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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: 4 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 1 Publication; Multi-pass membrane protein 1 Publication

Topology

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

GO - Cellular componenti

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

BgeeiQ96SL1.
CleanExiHS_DIRC2.
ExpressionAtlasiQ96SL1. baseline and differential.
GenevestigatoriQ96SL1.

Interactioni

Protein-protein interaction databases

BioGridi124360. 1 interaction.
STRINGi9606.ENSP00000261038.

Structurei

3D structure databases

ProteinModelPortaliQ96SL1.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00530000062892.
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

        10         20         30         40         50
MGSRWSSEEE RQPLLGPGLG PGLGASWRSR EAAAAALPAA VPGPGRVYGR
60 70 80 90 100
RWLVLLLFSL LAFVQGLVWN TWGPIQNSAR QAYGFSSWDI ALLVLWGPIG
110 120 130 140 150
FLPCFAFMWL LDKRGLRITV LLTSFLMVLG TGLRCIPISD LILKRRLIHG
160 170 180 190 200
GQMLNGLAGP TVMNAAPFLS TTWFSADERA TATAIASMLS YLGGACAFLV
210 220 230 240 250
GPLVVPAPNG TSPLLAAESS RAHIKDRIEA VLYAEFGVVC LIFSATLAYF
260 270 280 290 300
PPRPPLPPSV AAASQRLSYR RSVCRLLSNF RFLMIALAYA IPLGVFAGWS
310 320 330 340 350
GVLDLILTPA HVSQVDAGWI GFWSIVGGCV VGIAMARFAD FIRGMLKLIL
360 370 380 390 400
LLLFSGATLS STWFTLTCLN SITHLPLTTV TLYASCILLG VFLNSSVPIF
410 420 430 440 450
FELFVETVYP VPEGITCGVV TFLSNMFMGV LLFFLTFYHT ELSWFNWCLP
460 470
GSCLLSLLLI LCFRESYDRL YLDVVVSV
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00530000062892.
HOGENOMi HOG000294083.
HOVERGENi HBG060348.
InParanoidi Q96SL1.
KOi K15381.
OMAi STTWFSP.
OrthoDBi EOG79PJQ9.
PhylomeDBi Q96SL1.
TreeFami TF314292.

Miscellaneous databases

ChiTaRSi DIRC2. human.
GenomeRNAii 84925.
NextBioi 75346.
PROi Q96SL1.
SOURCEi Search...

Gene expression databases

Bgeei Q96SL1.
CleanExi HS_DIRC2.
ExpressionAtlasi Q96SL1. baseline and differential.
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: November 26, 2014
This is version 91 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