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UniProtKB - Q13424 (SNTA1_HUMAN)

Entry version 186 (16 Oct 2019)
Sequence version 1 (01 Nov 1996)
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Protein

Alpha-1-syntrophin

Gene

SNTA1

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

Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).By similarity

<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

Molecular functionActin-binding, Calmodulin-binding
LigandCalcium

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q13424

<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_and_taxonomy_section">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:
Alpha-1-syntrophin
Alternative name(s):
59 kDa dystrophin-associated protein A1 acidic component 1
Pro-TGF-alpha cytoplasmic domain-interacting protein 1
Short name:
TACIP1
Syntrophin-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SNTA1
Synonyms:SNT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11167 SNTA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601017 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13424

<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

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Long QT syndrome 12 (LQT12)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Related information in OMIM
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_062399257A → G in LQT12; leads to a gain of function of the voltage dependent sodium channel. 1 PublicationCorresponds to variant dbSNP:rs56157422EnsemblClinVar.1
Natural variantiVAR_062400390A → V in LQT12; results in released inhibition of nNOS, S-nitrosylation of SCN5A and increased late sodium current. 1 PublicationCorresponds to variant dbSNP:rs121434500EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		6640

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SNTA1

MalaCards human disease database

More...MalaCardsi		SNTA1
MIMi612955 phenotype

Open Targets

More...OpenTargetsi		ENSG00000101400

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		101016 Romano-Ward syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36007

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13424

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SNTA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		23822157

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001840061 – 505Alpha-1-syntrophinAdd BLAST505

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei101PhosphoserineBy similarity1
Modified residuei184PhosphoserineCombined sources1
Modified residuei189PhosphoserineCombined sources1
Modified residuei193PhosphoserineCombined sources1
Modified residuei200PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q13424

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13424

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13424

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q13424

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

More...PaxDbi		Q13424

PeptideAtlas

More...PeptideAtlasi		Q13424

PRoteomics IDEntifications database

More...PRIDEi		Q13424

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59409 [Q13424-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13424

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

More...PhosphoSitePlusi		Q13424

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000101400 Expressed in 207 organ(s), highest expression level in apex of heart

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13424 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB037059

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer and homodimer.

Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity).

Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA.

Interacts with MYOC; regulates muscle hypertrophy (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112523, 86 interactors

Database of interacting proteins

More...DIPi		DIP-966N

Protein interaction database and analysis system

More...IntActi		Q13424, 33 interactors

Molecular INTeraction database

More...MINTi		Q13424

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000217381

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13424

Database of comparative protein structure models

More...ModBasei		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini6 – 269PH 1PROSITE-ProRule annotationAdd BLAST264
Domaini87 – 170PDZPROSITE-ProRule annotationAdd BLAST84
Domaini293 – 401PH 2PROSITE-ProRule annotationAdd BLAST109
Domaini449 – 505SUAdd BLAST57

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni483 – 505Calmodulin-bindingBy similarityAdd BLAST23

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate.By similarity
The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).By similarity
The SU domain binds calmodulin in a calcium-dependent manner.By similarity

<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 syntrophin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IMRM Eukaryota
ENOG410XS4Y LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182863

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231596

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13424

Identification of Orthologs from Complete Genome Data

More...OMAi		YFEVISS

Database of Orthologous Groups

More...OrthoDBi		1261897at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13424

TreeFam database of animal gene trees

More...TreeFami		TF317932

Family and domain databases

Conserved Domains Database

More...CDDi		cd01258 PHsplit_syntrophin, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR041428 PHsplit_syntrophin
IPR028552 SNTA1
IPR015482 Syntrophin

The PANTHER Classification System

More...PANTHERi		PTHR10554 PTHR10554, 1 hit
PTHR10554:SF6 PTHR10554:SF6, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00595 PDZ, 1 hit
PF00169 PH, 1 hit
PF18012 PH_17, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00228 PDZ, 1 hit
SM00233 PH, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50106 PDZ, 1 hit
PS50003 PH_DOMAIN, 2 hits

<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_length">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 (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q13424-1) [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
MASGRRAPRT GLLELRAGAG SGAGGERWQR VLLSLAEDVL TVSPADGDPG 
        60         70         80         90        100
PEPGAPREQE PAQLNGAAEP GAGPPQLPEA LLLQRRRVTV RKADAGGLGI 
       110        120        130        140        150
SIKGGRENKM PILISKIFKG LAADQTEALF VGDAILSVNG EDLSSATHDE 
       160        170        180        190        200
AVQVLKKTGK EVVLEVKYMK DVSPYFKNST GGTSVGWDSP PASPLQRQPS 
       210        220        230        240        250
SPGPTPRNFS EAKHMSLKMA YVSKRCTPND PEPRYLEICS ADGQDTLFLR 
       260        270        280        290        300
AKDEASARSW ATAIQAQVNT LTPRVKDELQ ALLAATSTAG SQDIKQIGWL 
       310        320        330        340        350
TEQLPSGGTA PTLALLTEKE LLLYLSLPET REALSRPART APLIATRLVH 
       360        370        380        390        400
SGPSKGSVPY DAELSFALRT GTRHGVDTHL FSVESPQELA AWTRQLVDGC 
       410        420        430        440        450
HRAAEGVQEV STACTWNGRP CSLSVHIDKG FTLWAAEPGA ARAVLLRQPF 
       460        470        480        490        500
EKLQMSSDDG ASLLFLDFGG AEGEIQLDLH SCPKTIVFII HSFLSAKVTR 

LGLLA
Length:505
Mass (Da):53,895
Last modified:November 1, 1996 - 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:iC07DA5F21C775CF8
GO
Isoform 2 (identifier: Q13424-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     254-328: Missing.

Note: No experimental confirmation available.
Show »
Length:430
Mass (Da):45,951
Checksum:iCC6ACFC81506F650
GO

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 conflicti6R → P in AAB36398 (PubMed:8612778).Curated1
Sequence conflicti25G → A in AAB36398 (PubMed:8612778).Curated1
Sequence conflicti32 – 33LL → PV in AAB36398 (PubMed:8612778).Curated2
Sequence conflicti66G → D in AAB36398 (PubMed:8612778).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062399257A → G in LQT12; leads to a gain of function of the voltage dependent sodium channel. 1 PublicationCorresponds to variant dbSNP:rs56157422EnsemblClinVar.1
Natural variantiVAR_014075364L → F. Corresponds to variant dbSNP:rs1046815Ensembl.1
Natural variantiVAR_062400390A → V in LQT12; results in released inhibition of nNOS, S-nitrosylation of SCN5A and increased late sodium current. 1 PublicationCorresponds to variant dbSNP:rs121434500EnsemblClinVar.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_056827254 – 328Missing in isoform 2. 1 PublicationAdd BLAST75

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
U40571 mRNA Translation: AAC50448.1
S81737 mRNA Translation: AAB36398.1
AL355392 Genomic DNA No translation available.
AK291994 mRNA Translation: BAF84683.1
AK301800 mRNA Translation: BAG63252.1
CH471077 Genomic DNA Translation: EAW76316.1
CH471077 Genomic DNA Translation: EAW76317.1
BC026215 mRNA Translation: AAH26215.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13220.1 [Q13424-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S62894

NCBI Reference Sequences

More...RefSeqi		NP_003089.1, NM_003098.2 [Q13424-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000217381; ENSP00000217381; ENSG00000101400 [Q13424-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6640

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6640

UCSC genome browser

More...UCSCi		uc002wzd.2 human [Q13424-1]

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
U40571 mRNA Translation: AAC50448.1
S81737 mRNA Translation: AAB36398.1
AL355392 Genomic DNA No translation available.
AK291994 mRNA Translation: BAF84683.1
AK301800 mRNA Translation: BAG63252.1
CH471077 Genomic DNA Translation: EAW76316.1
CH471077 Genomic DNA Translation: EAW76317.1
BC026215 mRNA Translation: AAH26215.1
CCDSiCCDS13220.1 [Q13424-1]
PIRiS62894
RefSeqiNP_003089.1, NM_003098.2 [Q13424-1]

3D structure databases

SMRiQ13424
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112523, 86 interactors
DIPiDIP-966N
IntActiQ13424, 33 interactors
MINTiQ13424
STRINGi9606.ENSP00000217381

PTM databases

iPTMnetiQ13424
PhosphoSitePlusiQ13424

Polymorphism and mutation databases

BioMutaiSNTA1
DMDMi23822157

Proteomic databases

EPDiQ13424
jPOSTiQ13424
MassIVEiQ13424
MaxQBiQ13424
PaxDbiQ13424
PeptideAtlasiQ13424
PRIDEiQ13424
ProteomicsDBi59409 [Q13424-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		6640

Genome annotation databases

EnsembliENST00000217381; ENSP00000217381; ENSG00000101400 [Q13424-1]
GeneIDi6640
KEGGihsa:6640
UCSCiuc002wzd.2 human [Q13424-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6640
DisGeNETi6640

GeneCards: human genes, protein and diseases

More...GeneCardsi		SNTA1
GeneReviewsiSNTA1
HGNCiHGNC:11167 SNTA1
HPAiCAB037059
MalaCardsiSNTA1
MIMi601017 gene
612955 phenotype
neXtProtiNX_Q13424
OpenTargetsiENSG00000101400
Orphaneti101016 Romano-Ward syndrome
PharmGKBiPA36007

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IMRM Eukaryota
ENOG410XS4Y LUCA
GeneTreeiENSGT00950000182863
HOGENOMiHOG000231596
InParanoidiQ13424
OMAiYFEVISS
OrthoDBi1261897at2759
PhylomeDBiQ13424
TreeFamiTF317932

Enzyme and pathway databases

SIGNORiQ13424

Miscellaneous databases

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

More...ChiTaRSi		SNTA1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Syntrophin,_alpha_1

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

More...GenomeRNAii		6640
PharosiQ13424

Protein Ontology

More...PROi		PR:Q13424

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000101400 Expressed in 207 organ(s), highest expression level in apex of heart
GenevisibleiQ13424 HS

Family and domain databases

CDDicd01258 PHsplit_syntrophin, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR041428 PHsplit_syntrophin
IPR028552 SNTA1
IPR015482 Syntrophin
PANTHERiPTHR10554 PTHR10554, 1 hit
PTHR10554:SF6 PTHR10554:SF6, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 1 hit
PF00169 PH, 1 hit
PF18012 PH_17, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SM00233 PH, 2 hits
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit
PS50003 PH_DOMAIN, 2 hits

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 nameiSNTA1_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: Q13424
Secondary accession number(s): A8K7H9
, B4DX40, E1P5N1, Q16438
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: November 1, 1996
Last modified: October 16, 2019
This is version 186 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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