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UniProtKB - P11277 (SPTB1_HUMAN)

Protein

Spectrin beta chain, erythrocytic

Gene

SPTB

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.

<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

  • actin binding Source: ProtInc
  • actin filament binding Source: UniProtKB
  • ankyrin binding Source: BHF-UCL
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • structural constituent of cytoskeleton Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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

Enzyme and pathway databases

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

<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:
Spectrin beta chain, erythrocytic
Alternative name(s):
Beta-I spectrin
<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:SPTB
Synonyms:SPTB1
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000070182.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:11274 SPTB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		182870 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P11277

<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; 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 3 (EL3)4 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 hematologic disorder characterized by variable hemolytic anemia and elliptical or oval red cell shape. Inheritance can be autosomal dominant or autosomal recessive.
See also OMIM:617948
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_0013572018A → G in EL3; Cagliary. 1 PublicationCorresponds to variant dbSNP:rs121918647EnsemblClinVar.1
Natural variantiVAR_0013582019S → P in EL3; Providence. 1 PublicationCorresponds to variant dbSNP:rs121918648EnsemblClinVar.1
Natural variantiVAR_0013592023A → V in EL3; Paris. 1 PublicationCorresponds to variant dbSNP:rs367841692Ensembl.1
Natural variantiVAR_0013602024W → R in EL3; Linguere. 1 PublicationCorresponds to variant dbSNP:rs1225539653Ensembl.1
Natural variantiVAR_0013612025L → R in EL3; Buffalo. Corresponds to variant dbSNP:rs121918649EnsemblClinVar.1
Natural variantiVAR_0013622053A → P in EL3; Kayes. 1 PublicationCorresponds to variant dbSNP:rs121918645EnsemblClinVar.1
Spherocytosis 2 (SPH2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity.
See also OMIM:616649
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001352202W → R in SPH2; spectrin Kissimmee. 1 PublicationCorresponds to variant dbSNP:rs121918646EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Elliptocytosis, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

More...DisGeNETi		6710

MalaCards human disease database

More...MalaCardsi		SPTB
MIMi616649 phenotype
617948 phenotype

Open Targets

More...OpenTargetsi		ENSG00000070182

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		PA36103

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPTB

Domain mapping of disease mutations (DMDM)

More...DMDMi		215274269

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000734592 – 2137Spectrin beta chain, erythrocyticAdd BLAST2136

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 residuei36PhosphoserineBy similarity1
Modified residuei104PhosphothreonineCombined sources1
Modified residuei1297PhosphoserineBy similarity1
Modified residuei2043PhosphoserineCombined sources1
Modified residuei2073PhosphothreonineCombined sources1
Modified residuei2110Phosphothreonine1 Publication1
Modified residuei2114Phosphoserine1 Publication1
Modified residuei2117Phosphoserine1 Publication1
Modified residuei2123PhosphoserineCombined sources1 Publication1
Modified residuei2125PhosphoserineCombined sources1 Publication1
Modified residuei2128Phosphoserine1 Publication1

<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

The first phosphorylation event occurs on Ser-2114, followed by Ser-2125, Ser-2123, Ser-2128, Ser-2117, and Thr-2110.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P11277

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P11277

MaxQB - The MaxQuant DataBase

More...MaxQBi		P11277

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

More...PaxDbi		P11277

PeptideAtlas

More...PeptideAtlasi		P11277

PRoteomics IDEntifications database

More...PRIDEi		P11277

ProteomicsDB human proteome resource

More...ProteomicsDBi		52731
52732 [P11277-2]
52733 [P11277-3]

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P11277

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P11277

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P11277

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

More...PhosphoSitePlusi		P11277

<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		ENSG00000070182 Expressed in 165 organ(s), highest expression level in gastrocnemius

CleanEx database of gene expression profiles

More...CleanExi		HS_SPTB

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P11277 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P11277 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB015169
CAB016232
HPA003394
HPA003398

<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

Composed of nonhomologous chains, alpha and beta, which aggregate to form dimers, tetramers, and higher polymers.

<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

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112588, 27 interactors

Database of interacting proteins

More...DIPi		DIP-1021N

Protein interaction database and analysis system

More...IntActi		P11277, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000374372

<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

12137
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
1S35X-ray2.40A1063-1275[»]
3EDUX-ray2.10A1692-1907[»]
3F57X-ray2.90A/B1686-1907[»]
3KBTX-ray2.75A/B1583-1906[»]
3KBUX-ray2.75A/B1583-1906[»]
3LBXX-ray2.80B1902-2084[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P11277

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

More...SMRi		P11277

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P11277

<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>Domaini54 – 158Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini173 – 278Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST106
<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>Repeati303 – 411Spectrin 1Sequence analysisAdd BLAST109
Repeati423 – 525Spectrin 2Sequence analysisAdd BLAST103
Repeati529 – 635Spectrin 3Sequence analysisAdd BLAST107
Repeati638 – 741Spectrin 4Sequence analysisAdd BLAST104
Repeati744 – 846Spectrin 5Sequence analysisAdd BLAST103
Repeati851 – 950Spectrin 6Sequence analysisAdd BLAST100
Repeati956 – 1058Spectrin 7Sequence analysisAdd BLAST103
Repeati1062 – 1165Spectrin 8Sequence analysisAdd BLAST104
Repeati1170 – 1257Spectrin 9Sequence analysisAdd BLAST88
Repeati1275 – 1375Spectrin 10Sequence analysisAdd BLAST101
Repeati1389 – 1465Spectrin 11Sequence analysisAdd BLAST77
Repeati1481 – 1582Spectrin 12Sequence analysisAdd BLAST102
Repeati1585 – 1688Spectrin 13Sequence analysisAdd BLAST104
Repeati1690 – 1793Spectrin 14Sequence analysisAdd BLAST104
Repeati1797 – 1899Spectrin 15Sequence analysisAdd BLAST103
Repeati1906 – 2006Spectrin 16Sequence analysisAdd BLAST101
Repeati2013 – 2075Spectrin 17Sequence analysisAdd BLAST63

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>Regioni2 – 275Actin-bindingAdd BLAST274

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0517 Eukaryota
COG5069 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158908

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000007281

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG057912

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P11277

KEGG Orthology (KO)

More...KOi		K06115

Identification of Orthologs from Complete Genome Data

More...OMAi		HRMHAAF

Database of Orthologous Groups

More...OrthoDBi		1263362at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P11277

TreeFam database of animal gene trees

More...TreeFami		TF313446

Family and domain databases

Conserved Domains Database

More...CDDi		cd00014 CH, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.418.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR018159 Spectrin/alpha-actinin
IPR016343 Spectrin_bsu
IPR002017 Spectrin_repeat

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00307 CH, 2 hits
PF00435 Spectrin, 17 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF002297 Spectrin_beta_subunit, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00033 CH, 2 hits
SM00150 SPEC, 17 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 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>.<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_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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P11277-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MTSATEFENV GNQPPYSRIN ARWDAPDDEL DNDNSSARLF ERSRIKALAD 
        60         70         80         90        100
EREVVQKKTF TKWVNSHLAR VSCRITDLYK DLRDGRMLIK LLEVLSGEML 
       110        120        130        140        150
PKPTKGKMRI HCLENVDKAL QFLKEQRVHL ENMGSHDIVD GNHRLVLGLI 
       160        170        180        190        200
WTIILRFQIQ DIVVQTQEGR ETRSAKDALL LWCQMKTAGY PHVNVTNFTS 
       210        220        230        240        250
SWKDGLAFNA LIHKHRPDLI DFDKLKDSNA RHNLEHAFNV AERQLGIIPL 
       260        270        280        290        300
LDPEDVFTEN PDEKSIITYV VAFYHYFSKM KVLAVEGKRV GKVIDHAIET 
       310        320        330        340        350
EKMIEKYSGL ASDLLTWIEQ TITVLNSRKF ANSLTGVQQQ LQAFSTYRTV 
       360        370        380        390        400
EKPPKFQEKG NLEVLLFTIQ SRMRANNQKV YTPHDGKLVS DINRAWESLE 
       410        420        430        440        450
EAEYRRELAL RNELIRQEKL EQLARRFDRK AAMRETWLSE NQRLVAQDNF 
       460        470        480        490        500
GYDLAAVEAA KKKHEAIETD TAAYEERVRA LEDLAQELEK ENYHDQKRIT 
       510        520        530        540        550
ARKDNILRLW SYLQELLQSR RQRLETTLAL QKLFQDMLHS IDWMDEIKAH 
       560        570        580        590        600
LLSAEFGKHL LEVEDLLQKH KLMEADIAIQ GDKVKAITAA TLKFTEGKGY 
       610        620        630        640        650
QPCDPQVIQD RISHLEQCFE ELSNMAAGRK AQLEQSKRLW KFFWEMDEAE 
       660        670        680        690        700
SWIKEKEQIY SSLDYGKDLT SVLILQRKHK AFEDELRGLD AHLEQIFQEA 
       710        720        730        740        750
HGMVARKQFG HPQIEARIKE VSAQWDQLKD LAAFCKKNLQ DAENFFQFQG 
       760        770        780        790        800
DADDLKAWLQ DAHRLLSGED VGQDEGATRA LGKKHKDFLE ELEESRGVME 
       810        820        830        840        850
HLEQQAQGFP EEFRDSPDVT HRLQALRELY QQVVAQADLR QQRLQEALDL 
       860        870        880        890        900
YTVFGETDAC ELWMGEKEKW LAEMEMPDTL EDLEVVQHRF DILDQEMKTL 
       910        920        930        940        950
MTQIDGVNLA ANSLVESGHP RSREVKQYQD HLNTRWQAFQ TLVSERREAV 
       960        970        980        990       1000
DSALRVHNYC VDCEETSKWI TDKTKVVEST KDLGRDLAGI IAIQRKLSGL 
      1010       1020       1030       1040       1050
ERDVAAIQAR VDALERESQQ LMDSHPEQKE DIGQRQKHLE ELWQGLQQSL 
      1060       1070       1080       1090       1100
QGQEDLLGEV SQLQAFLQDL DDFQAWLSIT QKAVASEDMP ESLPEAEQLL 
      1110       1120       1130       1140       1150
QQHAGIKDEI DGHQDSYQRV KESGEKVIQG QTDPEYLLLG QRLEGLDTGW 
      1160       1170       1180       1190       1200
NALGRMWESR SHTLAQCLGF QEFQKDAKQA EAILSNQEYT LAHLEPPDSL 
      1210       1220       1230       1240       1250
EAAEAGIRKF EDFLGSMENN RDKVLSPVDS GNKLVAEGNL YSDKIKEKVQ 
      1260       1270       1280       1290       1300
LIEDRHRKNN EKAQEASVLL RDNLELQNFL QNCQELTLWI NDKLLTSQDV 
      1310       1320       1330       1340       1350
SYDEARNLHN KWLKHQAFVA ELASHEGWLE NIDAEGKQLM DEKPQFTALV 
      1360       1370       1380       1390       1400
SQKLEALHRL WDELQATTKE KTQHLSAARS SDLRLQTHAD LNKWISAMED 
      1410       1420       1430       1440       1450
QLRSDDPGKD LTSVNRMLAK LKRVEDQVNV RKEELGELFA QVPSMGEEGG 
      1460       1470       1480       1490       1500
DADLSIEKRF LDLLEPLGRR KKQLESSRAK LQISRDLEDE TLWVEERLPL 
      1510       1520       1530       1540       1550
AQSADYGTNL QTVQLFMKKN QTLQNEILGH TPRVEDVLQR GQQLVEAAEI 
      1560       1570       1580       1590       1600
DCQDLEERLG HLQSSWDRLR EAAAGRLQRL RDANEAQQYY LDADEAEAWI 
      1610       1620       1630       1640       1650
GEQELYVISD EIPKDEEGAI VMLKRHLRQQ RAVEDYGRNI KQLASRAQGL 
      1660       1670       1680       1690       1700
LSAGHPEGEQ IIRLQGQVDK HYAGLKDVAE ERKRKLENMY HLFQLKRETD 
      1710       1720       1730       1740       1750
DLEQWISEKE LVASSPEMGQ DFDHVTLLRD KFRDFARETG AIGQERVDNV 
      1760       1770       1780       1790       1800
NAFIERLIDA GHSEAATIAE WKDGLNEMWA DLLELIDTRM QLLAASYDLH 
      1810       1820       1830       1840       1850
RYFYTGAEIL GLIDEKHREL PEDVGLDAST AESFHRVHTA FERELHLLGV 
      1860       1870       1880       1890       1900
QVQQFQDVAT RLQTAYAGEK AEAIQNKEQE VSAAWQALLD ACAGRRTQLV 
      1910       1920       1930       1940       1950
DTADKFRFFS MARDLLSWME SIIRQIETQE RPRDVSSVEL LMKYHQGINA 
      1960       1970       1980       1990       2000
EIETRSKNFS ACLELGESLL QRQHQASEEI REKLQQVMSR RKEMNEKWEA 
      2010       2020       2030       2040       2050
RWERLRMLLE VCQFSRDASV AEAWLIAQEP YLASGDFGHT VDSVEKLIKR 
      2060       2070       2080       2090       2100
HEAFEKSTAS WAERFAALEK PTTLELKERQ IAERPAEETG PQEEEGETAG 
      2110       2120       2130 
EAPVSHHAAT ERTSPVSLWS RLSSSWESLQ PEPSHPY
Length:2,137
Mass (Da):246,468
Last modified:November 25, 2008 - 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:i311AE5CD53237610
GO
Isoform 2 (identifier: P11277-2) [UniParc]FASTAAdd to basket
Also known as: Muscle-specific

The sequence of this isoform differs from the canonical sequence as follows:
     2116-2137: VSLWSRLSSSWESLQPEPSHPY → GEEEGTWPQN...KRFSFFPKKK

Show »
Length:2,328
Mass (Da):267,826
Checksum:i5C3709E99F70B8D0
GO
Isoform 3 (identifier: P11277-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2074-2137: LELKERQIAE...SLQPEPSHPY → ASRGGRRDSRGGSSFPPCGHRENVPGQSLVSFV

Note: Due to exon skipping.
Show »
Length:2,106
Mass (Da):242,802
Checksum:iE48305033176AE98
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJE6H0YJE6_HUMAN
Spectrin beta chain, erythrocytic
SPTB
1,028Annotation 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>

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 conflicti403E → G in AAA60578 (PubMed:2195026).Curated1
Sequence conflicti403E → G in AAA60579 (PubMed:2195026).Curated1
Sequence conflicti612I → M in AAA60578 (PubMed:2195026).Curated1
Sequence conflicti612I → M in AAA60579 (PubMed:2195026).Curated1
Sequence conflicti629 – 631RKA → ART in AAA60578 (PubMed:2195026).Curated3
Sequence conflicti629 – 631RKA → ART in AAA60579 (PubMed:2195026).Curated3
Sequence conflicti958 – 959NY → TL in AAA60578 (PubMed:2195026).Curated2
Sequence conflicti958 – 959NY → TL in AAA60579 (PubMed:2195026).Curated2
Sequence conflicti1031D → N in AAA60578 (PubMed:2195026).Curated1
Sequence conflicti1031D → N in AAA60579 (PubMed:2195026).Curated1
Sequence conflicti1844 – 1845EL → DV in AAA60578 (PubMed:2195026).Curated2
Sequence conflicti1844 – 1845EL → DV in AAA60579 (PubMed:2195026).Curated2
Sequence conflicti1844 – 1845EL → DV in AAA63259 (PubMed:2056132).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001352202W → R in SPH2; spectrin Kissimmee. 1 PublicationCorresponds to variant dbSNP:rs121918646EnsemblClinVar.1
Natural variantiVAR_001353439S → N1 PublicationCorresponds to variant dbSNP:rs229587EnsemblClinVar.1
Natural variantiVAR_061084525E → K. Corresponds to variant dbSNP:rs55752508Ensembl.1
Natural variantiVAR_038514613S → I. Corresponds to variant dbSNP:rs3742601EnsemblClinVar.1
Natural variantiVAR_0013541151N → D3 PublicationsCorresponds to variant dbSNP:rs77806EnsemblClinVar.1
Natural variantiVAR_0013551374H → R1 PublicationCorresponds to variant dbSNP:rs10132778EnsemblClinVar.1
Natural variantiVAR_0013561403R → Q. Corresponds to variant dbSNP:rs17180350EnsemblClinVar.1
Natural variantiVAR_0385151408G → R. Corresponds to variant dbSNP:rs17245552EnsemblClinVar.1
Natural variantiVAR_0013572018A → G in EL3; Cagliary. 1 PublicationCorresponds to variant dbSNP:rs121918647EnsemblClinVar.1
Natural variantiVAR_0013582019S → P in EL3; Providence. 1 PublicationCorresponds to variant dbSNP:rs121918648EnsemblClinVar.1
Natural variantiVAR_0013592023A → V in EL3; Paris. 1 PublicationCorresponds to variant dbSNP:rs367841692Ensembl.1
Natural variantiVAR_0013602024W → R in EL3; Linguere. 1 PublicationCorresponds to variant dbSNP:rs1225539653Ensembl.1
Natural variantiVAR_0013612025L → R in EL3; Buffalo. Corresponds to variant dbSNP:rs121918649EnsemblClinVar.1
Natural variantiVAR_0013622053A → P in EL3; Kayes. 1 PublicationCorresponds to variant dbSNP:rs121918645EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0072422074 – 2137LELKE…PSHPY → ASRGGRRDSRGGSSFPPCGH RENVPGQSLVSFV in isoform 3. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_0007192116 – 2137VSLWS…PSHPY → GEEEGTWPQNLQQPPPPGQH KDGQKSTGDERPTTEPLFKV LDTPLSEGDEPATLPAPRDH GQSVQMEGYLGRKHDLEGPN KKASNRSWNNLYCVLRNSEL TFYKDAKNLALGMPYHGEEP LALRHAICEIAANYKKKKHV FKLRLSNGSEWLFHGKDEEE MLSWLQGVSTAINESQSIRV KAQSLPLPSLSGPDASLGKK DKEKRFSFFPKKK in isoform 2. 1 PublicationAdd BLAST22

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
J05500 mRNA Translation: AAA60578.1
J05500 mRNA Translation: AAA60579.1
AL121774 Genomic DNA No translation available.
M37884 mRNA Translation: AAA63259.1
M37885 mRNA Translation: AAA60571.1
M57948 mRNA No translation available.
X59510 mRNA Translation: CAA42097.1
X59511 mRNA Translation: CAA42098.1
M18054 mRNA Translation: AAA60572.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32099.1 [P11277-2]
CCDS32100.1 [P11277-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A37064 SJHUB

NCBI Reference Sequences

More...RefSeqi		NP_000338.3, NM_000347.5
NP_001020029.1, NM_001024858.2 [P11277-2]
XP_005268080.1, XM_005268023.4
XP_016877101.1, XM_017021612.1 [P11277-2]
XP_016877103.1, XM_017021614.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.417303

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000389720; ENSP00000374370; ENSG00000070182 [P11277-1]
ENST00000389721; ENSP00000374371; ENSG00000070182 [P11277-1]
ENST00000389722; ENSP00000374372; ENSG00000070182 [P11277-2]
ENST00000556626; ENSP00000451752; ENSG00000070182 [P11277-2]
ENST00000644917; ENSP00000495909; ENSG00000070182 [P11277-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6710

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6710

UCSC genome browser

More...UCSCi		uc001xhr.4 human [P11277-1]

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
J05500 mRNA Translation: AAA60578.1
J05500 mRNA Translation: AAA60579.1
AL121774 Genomic DNA No translation available.
M37884 mRNA Translation: AAA63259.1
M37885 mRNA Translation: AAA60571.1
M57948 mRNA No translation available.
X59510 mRNA Translation: CAA42097.1
X59511 mRNA Translation: CAA42098.1
M18054 mRNA Translation: AAA60572.1
CCDSiCCDS32099.1 [P11277-2]
CCDS32100.1 [P11277-1]
PIRiA37064 SJHUB
RefSeqiNP_000338.3, NM_000347.5
NP_001020029.1, NM_001024858.2 [P11277-2]
XP_005268080.1, XM_005268023.4
XP_016877101.1, XM_017021612.1 [P11277-2]
XP_016877103.1, XM_017021614.1
UniGeneiHs.417303

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S35X-ray2.40A1063-1275[»]
3EDUX-ray2.10A1692-1907[»]
3F57X-ray2.90A/B1686-1907[»]
3KBTX-ray2.75A/B1583-1906[»]
3KBUX-ray2.75A/B1583-1906[»]
3LBXX-ray2.80B1902-2084[»]
ProteinModelPortaliP11277
SMRiP11277
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112588, 27 interactors
DIPiDIP-1021N
IntActiP11277, 10 interactors
STRINGi9606.ENSP00000374372

PTM databases

CarbonylDBiP11277
iPTMnetiP11277
PhosphoSitePlusiP11277

Polymorphism and mutation databases

BioMutaiSPTB
DMDMi215274269

2D gel databases

SWISS-2DPAGEiP11277

Proteomic databases

EPDiP11277
jPOSTiP11277
MaxQBiP11277
PaxDbiP11277
PeptideAtlasiP11277
PRIDEiP11277
ProteomicsDBi52731
52732 [P11277-2]
52733 [P11277-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389720; ENSP00000374370; ENSG00000070182 [P11277-1]
ENST00000389721; ENSP00000374371; ENSG00000070182 [P11277-1]
ENST00000389722; ENSP00000374372; ENSG00000070182 [P11277-2]
ENST00000556626; ENSP00000451752; ENSG00000070182 [P11277-2]
ENST00000644917; ENSP00000495909; ENSG00000070182 [P11277-2]
GeneIDi6710
KEGGihsa:6710
UCSCiuc001xhr.4 human [P11277-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6710
DisGeNETi6710
EuPathDBiHostDB:ENSG00000070182.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPTB
HGNCiHGNC:11274 SPTB
HPAiCAB015169
CAB016232
HPA003394
HPA003398
MalaCardsiSPTB
MIMi182870 gene
616649 phenotype
617948 phenotype
neXtProtiNX_P11277
OpenTargetsiENSG00000070182
Orphaneti288 Hereditary elliptocytosis
822 Hereditary spherocytosis
PharmGKBiPA36103

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0517 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000158908
HOGENOMiHOG000007281
HOVERGENiHBG057912
InParanoidiP11277
KOiK06115
OMAiHRMHAAF
OrthoDBi1263362at2759
PhylomeDBiP11277
TreeFamiTF313446

Enzyme and pathway databases

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

Miscellaneous databases

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

More...ChiTaRSi		SPTB human
EvolutionaryTraceiP11277

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SPTB

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

More...GenomeRNAii		6710

Protein Ontology

More...PROi		PR:P11277

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000070182 Expressed in 165 organ(s), highest expression level in gastrocnemius
CleanExiHS_SPTB
ExpressionAtlasiP11277 baseline and differential
GenevisibleiP11277 HS

Family and domain databases

CDDicd00014 CH, 2 hits
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR018159 Spectrin/alpha-actinin
IPR016343 Spectrin_bsu
IPR002017 Spectrin_repeat
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF00435 Spectrin, 17 hits
PIRSFiPIRSF002297 Spectrin_beta_subunit, 1 hit
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00150 SPEC, 17 hits
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiSPTB1_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: P11277
Secondary accession number(s): Q15510, Q15519
<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: July 1, 1989
Last sequence update: November 25, 2008
Last modified: January 16, 2019
This is version 200 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, Complete proteome, Direct protein sequencing, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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