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2.A.53.2.1
Sulfate/anion transporter (diastrophic dysplasia protein) (SLC26A2). It catalyzes electroneutral SO4-, OH- and Cl- exchange regulated by extracellular Cl- (Ohana et al., 2011).

Accession Number:P50443
Protein Name:DTD aka SLC26A2 aka DTDST
Length:739
Molecular Weight:81662.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:11
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Sulfate, Hydroxide, Cl-

Cross database links:

Genevestigator: P50443 P50443
eggNOG: prNOG14800 COG0659
HEGENOM: HBG446299 HOG000006546
RefSeq: NP_000103.2   
Entrez Gene ID: 1836   
Pfam: PF01740    PF00916   
OMIM: 222600  phenotype
226900  phenotype
256050  phenotype
600972  phenotype
606718  gene
KEGG: hsa:1836    hsa:1836   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0005624 C:membrane fraction
GO:0008271 F:secondary active sulfate transmembrane tran...
GO:0008272 P:sulfate transport
GO:0055085 P:transmembrane transport
GO:0008271 F:secondary active sulfate transmembrane transporter activity
GO:0015116 F:sulfate transmembrane transporter activity
GO:0001503 P:ossification

References (23)

[1] “The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.”  Haestbacka J.et.al.   7923357
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “The DNA sequence and comparative analysis of human chromosome 5.”  Schmutz J.et.al.   15372022
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[5] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[6] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[7] “A quantitative atlas of mitotic phosphorylation.”  Dephoure N.et.al.   18669648
[8] “Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.”  Superti-Furga A.et.al.   8528239
[9] “Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.”  Haestbacka J.et.al.   8571951
[10] “Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.”  Megarbane A.et.al.   10466420
[11] “Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.”  Maekitie O.et.al.   12966518
[12] “The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.”  Haestbacka J.et.al.   7923357
[13] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[14] “The DNA sequence and comparative analysis of human chromosome 5.”  Schmutz J.et.al.   15372022
[15] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[16] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[17] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.”  Olsen J.V.et.al.   17081983
[18] “A quantitative atlas of mitotic phosphorylation.”  Dephoure N.et.al.   18669648
[19] “Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.”  Superti-Furga A.et.al.   8528239
[20] “Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.”  Haestbacka J.et.al.   8571951
[21] “Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.”  Megarbane A.et.al.   10466420
[22] “Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.”  Maekitie O.et.al.   12966518
[23] “Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.”  Jackson G.C.et.al.   21922596

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MSSESKEQHN VSPRDSAEGN DSYPSGIHLE LQRESSTDFK QFETNDQCRP YHRILIERQE 
61:	KSDTNFKEFV IKKLQKNCQC SPAKAKNMIL GFLPVLQWLP KYDLKKNILG DVMSGLIVGI 
121:	LLVPQSIAYS LLAGQEPVYG LYTSFFASII YFLLGTSRHI SVGIFGVLCL MIGETVDREL 
181:	QKAGYDNAHS APSLGMVSNG STLLNHTSDR ICDKSCYAIM VGSTVTFIAG VYQVAMGFFQ 
241:	VGFVSVYLSD ALLSGFVTGA SFTILTSQAK YLLGLNLPRT NGVGSLITTW IHVFRNIHKT 
301:	NLCDLITSLL CLLVLLPTKE LNEHFKSKLK APIPIELVVV VAATLASHFG KLHENYNSSI 
361:	AGHIPTGFMP PKVPEWNLIP SVAVDAIAIS IIGFAITVSL SEMFAKKHGY TVKANQEMYA 
421:	IGFCNIIPSF FHCFTTSAAL AKTLVKESTG CHTQLSGVVT ALVLLLVLLV IAPLFYSLQK 
481:	SVLGVITIVN LRGALRKFRD LPKMWSISRM DTVIWFVTML SSALLSTEIG LLVGVCFSIF 
541:	CVILRTQKPK SSLLGLVEES EVFESVSAYK NLQIKPGIKI FRFVAPLYYI NKECFKSALY 
601:	KQTVNPILIK VAWKKAAKRK IKEKVVTLGG IQDEMSVQLS HDPLELHTIV IDCSAIQFLD 
661:	TAGIHTLKEV RRDYEAIGIQ VLLAQCNPTV RDSLTNGEYC KKEEENLLFY SVYEAMAFAE 
721:	VSKNQKGVCV PNGLSLSSD