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UniProtKB - Q7Z2H8 (S36A1_HUMAN)

Entry version 152 (17 Jun 2020)
Sequence version 1 (01 Oct 2003)
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Protein

Proton-coupled amino acid transporter 1

Gene

SLC36A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAmino-acid transport, Symport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-428559 Proton-coupled neutral amino acid transporters

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.18.8.7 the amino acid/auxin permease (aaap) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Proton-coupled amino acid transporter 1
Short name:
Proton/amino acid transporter 1
Short name:
hPAT1
Alternative name(s):
Solute carrier family 36 member 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC36A1
Synonyms:PAT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000123643.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:18761 SLC36A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606561 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7Z2H8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 51CytoplasmicSequence analysisAdd BLAST51
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei52 – 72Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini73 – 78ExtracellularSequence analysis6
Transmembranei79 – 99Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini100 – 141CytoplasmicSequence analysisAdd BLAST42
Transmembranei142 – 162Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini163 – 190ExtracellularSequence analysisAdd BLAST28
Transmembranei191 – 211Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini212 – 215CytoplasmicSequence analysis4
Transmembranei216 – 236Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini237 – 257ExtracellularSequence analysisAdd BLAST21
Transmembranei258 – 278Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini279 – 289CytoplasmicSequence analysisAdd BLAST11
Transmembranei290 – 310Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini311 – 342ExtracellularSequence analysisAdd BLAST32
Transmembranei343 – 363Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini364 – 372CytoplasmicSequence analysis9
Transmembranei373 – 393Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini394 – 397ExtracellularSequence analysis4
Transmembranei398 – 418Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini419 – 439CytoplasmicSequence analysisAdd BLAST21
Transmembranei440 – 460Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini461 – 476ExtracellularSequence analysisAdd BLAST16

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi180C → A or S: Abolishes the transport function. 1 Publication1
Mutagenesisi329C → A or S: Abolishes the transport function. 1 Publication1
Mutagenesisi473C → A or S: No effect. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		206358

Open Targets

More...OpenTargetsi		ENSG00000123643

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134870308

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7Z2H8 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1914279

Drug and drug target database

More...DrugBanki		DB00659 Acamprosate
DB00160 Alanine
DB02853 D-Proline
DB06554 Gaboxadol
DB02530 gamma-Aminobutyric acid
DB00145 Glycine
DB08847 Hydroxyproline
DB00563 Methotrexate
DB08849 Nipecotic acid
DB08835 Spaglumic Acid
DB01956 Taurine
DB01080 Vigabatrin

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		1161

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC36A1

Domain mapping of disease mutations (DMDM)

More...DMDMi		51316800

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000938251 – 476Proton-coupled amino acid transporter 1Add BLAST476

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi180 ↔ 3291 Publication
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi470N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z2H8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7Z2H8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7Z2H8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q7Z2H8

PeptideAtlas

More...PeptideAtlasi		Q7Z2H8

PRoteomics IDEntifications database

More...PRIDEi		Q7Z2H8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		10285
68959 [Q7Z2H8-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q7Z2H8-1 [Q7Z2H8-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7Z2H8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q7Z2H8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000123643 Expressed in right hemisphere of cerebellum and 206 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7Z2H8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7Z2H8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000123643 Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128503, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q7Z2H8, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000243389

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q7Z2H8

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7Z2H8 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the amino acid/polyamine transporter 2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1304 Eukaryota
COG0814 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156583

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009646_0_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7Z2H8

KEGG Orthology (KO)

More...KOi		K14209

Identification of Orthologs from Complete Genome Data

More...OMAi		ALCYATF

Database of Orthologous Groups

More...OrthoDBi		464614at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7Z2H8

TreeFam database of animal gene trees

More...TreeFami		TF314873

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013057 AA_transpt_TM

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01490 Aa_trans, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z2H8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSTQRLRNED YHDYSSTDVS PEESPSEGLN NLSSPGSYQR FGQSNSTTWF 
        60         70         80         90        100
QTLIHLLKGN IGTGLLGLPL AVKNAGIVMG PISLLIIGIV AVHCMGILVK 
       110        120        130        140        150
CAHHFCRRLN KSFVDYGDTV MYGLESSPCS WLRNHAHWGR RVVDFFLIVT 
       160        170        180        190        200
QLGFCCVYFV FLADNFKQVI EAANGTTNNC HNNETVILTP TMDSRLYMLS 
       210        220        230        240        250
FLPFLVLLVF IRNLRALSIF SLLANITMLV SLVMIYQFIV QRIPDPSHLP 
       260        270        280        290        300
LVAPWKTYPL FFGTAIFSFE GIGMVLPLEN KMKDPRKFPL ILYLGMVIVT 
       310        320        330        340        350
ILYISLGCLG YLQFGANIQG SITLNLPNCW LYQSVKLLYS IGIFFTYALQ 
       360        370        380        390        400
FYVPAEIIIP FFVSRAPEHC ELVVDLFVRT VLVCLTCILA ILIPRLDLVI 
       410        420        430        440        450
SLVGSVSSSA LALIIPPLLE VTTFYSEGMS PLTIFKDALI SILGFVGFVV 
       460        470 
GTYEALYELI QPSNAPIFIN STCAFI
Length:476
Mass (Da):53,076
Last modified:October 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i628AE7FC7A6559F0
GO
Isoform 2 (identifier: Q7Z2H8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     387-476: Missing.

Show »
Length:386
Mass (Da):43,487
Checksum:i3591BF6A356FD808
GO
Isoform 3 (identifier: Q7Z2H8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-243: RI → IL
     244-476: Missing.

Show »
Length:243
Mass (Da):27,278
Checksum:i602053121F38BE5D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RHG5E5RHG5_HUMAN
Proton-coupled amino acid transport...
SLC36A1
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EW39E7EW39_HUMAN
Proton-coupled amino acid transport...
SLC36A1
388Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YB60H0YB60_HUMAN
Proton-coupled amino acid transport...
SLC36A1
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RI40E5RI40_HUMAN
Proton-coupled amino acid transport...
SLC36A1
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YBS2H0YBS2_HUMAN
Proton-coupled amino acid transport...
SLC36A1
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RG64E5RG64_HUMAN
Proton-coupled amino acid transport...
SLC36A1
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB71435 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti72V → A in BAB71435 (PubMed:14702039).Curated1
Sequence conflicti394P → L in AAP47194 (PubMed:12527723).Curated1
Sequence conflicti446V → G in AAP47194 (PubMed:12527723).Curated1
Sequence conflicti449 – 450VV → GG in AAP47194 (PubMed:12527723).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_048122362F → L. Corresponds to variant dbSNP:rs9687945Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044390242 – 243RI → IL in isoform 3. 1 Publication2
Alternative sequenceiVSP_044391244 – 476Missing in isoform 3. 1 PublicationAdd BLAST233
Alternative sequenceiVSP_044392387 – 476Missing in isoform 2. 1 PublicationAdd BLAST90

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY162213 mRNA Translation: AAO11787.1
AF516142 mRNA Translation: AAP47194.1
AY227111 mRNA Translation: AAO37091.1
AY227112 mRNA Translation: AAO37092.1
AY227113 mRNA Translation: AAO37093.1
BX537963 mRNA Translation: CAD97927.1
AC034205 Genomic DNA No translation available.
BC136437 mRNA Translation: AAI36438.1
BC136438 mRNA Translation: AAI36439.1
AK057340 mRNA Translation: BAB71435.1 Sequence problems.
BK001052 mRNA Translation: DAA01126.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4316.1 [Q7Z2H8-1]
CCDS78073.1 [Q7Z2H8-4]
CCDS83035.1 [Q7Z2H8-3]

NCBI Reference Sequences

More...RefSeqi		NP_001295079.1, NM_001308150.1 [Q7Z2H8-3]
NP_001295080.1, NM_001308151.1 [Q7Z2H8-4]
NP_510968.2, NM_078483.3 [Q7Z2H8-1]
XP_005268443.1, XM_005268386.1 [Q7Z2H8-1]
XP_011535883.1, XM_011537581.1 [Q7Z2H8-1]
XP_011535885.1, XM_011537583.2 [Q7Z2H8-1]
XP_011535886.1, XM_011537584.2 [Q7Z2H8-1]
XP_011535887.1, XM_011537585.1 [Q7Z2H8-1]
XP_011535888.1, XM_011537586.2 [Q7Z2H8-1]
XP_011535889.1, XM_011537587.2 [Q7Z2H8-1]
XP_011535890.1, XM_011537588.2
XP_011535891.1, XM_011537589.2 [Q7Z2H8-1]
XP_011535892.1, XM_011537590.1 [Q7Z2H8-1]
XP_011535893.1, XM_011537591.1 [Q7Z2H8-1]
XP_011535894.1, XM_011537592.2 [Q7Z2H8-1]
XP_016864705.1, XM_017009216.1 [Q7Z2H8-1]
XP_016864709.1, XM_017009220.1 [Q7Z2H8-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000243389; ENSP00000243389; ENSG00000123643 [Q7Z2H8-1]
ENST00000429484; ENSP00000395640; ENSG00000123643 [Q7Z2H8-4]
ENST00000520701; ENSP00000428140; ENSG00000123643 [Q7Z2H8-1]
ENST00000616007; ENSP00000480948; ENSG00000123643 [Q7Z2H8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		206358

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:206358

UCSC genome browser

More...UCSCi		uc003luc.4 human [Q7Z2H8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY162213 mRNA Translation: AAO11787.1
AF516142 mRNA Translation: AAP47194.1
AY227111 mRNA Translation: AAO37091.1
AY227112 mRNA Translation: AAO37092.1
AY227113 mRNA Translation: AAO37093.1
BX537963 mRNA Translation: CAD97927.1
AC034205 Genomic DNA No translation available.
BC136437 mRNA Translation: AAI36438.1
BC136438 mRNA Translation: AAI36439.1
AK057340 mRNA Translation: BAB71435.1 Sequence problems.
BK001052 mRNA Translation: DAA01126.1
CCDSiCCDS4316.1 [Q7Z2H8-1]
CCDS78073.1 [Q7Z2H8-4]
CCDS83035.1 [Q7Z2H8-3]
RefSeqiNP_001295079.1, NM_001308150.1 [Q7Z2H8-3]
NP_001295080.1, NM_001308151.1 [Q7Z2H8-4]
NP_510968.2, NM_078483.3 [Q7Z2H8-1]
XP_005268443.1, XM_005268386.1 [Q7Z2H8-1]
XP_011535883.1, XM_011537581.1 [Q7Z2H8-1]
XP_011535885.1, XM_011537583.2 [Q7Z2H8-1]
XP_011535886.1, XM_011537584.2 [Q7Z2H8-1]
XP_011535887.1, XM_011537585.1 [Q7Z2H8-1]
XP_011535888.1, XM_011537586.2 [Q7Z2H8-1]
XP_011535889.1, XM_011537587.2 [Q7Z2H8-1]
XP_011535890.1, XM_011537588.2
XP_011535891.1, XM_011537589.2 [Q7Z2H8-1]
XP_011535892.1, XM_011537590.1 [Q7Z2H8-1]
XP_011535893.1, XM_011537591.1 [Q7Z2H8-1]
XP_011535894.1, XM_011537592.2 [Q7Z2H8-1]
XP_016864705.1, XM_017009216.1 [Q7Z2H8-1]
XP_016864709.1, XM_017009220.1 [Q7Z2H8-4]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi128503, 3 interactors
IntActiQ7Z2H8, 9 interactors
STRINGi9606.ENSP00000243389

Chemistry databases

BindingDBiQ7Z2H8
ChEMBLiCHEMBL1914279
DrugBankiDB00659 Acamprosate
DB00160 Alanine
DB02853 D-Proline
DB06554 Gaboxadol
DB02530 gamma-Aminobutyric acid
DB00145 Glycine
DB08847 Hydroxyproline
DB00563 Methotrexate
DB08849 Nipecotic acid
DB08835 Spaglumic Acid
DB01956 Taurine
DB01080 Vigabatrin
GuidetoPHARMACOLOGYi1161

Protein family/group databases

TCDBi2.A.18.8.7 the amino acid/auxin permease (aaap) family

PTM databases

iPTMnetiQ7Z2H8
PhosphoSitePlusiQ7Z2H8

Polymorphism and mutation databases

BioMutaiSLC36A1
DMDMi51316800

Proteomic databases

jPOSTiQ7Z2H8
MassIVEiQ7Z2H8
MaxQBiQ7Z2H8
PaxDbiQ7Z2H8
PeptideAtlasiQ7Z2H8
PRIDEiQ7Z2H8
ProteomicsDBi10285
68959 [Q7Z2H8-1]
TopDownProteomicsiQ7Z2H8-1 [Q7Z2H8-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49166 77 antibodies

The DNASU plasmid repository

More...DNASUi		206358

Genome annotation databases

EnsembliENST00000243389; ENSP00000243389; ENSG00000123643 [Q7Z2H8-1]
ENST00000429484; ENSP00000395640; ENSG00000123643 [Q7Z2H8-4]
ENST00000520701; ENSP00000428140; ENSG00000123643 [Q7Z2H8-1]
ENST00000616007; ENSP00000480948; ENSG00000123643 [Q7Z2H8-3]
GeneIDi206358
KEGGihsa:206358
UCSCiuc003luc.4 human [Q7Z2H8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		206358
DisGeNETi206358
EuPathDBiHostDB:ENSG00000123643.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC36A1
HGNCiHGNC:18761 SLC36A1
HPAiENSG00000123643 Tissue enhanced (brain)
MIMi606561 gene
neXtProtiNX_Q7Z2H8
OpenTargetsiENSG00000123643
PharmGKBiPA134870308

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1304 Eukaryota
COG0814 LUCA
GeneTreeiENSGT00940000156583
HOGENOMiCLU_009646_0_2_1
InParanoidiQ7Z2H8
KOiK14209
OMAiALCYATF
OrthoDBi464614at2759
PhylomeDBiQ7Z2H8
TreeFamiTF314873

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-428559 Proton-coupled neutral amino acid transporters

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		206358 1 hit in 786 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC36A1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC36A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		206358
PharosiQ7Z2H8 Tchem

Protein Ontology

More...PROi		PR:Q7Z2H8
RNActiQ7Z2H8 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000123643 Expressed in right hemisphere of cerebellum and 206 other tissues
ExpressionAtlasiQ7Z2H8 baseline and differential
GenevisibleiQ7Z2H8 HS

Family and domain databases

InterProiView protein in InterPro
IPR013057 AA_transpt_TM
PfamiView protein in Pfam
PF01490 Aa_trans, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS36A1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7Z2H8
Secondary accession number(s): C9JI34
, Q1LZ56, Q7Z7C0, Q86YK4, Q96M74
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: June 17, 2020
This is version 152 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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