Q9NS82 (AAA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	523 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Amino-acid transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	D-alanine transport Inferred from electronic annotation. Source: Compara D-serine transport Inferred from electronic annotation. Source: Compara blood coagulation Traceable author statement. Source: Reactome leukocyte migration Traceable author statement. Source: Reactome
Cellular_component	integral to plasma membrane Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	L-serine transmembrane transporter activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 523	523	Asc-type amino acid transporter 1		PRO_0000054276
Regions
	Transmembrane	40 – 60	21	Helical; Potential
	Transmembrane	72 – 92	21	Helical; Potential
	Transmembrane	113 – 133	21	Helical; Potential
	Transmembrane	268 – 288	21	Helical; Potential
	Transmembrane	310 – 330	21	Helical; Potential
	Transmembrane	362 – 382	21	Helical; Potential
	Transmembrane	388 – 408	21	Helical; Potential
	Transmembrane	424 – 444	21	Helical; Potential
	Transmembrane	448 – 468	21	Helical; Potential
Natural variations
	Natural variant	112	1	E → D in a family with cystinuria. Ref.2		VAR_014282
	Natural variant	413	1	R → Q. Corresponds to variant rs34663170 [ dbSNP | Ensembl ].		VAR_048158

Sequences

	Sequence		Length	Mass (Da)
	Q9NS82 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 24BA0B36521AC2D4	FASTA	523	56,798
	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

References

	« Hide 'large scale' referencesShow '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. , 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 , 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.
IPI	IPI00164782.
RefSeq	NP_062823.1. NM_019849.2.
UniGene	Hs.58679.
3D structure databases
ProteinModelPortal	Q9NS82.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000253188.
PTM databases
PhosphoSite	Q9NS82.
Polymorphism databases
DMDM	25089504.
Proteomic databases
PRIDE	Q9NS82.
Protocols and materials databases
DNASU	56301.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000253188; ENSP00000253188; ENSG00000130876.
GeneID	56301.
KEGG	hsa:56301.
UCSC	uc002num.2. human.
Organism-specific databases
CTD	56301.
GeneCards	GC19M033699.
HGNC	HGNC:11058. SLC7A10.
HPA	HPA041884.
MIM	607959. gene.
neXtProt	NX_Q9NS82.
PharmGKB	PA35918.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0531.
HOGENOM	HOG000098892.
HOVERGEN	HBG000476.
InParanoid	Q9NS82.
KO	K13782.
OMA	PKIFRPI.
OrthoDB	EOG4V437M.
PhylomeDB	Q9NS82.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules. REACT_19419. Amino acid and oligopeptide SLC transporters. REACT_604. Hemostasis.
Gene expression databases
Bgee	Q9NS82.
CleanEx	HS_SLC7A10.
Genevestigator	Q9NS82.
GermOnline	ENSG00000130876. Homo sapiens.
Family and domain databases
InterPro	IPR002293. AA/rel_permease1. [Graphical view]
PANTHER	PTHR11785. PTHR11785. 1 hit.
PIRSF	PIRSF006060. AA_transporter. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	56301.
NextBio	61967.
SOURCE	Search...

Entry information

Entry name

AAA1_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.