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Protein

Spectrin beta chain, non-erythrocytic 4

Gene

SPTBN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • actin binding Source: BHF-UCL
  • ankyrin binding Source: UniProtKB
  • phosphatase binding Source: BHF-UCL
  • phospholipid binding Source: InterPro
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • spectrin binding Source: BHF-UCL
  • structural constituent of cytoskeleton Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActin capping, Actin-binding

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

Names & Taxonomyi

Protein namesi
Recommended name:
Spectrin beta chain, non-erythrocytic 4
Alternative name(s):
Beta-IV spectrin
Spectrin, non-erythroid beta chain 3
Gene namesi
Name:SPTBN4
Synonyms:KIAA1642, SPTBN3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000160460.15
HGNCiHGNC:14896 SPTBN4
MIMi606214 gene
neXtProtiNX_Q9H254

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

Pathology & Biotechi

Involvement in diseasei

Myopathy, congenital, with neuropathy and deafness (CMND)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive congenital myopathy characterized by 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.
See also OMIM:617519
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079212533 – 2564Missing in CMND; decreased protein abundance in patient cells homozygous for the mutation. 1 PublicationAdd BLAST2032

Keywords - Diseasei

Deafness, Disease mutation, Neuropathy

Organism-specific databases

DisGeNETi57731
MalaCardsiSPTBN4
MIMi617519 phenotype
OpenTargetsiENSG00000160460
PharmGKBiPA37918

Polymorphism and mutation databases

BioMutaiSPTBN4
DMDMi17368942

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000734651 – 2564Spectrin beta chain, non-erythrocytic 4Add BLAST2564

Proteomic databases

EPDiQ9H254
MaxQBiQ9H254
PaxDbiQ9H254
PeptideAtlasiQ9H254
PRIDEiQ9H254
ProteomicsDBi80498
80499 [Q9H254-2]
80500 [Q9H254-3]
80501 [Q9H254-4]

PTM databases

iPTMnetiQ9H254
PhosphoSitePlusiQ9H254

Expressioni

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

BgeeiENSG00000160460 Expressed in 178 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_SPTBN4
ExpressionAtlasiQ9H254 baseline and differential
GenevisibleiQ9H254 HS

Organism-specific databases

HPAiHPA054481

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121751, 21 interactors
IntActiQ9H254, 12 interactors
MINTiQ9H254
STRINGi9606.ENSP00000263373

Structurei

3D structure databases

ProteinModelPortaliQ9H254
SMRiQ9H254
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini61 – 165Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini180 – 285Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST106
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
Regioni1 – 282Actin-bindingAdd BLAST282

Sequence similaritiesi

Belongs to the spectrin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00760000118813
HOGENOMiHOG000205044
HOVERGENiHBG077294
InParanoidiQ9H254
KOiK06115
OMAiYYDIRRI
PhylomeDBiQ9H254
TreeFamiTF313446

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
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
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

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 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 '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
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
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

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:
M0QZQ3M0QZQ3_HUMAN
Spectrin beta chain
SPTBN4
2,002Annotation score:
M0R1V6M0R1V6_HUMAN
Spectrin beta chain, non-erythrocyt...
SPTBN4
701Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 CMND; 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
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:
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]
UniGeneiHs.32706

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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]
UniGeneiHs.32706

3D structure databases

ProteinModelPortaliQ9H254
SMRiQ9H254
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121751, 21 interactors
IntActiQ9H254, 12 interactors
MINTiQ9H254
STRINGi9606.ENSP00000263373

PTM databases

iPTMnetiQ9H254
PhosphoSitePlusiQ9H254

Polymorphism and mutation databases

BioMutaiSPTBN4
DMDMi17368942

Proteomic databases

EPDiQ9H254
MaxQBiQ9H254
PaxDbiQ9H254
PeptideAtlasiQ9H254
PRIDEiQ9H254
ProteomicsDBi80498
80499 [Q9H254-2]
80500 [Q9H254-3]
80501 [Q9H254-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi57731
DisGeNETi57731
EuPathDBiHostDB:ENSG00000160460.15
GeneCardsiSPTBN4
H-InvDBiHIX0015138
HGNCiHGNC:14896 SPTBN4
HPAiHPA054481
MalaCardsiSPTBN4
MIMi606214 gene
617519 phenotype
neXtProtiNX_Q9H254
OpenTargetsiENSG00000160460
PharmGKBiPA37918
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0035 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00760000118813
HOGENOMiHOG000205044
HOVERGENiHBG077294
InParanoidiQ9H254
KOiK06115
OMAiYYDIRRI
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

GeneWikiiSPTBN4
GenomeRNAii57731
PROiPR:Q9H254
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160460 Expressed in 178 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_SPTBN4
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
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
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
ProtoNetiSearch...

Entry informationi

Entry nameiSPTN4_HUMAN
AccessioniPrimary (citable) accession number: Q9H254
Secondary accession number(s): E9PGQ5
, Q9H1K7, Q9H1K8, Q9H1K9, Q9H253, Q9H3G8, Q9HCD0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: November 7, 2018
This is version 167 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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