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Q96SL1 (DIRC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Disrupted in renal carcinoma protein 2
Alternative name(s):
Disrupted in renal cancer protein 2
Gene names
Name:DIRC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length478 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Electrogenic metabolite transporter. Ref.5

Subcellular location

Lysosome membrane; Multi-pass membrane protein Ref.5.

Tissue specificity

Ubiquitous. Expressed in proximal tubular cells of the kidney. Ref.4

Post-translational modification

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. Ref.5

Involvement in disease

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

Sequence similarities

Belongs to the major facilitator superfamily.

Ontologies

Keywords
   Biological processTransport
   Cellular componentLysosome
Membrane
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processtransport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

lysosomal membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96SL1-1)

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.
Isoform 2 (identifier: Q96SL1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     380-411: VTLYASCILLGVFLNSSVPIFFELFVETVYPV → EMGFRHVVQAGLELLSLSDSPTLASQNVGIAD
     412-478: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 478478Disrupted in renal carcinoma protein 2
PRO_0000271338

Regions

Topological domain1 – 5151Cytoplasmic Potential
Transmembrane52 – 7221Helical; Potential
Topological domain73 – 8917Lumenal Potential
Transmembrane90 – 11021Helical; Potential
Topological domain111 – 1177Cytoplasmic Potential
Transmembrane118 – 13821Helical; Potential
Topological domain139 – 15517Lumenal Potential
Transmembrane156 – 17621Helical; Potential
Topological domain177 – 1848Cytoplasmic Potential
Transmembrane185 – 20521Helical; Potential
Topological domain206 – 22924Lumenal Potential
Transmembrane230 – 25021Helical; Potential
Topological domain251 – 28131Cytoplasmic Potential
Transmembrane282 – 30221Helical; Potential
Topological domain303 – 31412Lumenal Potential
Transmembrane315 – 33521Helical; Potential
Topological domain336 – 34712Cytoplasmic Potential
Transmembrane348 – 36821Helical; Potential
Topological domain369 – 38416Lumenal Potential
Transmembrane385 – 40521Helical; Potential
Topological domain406 – 4149Cytoplasmic Potential
Transmembrane415 – 43521Helical; Potential
Topological domain436 – 4427Lumenal Potential
Transmembrane443 – 46321Helical; Potential
Topological domain464 – 47815Cytoplasmic Potential
Motif14 – 152Mediates lysosomal localization

Amino acid modifications

Glycosylation2091N-linked (GlcNAc...) Ref.5

Natural variations

Alternative sequence380 – 41132VTLYA…TVYPV → EMGFRHVVQAGLELLSLSDS PTLASQNVGIAD in isoform 2.
VSP_022302
Alternative sequence412 – 47867Missing in isoform 2.
VSP_022303

Experimental info

Mutagenesis14 – 152LL → AA: Abolishes lysosomal localization. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: B752B98647711B89

FASTA47852,088
        10         20         30         40         50         60 
MGSRWSSEEE RQPLLGPGLG PGLGASWRSR EAAAAALPAA VPGPGRVYGR RWLVLLLFSL 

        70         80         90        100        110        120 
LAFVQGLVWN TWGPIQNSAR QAYGFSSWDI ALLVLWGPIG FLPCFAFMWL LDKRGLRITV 

       130        140        150        160        170        180 
LLTSFLMVLG TGLRCIPISD LILKRRLIHG GQMLNGLAGP TVMNAAPFLS TTWFSADERA 

       190        200        210        220        230        240 
TATAIASMLS YLGGACAFLV GPLVVPAPNG TSPLLAAESS RAHIKDRIEA VLYAEFGVVC 

       250        260        270        280        290        300 
LIFSATLAYF PPRPPLPPSV AAASQRLSYR RSVCRLLSNF RFLMIALAYA IPLGVFAGWS 

       310        320        330        340        350        360 
GVLDLILTPA HVSQVDAGWI GFWSIVGGCV VGIAMARFAD FIRGMLKLIL LLLFSGATLS 

       370        380        390        400        410        420 
STWFTLTCLN SITHLPLTTV TLYASCILLG VFLNSSVPIF FELFVETVYP VPEGITCGVV 

       430        440        450        460        470 
TFLSNMFMGV LLFFLTFYHT ELSWFNWCLP GSCLLSLLLI LCFRESYDRL YLDVVVSV 

« Hide

Isoform 2 [UniParc].

Checksum: 79709AEBBBA7E31A
Show »

FASTA41144,146

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_116228.1. NM_032839.2.
UniGeneHs.477346.

3D structure databases

ProteinModelPortalQ96SL1.
SMRQ96SL1. Positions 168-200.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124360. 1 interaction.
STRING9606.ENSP00000261038.

Protein family/group databases

TCDB2.A.1.28.6. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteQ96SL1.

Polymorphism databases

DMDM74732717.

Proteomic databases

PaxDbQ96SL1.
PRIDEQ96SL1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261038; ENSP00000261038; ENSG00000138463. [Q96SL1-1]
GeneID84925.
KEGGhsa:84925.
UCSCuc003efw.4. human. [Q96SL1-1]

Organism-specific databases

CTD84925.
GeneCardsGC03P122513.
H-InvDBHIX0030821.
HGNCHGNC:16628. DIRC2.
MIM602773. gene.
neXtProtNX_Q96SL1.
Orphanet151. Familial renal cell carcinoma.
PharmGKBPA27341.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG298320.
HOGENOMHOG000294083.
HOVERGENHBG060348.
InParanoidQ96SL1.
KOK15381.
OMAVLYAEFG.
OrthoDBEOG79PJQ9.
PhylomeDBQ96SL1.
TreeFamTF314292.

Gene expression databases

ArrayExpressQ96SL1.
BgeeQ96SL1.
CleanExHS_DIRC2.
GenevestigatorQ96SL1.

Family and domain databases

InterProIPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
SUPFAMSSF103473. SSF103473. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi84925.
NextBio75346.
PROQ96SL1.
SOURCESearch...

Entry information

Entry nameDIRC2_HUMAN
AccessionPrimary (citable) accession number: Q96SL1
Secondary accession number(s): A8K561, Q8NBX9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM