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Q5SYC1

- CLVS2_HUMAN

UniProt

Q5SYC1 - CLVS2_HUMAN

Protein

Clavesin-2

Gene

CLVS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Functioni

    Required for normal morphology of late endosomes and/or lysosomes in neurons By similarity. Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).By similarity1 Publication

    GO - Molecular functioni

    1. phosphatidylinositol-3,5-bisphosphate binding Source: UniProtKB
    2. transporter activity Source: InterPro

    GO - Biological processi

    1. lysosome organization Source: UniProtKB

    Keywords - Ligandi

    Lipid-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Clavesin-2
    Alternative name(s):
    Retinaldehyde-binding protein 1-like 2
    Gene namesi
    Name:CLVS2
    Synonyms:C6orf212, C6orf213, RLBP1L2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:23046. CLVS2.

    Subcellular locationi

    Golgi apparatustrans-Golgi network membrane By similarity; Peripheral membrane protein By similarity. Cytoplasmic vesicleclathrin-coated vesicle By similarity. Early endosome membrane 1 Publication; Peripheral membrane protein 1 Publication

    GO - Cellular componenti

    1. clathrin-coated vesicle Source: UniProtKB
    2. early endosome membrane Source: UniProtKB-SubCell
    3. endosome Source: UniProtKB
    4. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Endosome, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165617885.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 327327Clavesin-2PRO_0000297651Add
    BLAST

    Proteomic databases

    PaxDbiQ5SYC1.
    PRIDEiQ5SYC1.

    PTM databases

    PhosphoSiteiQ5SYC1.

    Expressioni

    Gene expression databases

    BgeeiQ5SYC1.
    CleanExiHS_RLBP1L2.
    GenevestigatoriQ5SYC1.

    Organism-specific databases

    HPAiHPA043764.

    Interactioni

    Subunit structurei

    Forms a complex with clathrin heavy chain and gamma-adaptin.1 Publication

    Structurei

    3D structure databases

    ProteinModelPortaliQ5SYC1.
    SMRiQ5SYC1. Positions 11-266.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini96 – 257162CRAL-TRIOPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.1 Publication

    Sequence similaritiesi

    Contains 1 CRAL-TRIO domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG295803.
    HOGENOMiHOG000059544.
    HOVERGENiHBG101105.
    InParanoidiQ5SYC1.
    OMAiKRIFMHG.
    OrthoDBiEOG7H4DTZ.
    PhylomeDBiQ5SYC1.

    Family and domain databases

    Gene3Di3.40.525.10. 1 hit.
    InterProiIPR028636. Clavesin-2.
    IPR001071. CRAL-bd_toc_tran.
    IPR001251. CRAL-TRIO_dom.
    IPR011074. CRAL/TRIO_N_dom.
    [Graphical view]
    PANTHERiPTHR10174:SF73. PTHR10174:SF73. 1 hit.
    PfamiPF00650. CRAL_TRIO. 1 hit.
    PF03765. CRAL_TRIO_N. 1 hit.
    [Graphical view]
    PRINTSiPR00180. CRETINALDHBP.
    SMARTiSM01100. CRAL_TRIO_N. 1 hit.
    SM00516. SEC14. 1 hit.
    [Graphical view]
    SUPFAMiSSF46938. SSF46938. 1 hit.
    SSF52087. SSF52087. 1 hit.
    PROSITEiPS50191. CRAL_TRIO. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5SYC1-1) [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

    MTHLQAGLSP ETLEKARLEL NENPDTLHQD IQEVRDMVIT RPDIGFLRTD    50
    DAFILRFLRA RKFHHFEAFR LLAQYFEYRQ QNLDMFKSFK ATDPGIKQAL 100
    KDGFPGGLAN LDHYGRKILV LFAANWDQSR YTLVDILRAI LLSLEAMIED 150
    PELQVNGFVL IIDWSNFTFK QASKLTPSML RLAIEGLQDS FPARFGGIHF 200
    VNQPWYIHAL YTVIRPFLKE KTRKRIFLHG NNLNSLHQLI HPEILPSEFG 250
    GMLPPYDMGT WARTLLDHEY DDDSEYNVDS YSMPVKEVEK ELSPKSMKRS 300
    QSVVDPTVLK RMDKNEEENM QPLLSLD 327
    Length:327
    Mass (Da):38,000
    Last modified:December 21, 2004 - v1
    Checksum:iFF40A5A222A4DB1C
    GO
    Isoform 2 (identifier: Q5SYC1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-146: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:181
    Mass (Da):21,025
    Checksum:i6C482FB6B59FB9C8
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 146146Missing in isoform 2. 1 PublicationVSP_027325Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095527 mRNA. Translation: BAG53077.1.
    AK295158 mRNA. Translation: BAG58172.1.
    AL591428 Genomic DNA. Translation: CAI12306.1.
    AL591428 Genomic DNA. Translation: CAI12307.1.
    CH471051 Genomic DNA. Translation: EAW48161.1.
    BC101376 mRNA. Translation: AAI01377.1.
    BC101377 mRNA. Translation: AAI01378.1.
    DC324799 mRNA. No translation available.
    BK006900 mRNA. Translation: DAA06537.1.
    CCDSiCCDS34525.1. [Q5SYC1-1]
    RefSeqiNP_001010852.2. NM_001010852.3. [Q5SYC1-1]
    UniGeneiHs.486361.
    Hs.486362.

    Genome annotation databases

    EnsembliENST00000275162; ENSP00000275162; ENSG00000146352. [Q5SYC1-1]
    ENST00000368438; ENSP00000357423; ENSG00000146352. [Q5SYC1-2]
    GeneIDi134829.
    KEGGihsa:134829.
    UCSCiuc003pzi.1. human. [Q5SYC1-1]

    Polymorphism databases

    DMDMi74744054.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095527 mRNA. Translation: BAG53077.1 .
    AK295158 mRNA. Translation: BAG58172.1 .
    AL591428 Genomic DNA. Translation: CAI12306.1 .
    AL591428 Genomic DNA. Translation: CAI12307.1 .
    CH471051 Genomic DNA. Translation: EAW48161.1 .
    BC101376 mRNA. Translation: AAI01377.1 .
    BC101377 mRNA. Translation: AAI01378.1 .
    DC324799 mRNA. No translation available.
    BK006900 mRNA. Translation: DAA06537.1 .
    CCDSi CCDS34525.1. [Q5SYC1-1 ]
    RefSeqi NP_001010852.2. NM_001010852.3. [Q5SYC1-1 ]
    UniGenei Hs.486361.
    Hs.486362.

    3D structure databases

    ProteinModelPortali Q5SYC1.
    SMRi Q5SYC1. Positions 11-266.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q5SYC1.

    Polymorphism databases

    DMDMi 74744054.

    Proteomic databases

    PaxDbi Q5SYC1.
    PRIDEi Q5SYC1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000275162 ; ENSP00000275162 ; ENSG00000146352 . [Q5SYC1-1 ]
    ENST00000368438 ; ENSP00000357423 ; ENSG00000146352 . [Q5SYC1-2 ]
    GeneIDi 134829.
    KEGGi hsa:134829.
    UCSCi uc003pzi.1. human. [Q5SYC1-1 ]

    Organism-specific databases

    CTDi 134829.
    GeneCardsi GC06P123360.
    HGNCi HGNC:23046. CLVS2.
    HPAi HPA043764.
    neXtProti NX_Q5SYC1.
    PharmGKBi PA165617885.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG295803.
    HOGENOMi HOG000059544.
    HOVERGENi HBG101105.
    InParanoidi Q5SYC1.
    OMAi KRIFMHG.
    OrthoDBi EOG7H4DTZ.
    PhylomeDBi Q5SYC1.

    Miscellaneous databases

    GenomeRNAii 134829.
    NextBioi 83427.
    PROi Q5SYC1.

    Gene expression databases

    Bgeei Q5SYC1.
    CleanExi HS_RLBP1L2.
    Genevestigatori Q5SYC1.

    Family and domain databases

    Gene3Di 3.40.525.10. 1 hit.
    InterProi IPR028636. Clavesin-2.
    IPR001071. CRAL-bd_toc_tran.
    IPR001251. CRAL-TRIO_dom.
    IPR011074. CRAL/TRIO_N_dom.
    [Graphical view ]
    PANTHERi PTHR10174:SF73. PTHR10174:SF73. 1 hit.
    Pfami PF00650. CRAL_TRIO. 1 hit.
    PF03765. CRAL_TRIO_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00180. CRETINALDHBP.
    SMARTi SM01100. CRAL_TRIO_N. 1 hit.
    SM00516. SEC14. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46938. SSF46938. 1 hit.
    SSF52087. SSF52087. 1 hit.
    PROSITEi PS50191. CRAL_TRIO. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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).
    5. "The clavesin family: neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology."
      Katoh Y., Ritter B., Gaffry T., Blondeau F., Honing S., McPherson P.S.
      J. Biol. Chem. 284:27646-27654(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN COMPLEX WITH CLATHRIN HEAVY CHAIN AND GAMMA-ADAPTIN, SUBCELLULAR LOCATION, DOMAIN.

    Entry informationi

    Entry nameiCLVS2_HUMAN
    AccessioniPrimary (citable) accession number: Q5SYC1
    Secondary accession number(s): B3KTG5
    , B4DHL0, C8UZT4, Q5SYC0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 21, 2007
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 85 of the entry and version 1 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

    Miscellaneous

    Binding to PtdIns(3,5)P2 is not required for localization.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3