SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P82251

- BAT1_HUMAN

UniProt

P82251 - BAT1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
b(0,+)-type amino acid transporter 1
Gene
SLC7A9, BAT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.1 Publication

GO - Molecular functioni

  1. L-cystine transmembrane transporter activity Source: ProtInc
  2. amino acid transmembrane transporter activity Source: ProtInc
  3. neutral amino acid transmembrane transporter activity Source: UniProtKB
  4. peptide antigen binding Source: UniProtKB
  5. protein binding Source: UniProtKB

GO - Biological processi

  1. L-cystine transport Source: GOC
  2. amino acid transport Source: Reactome
  3. blood coagulation Source: Reactome
  4. cellular amino acid metabolic process Source: ProtInc
  5. ion transport Source: Reactome
  6. leukocyte migration Source: Reactome
  7. neutral amino acid transport Source: UniProtKB
  8. protein complex assembly Source: ProtInc
  9. transmembrane transport Source: Reactome
  10. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Transport

Enzyme and pathway databases

ReactomeiREACT_12560. Basigin interactions.
REACT_13796. Amino acid transport across the plasma membrane.

Protein family/group databases

TCDBi2.A.3.8.19. the amino acid-polyamine-organocation (apc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
b(0,+)-type amino acid transporter 1
Short name:
b(0,+)AT1
Alternative name(s):
Glycoprotein-associated amino acid transporter b0,+AT1
Solute carrier family 7 member 9
Gene namesi
Name:SLC7A9
Synonyms:BAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:11067. SLC7A9.

Subcellular locationi

Cell membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2929Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei30 – 5021Helical; Reviewed prediction
Add
BLAST
Topological domaini51 – 6010Extracellular Reviewed prediction
Transmembranei61 – 8121Helical; Reviewed prediction
Add
BLAST
Topological domaini82 – 9918Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei100 – 12021Helical; Reviewed prediction
Add
BLAST
Topological domaini121 – 14828Extracellular Reviewed prediction
Add
BLAST
Transmembranei149 – 16921Helical; Reviewed prediction
Add
BLAST
Topological domaini170 – 1789Cytoplasmic Reviewed prediction
Transmembranei179 – 19921Helical; Reviewed prediction
Add
BLAST
Topological domaini200 – 21011Extracellular Reviewed prediction
Add
BLAST
Transmembranei211 – 23121Helical; Reviewed prediction
Add
BLAST
Topological domaini232 – 25120Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei252 – 27221Helical; Reviewed prediction
Add
BLAST
Topological domaini273 – 29624Extracellular Reviewed prediction
Add
BLAST
Transmembranei297 – 31721Helical; Reviewed prediction
Add
BLAST
Topological domaini318 – 34831Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei349 – 36921Helical; Reviewed prediction
Add
BLAST
Topological domaini370 – 3745Extracellular Reviewed prediction
Transmembranei375 – 39521Helical; Reviewed prediction
Add
BLAST
Topological domaini396 – 40914Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei410 – 43021Helical; Reviewed prediction
Add
BLAST
Topological domaini431 – 4344Extracellular Reviewed prediction
Transmembranei435 – 45521Helical; Reviewed prediction
Add
BLAST
Topological domaini456 – 48732Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. brush border membrane Source: UniProtKB
  2. integral component of plasma membrane Source: ProtInc
  3. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101Missing in CSNU. 1 Publication
VAR_018997
Natural varianti44 – 441I → T in CSNU; type I. 1 Publication
VAR_014363
Natural varianti52 – 521P → L in CSNU. 1 Publication
VAR_018998
Natural varianti63 – 631G → R in CSNU. 1 Publication
VAR_018999
Natural varianti69 – 691W → L in CSNU. 1 Publication
VAR_019000
Natural varianti70 – 701A → V in CSNU; mild loss of amino acid transport activity. 1 Publication
VAR_019001
Natural varianti105 – 1051G → R in CSNU; type III; frequent mutation; severe loss of amino acid transport activity. 3 Publications
Corresponds to variant rs121908480 [ dbSNP | Ensembl ].
VAR_010256
Natural varianti123 – 1231T → M in CSNU. 1 Publication
Corresponds to variant rs79987078 [ dbSNP | Ensembl ].
VAR_019002
Natural varianti126 – 1261A → T in CSNU. 1 Publication
VAR_019003
Natural varianti158 – 1581A → AA in CSNU. 1 Publication
VAR_019004
Natural varianti170 – 1701V → M in CSNU; type III; frequent mutation; complete loss of amino acid transport activity. 2 Publications
VAR_010257
Natural varianti182 – 1821A → T in CSNU; type III; frequent mutation; mild loss of amino acid transport activity. 3 Publications
Corresponds to variant rs79389353 [ dbSNP | Ensembl ].
VAR_010258
Natural varianti187 – 1871I → F in CSNU. 1 Publication
VAR_019005
Natural varianti193 – 1931I → II in CSNU. 1 Publication
VAR_019006
Natural varianti195 – 1951G → R in CSNU; type III. 2 Publications
VAR_010259
Natural varianti224 – 2241A → V in CSNU; non-classic type I. 1 Publication
VAR_022603
Natural varianti230 – 2301W → R in CSNU. 1 Publication
VAR_019008
Natural varianti241 – 2411I → T in CSNU. 1 Publication
VAR_019009
Natural varianti244 – 2441Missing in CSNU. 1 Publication
VAR_019010
Natural varianti259 – 2591G → R in CSNU; type III. 2 Publications
VAR_010260
Natural varianti261 – 2611P → L in CSNU; types I and III. 2 Publications
VAR_014364
Natural varianti330 – 3301V → M in CSNU; type III. 1 Publication
VAR_015885
Natural varianti331 – 3311A → V in CSNU; non-classic type I. 1 Publication
VAR_022604
Natural varianti333 – 3331R → W in CSNU; frequent mutation; severe loss of amino acid transport activity. 1 Publication
VAR_019011
Natural varianti354 – 3541A → T in CSNU; type III; severe loss of amino acid transport activity. 2 Publications
VAR_014365
Natural varianti379 – 3791S → R in CSNU. 1 Publication
VAR_019012
Natural varianti382 – 3821A → T in CSNU. 1 Publication
VAR_019013

Keywords - Diseasei

Cystinuria, Disease mutation

Organism-specific databases

MIMi220100. phenotype.
Orphaneti93613. Cystinuria type B.
PharmGKBiPA35927.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 487487b(0,+)-type amino acid transporter 1
PRO_0000054258Add
BLAST

Keywords - PTMi

Disulfide bond

Proteomic databases

PRIDEiP82251.

PTM databases

PhosphoSiteiP82251.

Expressioni

Tissue specificityi

Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.2 Publications

Gene expression databases

ArrayExpressiP82251.
BgeeiP82251.
CleanExiHS_BAT1.
HS_SLC7A9.
GenevestigatoriP82251.

Organism-specific databases

HPAiHPA042591.

Interactioni

Subunit structurei

Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Interacts with CAV1 By similarity.1 Publication

Protein-protein interaction databases

BioGridi116309. 2 interactions.
IntActiP82251. 2 interactions.
MINTiMINT-3023541.
STRINGi9606.ENSP00000023064.

Structurei

3D structure databases

ProteinModelPortaliP82251.
SMRiP82251. Positions 30-365.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0531.
HOGENOMiHOG000098892.
HOVERGENiHBG000476.
InParanoidiP82251.
KOiK13868.
OMAiSFSEYVC.
OrthoDBiEOG73BVCR.
PhylomeDBiP82251.

Family and domain databases

InterProiIPR002293. AA/rel_permease1.
[Graphical view]
PANTHERiPTHR11785. PTHR11785. 1 hit.
PfamiPF13520. AA_permease_2. 1 hit.
[Graphical view]
PIRSFiPIRSF006060. AA_transporter. 1 hit.

Sequencei

Sequence statusi: Complete.

P82251-1 [UniParc]FASTAAdd to Basket

« Hide

MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV    50
SPKSVLSNTE AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL 100
MEAYGPIPAY LFSWASLIVI KPTSFAIICL SFSEYVCAPF YVGCKPPQIV 150
VKCLAAAAIL FISTVNSLSV RLGSYVQNIF TAAKLVIVAI IIISGLVLLA 200
QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY ITEELRNPYR 250
NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP 300
ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT 350
PAPAIIFYGI IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR 400
KELERPIKVP VVIPVLMTLI SVFLVLAPII SKPTWEYLYC VLFILSGLLF 450
YFLFVHYKFG WAQKISKPIT MHLQMLMEVV PPEEDPE 487
Length:487
Mass (Da):53,481
Last modified:May 1, 2000 - v1
Checksum:iEF2C30DDE15594F1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti10 – 101Missing in CSNU. 1 Publication
VAR_018997
Natural varianti44 – 441I → T in CSNU; type I. 1 Publication
VAR_014363
Natural varianti52 – 521P → L in CSNU. 1 Publication
VAR_018998
Natural varianti63 – 631G → R in CSNU. 1 Publication
VAR_018999
Natural varianti69 – 691W → L in CSNU. 1 Publication
VAR_019000
Natural varianti70 – 701A → V in CSNU; mild loss of amino acid transport activity. 1 Publication
VAR_019001
Natural varianti105 – 1051G → R in CSNU; type III; frequent mutation; severe loss of amino acid transport activity. 3 Publications
Corresponds to variant rs121908480 [ dbSNP | Ensembl ].
VAR_010256
Natural varianti123 – 1231T → M in CSNU. 1 Publication
Corresponds to variant rs79987078 [ dbSNP | Ensembl ].
VAR_019002
Natural varianti126 – 1261A → T in CSNU. 1 Publication
VAR_019003
Natural varianti142 – 1421V → A.
Corresponds to variant rs12150889 [ dbSNP | Ensembl ].
VAR_048153
Natural varianti158 – 1581A → AA in CSNU. 1 Publication
VAR_019004
Natural varianti170 – 1701V → M in CSNU; type III; frequent mutation; complete loss of amino acid transport activity. 2 Publications
VAR_010257
Natural varianti182 – 1821A → T in CSNU; type III; frequent mutation; mild loss of amino acid transport activity. 3 Publications
Corresponds to variant rs79389353 [ dbSNP | Ensembl ].
VAR_010258
Natural varianti187 – 1871I → F in CSNU. 1 Publication
VAR_019005
Natural varianti193 – 1931I → II in CSNU. 1 Publication
VAR_019006
Natural varianti195 – 1951G → R in CSNU; type III. 2 Publications
VAR_010259
Natural varianti223 – 2231L → M.1 Publication
Corresponds to variant rs1007160 [ dbSNP | Ensembl ].
VAR_019007
Natural varianti224 – 2241A → V in CSNU; non-classic type I. 1 Publication
VAR_022603
Natural varianti230 – 2301W → R in CSNU. 1 Publication
VAR_019008
Natural varianti241 – 2411I → T in CSNU. 1 Publication
VAR_019009
Natural varianti244 – 2441Missing in CSNU. 1 Publication
VAR_019010
Natural varianti259 – 2591G → R in CSNU; type III. 2 Publications
VAR_010260
Natural varianti261 – 2611P → L in CSNU; types I and III. 2 Publications
VAR_014364
Natural varianti330 – 3301V → M in CSNU; type III. 1 Publication
VAR_015885
Natural varianti331 – 3311A → V in CSNU; non-classic type I. 1 Publication
VAR_022604
Natural varianti333 – 3331R → W in CSNU; frequent mutation; severe loss of amino acid transport activity. 1 Publication
VAR_019011
Natural varianti354 – 3541A → T in CSNU; type III; severe loss of amino acid transport activity. 2 Publications
VAR_014365
Natural varianti379 – 3791S → R in CSNU. 1 Publication
VAR_019012
Natural varianti382 – 3821A → T in CSNU. 1 Publication
VAR_019013

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti52 – 521P → S in CAB54003. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF141289 mRNA. Translation: AAD55898.1.
AJ249199 mRNA. Translation: CAB54003.1.
AB033548 mRNA. Translation: BAB16840.1.
AF421181
, AF421170, AF421171, AF421172, AF421173, AF421174, AF421175, AF421176, AF421177, AF421178, AF421179, AF421180 Genomic DNA. Translation: AAN40878.1.
AK313708 mRNA. Translation: BAG36453.1.
BC017962 mRNA. Translation: AAH17962.1.
CCDSiCCDS12425.1.
RefSeqiNP_001119807.1. NM_001126335.1.
NP_001229965.1. NM_001243036.1.
NP_055085.1. NM_014270.4.
UniGeneiHs.743345.

Genome annotation databases

EnsembliENST00000023064; ENSP00000023064; ENSG00000021488.
ENST00000587772; ENSP00000468439; ENSG00000021488.
ENST00000590341; ENSP00000464822; ENSG00000021488.
GeneIDi11136.
KEGGihsa:11136.
UCSCiuc002ntu.4. human.

Polymorphism databases

DMDMi12585187.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF141289 mRNA. Translation: AAD55898.1 .
AJ249199 mRNA. Translation: CAB54003.1 .
AB033548 mRNA. Translation: BAB16840.1 .
AF421181
, AF421170 , AF421171 , AF421172 , AF421173 , AF421174 , AF421175 , AF421176 , AF421177 , AF421178 , AF421179 , AF421180 Genomic DNA. Translation: AAN40878.1 .
AK313708 mRNA. Translation: BAG36453.1 .
BC017962 mRNA. Translation: AAH17962.1 .
CCDSi CCDS12425.1.
RefSeqi NP_001119807.1. NM_001126335.1.
NP_001229965.1. NM_001243036.1.
NP_055085.1. NM_014270.4.
UniGenei Hs.743345.

3D structure databases

ProteinModelPortali P82251.
SMRi P82251. Positions 30-365.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116309. 2 interactions.
IntActi P82251. 2 interactions.
MINTi MINT-3023541.
STRINGi 9606.ENSP00000023064.

Chemistry

DrugBanki DB00138. L-Cystine.

Protein family/group databases

TCDBi 2.A.3.8.19. the amino acid-polyamine-organocation (apc) family.

PTM databases

PhosphoSitei P82251.

Polymorphism databases

DMDMi 12585187.

Proteomic databases

PRIDEi P82251.

Protocols and materials databases

DNASUi 11136.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000023064 ; ENSP00000023064 ; ENSG00000021488 .
ENST00000587772 ; ENSP00000468439 ; ENSG00000021488 .
ENST00000590341 ; ENSP00000464822 ; ENSG00000021488 .
GeneIDi 11136.
KEGGi hsa:11136.
UCSCi uc002ntu.4. human.

Organism-specific databases

CTDi 11136.
GeneCardsi GC19M033321.
HGNCi HGNC:11067. SLC7A9.
HPAi HPA042591.
MIMi 220100. phenotype.
604144. gene.
neXtProti NX_P82251.
Orphaneti 93613. Cystinuria type B.
PharmGKBi PA35927.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0531.
HOGENOMi HOG000098892.
HOVERGENi HBG000476.
InParanoidi P82251.
KOi K13868.
OMAi SFSEYVC.
OrthoDBi EOG73BVCR.
PhylomeDBi P82251.

Enzyme and pathway databases

Reactomei REACT_12560. Basigin interactions.
REACT_13796. Amino acid transport across the plasma membrane.

Miscellaneous databases

GenomeRNAii 11136.
NextBioi 42332.
PROi P82251.
SOURCEi Search...

Gene expression databases

ArrayExpressi P82251.
Bgeei P82251.
CleanExi HS_BAT1.
HS_SLC7A9.
Genevestigatori P82251.

Family and domain databases

InterProi IPR002293. AA/rel_permease1.
[Graphical view ]
PANTHERi PTHR11785. PTHR11785. 1 hit.
Pfami PF13520. AA_permease_2. 1 hit.
[Graphical view ]
PIRSFi PIRSF006060. AA_transporter. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CSNU ARG-105; MET-170; THR-182; ARG-195 AND ARG-259, CHARACTERIZATION OF VARIANT CSNU MET-170, FUNCTION, TISSUE SPECIFICITY.
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Kidney.
  3. "Human cystinuria-related transporter: localization and functional characterization."
    Mizoguchi K., Cha S.H., Chairoungdua A., Kim J.Y., Shigeta Y., Matsuo H., Fukushima J., Awa Y., Akakura K., Goya T., Ito H., Endou H., Kanai Y.
    Kidney Int. 59:1821-1833(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Kidney.
  4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CSNU THR-44; LEU-261 AND THR-354, VARIANT MET-223.
  5. "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].
    Tissue: Kidney.
  6. "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].
    Tissue: Kidney.
  7. "rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney."
    Fernandez E., Carrascal M., Rousaud F., Abian J., Zorzano A., Palacin M., Chillaron J.
    Am. J. Physiol. 283:F540-F548(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. Cited for: VARIANTS CSNU ARG-10 DEL; LEU-52; ARG-63; LEU-69; VAL-70; ARG-105; MET-123; THR-126; ALA-158 INS; MET-170; THR-182; PHE-187; ILE-193 INS; ARG-195; ARG-230; THR-241; GLU-244 DEL; ARG-259; TRP-333; THR-354; ARG-379 AND THR-382, CHARACTERIZATION OF VARIANTS CSNU VAL-70; ARG-105; MET-170; THR-182; TRP-333 AND THR-354.
  9. "Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes."
    Botzenhart E., Vester U., Schmidt C., Hesse A., Halber M., Wagner C., Lang F., Hoyer P., Zerres K., Eggermann T.
    Kidney Int. 62:1136-1142(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CSNU ARG-105; VAL-224 AND VAL-331.
  10. "Mutation analysis of SLC7A9 in cystinuria patients in Sweden."
    Harnevik L., Fjellstedt E., Molbaek A., Denneberg T., Soderkvist P.
    Genet. Test. 7:13-20(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CSNU THR-182; LEU-261 AND MET-330.

Entry informationi

Entry nameiBAT1_HUMAN
AccessioniPrimary (citable) accession number: P82251
Secondary accession number(s): B2R9A6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 142 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 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi