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Q96SL1

- DIRC2_HUMAN

UniProt

Q96SL1 - DIRC2_HUMAN

Protein

Disrupted in renal carcinoma protein 2

Gene

DIRC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Electrogenic metabolite transporter.1 Publication

    GO - Biological processi

    1. transport Source: UniProtKB-KW

    Keywords - Biological processi

    Transport

    Protein family/group databases

    TCDBi2.A.1.28.6. the major facilitator superfamily (mfs).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Disrupted in renal carcinoma protein 2
    Alternative name(s):
    Disrupted in renal cancer protein 2
    Gene namesi
    Name:DIRC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:16628. DIRC2.

    Subcellular locationi

    Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. lysosomal membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving DIRC2 has been found in a family with renal carcinoma. Translocation t(2;3)(q35;q21).

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi14 – 152LL → AA: Abolishes lysosomal localization. 1 Publication

    Organism-specific databases

    Orphaneti151. Familial renal cell carcinoma.
    PharmGKBiPA27341.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 478478Disrupted in renal carcinoma protein 2PRO_0000271338Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi209 – 2091N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and a non-glycosylated C-terminal fragment.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ96SL1.
    PaxDbiQ96SL1.
    PRIDEiQ96SL1.

    PTM databases

    PhosphoSiteiQ96SL1.

    Expressioni

    Tissue specificityi

    Ubiquitous. Expressed in proximal tubular cells of the kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ96SL1.
    BgeeiQ96SL1.
    CleanExiHS_DIRC2.
    GenevestigatoriQ96SL1.

    Interactioni

    Protein-protein interaction databases

    BioGridi124360. 1 interaction.
    STRINGi9606.ENSP00000261038.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96SL1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5151CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini73 – 8917LumenalSequence AnalysisAdd
    BLAST
    Topological domaini111 – 1177CytoplasmicSequence Analysis
    Topological domaini139 – 15517LumenalSequence AnalysisAdd
    BLAST
    Topological domaini177 – 1848CytoplasmicSequence Analysis
    Topological domaini206 – 22924LumenalSequence AnalysisAdd
    BLAST
    Topological domaini251 – 28131CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini303 – 31412LumenalSequence AnalysisAdd
    BLAST
    Topological domaini336 – 34712CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini369 – 38416LumenalSequence AnalysisAdd
    BLAST
    Topological domaini406 – 4149CytoplasmicSequence Analysis
    Topological domaini436 – 4427LumenalSequence Analysis
    Topological domaini464 – 47815CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei52 – 7221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei90 – 11021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei118 – 13821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei156 – 17621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei185 – 20521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei230 – 25021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei315 – 33521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei348 – 36821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei385 – 40521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei415 – 43521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei443 – 46321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi14 – 152Mediates lysosomal localization

    Sequence similaritiesi

    Belongs to the major facilitator superfamily.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG298320.
    HOGENOMiHOG000294083.
    HOVERGENiHBG060348.
    InParanoidiQ96SL1.
    KOiK15381.
    OMAiSTTWFSP.
    OrthoDBiEOG79PJQ9.
    PhylomeDBiQ96SL1.
    TreeFamiTF314292.

    Family and domain databases

    InterProiIPR016196. MFS_dom_general_subst_transpt.
    [Graphical view]
    SUPFAMiSSF103473. SSF103473. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96SL1-1) [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

    MGSRWSSEEE RQPLLGPGLG PGLGASWRSR EAAAAALPAA VPGPGRVYGR    50
    RWLVLLLFSL LAFVQGLVWN TWGPIQNSAR QAYGFSSWDI ALLVLWGPIG 100
    FLPCFAFMWL LDKRGLRITV LLTSFLMVLG TGLRCIPISD LILKRRLIHG 150
    GQMLNGLAGP TVMNAAPFLS TTWFSADERA TATAIASMLS YLGGACAFLV 200
    GPLVVPAPNG TSPLLAAESS RAHIKDRIEA VLYAEFGVVC LIFSATLAYF 250
    PPRPPLPPSV AAASQRLSYR RSVCRLLSNF RFLMIALAYA IPLGVFAGWS 300
    GVLDLILTPA HVSQVDAGWI GFWSIVGGCV VGIAMARFAD FIRGMLKLIL 350
    LLLFSGATLS STWFTLTCLN SITHLPLTTV TLYASCILLG VFLNSSVPIF 400
    FELFVETVYP VPEGITCGVV TFLSNMFMGV LLFFLTFYHT ELSWFNWCLP 450
    GSCLLSLLLI LCFRESYDRL YLDVVVSV 478
    Length:478
    Mass (Da):52,088
    Last modified:December 1, 2001 - v1
    Checksum:iB752B98647711B89
    GO
    Isoform 2 (identifier: Q96SL1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         380-411: VTLYASCILLGVFLNSSVPIFFELFVETVYPV → EMGFRHVVQAGLELLSLSDSPTLASQNVGIAD
         412-478: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:411
    Mass (Da):44,146
    Checksum:i79709AEBBBA7E31A
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei380 – 41132VTLYA…TVYPV → EMGFRHVVQAGLELLSLSDS PTLASQNVGIAD in isoform 2. 1 PublicationVSP_022302Add
    BLAST
    Alternative sequencei412 – 47867Missing in isoform 2. 1 PublicationVSP_022303Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027690 mRNA. Translation: BAB55300.1.
    AK075158 mRNA. Translation: BAC11440.1.
    AK291176 mRNA. Translation: BAF83865.1.
    CH471052 Genomic DNA. Translation: EAW79462.1.
    BC039821 mRNA. Translation: AAH39821.1.
    CCDSiCCDS3018.1. [Q96SL1-1]
    RefSeqiNP_116228.1. NM_032839.2. [Q96SL1-1]
    UniGeneiHs.477346.

    Genome annotation databases

    EnsembliENST00000261038; ENSP00000261038; ENSG00000138463. [Q96SL1-1]
    GeneIDi84925.
    KEGGihsa:84925.
    UCSCiuc003efw.4. human. [Q96SL1-1]

    Polymorphism databases

    DMDMi74732717.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK027690 mRNA. Translation: BAB55300.1 .
    AK075158 mRNA. Translation: BAC11440.1 .
    AK291176 mRNA. Translation: BAF83865.1 .
    CH471052 Genomic DNA. Translation: EAW79462.1 .
    BC039821 mRNA. Translation: AAH39821.1 .
    CCDSi CCDS3018.1. [Q96SL1-1 ]
    RefSeqi NP_116228.1. NM_032839.2. [Q96SL1-1 ]
    UniGenei Hs.477346.

    3D structure databases

    ProteinModelPortali Q96SL1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124360. 1 interaction.
    STRINGi 9606.ENSP00000261038.

    Protein family/group databases

    TCDBi 2.A.1.28.6. the major facilitator superfamily (mfs).

    PTM databases

    PhosphoSitei Q96SL1.

    Polymorphism databases

    DMDMi 74732717.

    Proteomic databases

    MaxQBi Q96SL1.
    PaxDbi Q96SL1.
    PRIDEi Q96SL1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261038 ; ENSP00000261038 ; ENSG00000138463 . [Q96SL1-1 ]
    GeneIDi 84925.
    KEGGi hsa:84925.
    UCSCi uc003efw.4. human. [Q96SL1-1 ]

    Organism-specific databases

    CTDi 84925.
    GeneCardsi GC03P122513.
    H-InvDB HIX0030821.
    HGNCi HGNC:16628. DIRC2.
    MIMi 602773. gene.
    neXtProti NX_Q96SL1.
    Orphaneti 151. Familial renal cell carcinoma.
    PharmGKBi PA27341.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG298320.
    HOGENOMi HOG000294083.
    HOVERGENi HBG060348.
    InParanoidi Q96SL1.
    KOi K15381.
    OMAi STTWFSP.
    OrthoDBi EOG79PJQ9.
    PhylomeDBi Q96SL1.
    TreeFami TF314292.

    Miscellaneous databases

    GenomeRNAii 84925.
    NextBioi 75346.
    PROi Q96SL1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96SL1.
    Bgeei Q96SL1.
    CleanExi HS_DIRC2.
    Genevestigatori Q96SL1.

    Family and domain databases

    InterProi IPR016196. MFS_dom_general_subst_transpt.
    [Graphical view ]
    SUPFAMi SSF103473. SSF103473. 1 hit.
    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: Placenta.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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: Skin.
    4. "Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21)."
      Bodmer D., Eleveld M., Kater-Baats E., Janssen I., Janssen B., Weterman M., Schoenmakers E., Nickerson M., Linehan M., Zbar B., van Kessel A.G.
      Hum. Mol. Genet. 11:641-649(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION, TISSUE SPECIFICITY.
    5. "Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the lysosomal membrane, is proteolytically processed by cathepsin L."
      Savalas L.R., Gasnier B., Damme M., Lubke T., Wrocklage C., Debacker C., Jezegou A., Reinheckel T., Hasilik A., Saftig P., Schroder B.
      Biochem. J. 439:113-128(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, GLYCOSYLATION AT ASN-209, PROTEOLYTIC PROCESSING, MUTAGENESIS OF 14-LEU-LEU-15, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiDIRC2_HUMAN
    AccessioniPrimary (citable) accession number: Q96SL1
    Secondary accession number(s): A8K561, Q8NBX9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 89 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3