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Q9NS82 (AAA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Asc-type amino acid transporter 1

Short name=Asc-1
Alternative name(s):
Solute carrier family 7 member 10
Gene names
Name:SLC7A10
Synonyms:ASC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length523 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Sodium-independent, high affinity transport of small neutral D- and L-amino acids. May play a role in the modulation of glutamatergic transmission through mobilization of D-serine at the glutamatergic synapse. Ref.1

Subunit structure

Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc By similarity. UniProtKB Q9JMH8

Subcellular location

Membrane; Multi-pass membrane protein Probable.

Tissue specificity

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, and skeletal muscle. Ref.1

Sequence similarities

Belongs to the amino acid-polyamine-organocation (APC) superfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 523523Asc-type amino acid transporter 1
PRO_0000054276

Regions

Transmembrane40 – 6021Helical; Potential
Transmembrane72 – 9221Helical; Potential
Transmembrane113 – 13321Helical; Potential
Transmembrane268 – 28821Helical; Potential
Transmembrane310 – 33021Helical; Potential
Transmembrane362 – 38221Helical; Potential
Transmembrane388 – 40821Helical; Potential
Transmembrane424 – 44421Helical; Potential
Transmembrane448 – 46821Helical; Potential

Natural variations

Natural variant1121E → D in a family with cystinuria. Ref.2
Corresponds to variant rs79717007 [ dbSNP | Ensembl ].
VAR_014282
Natural variant4131R → Q.
Corresponds to variant rs34663170 [ dbSNP | Ensembl ].
VAR_048158

Sequences

Sequence LengthMass (Da)Tools
Q9NS82 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 24BA0B36521AC2D4

FASTA52356,798
        10         20         30         40         50         60 
MAGHTQQPSG RGNPRPAPSP SPVPGTVPGA SERVALKKEI GLLSACTIII GNIIGSGIFI 

        70         80         90        100        110        120 
SPKGVLEHSG SVGLALFVWV LGGGVTALGS LCYAELGVAI PKSGGDYAYV TEIFGGLAGF 

       130        140        150        160        170        180 
LLLWSAVLIM YPTSLAVISM TFSNYVLQPV FPNCIPPTTA SRVLSMACLM LLTWVNSSSV 

       190        200        210        220        230        240 
RWATRIQDMF TGGKLLALSL IIGVGLLQIF QGHFEELRPS NAFAFWMTPS VGHLALAFLQ 

       250        260        270        280        290        300 
GSFAFSGWNF LNYVTEEMVD ARKNLPRAIF ISIPLVTFVY TFTNIAYFTA MSPQELLSSN 

       310        320        330        340        350        360 
AVAVTFGEKL LGYFSWVMPV SVALSTFGGI NGYLFTYSRL CFSGAREGHL PSLLAMIHVR 

       370        380        390        400        410        420 
HCTPIPALLV CCGATAVIML VGDTYTLINY VSFINYLCYG VTILGLLLLR WRRPALHRPI 

       430        440        450        460        470        480 
KVNLLIPVAY LVFWAFLLVF SFISEPMVCG VGVIIILTGV PIFFLGVFWR SKPKCVHRLT 

       490        500        510        520 
ESMTHWGQEL CFVVYPQDAP EEEENGPCPP SLLPATDKPS KPQ 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and characterization of a human brain Na+-independent transporter for small neutral amino acids that transports D-serine with high affinity."
Nakauchi J., Matsuo H., Kim D.K., Goto A., Chairoungdua A., Cha S.H., Inatomi J., Shiokawa Y., Yamaguchi K., Saito I., Endou H., Kanai Y.
Neurosci. Lett. 287:231-235(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
Tissue: Brain.
[2]"Is the SLC7A10 gene on chromosome 19 a candidate locus for cystinuria?"
Leclerc D., Wu Q., Ellis J.R., Goodyer P., Rozen R.
Mol. Genet. Metab. 73:333-339(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASP-112.
[3]Bassi M.T., Borsani G., Nunes V., Palacin M.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Kidney.
[4]"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].
Tissue: Amygdala.
[5]"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: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037670 mRNA. Translation: BAB03213.1.
AF340165 expand/collapse EMBL AC list , AF340155, AF340156, AF340157, AF340158, AF340159, AF340160, AF340161, AF340162, AF340163, AF340164 Genomic DNA. Translation: AAK93960.1.
AJ277731 mRNA. Translation: CAC81900.1.
AK316594 mRNA. Translation: BAG38181.1.
BC035627 mRNA. Translation: AAH35627.1.
CCDSCCDS12431.1.
RefSeqNP_062823.1. NM_019849.2.
UniGeneHs.58679.

3D structure databases

ProteinModelPortalQ9NS82.
SMRQ9NS82. Positions 39-370.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000253188.

Protein family/group databases

TCDB2.A.3.8.21. the amino acid-polyamine-organocation (apc) family.

PTM databases

PhosphoSiteQ9NS82.

Polymorphism databases

DMDM25089504.

Proteomic databases

PRIDEQ9NS82.

Protocols and materials databases

DNASU56301.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000253188; ENSP00000253188; ENSG00000130876.
GeneID56301.
KEGGhsa:56301.
UCSCuc002num.2. human.

Organism-specific databases

CTD56301.
GeneCardsGC19M033699.
HGNCHGNC:11058. SLC7A10.
HPAHPA041884.
MIM607959. gene.
neXtProtNX_Q9NS82.
PharmGKBPA35918.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0531.
HOGENOMHOG000098892.
HOVERGENHBG000476.
InParanoidQ9NS82.
KOK13782.
OMAVPPYMAT.
OrthoDBEOG73BVCR.
PhylomeDBQ9NS82.
TreeFamTF313355.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.
REACT_19419. Amino acid and oligopeptide SLC transporters.
REACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ9NS82.
BgeeQ9NS82.
CleanExHS_SLC7A10.
GenevestigatorQ9NS82.

Family and domain databases

InterProIPR002293. AA/rel_permease1.
[Graphical view]
PANTHERPTHR11785. PTHR11785. 1 hit.
PfamPF13520. AA_permease_2. 1 hit.
[Graphical view]
PIRSFPIRSF006060. AA_transporter. 1 hit.
ProtoNetSearch...

Other

GeneWikiSLC7A10.
GenomeRNAi56301.
NextBio61967.
PROQ9NS82.
SOURCESearch...

Entry information

Entry nameAAA1_HUMAN
AccessionPrimary (citable) accession number: Q9NS82
Secondary accession number(s): B2RE84
Entry history
Integrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 108 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM