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Q96SL1

- DIRC2_HUMAN

UniProt

Q96SL1 - DIRC2_HUMAN

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Protein

Disrupted in renal carcinoma protein 2

Gene
DIRC2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Electrogenic metabolite transporter.1 Publication

GO - Biological processi

  1. transport Source: UniProtKB-KW
Complete GO annotation...

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; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5151Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei52 – 7221Helical; Reviewed predictionAdd
BLAST
Topological domaini73 – 8917Lumenal Reviewed predictionAdd
BLAST
Transmembranei90 – 11021Helical; Reviewed predictionAdd
BLAST
Topological domaini111 – 1177Cytoplasmic Reviewed prediction
Transmembranei118 – 13821Helical; Reviewed predictionAdd
BLAST
Topological domaini139 – 15517Lumenal Reviewed predictionAdd
BLAST
Transmembranei156 – 17621Helical; Reviewed predictionAdd
BLAST
Topological domaini177 – 1848Cytoplasmic Reviewed prediction
Transmembranei185 – 20521Helical; Reviewed predictionAdd
BLAST
Topological domaini206 – 22924Lumenal Reviewed predictionAdd
BLAST
Transmembranei230 – 25021Helical; Reviewed predictionAdd
BLAST
Topological domaini251 – 28131Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei282 – 30221Helical; Reviewed predictionAdd
BLAST
Topological domaini303 – 31412Lumenal Reviewed predictionAdd
BLAST
Transmembranei315 – 33521Helical; Reviewed predictionAdd
BLAST
Topological domaini336 – 34712Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei348 – 36821Helical; Reviewed predictionAdd
BLAST
Topological domaini369 – 38416Lumenal Reviewed predictionAdd
BLAST
Transmembranei385 – 40521Helical; Reviewed predictionAdd
BLAST
Topological domaini406 – 4149Cytoplasmic Reviewed prediction
Transmembranei415 – 43521Helical; Reviewed predictionAdd
BLAST
Topological domaini436 – 4427Lumenal Reviewed prediction
Transmembranei443 – 46321Helical; Reviewed predictionAdd
BLAST
Topological domaini464 – 47815Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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.

Family & Domainsi

Motif

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

Sequence similaritiesi

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. VSP_022302Add
BLAST
Alternative sequencei412 – 47867Missing in isoform 2. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 88 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

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