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UniProtKB - P02549 (SPTA1_HUMAN)

Entry version 233 (12 Aug 2020)
Sequence version 5 (05 Oct 2010)
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Protein

Spectrin alpha chain, erythrocytic 1

Gene

SPTA1

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

Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.

Miscellaneous

This complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin, which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry of the plasma membrane.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi2284 – 22951PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi2327 – 23382PROSITE-ProRule annotationAdd BLAST12

<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 capping, Actin-binding
Biological processCell shape
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P02549

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-375165, NCAM signaling for neurite out-growth
R-HSA-445095, Interaction between L1 and Ankyrins
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-6807878, COPI-mediated anterograde transport

SIGNOR Signaling Network Open Resource

More...SIGNORi		P02549

<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:
Spectrin alpha chain, erythrocytic 1
Alternative name(s):
Erythroid alpha-spectrin
<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:SPTA1
Synonyms:SPTA
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000163554.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:11272, SPTA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		182860, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P02549

<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

Cytoplasm, Cytoskeleton

<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

Elliptocytosis 2 (EL2)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape.
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_00132424I → S in EL2; Lograno. 1 Publication1
Natural variantiVAR_00132828R → C in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132528R → H in EL2; Corbeil. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132628R → L in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132728R → S in EL2. 2 PublicationsCorresponds to variant dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132931V → A in EL2; Marseille. Corresponds to variant dbSNP:rs773826036Ensembl.1
Natural variantiVAR_00133034R → W in EL2; Genova. 1 PublicationCorresponds to variant dbSNP:rs201568233Ensembl.1
Natural variantiVAR_00133141R → W in EL2; Tunis. 1 PublicationCorresponds to variant dbSNP:rs121918640EnsemblClinVar.1
Natural variantiVAR_00133245R → S in EL2; Clichy. 1 PublicationCorresponds to variant dbSNP:rs121918637EnsemblClinVar.1
Natural variantiVAR_00133345R → T in EL2; Anastasia. 1 Publication1
Natural variantiVAR_00133446G → V in EL2; Culoz. 1 PublicationCorresponds to variant dbSNP:rs121918638EnsemblClinVar.1
Natural variantiVAR_00133649L → F in EL2; Lyon. 1 PublicationCorresponds to variant dbSNP:rs121918639EnsemblClinVar.1
Natural variantiVAR_001337151G → D in EL2; Ponte de Sor. Corresponds to variant dbSNP:rs199725919EnsemblClinVar.1
Natural variantiVAR_001338154L → LL in EL2. 1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar.1
Natural variantiVAR_001340260L → P in EL2; Nigerian. 1 PublicationCorresponds to variant dbSNP:rs121918634EnsemblClinVar.1
Natural variantiVAR_001341261S → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918636EnsemblClinVar.1
Natural variantiVAR_001342469H → P in EL2; Barcelona. 1 Publication1
Natural variantiVAR_001343469Missing in EL2; Alexandria. 1
Natural variantiVAR_001344471Q → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918635EnsemblClinVar.1
Natural variantiVAR_001346791D → E in EL2; Jendouba. 1 PublicationCorresponds to variant dbSNP:rs7418956EnsemblClinVar.1
Hereditary pyropoikilocytosis (HPP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00133548K → R in HPP. 1 PublicationCorresponds to variant dbSNP:rs121918644EnsemblClinVar.1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar.1
Spherocytosis 3 (SPH3)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized by severe hemolytic anemia. Inheritance is autosomal recessive.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Elliptocytosis, Hereditary hemolytic anemia, Pyropoikilocytosis

Organism-specific databases

DisGeNET

More...DisGeNETi		6708

MalaCards human disease database

More...MalaCardsi		SPTA1
MIMi130600, phenotype
266140, phenotype
270970, phenotype

Open Targets

More...OpenTargetsi		ENSG00000163554

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

More...Orphaneti		288, Hereditary elliptocytosis
822, Hereditary spherocytosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36101

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P02549, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPTA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153675

<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_00000734521 – 2419Spectrin alpha chain, erythrocytic 1Add BLAST2419

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 residuei992PhosphoserineCombined sources1
Modified residuei1976PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P02549

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P02549

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P02549

MaxQB - The MaxQuant DataBase

More...MaxQBi		P02549

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

More...PaxDbi		P02549

PeptideAtlas

More...PeptideAtlasi		P02549

PRoteomics IDEntifications database

More...PRIDEi		P02549

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51533 [P02549-1]
51534 [P02549-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		2880, 1 O-Linked glycan (3 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P02549

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

More...PhosphoSitePlusi		P02549

<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		ENSG00000163554, Expressed in trabecular bone tissue and 104 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P02549, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000163554, Tissue enriched (bone)

<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">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Composed of non-homologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers.

Interacts with FASLG.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112586, 59 interactors

Database of interacting proteins

More...DIPi		DIP-17031N

Protein interaction database and analysis system

More...IntActi		P02549, 28 interactors

Molecular INTeraction database

More...MINTi		P02549

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000357129

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P02549, protein

<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

Secondary structure

12419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P02549

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P02549

<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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati53 – 155Spectrin 1Sequence analysisAdd BLAST103
Repeati159 – 261Spectrin 2Sequence analysisAdd BLAST103
Repeati265 – 367Spectrin 3Sequence analysisAdd BLAST103
Repeati371 – 474Spectrin 4Sequence analysisAdd BLAST104
Repeati477 – 580Spectrin 5Sequence analysisAdd BLAST104
Repeati583 – 685Spectrin 6Sequence analysisAdd BLAST103
Repeati688 – 790Spectrin 7Sequence analysisAdd BLAST103
Repeati794 – 896Spectrin 8Sequence analysisAdd BLAST103
Repeati900 – 969Spectrin 9Sequence analysisAdd BLAST70
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini977 – 1036SH3PROSITE-ProRule annotationAdd BLAST60
Repeati1087 – 1179Spectrin 10Sequence analysisAdd BLAST93
Repeati1185 – 1287Spectrin 11Sequence analysisAdd BLAST103
Repeati1290 – 1392Spectrin 12Sequence analysisAdd BLAST103
Repeati1396 – 1497Spectrin 13Sequence analysisAdd BLAST102
Repeati1501 – 1605Spectrin 14Sequence analysisAdd BLAST105
Repeati1608 – 1711Spectrin 15Sequence analysisAdd BLAST104
Repeati1714 – 1817Spectrin 16Sequence analysisAdd BLAST104
Repeati1820 – 1926Spectrin 17Sequence analysisAdd BLAST107
Repeati1929 – 2033Spectrin 18Sequence analysisAdd BLAST105
Repeati2044 – 2146Spectrin 19Sequence analysisAdd BLAST103
Repeati2158 – 2258Spectrin 20Sequence analysisAdd BLAST101
Domaini2271 – 2306EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini2314 – 2349EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini2352 – 2386EF-hand 3PROSITE-ProRule annotationAdd BLAST35

<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 spectrin family.Curated

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0040, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161240

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000847_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P02549

KEGG Orthology (KO)

More...KOi		K06114

Identification of Orthologs from Complete Genome Data

More...OMAi		GFTNSYF

Database of Orthologous Groups

More...OrthoDBi		1011028at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P02549

TreeFam database of animal gene trees

More...TreeFami		TF343803

Family and domain databases

Database of protein disorder

More...DisProti		DP01700

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011992, EF-hand-dom_pair
IPR014837, EF-hand_Ca_insen
IPR002048, EF_hand_dom
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08726, EFhand_Ca_insen, 1 hit
PF00018, SH3_1, 1 hit
PF00435, Spectrin, 20 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00326, SH3, 1 hit
SM00150, SPEC, 20 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 1 hit
SSF50044, SSF50044, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50222, EF_HAND_2, 3 hits
PS50002, SH3, 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 (2)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 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. 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
Isoform 1 (identifier: P02549-1) [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
MEQFPKETVV ESSGPKVLET AEEIQERRQE VLTRYQSFKE RVAERGQKLE 
        60         70         80         90        100
DSYHLQVFKR DADDLGKWIM EKVNILTDKS YEDPTNIQGK YQKHQSLEAE 
       110        120        130        140        150
VQTKSRLMSE LEKTREERFT MGHSAHEETK AHIEELRHLW DLLLELTLEK 
       160        170        180        190        200
GDQLLRALKF QQYVQECADI LEWIGDKEAI ATSVELGEDW ERTEVLHKKF 
       210        220        230        240        250
EDFQVELVAK EGRVVEVNQY ANECAEENHP DLPLIQSKQN EVNAAWERLR 
       260        270        280        290        300
GLALQRQKAL SNAANLQRFK RDVTEAIQWI KEKEPVLTSE DYGKDLVASE 
       310        320        330        340        350
GLFHSHKGLE RNLAVMSDKV KELCAKAEKL TLSHPSDAPQ IQEMKEDLVS 
       360        370        380        390        400
SWEHIRALAT SRYEKLQATY WYHRFSSDFD ELSGWMNEKT AAINADELPT 
       410        420        430        440        450
DVAGGEVLLD RHQQHKHEID SYDDRFQSAD ETGQDLVNAN HEASDEVREK 
       460        470        480        490        500
MEILDNNWTA LLELWDERHR QYEQCLDFHL FYRDSEQVDS WMSRQEAFLE 
       510        520        530        540        550
NEDLGNSLGS AEALLQKHED FEEAFTAQEE KIITVDKTAT KLIGDDHYDS 
       560        570        580        590        600
ENIKAIRDGL LARRDALREK AATRRRLLKE SLLLQKLYED SDDLKNWINK 
       610        620        630        640        650
KKKLADDEDY KDIQNLKSRV QKQQVFEKEL AVNKTQLENI QKTGQEMIEG 
       660        670        680        690        700
GHYASDNVTT RLSEVASLWE ELLEATKQKG TQLHEANQQL QFENNAEDLQ 
       710        720        730        740        750
RWLEDVEWQV TSEDYGKGLA EVQNRLRKHG LLESAVAARQ DQVDILTDLA 
       760        770        780        790        800
AYFEEIGHPD SKDIRARQES LVCRFEALKE PLATRKKKLL DLLHLQLICR 
       810        820        830        840        850
DTEDEEAWIQ ETEPSATSTY LGKDLIASKK LLNRHRVILE NIASHEPRIQ 
       860        870        880        890        900
EITERGNKMV EEGHFAAEDV ASRVKSLNQN MESLRARAAR RQNDLEANVQ 
       910        920        930        940        950
FQQYLADLHE AETWIREKEP IVDNTNYGAD EEAAGALLKK HEAFLLDLNS 
       960        970        980        990       1000
FGDSMKALRN QANACQQQQA APVEGVAGEQ RVMALYDFQA RSPREVTMKK 
      1010       1020       1030       1040       1050
GDVLTLLSSI NKDWWKVEAA DHQGIVPAVY VRRLAHDEFP MLPQRRREEP 
      1060       1070       1080       1090       1100
GNITQRQEQI ENQYRSLLDR AEERRRRLLQ RYNEFLLAYE AGDMLEWIQE 
      1110       1120       1130       1140       1150
KKAENTGVEL DDVWELQKKF DEFQKDLNTN EPRLRDINKV ADDLLFEGLL 
      1160       1170       1180       1190       1200
TPEGAQIRQE LNSRWGSLQR LADEQRQLLG SAHAVEVFHR EADDTKEQIE 
      1210       1220       1230       1240       1250
KKCQALSAAD PGSDLFSVQA LQRRHEGFER DLVPLGDKVT ILGETAERLS 
      1260       1270       1280       1290       1300
ESHPDATEDL QRQKMELNEA WEDLQGRTKD RKESLNEAQK FYLFLSKARD 
      1310       1320       1330       1340       1350
LQNWISSIGG MVSSQELAED LTGIEILLER HQEHRADMEA EAPTFQALED 
      1360       1370       1380       1390       1400
FSAELIDSGH HASPEIEKKL QAVKLERDDL EKAWEKRKKI LDQCLELQMF 
      1410       1420       1430       1440       1450
QGNCDQVESW MVARENSLRS DDKSSLDSLE ALMKKRDDLD KAITAQEGKI 
      1460       1470       1480       1490       1500
TDLEHFAESL IADEHYAKEE IATRLQRVLD RWKALKAQLI DERTKLGDYA 
      1510       1520       1530       1540       1550
NLKQFYRDLE ELEEWISEML PTACDESYKD ATNIQRKYLK HQTFAHEVDG 
      1560       1570       1580       1590       1600
RSEQVHGVIN LGNSLIECSA CDGNEEAMKE QLEQLKEHWD HLLERTNDKG 
      1610       1620       1630       1640       1650
KKLNEASRQQ RFNTSIRDFE FWLSEAETLL AMKDQARDLA SAGNLLKKHQ 
      1660       1670       1680       1690       1700
LLEREMLARE DALKDLNTLA EDLLSSGTFN VDQIVKKKDN VNKRFLNVQE 
      1710       1720       1730       1740       1750
LAAAHHEKLK EAYALFQFFQ DLDDEESWIE EKLIRVSSQD YGRDLQGVQN 
      1760       1770       1780       1790       1800
LLKKHKRLEG ELVAHEPAIQ NVLDMAEKLK DKAAVGQEEI QLRLAQFVEH 
      1810       1820       1830       1840       1850
WEKLKELAKA RGLKLEESLE YLQFMQNAEE EEAWINEKNA LAVRGDCGDT 
      1860       1870       1880       1890       1900
LAATQSLLMK HEALENDFAV HETRVQNVCA QGEDILNKVL QEESQNKEIS 
      1910       1920       1930       1940       1950
SKIEALNEKT PSLAKAIAAW KLQLEDDYAF QEFNWKADVV EAWIADKETS 
      1960       1970       1980       1990       2000
LKTNGNGADL GDFLTLLAKQ DTLDASLQSF QQERLPEITD LKDKLISAQH 
      2010       2020       2030       2040       2050
NQSKAIEERY AALLKRWEQL LEASAVHRQK LLEKQLPLQK AEDLFVEFAH 
      2060       2070       2080       2090       2100
KASALNNWCE KMEENLSEPV HCVSLNEIRQ LQKDHEDFLA SLARAQADFK 
      2110       2120       2130       2140       2150
CLLELDQQIK ALGVPSSPYT WLTVEVLERT WKHLSDIIEE REQELQKEEA 
      2160       2170       2180       2190       2200
RQVKNFEMCQ EFEQNASTFL QWILETRAYF LDGSLLKETG TLESQLEANK 
      2210       2220       2230       2240       2250
RKQKEIQAMK RQLTKIVDLG DNLEDALILD IKYSTIGLAQ QWDQLYQLGL 
      2260       2270       2280       2290       2300
RMQHNLEQQI QAKDIKGVSE ETLKEFSTIY KHFDENLTGR LTHKEFRSCL 
      2310       2320       2330       2340       2350
RGLNYYLPMV EEDEHEPKFE KFLDAVDPGR KGYVSLEDYT AFLIDKESEN 
      2360       2370       2380       2390       2400
IKSSDEIENA FQALAEGKSY ITKEDMKQAL TPEQVSFCAT HMQQYMDPRG 
      2410 
RSHLSGYDYV GFTNSYFGN
Length:2,419
Mass (Da):280,014
Last modified:October 5, 2010 - v5
<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:iB60680145C58DF55
GO
Isoform 2 (identifier: P02549-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1889-1891: Missing.

Show »
Length:2,416
Mass (Da):279,674
Checksum:iC3824332610EF99C
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 conflicti119 – 130Missing in AAA60575 (PubMed:2794061).CuratedAdd BLAST12
Sequence conflicti395A → G in AAA60575 (PubMed:2794061).Curated1
Sequence conflicti1410W → R in AAA60577 (PubMed:1689726).Curated1
Sequence conflicti1410W → R in AAA60994 (PubMed:1689726).Curated1
Sequence conflicti1570Missing in AAA60577 (PubMed:1689726).Curated1
Sequence conflicti1570Missing in AAA60994 (PubMed:1689726).Curated1
Sequence conflicti1570Missing in AAA60569 (PubMed:3000887).Curated1
Sequence conflicti1891Q → H in AAA60577 (PubMed:1689726).Curated1
Sequence conflicti1891Q → H in AAA60994 (PubMed:1689726).Curated1
Sequence conflicti2400 – 2419GRSHL…SYFGN → VEAISLAMTTLASPIPTLAT NKQLLVDRRKS in AAA60577 (PubMed:1689726).CuratedAdd BLAST20
Sequence conflicti2400 – 2419GRSHL…SYFGN → VEAISLAMTTLASPIPTLAT NKQLLVDRRKS in AAA60994 (PubMed:1689726).CuratedAdd BLAST20

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00132424I → S in EL2; Lograno. 1 Publication1
Natural variantiVAR_00132828R → C in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132528R → H in EL2; Corbeil. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132628R → L in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918641EnsemblClinVar.1
Natural variantiVAR_00132728R → S in EL2. 2 PublicationsCorresponds to variant dbSNP:rs121918642EnsemblClinVar.1
Natural variantiVAR_00132931V → A in EL2; Marseille. Corresponds to variant dbSNP:rs773826036Ensembl.1
Natural variantiVAR_00133034R → W in EL2; Genova. 1 PublicationCorresponds to variant dbSNP:rs201568233Ensembl.1
Natural variantiVAR_00133141R → W in EL2; Tunis. 1 PublicationCorresponds to variant dbSNP:rs121918640EnsemblClinVar.1
Natural variantiVAR_00133245R → S in EL2; Clichy. 1 PublicationCorresponds to variant dbSNP:rs121918637EnsemblClinVar.1
Natural variantiVAR_00133345R → T in EL2; Anastasia. 1 Publication1
Natural variantiVAR_00133446G → V in EL2; Culoz. 1 PublicationCorresponds to variant dbSNP:rs121918638EnsemblClinVar.1
Natural variantiVAR_00133548K → R in HPP. 1 PublicationCorresponds to variant dbSNP:rs121918644EnsemblClinVar.1
Natural variantiVAR_00133649L → F in EL2; Lyon. 1 PublicationCorresponds to variant dbSNP:rs121918639EnsemblClinVar.1
Natural variantiVAR_038506109S → F. Corresponds to variant dbSNP:rs3737521Ensembl.1
Natural variantiVAR_001337151G → D in EL2; Ponte de Sor. Corresponds to variant dbSNP:rs199725919EnsemblClinVar.1
Natural variantiVAR_038507152D → N. Corresponds to variant dbSNP:rs16840544EnsemblClinVar.1
Natural variantiVAR_001338154L → LL in EL2. 1
Natural variantiVAR_001339207L → P in EL2 and HPP; Saint-Louis. 1 PublicationCorresponds to variant dbSNP:rs121918643EnsemblClinVar.1
Natural variantiVAR_001340260L → P in EL2; Nigerian. 1 PublicationCorresponds to variant dbSNP:rs121918634EnsemblClinVar.1
Natural variantiVAR_001341261S → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918636EnsemblClinVar.1
Natural variantiVAR_001342469H → P in EL2; Barcelona. 1 Publication1
Natural variantiVAR_001343469Missing in EL2; Alexandria. 1
Natural variantiVAR_001344471Q → P in EL2. 1 PublicationCorresponds to variant dbSNP:rs121918635EnsemblClinVar.1
Natural variantiVAR_001345701R → H. Corresponds to variant dbSNP:rs12090314EnsemblClinVar.1
Natural variantiVAR_038508766A → T. Corresponds to variant dbSNP:rs11265047Ensembl.1
Natural variantiVAR_001346791D → E in EL2; Jendouba. 1 PublicationCorresponds to variant dbSNP:rs7418956EnsemblClinVar.1
Natural variantiVAR_001347809I → V. Corresponds to variant dbSNP:rs7547313EnsemblClinVar.1
Natural variantiVAR_001348853T → R. Corresponds to variant dbSNP:rs35121052EnsemblClinVar.1
Natural variantiVAR_038509957A → V. Corresponds to variant dbSNP:rs34706737EnsemblClinVar.1
Natural variantiVAR_001349970A → D. Corresponds to variant dbSNP:rs35948326EnsemblClinVar.1
Natural variantiVAR_0385101163S → A1 PublicationCorresponds to variant dbSNP:rs2482965EnsemblClinVar.1
Natural variantiVAR_0385111330R → I. Corresponds to variant dbSNP:rs34214405EnsemblClinVar.1
Natural variantiVAR_0385121568C → R2 PublicationsCorresponds to variant dbSNP:rs863931EnsemblClinVar.1
Natural variantiVAR_0591991693K → Q. Corresponds to variant dbSNP:rs857725EnsemblClinVar.1
Natural variantiVAR_0592001836N → S. Corresponds to variant dbSNP:rs16830483EnsemblClinVar.1
Natural variantiVAR_0013501858L → V1 PublicationCorresponds to variant dbSNP:rs3737515EnsemblClinVar.1
Natural variantiVAR_0013512025A → G in Cagliari. 1 Publication1
Natural variantiVAR_0592012265I → T. Corresponds to variant dbSNP:rs952094EnsemblClinVar.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_0376621889 – 1891Missing in isoform 2. Curated3

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
M61826 M61825 Genomic DNA Translation: AAA60994.1
M61877 mRNA Translation: AAA60577.1
AL353894 Genomic DNA No translation available.
M29994 M29993 Genomic DNA Translation: AAA60575.1
M13233 Genomic DNA Translation: AAA53103.1
M11049 mRNA Translation: AAA60569.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41423.1 [P02549-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A35716, SJHUA

NCBI Reference Sequences

More...RefSeqi		NP_003117.2, NM_003126.2 [P02549-1]
XP_011508218.1, XM_011509916.2 [P02549-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000643759; ENSP00000495214; ENSG00000163554 [P02549-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6708

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6708

UCSC genome browser

More...UCSCi		uc001fst.2, human [P02549-1]

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
M61826 M61825 Genomic DNA Translation: AAA60994.1
M61877 mRNA Translation: AAA60577.1
AL353894 Genomic DNA No translation available.
M29994 M29993 Genomic DNA Translation: AAA60575.1
M13233 Genomic DNA Translation: AAA53103.1
M11049 mRNA Translation: AAA60569.1
CCDSiCCDS41423.1 [P02549-1]
PIRiA35716, SJHUA
RefSeqiNP_003117.2, NM_003126.2 [P02549-1]
XP_011508218.1, XM_011509916.2 [P02549-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OWANMR-A1-156[»]
3LBXX-ray2.80A1-158[»]
5J4OX-ray1.54A1599-1826[»]
SMRiP02549
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112586, 59 interactors
DIPiDIP-17031N
IntActiP02549, 28 interactors
MINTiP02549
STRINGi9606.ENSP00000357129

PTM databases

GlyConnecti2880, 1 O-Linked glycan (3 sites)
iPTMnetiP02549
PhosphoSitePlusiP02549

Polymorphism and mutation databases

BioMutaiSPTA1
DMDMi308153675

Proteomic databases

EPDiP02549
jPOSTiP02549
MassIVEiP02549
MaxQBiP02549
PaxDbiP02549
PeptideAtlasiP02549
PRIDEiP02549
ProteomicsDBi51533 [P02549-1]
51534 [P02549-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10818, 160 antibodies

The DNASU plasmid repository

More...DNASUi		6708

Genome annotation databases

EnsembliENST00000643759; ENSP00000495214; ENSG00000163554 [P02549-1]
GeneIDi6708
KEGGihsa:6708
UCSCiuc001fst.2, human [P02549-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6708
DisGeNETi6708
EuPathDBiHostDB:ENSG00000163554.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPTA1
HGNCiHGNC:11272, SPTA1
HPAiENSG00000163554, Tissue enriched (bone)
MalaCardsiSPTA1
MIMi130600, phenotype
182860, gene
266140, phenotype
270970, phenotype
neXtProtiNX_P02549
OpenTargetsiENSG00000163554
Orphaneti288, Hereditary elliptocytosis
822, Hereditary spherocytosis
PharmGKBiPA36101

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0040, Eukaryota
GeneTreeiENSGT00940000161240
HOGENOMiCLU_000847_0_0_1
InParanoidiP02549
KOiK06114
OMAiGFTNSYF
OrthoDBi1011028at2759
PhylomeDBiP02549
TreeFamiTF343803

Enzyme and pathway databases

PathwayCommonsiP02549
ReactomeiR-HSA-375165, NCAM signaling for neurite out-growth
R-HSA-445095, Interaction between L1 and Ankyrins
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-6807878, COPI-mediated anterograde transport
SIGNORiP02549

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6708, 1 hit in 870 CRISPR screens

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

More...ChiTaRSi		SPTA1, human
EvolutionaryTraceiP02549

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Spectrin,_alpha_1

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

More...GenomeRNAii		6708
PharosiP02549, Tbio

Protein Ontology

More...PROi		PR:P02549
RNActiP02549, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163554, Expressed in trabecular bone tissue and 104 other tissues
GenevisibleiP02549, HS

Family and domain databases

DisProtiDP01700
InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR014837, EF-hand_Ca_insen
IPR002048, EF_hand_dom
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat
PfamiView protein in Pfam
PF08726, EFhand_Ca_insen, 1 hit
PF00018, SH3_1, 1 hit
PF00435, Spectrin, 20 hits
SMARTiView protein in SMART
SM00326, SH3, 1 hit
SM00150, SPEC, 20 hits
SUPFAMiSSF47473, SSF47473, 1 hit
SSF50044, SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50222, EF_HAND_2, 3 hits
PS50002, SH3, 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 nameiSPTA1_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: P02549
Secondary accession number(s): Q15514
, Q5VYL1, Q5VYL2, Q6LDY5
<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: July 21, 1986
Last sequence update: October 5, 2010
Last modified: August 12, 2020
This is version 233 of the entry and version 5 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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