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Entry version 174 (16 Oct 2019)
Sequence version 2 (16 Nov 2001)
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Protein

Spectrin beta chain, non-erythrocytic 4

Gene

SPTBN4

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

<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

GO - Biological processi

<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, non-erythrocytic 4
Alternative name(s):
Beta-IV spectrin
Spectrin, non-erythroid beta chain 3
<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:SPTBN4
Synonyms:KIAA1642, SPTBN3
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14896 SPTBN4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606214 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H254

<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

Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy.
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_079212533 – 2564Missing in NEDHND; decreased protein abundance in patient cells homozygous for the mutation. 1 PublicationAdd BLAST2032

Keywords - Diseasei

Deafness, Disease mutation, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
57731

MalaCards human disease database

More...
MalaCardsi
SPTBN4
MIMi617519 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000160460

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37918

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H254

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SPTBN4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17368942

<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_00000734651 – 2564Spectrin beta chain, non-erythrocytic 4Add BLAST2564

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H254

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H254

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H254

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H254

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

More...
PaxDbi
Q9H254

PeptideAtlas

More...
PeptideAtlasi
Q9H254

PRoteomics IDEntifications database

More...
PRIDEi
Q9H254

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20368
80498 [Q9H254-1]
80499 [Q9H254-2]
80500 [Q9H254-3]
80501 [Q9H254-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H254

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

More...
PhosphoSitePlusi
Q9H254

<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

Expressed in skeletal muscle at the sarcolemma and in the muscle capillaries (at protein level) (PubMed:28540413). Abundantly expressed in brain and pancreatic islets (PubMed:11086001).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000160460 Expressed in 178 organ(s), highest expression level in cerebellar hemisphere

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H254 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H254 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054481

<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%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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121751, 21 interactors

Protein interaction database and analysis system

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IntActi
Q9H254, 17 interactors

Molecular INTeraction database

More...
MINTi
Q9H254

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000263373

<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
Q9H254

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>Domaini61 – 165Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini180 – 285Calponin-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>Repeati311 – 418Spectrin 1Sequence analysisAdd BLAST108
Repeati430 – 533Spectrin 2Sequence analysisAdd BLAST104
Repeati536 – 641Spectrin 3Sequence analysisAdd BLAST106
Repeati774 – 879Spectrin 4Sequence analysisAdd BLAST106
Repeati884 – 982Spectrin 5Sequence analysisAdd BLAST99
Repeati1089 – 1196Spectrin 6Sequence analysisAdd BLAST108
Repeati1306 – 1407Spectrin 7Sequence analysisAdd BLAST102
Repeati1412 – 1512Spectrin 8Sequence analysisAdd BLAST101
Repeati1515 – 1617Spectrin 9Sequence analysisAdd BLAST103
Repeati1623 – 1725Spectrin 10Sequence analysisAdd BLAST103
Repeati1728 – 1830Spectrin 11Sequence analysisAdd BLAST103
Repeati1835 – 1935Spectrin 12Sequence analysisAdd BLAST101
Repeati1944 – 2046Spectrin 13Sequence analysisAdd BLAST103
Repeati2049 – 2123Spectrin 14Sequence analysisAdd BLAST75
Domaini2418 – 2527PHPROSITE-ProRule annotationAdd BLAST110

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>Regioni1 – 282Actin-bindingAdd BLAST282

<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
KOG0035 Eukaryota
COG5069 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156343

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000205044

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H254

KEGG Orthology (KO)

More...
KOi
K06115

Identification of Orthologs from Complete Genome Data

More...
OMAi
TRWESPD

Database of Orthologous Groups

More...
OrthoDBi
543832at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H254

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
2.30.29.30, 1 hit

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
IPR011993 PH-like_dom_sf
IPR041681 PH_9
IPR001605 PH_dom-spectrin-type
IPR001849 PH_domain
IPR018159 Spectrin/alpha-actinin
IPR016343 Spectrin_bsu
IPR002017 Spectrin_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00307 CH, 2 hits
PF15410 PH_9, 1 hit
PF00435 Spectrin, 14 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF002297 Spectrin_beta_subunit, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00683 SPECTRINPH

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 2 hits
SM00233 PH, 1 hit
SM00150 SPEC, 16 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
PS50003 PH_DOMAIN, 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_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 (5+)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 5 <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 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H254-1) [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
MAQVPGEVDN MEGLPAPNNN PAARWESPDR GWEREQPAAS TAAASLFECS
60 70 80 90 100
RIKALADERE AVQKKTFTKW VNSHLARVGC HIGDLYVDLR DGFVLTRLLE
110 120 130 140 150
VLSGEQLPRP TRGRMRIHSL ENVDKALQFL KEQRVHLENV GSHDIVDGNH
160 170 180 190 200
RLTLGLVWTI ILRFQIQVIK IETEDNRETR SAKDALLLWC QMKTAGYPEV
210 220 230 240 250
NIQNFTTSWR DGLAFNALIH RHRPDLVDFS KLTKSNANYN LQRAFRTAEQ
260 270 280 290 300
HLGLARLLDP EDVNMEAPDE KSIITYVVSF YHYFSKMKAL AVEGKRIGKV
310 320 330 340 350
LDQVLEVGKI IERYEELAAE LLAWIHRTVG LISNQKFANS LSGVQQQLQA
360 370 380 390 400
FTAYCTLEKP VKFQEKGNLE VLLFSIQSKL RACNRRLFVP REGCGIWDID
410 420 430 440 450
KAWGELEKAE HEREAALRAE LIRQEKLELL AQRFDHKVAM RESWLNENQR
460 470 480 490 500
LVSQDNFGYE LPAVEAAMKK HEAIEADIAA YEERVQGVAE LAQALAAEGY
510 520 530 540 550
YDIRRVAAQR DSVLRQWALL TGLVGARRTR LEQNLALQKV FQEMVYMVDW
560 570 580 590 600
MEEMQAQLLS RECGQHLVEA DDLLQKHGLL EGDIAAQSER VEALNAAALR
610 620 630 640 650
FSQLQGYQPC DPQVICNRVN HVHGCLAELQ EQAARRRAEL EASRSLWALL
660 670 680 690 700
QELEEAESWA RDKERLLEAA GGGGAAGAAG AAGTAGGAHD LSSTARLLAQ
710 720 730 740 750
HKILQGELGG RRALLQQALR CGEELVAAGG AVGPGADTVH LVGLAERAAS
760 770 780 790 800
ARRRWQRLEE AAARRERRLQ EARALHQFGA DLDGLLDWLR DAYRLAAAGD
810 820 830 840 850
FGHDEASSRR LARQHRALTG EVEAHRGPVS GLRRQLATLG GASGAGPLVV
860 870 880 890 900
ALQVRVVEAE QLFAEVTEVA ALRRQWLRDA LAVYRMFGEV HACELWIGEK
910 920 930 940 950
EQWLLSMRVP DSLDDVEVVQ HRFESLDQEM NSLMGRVLDV NHTVQELVEG
960 970 980 990 1000
GHPSSDEVRS CQDHLNSRWN RIVELVEQRK EEMSAVLLVE NHVLEVAEVR
1010 1020 1030 1040 1050
AQVREKRRAV ESAPRAGGAL QWRLSGLEAA LQALEPRQAA LLEEAALLAE
1060 1070 1080 1090 1100
RFPAQAARLH QGAEELGAEW GALASAAQAC GEAVAAAGRL QRFLHDLDAF
1110 1120 1130 1140 1150
LDWLVRAQEA AGGSEGPLPN SLEEADALLA RHAALKEEVD QREEDYARIV
1160 1170 1180 1190 1200
AASEALLAAD GAELGPGLAL DEWLPHLELG WHKLLGLWEA RREALVQAHI
1210 1220 1230 1240 1250
YQLFLRDLRQ ALVVLRNQEM ALSGAELPGT VESVEEALKQ HRDFLTTMEL
1260 1270 1280 1290 1300
SQQKMQVAVQ AAEGLLRQGN IYGEQAQEAV TRLLEKNQEN QLRAQQWMQK
1310 1320 1330 1340 1350
LHDQLELQHF LRDCHELDGW IHEKMLMARD GTREDNHKLH KRWLRHQAFM
1360 1370 1380 1390 1400
AELAQNKEWL EKIEREGQQL MQEKPELAAS VRKKLGEIRQ CWAELESTTQ
1410 1420 1430 1440 1450
AKARQLFEAS KADQLVQSFA ELDKKLLHME SQLQDVDPGG DLATVNSQLK
1460 1470 1480 1490 1500
KLQSMESQVE EWYREVGELQ AQTAALPLEP ASKELVGERQ NAVGERLVRL
1510 1520 1530 1540 1550
LEPLQERRRL LLASKELHQV AHDLDDELAW VQERLPLAMQ TERGNGLQAV
1560 1570 1580 1590 1600
QQHIKKNQGL RREIQAHGPR LEEVLERAGA LASLRSPEAE AVRRGLEQLQ
1610 1620 1630 1640 1650
SAWAGLREAA ERRQQVLDAA FQVEQYYFDV AEVEAWLGEQ ELLMMSEDKG
1660 1670 1680 1690 1700
KDEQSTLQLL KKHLQLEQGV ENYEESIAQL SRQCRALLEM GHPDSEQISR
1710 1720 1730 1740 1750
RQSQVDRLYV ALKELGEERR VALEQQYWLY QLSRQVSELE HWIAEKEVVA
1760 1770 1780 1790 1800
GSPELGQDFE HVSVLQEKFS EFASETGMAG RERLAAVNQM VDELIECGHT
1810 1820 1830 1840 1850
AAATMAEWKD GLNEAWAELL ELMGTRAQLL AASRELHKFF SDARELQGQI
1860 1870 1880 1890 1900
EEKRRRLPRL TTPPEPRPSA SSMQRTLRAF EHDLQLLVSQ VRQLQEGAAQ
1910 1920 1930 1940 1950
LRTVYAGEHA EAIASREQEV LQGWKELLSA CEDARLHVSS TADALRFHSQ
1960 1970 1980 1990 2000
VRDLLSWMDG IASQIGAADK PRDVSSVEVL MNYHQGLKTE LEARVPELTT
2010 2020 2030 2040 2050
CQELGRSLLL NKSAMADEIQ AQLDKLGTRK EEVSEKWDRH WEWLQQMLEV
2060 2070 2080 2090 2100
HQFAQEAVVA DAWLTAQEPL LQSRELGSSV DEVEQLIRRH EAFRKAAAAW
2110 2120 2130 2140 2150
EERFSSLRRL TTIEKIKAEQ SKQPPTPLLG RKFFGDPTEL AAKAAPLLRP
2160 2170 2180 2190 2200
GGYERGLEPL ARRASDTLSA EVRTRVGYVR QELKPERLQP RIDRLPEIPG
2210 2220 2230 2240 2250
RVEPAALPAA PEDAAETPAT PAAAEQVRPR PERQESADRA EELPRRRRPE
2260 2270 2280 2290 2300
RQESVDQSEE AARRRRPERQ ESAEHEAAHS LTLGRYEQME RRRERRERRL
2310 2320 2330 2340 2350
ERQESSEQEM PIRGDLVKGK ATLADIVEQL QEKEAGPGLP AGPSLPQPRE
2360 2370 2380 2390 2400
LPPGRLPNGL ELPERTPRPD RPRARDRPKP RRRPRPREGG EGGGSRRSRS
2410 2420 2430 2440 2450
APAQGGSAPA PPPPPTHTVQ HEGFLLRKRE LDANRKSSNR SWVSLYCVLS
2460 2470 2480 2490 2500
KGELGFYKDS KGPASGSTHG GEPLLSLHKA TSEVASDYKK KKHVFKLQTQ
2510 2520 2530 2540 2550
DGSEFLLQAK DEEEMNGWLE AVASSVAEHA EIARWGQTLP TTSSTDEGNP
2560
KREGGDRRAS GRRK
Length:2,564
Mass (Da):288,985
Last modified:November 16, 2001 - v2
<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:i52CDE7D11D601ECC
GO
Isoform 2 (identifier: Q9H254-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1287-1309: NQENQLRAQQWMQKLHDQLELQH → CLIIHPALLHPPWEPPYLPRSSS
     1310-2564: Missing.

Show »
Length:1,309
Mass (Da):146,169
Checksum:i7EC61D92DAC5479C
GO
Isoform 3 (identifier: Q9H254-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1257: Missing.
     1258-1286: AVQAAEGLLRQGNIYGEQAQEAVTRLLEK → MPHYPSCSSAPSLGTPIPPQIQQLEARHR

Show »
Length:1,307
Mass (Da):148,622
Checksum:i1CE0DB8C9686B90E
GO
Isoform 4 (identifier: Q9H254-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2113-2154: IEKIKAEQSK...APLLRPGGYE → PRREDHLNPG...KTARRDGTCL
     2155-2564: Missing.

Show »
Length:2,154
Mass (Da):243,424
Checksum:iB36417A996D80609
GO
Isoform 5 (identifier: Q9H254-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1324: Missing.
     1973-2002: DVSSVEVLMNYHQGLKTELEARVPELTTCQ → CPSSLLGLPASPWWPTPATPSPLTAPFSME
     2003-2564: Missing.

Show »
Length:678
Mass (Da):77,167
Checksum:i53C7058D7A66F4B9
GO

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

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JY79C9JY79_HUMAN
Spectrin beta chain
SPTBN4 SPNB4
2,564Annotation score:

Annotation score:2 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>
M0QZQ3M0QZQ3_HUMAN
Spectrin beta chain
SPTBN4
2,002Annotation score:

Annotation score:2 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>
M0R1V6M0R1V6_HUMAN
Spectrin beta chain, non-erythrocyt...
SPTBN4
701Annotation 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 conflicti604 – 608Missing in AAG38874 (PubMed:11086001).Curated5
Sequence conflicti604 – 608Missing in AAF93171 (PubMed:11086001).Curated5
Sequence conflicti714L → S in AAG38874 (PubMed:11086001).Curated1
Sequence conflicti714L → S in AAF93171 (PubMed:11086001).Curated1
Sequence conflicti714L → S in AAF93173 (PubMed:11086001).Curated1
Sequence conflicti1189E → K in AAG38874 (PubMed:11086001).Curated1
Sequence conflicti1189E → K in AAF93171 (PubMed:11086001).Curated1
Sequence conflicti1189E → K in AAF93173 (PubMed:11086001).Curated1
Sequence conflicti1193E → K in AAG38874 (PubMed:11086001).Curated1
Sequence conflicti1193E → K in AAF93171 (PubMed:11086001).Curated1
Sequence conflicti1193E → K in AAF93173 (PubMed:11086001).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079212533 – 2564Missing in NEDHND; decreased protein abundance in patient cells homozygous for the mutation. 1 PublicationAdd BLAST2032
Natural variantiVAR_0486321331G → S1 PublicationCorresponds to variant dbSNP:rs814501Ensembl.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_0463831 – 1324Missing in isoform 5. 1 PublicationAdd BLAST1324
Alternative sequenceiVSP_0007231 – 1257Missing in isoform 3. 1 PublicationAdd BLAST1257
Alternative sequenceiVSP_0007241258 – 1286AVQAA…RLLEK → MPHYPSCSSAPSLGTPIPPQ IQQLEARHR in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_0007251287 – 1309NQENQ…LELQH → CLIIHPALLHPPWEPPYLPR SSS in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_0007261310 – 2564Missing in isoform 2. 1 PublicationAdd BLAST1255
Alternative sequenceiVSP_0463841973 – 2002DVSSV…LTTCQ → CPSSLLGLPASPWWPTPATP SPLTAPFSME in isoform 5. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_0463852003 – 2564Missing in isoform 5. 1 PublicationAdd BLAST562
Alternative sequenceiVSP_0007272113 – 2154IEKIK…PGGYE → PRREDHLNPGVQDQPWQHTE KPSLPKPKANKEKTARRDGT CL in isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0007282155 – 2564Missing in isoform 4. 1 PublicationAdd BLAST410

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
AF311855 mRNA Translation: AAG42473.1
AF311856 mRNA Translation: AAG42474.1
AF082075 mRNA Translation: AAG38874.1
AY004226 mRNA Translation: AAF93171.1
AY004226 mRNA Translation: AAF93172.1
AY004227 mRNA Translation: AAF93173.1
AC020929 Genomic DNA No translation available.
AB046862 mRNA Translation: BAB13468.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12559.1 [Q9H254-1]
CCDS42569.1 [Q9H254-5]

NCBI Reference Sequences

More...
RefSeqi
NP_066022.2, NM_020971.2 [Q9H254-1]
NP_079489.2, NM_025213.2 [Q9H254-5]
XP_016882538.1, XM_017027049.1 [Q9H254-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000352632; ENSP00000263373; ENSG00000160460 [Q9H254-1]
ENST00000392023; ENSP00000375877; ENSG00000160460 [Q9H254-5]
ENST00000598249; ENSP00000469242; ENSG00000160460 [Q9H254-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57731

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57731

UCSC genome browser

More...
UCSCi
uc002ony.4 human [Q9H254-1]

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
AF311855 mRNA Translation: AAG42473.1
AF311856 mRNA Translation: AAG42474.1
AF082075 mRNA Translation: AAG38874.1
AY004226 mRNA Translation: AAF93171.1
AY004226 mRNA Translation: AAF93172.1
AY004227 mRNA Translation: AAF93173.1
AC020929 Genomic DNA No translation available.
AB046862 mRNA Translation: BAB13468.1
CCDSiCCDS12559.1 [Q9H254-1]
CCDS42569.1 [Q9H254-5]
RefSeqiNP_066022.2, NM_020971.2 [Q9H254-1]
NP_079489.2, NM_025213.2 [Q9H254-5]
XP_016882538.1, XM_017027049.1 [Q9H254-1]

3D structure databases

SMRiQ9H254
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121751, 21 interactors
IntActiQ9H254, 17 interactors
MINTiQ9H254
STRINGi9606.ENSP00000263373

PTM databases

iPTMnetiQ9H254
PhosphoSitePlusiQ9H254

Polymorphism and mutation databases

BioMutaiSPTBN4
DMDMi17368942

Proteomic databases

EPDiQ9H254
jPOSTiQ9H254
MassIVEiQ9H254
MaxQBiQ9H254
PaxDbiQ9H254
PeptideAtlasiQ9H254
PRIDEiQ9H254
ProteomicsDBi20368
80498 [Q9H254-1]
80499 [Q9H254-2]
80500 [Q9H254-3]
80501 [Q9H254-4]

Genome annotation databases

EnsembliENST00000352632; ENSP00000263373; ENSG00000160460 [Q9H254-1]
ENST00000392023; ENSP00000375877; ENSG00000160460 [Q9H254-5]
ENST00000598249; ENSP00000469242; ENSG00000160460 [Q9H254-1]
GeneIDi57731
KEGGihsa:57731
UCSCiuc002ony.4 human [Q9H254-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57731
DisGeNETi57731

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SPTBN4
HGNCiHGNC:14896 SPTBN4
HPAiHPA054481
MalaCardsiSPTBN4
MIMi606214 gene
617519 phenotype
neXtProtiNX_Q9H254
OpenTargetsiENSG00000160460
PharmGKBiPA37918

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00940000156343
HOGENOMiHOG000205044
InParanoidiQ9H254
KOiK06115
OMAiTRWESPD
OrthoDBi543832at2759
PhylomeDBiQ9H254
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
SPTBN4 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SPTBN4

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

More...
GenomeRNAii
57731
PharosiQ9H254

Protein Ontology

More...
PROi
PR:Q9H254

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160460 Expressed in 178 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiQ9H254 baseline and differential
GenevisibleiQ9H254 HS

Family and domain databases

CDDicd00014 CH, 2 hits
Gene3Di1.10.418.10, 2 hits
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011993 PH-like_dom_sf
IPR041681 PH_9
IPR001605 PH_dom-spectrin-type
IPR001849 PH_domain
IPR018159 Spectrin/alpha-actinin
IPR016343 Spectrin_bsu
IPR002017 Spectrin_repeat
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF15410 PH_9, 1 hit
PF00435 Spectrin, 14 hits
PIRSFiPIRSF002297 Spectrin_beta_subunit, 1 hit
PRINTSiPR00683 SPECTRINPH
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00233 PH, 1 hit
SM00150 SPEC, 16 hits
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50003 PH_DOMAIN, 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 nameiSPTN4_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: Q9H254
Secondary accession number(s): E9PGQ5
, Q9H1K7, Q9H1K8, Q9H1K9, Q9H253, Q9H3G8, Q9HCD0
<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: November 16, 2001
Last sequence update: November 16, 2001
Last modified: October 16, 2019
This is version 174 of the entry and version 2 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 19
    Human chromosome 19: 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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