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A6NNN8

- S38A8_HUMAN

UniProt

A6NNN8 - S38A8_HUMAN

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Protein

Putative sodium-coupled neutral amino acid transporter 8

Gene

SLC38A8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

Putative sodium-dependent amino acid/proton antiporter.By similarity

GO - Biological processi

  1. amino acid transport Source: UniProtKB-KW
  2. sodium ion transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Protein family/group databases

TCDBi2.A.18.6.12. the amino acid/auxin permease (aaap) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Putative sodium-coupled neutral amino acid transporter 8
Alternative name(s):
Solute carrier family 38 member 8
Gene namesi
Name:SLC38A8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:32434. SLC38A8.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Foveal hypoplasia 2 (FVH2) [MIM:609218]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Optic nerve misrouting and anterior segment dysgenesis are observed in some FVH2 patients.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321I → S in FVH2. 1 Publication
VAR_071252
Natural varianti34 – 341M → R in FVH2. 1 Publication
VAR_071253
Natural varianti233 – 2331E → K in FVH2. 1 Publication
VAR_071254
Natural varianti236 – 2361V → D in FVH2. 1 Publication
VAR_071255
Natural varianti282 – 2821Missing in FVH2. 1 Publication
VAR_071256
Natural varianti412 – 4121G → R in FVH2. 1 Publication
VAR_071257

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi609218. phenotype.
Orphaneti397618. Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome.
PharmGKBiPA162403773.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 435435Putative sodium-coupled neutral amino acid transporter 8PRO_0000319593Add
BLAST

Proteomic databases

PaxDbiA6NNN8.
PRIDEiA6NNN8.

PTM databases

PhosphoSiteiA6NNN8.

Expressioni

Tissue specificityi

Expressed in fetal and adult brain, and spinal cord. In the brain, it is localized in the cell body and axon of the majority of neuronal cells and in a subset of glial cells. Found throughout the neuronal retina, with higher expression levels in the inner and outer plexiform layers and the photoreceptor layer. Very weak expression is also present in the kidneys, thymus, and testes.1 Publication

Gene expression databases

BgeeiA6NNN8.
CleanExiHS_SLC38A8.
ExpressionAtlasiA6NNN8. baseline.
GenevestigatoriA6NNN8.

Structurei

3D structure databases

ProteinModelPortaliA6NNN8.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalSequence AnalysisAdd
BLAST
Transmembranei55 – 7521HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei151 – 17121HelicalSequence AnalysisAdd
BLAST
Transmembranei178 – 19821HelicalSequence AnalysisAdd
BLAST
Transmembranei218 – 24023HelicalSequence AnalysisAdd
BLAST
Transmembranei250 – 27021HelicalSequence AnalysisAdd
BLAST
Transmembranei295 – 31521HelicalSequence AnalysisAdd
BLAST
Transmembranei348 – 36821HelicalSequence AnalysisAdd
BLAST
Transmembranei374 – 39421HelicalSequence AnalysisAdd
BLAST
Transmembranei410 – 43021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0814.
GeneTreeiENSGT00710000106751.
HOGENOMiHOG000008036.
HOVERGENiHBG055999.
InParanoidiA6NNN8.
KOiK14994.
OMAiIFGQSTV.
OrthoDBiEOG769ZJG.
PhylomeDBiA6NNN8.
TreeFamiTF328787.

Family and domain databases

InterProiIPR013057. AA_transpt_TM.
[Graphical view]
PfamiPF01490. Aa_trans. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

A6NNN8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEGQTPGSRG LPEKPHPATA AATLSSMGAV FILMKSALGA GLLNFPWAFS
60 70 80 90 100
KAGGVVPAFL VELVSLVFLI SGLVILGYAA AVSGQATYQG VVRGLCGPAI
110 120 130 140 150
GKLCEACFLL NLLMISVAFL RVIGDQLEKL CDSLLSGTPP APQPWYADQR
160 170 180 190 200
FTLPLLSVLV ILPLSAPREI AFQKYTSILG TLAACYLALV ITVQYYLWPQ
210 220 230 240 250
GLVRESHPSL SPASWTSVFS VFPTICFGFQ CHEAAVSIYC SMRKRSLSHW
260 270 280 290 300
ALVSVLSLLA CCLIYSLTGV YGFLTFGTEV SADVLMSYPG NDMVIIVARV
310 320 330 340 350
LFAVSIVTVY PIVLFLGRSV MQDFWRRSCL GGWGPSALAD PSGLWVRMPL
360 370 380 390 400
TILWVTVTLA MALFMPDLSE IVSIIGGISS FFIFIFPGLC LICAMGVEPI
410 420 430
GPRVKCCLEV WGVVSVLVGT FIFGQSTAAA VWEMF
Length:435
Mass (Da):46,731
Last modified:July 24, 2007 - v1
Checksum:iBFB558790F654F9F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321I → S in FVH2. 1 Publication
VAR_071252
Natural varianti34 – 341M → R in FVH2. 1 Publication
VAR_071253
Natural varianti220 – 2201S → T.
Corresponds to variant rs11862366 [ dbSNP | Ensembl ].
VAR_048125
Natural varianti233 – 2331E → K in FVH2. 1 Publication
VAR_071254
Natural varianti236 – 2361V → D in FVH2. 1 Publication
VAR_071255
Natural varianti282 – 2821Missing in FVH2. 1 Publication
VAR_071256
Natural varianti412 – 4121G → R in FVH2. 1 Publication
VAR_071257

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC040169 Genomic DNA. No translation available.
CCDSiCCDS32495.1.
RefSeqiNP_001073911.1. NM_001080442.2.
XP_006721198.1. XM_006721135.1.

Genome annotation databases

EnsembliENST00000299709; ENSP00000299709; ENSG00000166558.
GeneIDi146167.
KEGGihsa:146167.
UCSCiuc002fhg.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC040169 Genomic DNA. No translation available.
CCDSi CCDS32495.1.
RefSeqi NP_001073911.1. NM_001080442.2.
XP_006721198.1. XM_006721135.1.

3D structure databases

ProteinModelPortali A6NNN8.
ModBasei Search...
MobiDBi Search...

Protein family/group databases

TCDBi 2.A.18.6.12. the amino acid/auxin permease (aaap) family.

PTM databases

PhosphoSitei A6NNN8.

Proteomic databases

PaxDbi A6NNN8.
PRIDEi A6NNN8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299709 ; ENSP00000299709 ; ENSG00000166558 .
GeneIDi 146167.
KEGGi hsa:146167.
UCSCi uc002fhg.1. human.

Organism-specific databases

CTDi 146167.
GeneCardsi GC16M084043.
HGNCi HGNC:32434. SLC38A8.
MIMi 609218. phenotype.
615585. gene.
neXtProti NX_A6NNN8.
Orphaneti 397618. Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome.
PharmGKBi PA162403773.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0814.
GeneTreei ENSGT00710000106751.
HOGENOMi HOG000008036.
HOVERGENi HBG055999.
InParanoidi A6NNN8.
KOi K14994.
OMAi IFGQSTV.
OrthoDBi EOG769ZJG.
PhylomeDBi A6NNN8.
TreeFami TF328787.

Miscellaneous databases

GenomeRNAii 146167.
NextBioi 85262.
PROi A6NNN8.
SOURCEi Search...

Gene expression databases

Bgeei A6NNN8.
CleanExi HS_SLC38A8.
ExpressionAtlasi A6NNN8. baseline.
Genevestigatori A6NNN8.

Family and domain databases

InterProi IPR013057. AA_transpt_TM.
[Graphical view ]
Pfami PF01490. Aa_trans. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: TISSUE SPECIFICITY, VARIANTS FVH2 ARG-34; LYS-233; ASP-236; ALA-282 DEL AND ARG-412.
  3. "Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation."
    Perez Y., Gradstein L., Flusser H., Markus B., Cohen I., Langer Y., Marcus M., Lifshitz T., Kadir R., Birk O.S.
    Eur. J. Hum. Genet. 22:703-706(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FVH2 SER-32.

Entry informationi

Entry nameiS38A8_HUMAN
AccessioniPrimary (citable) accession number: A6NNN8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: July 24, 2007
Last modified: October 29, 2014
This is version 61 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 16
    Human chromosome 16: 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