. 1 hit.
    PROSITEiPS51419. RAB. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P51148-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGRGGAARP NGPAAGNKIC QFKLVLLGES AVGKSSLVLR FVKGQFHEYQ    50
    ESTIGAAFLT QTVCLDDTTV KFEIWDTAGQ ERYHSLAPMY YRGAQAAIVV 100
    YDITNTDTFA RAKNWVKELQ RQASPNIVIA LAGNKADLAS KRAVEFQEAQ 150
    AYADDNSLLF METSAKTAMN VNEIFMAIAK KLPKNEPQNA TGAPGRNRGV 200
    DLQENNPASR SQCCSN 216
    Length:216
    Mass (Da):23,483
    Last modified:October 31, 2003 - v2
    Checksum:iAA42096C6EED77ED
    GO
    Isoform 2 (identifier: P51148-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MELSWRSPSPLSASLHSTSPHPHALWTTTAGRAM

    Note: No experimental confirmation available.

    Show »
    Length:249
    Mass (Da):27,036
    Checksum:iCAF9CB42B04DBDEF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81A → R(PubMed:8646882)Curated
    Sequence conflicti8 – 81A → R(PubMed:7951316)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401R → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036414

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MELSWRSPSPLSASLHSTSP HPHALWTTTAGRAM in isoform 2. 1 PublicationVSP_046035

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U18420 mRNA. Translation: AAB08927.1.
    U11293 mRNA. Translation: AAA74081.1.
    AF141304 mRNA. Translation: AAF66594.1.
    AF498938 mRNA. Translation: AAM21086.1.
    AK310234 mRNA. No translation available.
    CR541901 mRNA. Translation: CAG46699.1.
    BT019484 mRNA. Translation: AAV38291.1.
    AC003104 Genomic DNA. No translation available.
    AC099811 Genomic DNA. No translation available.
    AC105024 Genomic DNA. No translation available.
    CH471152 Genomic DNA. Translation: EAW60805.1.
    BC106039 mRNA. Translation: AAI06040.1.
    BC114439 mRNA. Translation: AAI14440.1.
    CCDSiCCDS11419.1. [P51148-1]
    CCDS58551.1. [P51148-2]
    PIRiI38703.
    RefSeqiNP_001238968.1. NM_001252039.1. [P51148-2]
    NP_004574.2. NM_004583.3. [P51148-1]
    NP_958842.1. NM_201434.2. [P51148-1]
    UniGeneiHs.650382.

    Genome annotation databases

    EnsembliENST00000346213; ENSP00000345689; ENSG00000108774. [P51148-1]
    ENST00000393860; ENSP00000377440; ENSG00000108774. [P51148-1]
    ENST00000547517; ENSP00000447053; ENSG00000108774. [P51148-2]
    GeneIDi5878.
    KEGGihsa:5878.
    UCSCiuc002hyz.3. human. [P51148-1]

    Polymorphism databases

    DMDMi38258923.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U18420 mRNA. Translation: AAB08927.1 .
    U11293 mRNA. Translation: AAA74081.1 .
    AF141304 mRNA. Translation: AAF66594.1 .
    AF498938 mRNA. Translation: AAM21086.1 .
    AK310234 mRNA. No translation available.
    CR541901 mRNA. Translation: CAG46699.1 .
    BT019484 mRNA. Translation: AAV38291.1 .
    AC003104 Genomic DNA. No translation available.
    AC099811 Genomic DNA. No translation available.
    AC105024 Genomic DNA. No translation available.
    CH471152 Genomic DNA. Translation: EAW60805.1 .
    BC106039 mRNA. Translation: AAI06040.1 .
    BC114439 mRNA. Translation: AAI14440.1 .
    CCDSi CCDS11419.1. [P51148-1 ]
    CCDS58551.1. [P51148-2 ]
    PIRi I38703.
    RefSeqi NP_001238968.1. NM_001252039.1. [P51148-2 ]
    NP_004574.2. NM_004583.3. [P51148-1 ]
    NP_958842.1. NM_201434.2. [P51148-1 ]
    UniGenei Hs.650382.

    3D structure databases

    ProteinModelPortali P51148.
    SMRi P51148. Positions 19-182.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111816. 24 interactions.
    IntActi P51148. 10 interactions.
    MINTi MINT-4999312.
    STRINGi 9606.ENSP00000345689.

    PTM databases

    PhosphoSitei P51148.

    Polymorphism databases

    DMDMi 38258923.

    Proteomic databases

    MaxQBi P51148.
    PaxDbi P51148.
    PeptideAtlasi P51148.
    PRIDEi P51148.

    Protocols and materials databases

    DNASUi 5878.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000346213 ; ENSP00000345689 ; ENSG00000108774 . [P51148-1 ]
    ENST00000393860 ; ENSP00000377440 ; ENSG00000108774 . [P51148-1 ]
    ENST00000547517 ; ENSP00000447053 ; ENSG00000108774 . [P51148-2 ]
    GeneIDi 5878.
    KEGGi hsa:5878.
    UCSCi uc002hyz.3. human. [P51148-1 ]

    Organism-specific databases

    CTDi 5878.
    GeneCardsi GC17M040276.
    HGNCi HGNC:9785. RAB5C.
    HPAi HPA003426.
    MIMi 604037. gene.
    neXtProti NX_P51148.
    PharmGKBi PA34145.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1100.
    HOGENOMi HOG000233968.
    HOVERGENi HBG009351.
    InParanoidi P51148.
    KOi K07889.
    OMAi ANLLFFE.
    PhylomeDBi P51148.
    TreeFami TF300199.

    Enzyme and pathway databases

    Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.
    SignaLinki P51148.

    Miscellaneous databases

    GeneWikii RAB5C.
    GenomeRNAii 5878.
    NextBioi 22840.
    PROi P51148.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P51148.
    Bgeei P51148.
    CleanExi HS_RAB5C.
    Genevestigatori P51148.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR001806. Small_GTPase.
    IPR003579. Small_GTPase_Rab_type.
    [Graphical view ]
    Pfami PF00071. Ras. 1 hit.
    [Graphical view ]
    PRINTSi PR00449. RASTRNSFRMNG.
    SMARTi SM00175. RAB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR00231. small_GTP. 1 hit.
    PROSITEi PS51419. RAB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and mapping of a human gene (RABL) encoding a small GTP-binding protein homologous to the Ras-related RAB gene."
      Han H.J., Sudo K., Inazawa J., Nakamura Y.
      Cytogenet. Cell Genet. 73:137-139(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Deviant expression of Rab5 on phagosomes containing the intracellular pathogens Mycobacterium tuberculosis and Legionella pneumophila is associated with altered phagosomal fate."
      Clemens D.L., Lee B.-Y., Horwitz M.A.
      Infect. Immun. 68:2671-2684(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lung.
    4. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Puhl H.L. III, Ikeda S.R., Aronstam R.S.
      Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    8. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    11. "Determinants of Rab5 interaction with the N-terminus of early endosome antigen 1."
      Merithew E., Stone C., Eathiraj S., Lambright D.G.
      J. Biol. Chem. 278:8494-8500(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EEA1.
    12. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-40.

    Entry informationi

    Entry nameiRAB5C_HUMAN
    AccessioniPrimary (citable) accession number: P51148
    Secondary accession number(s): F8W1H5, Q6FH55, Q9P0Y5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 31, 2003
    Last modified: October 1, 2014
    This is version 141 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3