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Protein

Integrin beta-4

Gene

ITGB4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760).4 Publications

GO - Molecular functioni

  • G-protein coupled receptor binding Source: UniProtKB
  • receptor activity Source: InterPro

GO - Biological processi

  • amelogenesis Source: UniProtKB
  • autophagy Source: UniProtKB
  • cell adhesion Source: ProtInc
  • cell-matrix adhesion Source: UniProtKB
  • cell motility Source: UniProtKB
  • digestive tract development Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • hemidesmosome assembly Source: UniProtKB
  • integrin-mediated signaling pathway Source: UniProtKB-KW
  • mesodermal cell differentiation Source: UniProtKB
  • nail development Source: UniProtKB
  • renal system development Source: UniProtKB
  • response to wounding Source: UniProtKB
  • skin development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Integrin, Receptor

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132470-MONOMER.
ReactomeiR-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-3000157. Laminin interactions.
R-HSA-3000170. Syndecan interactions.
R-HSA-446107. Type I hemidesmosome assembly.
SignaLinkiP16144.
SIGNORiP16144.

Names & Taxonomyi

Protein namesi
Recommended name:
Integrin beta-4
Alternative name(s):
GP150
CD_antigen: CD104
Gene namesi
Name:ITGB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:6158. ITGB4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini28 – 710ExtracellularSequence analysisAdd BLAST683
Transmembranei711 – 733HelicalSequence analysisAdd BLAST23
Topological domaini734 – 1822CytoplasmicSequence analysisAdd BLAST1089

GO - Cellular componenti

  • cell junction Source: HPA
  • cell leading edge Source: UniProtKB
  • cell surface Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • hemidesmosome Source: UniProtKB
  • integrin complex Source: ProtInc
  • nucleus Source: HPA
  • plasma membrane Source: UniProtKB
  • receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Epidermolysis bullosa letalis, with pyloric atresia (EB-PA)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.
See also OMIM:226730
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01065238C → R in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912465dbSNPEnsembl.1
Natural variantiVAR_00400661C → Y in EB-PA; lethal form. 1 PublicationCorresponds to variant rs80338755dbSNPEnsembl.1
Natural variantiVAR_011293131D → Y in EB-PA; lethal form. 1 Publication1
Natural variantiVAR_004007156L → P in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912461dbSNPEnsembl.1
Natural variantiVAR_004008245C → G in EB-PA; lethal form. 1 Publication1
Natural variantiVAR_004009252R → C in EB-PA; mild form. 2 PublicationsCorresponds to variant rs201494421dbSNPEnsembl.1
Natural variantiVAR_011294273G → D in EB-PA; lethal form. 1 Publication1
Natural variantiVAR_011295283R → C in EB-PA. 1 Publication1
Natural variantiVAR_011296325V → D in EB-PA. 1 Publication1
Natural variantiVAR_011297336L → P in EB-PA; mild form. 1 Publication1
Natural variantiVAR_004010562C → R in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912463dbSNPEnsembl.1
Natural variantiVAR_0113011225R → H in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912468dbSNPEnsembl.1
Natural variantiVAR_0040111281R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. 3 PublicationsCorresponds to variant rs121912467dbSNPEnsembl.1
Generalized atrophic benign epidermolysis bullosa (GABEB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
See also OMIM:226650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011299931G → D in GABEB. 1 PublicationCorresponds to variant rs121912466dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

DisGeNETi3691.
MalaCardsiITGB4.
MIMi226650. phenotype.
226730. phenotype.
OpenTargetsiENSG00000132470.
Orphaneti158684. Epidermolysis bullosa simplex with pyloric atresia.
79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79403. Junctional epidermolysis bullosa - pyloric atresia.
251393. Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKBiPA29957.

Polymorphism and mutation databases

BioMutaiITGB4.
DMDMi317373584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 271 PublicationAdd BLAST27
ChainiPRO_000001634628 – 1822Integrin beta-4Add BLAST1795

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi30 ↔ 455By similarity
Disulfide bondi38 ↔ 48By similarity
Disulfide bondi41 ↔ 72By similarity
Disulfide bondi51 ↔ 61By similarity
Disulfide bondi245 ↔ 288By similarity
Glycosylationi327N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi424 ↔ 671By similarity
Disulfide bondi452 ↔ 457By similarity
Disulfide bondi468 ↔ 479By similarity
Disulfide bondi476 ↔ 512By similarity
Disulfide bondi481 ↔ 490By similarity
Glycosylationi491N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi492 ↔ 503By similarity
Disulfide bondi518 ↔ 523By similarity
Disulfide bondi520 ↔ 551By similarity
Disulfide bondi525 ↔ 536By similarity
Disulfide bondi557 ↔ 562By similarity
Disulfide bondi564 ↔ 573By similarity
Disulfide bondi575 ↔ 582By similarity
Glycosylationi579N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi596 ↔ 601By similarity
Disulfide bondi598 ↔ 648By similarity
Disulfide bondi603 ↔ 614By similarity
Glycosylationi617N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi626 ↔ 635By similarity
Disulfide bondi632 ↔ 706By similarity
Disulfide bondi651 ↔ 680By similarity
Glycosylationi695N-linked (GlcNAc...)1 Publication1
Modified residuei771PhosphoserineBy similarity1
Modified residuei1069PhosphoserineCombined sources1
Modified residuei1119PhosphoserineBy similarity1
Modified residuei1454PhosphoserineCombined sources1
Modified residuei1457PhosphoserineCombined sources1
Modified residuei1474PhosphoserineCombined sources1
Modified residuei1487PhosphothreonineCombined sources1
Modified residuei1494PhosphoserineBy similarity1
Modified residuei1530PhosphothreonineCombined sources1
Modified residuei1791PhosphoserineBy similarity1

Post-translational modificationi

Palmitoylated by DHHC3 at several cysteines of the membrane-proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secundary association with tertaspanins.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiP16144.
MaxQBiP16144.
PaxDbiP16144.
PeptideAtlasiP16144.
PRIDEiP16144.

PTM databases

iPTMnetiP16144.
PhosphoSitePlusiP16144.
SwissPalmiP16144.

Expressioni

Tissue specificityi

Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach.

Gene expression databases

BgeeiENSG00000132470.
CleanExiHS_ITGB4.
ExpressionAtlasiP16144. baseline and differential.
GenevisibleiP16144. HS.

Organism-specific databases

HPAiCAB002422.
CAB005258.
HPA036348.
HPA036349.

Interactioni

Subunit structurei

Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1. ITGA6:ITGB4 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGA6:ITGB4 is found in a ternary complex with IGF1 and IGF1R (PubMed:22351760).6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ARRDC3Q96B673EBI-948678,EBI-2875665
Cadm1Q8R5M8-23EBI-948678,EBI-5651941From a different organism.
ITGA6P232293EBI-948678,EBI-2436548
PLECQ151497EBI-948678,EBI-297903
S1PR2O951362EBI-948678,EBI-10634606
S1PR3Q995003EBI-948678,EBI-10634734

GO - Molecular functioni

  • G-protein coupled receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109897. 32 interactors.
DIPiDIP-40182N.
IntActiP16144. 55 interactors.
MINTiMINT-5004072.
STRINGi9606.ENSP00000200181.

Structurei

Secondary structure

11822
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi990 – 995Combined sources6
Beta strandi997 – 1002Combined sources6
Helixi1003 – 1005Combined sources3
Beta strandi1006 – 1016Combined sources11
Beta strandi1022 – 1033Combined sources12
Turni1035 – 1037Combined sources3
Beta strandi1043 – 1048Combined sources6
Beta strandi1054 – 1061Combined sources8
Turni1070 – 1073Combined sources4
Beta strandi1076 – 1087Combined sources12
Beta strandi1096 – 1103Combined sources8
Beta strandi1131 – 1137Combined sources7
Beta strandi1139 – 1141Combined sources3
Beta strandi1143 – 1148Combined sources6
Beta strandi1156 – 1163Combined sources8
Helixi1168 – 1170Combined sources3
Beta strandi1172 – 1183Combined sources12
Beta strandi1191 – 1200Combined sources10
Beta strandi1203 – 1207Combined sources5
Beta strandi1211 – 1214Combined sources4
Beta strandi1227 – 1230Combined sources4
Beta strandi1232 – 1234Combined sources3
Beta strandi1236 – 1239Combined sources4
Beta strandi1252 – 1260Combined sources9
Beta strandi1262 – 1264Combined sources3
Beta strandi1266 – 1268Combined sources3
Beta strandi1271 – 1275Combined sources5
Beta strandi1282 – 1286Combined sources5
Beta strandi1294 – 1302Combined sources9
Beta strandi1310 – 1314Combined sources5
Helixi1316 – 1318Combined sources3
Beta strandi1334 – 1336Combined sources3
Beta strandi1344 – 1348Combined sources5
Beta strandi1522 – 1524Combined sources3
Beta strandi1535 – 1538Combined sources4
Beta strandi1544 – 1547Combined sources4
Beta strandi1557 – 1566Combined sources10
Beta strandi1573 – 1577Combined sources5
Beta strandi1584 – 1587Combined sources4
Beta strandi1595 – 1604Combined sources10
Beta strandi1612 – 1617Combined sources6
Beta strandi1648 – 1653Combined sources6
Beta strandi1656 – 1662Combined sources7
Beta strandi1671 – 1680Combined sources10
Beta strandi1683 – 1685Combined sources3
Beta strandi1688 – 1694Combined sources7
Beta strandi1697 – 1703Combined sources7
Beta strandi1712 – 1722Combined sources11
Beta strandi1724 – 1732Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1QG3X-ray2.15A/B1126-1320[»]
2YRZNMR-A1518-1622[»]
3F7PX-ray2.75C/D/E1126-1369[»]
3F7QX-ray1.75A/B1126-1355[»]
3F7RX-ray2.04A1126-1369[»]
3FQ4X-ray1.49A/B989-1107[»]
3FSOX-ray1.41A/B989-1107[»]
3H6AX-ray1.61A/B989-1107[»]
4Q58X-ray4.00C/D1126-1320[»]
4WTWX-ray1.61A/B1527-1618[»]
4WTXX-ray1.50A1642-1736[»]
ProteinModelPortaliP16144.
SMRiP16144.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP16144.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini29 – 73PSIAdd BLAST45
Domaini131 – 329VWFAAdd BLAST199
Repeati456 – 502IAdd BLAST47
Repeati503 – 542IIAdd BLAST40
Repeati543 – 581IIIAdd BLAST39
Repeati582 – 619IVAdd BLAST38
Domaini979 – 1084Calx-betaAdd BLAST106
Domaini1129 – 1218Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST90
Domaini1222 – 1321Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST100
Domaini1530 – 1625Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini1643 – 1739Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST97

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni194 – 199Involved in NRG1- and IGF1-binding2 Publications6
Regioni456 – 619Cysteine-rich tandem repeatsAdd BLAST164
Regioni732 – 749Palmitoylated on several cysteinesAdd BLAST18

Domaini

The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.

Sequence similaritiesi

Belongs to the integrin beta chain family.Curated
Contains 1 Calx-beta domain.Curated
Contains 4 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 1 PSI domain.Curated
Contains 1 VWFA domain.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1226. Eukaryota.
ENOG410XP60. LUCA.
GeneTreeiENSGT00760000119064.
HOGENOMiHOG000231105.
HOVERGENiHBG006189.
InParanoidiP16144.
KOiK06525.
OMAiEDDDCTY.
OrthoDBiEOG091G029W.
PhylomeDBiP16144.
TreeFamiTF105392.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 4 hits.
3.40.50.410. 1 hit.
InterProiIPR003644. Calx_beta.
IPR013032. EGF-like_CS.
IPR013111. EGF_extracell.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR033760. Integin_beta_N.
IPR015812. Integrin_bsu.
IPR012013. Integrin_bsu-4.
IPR012896. Integrin_bsu_tail.
IPR002369. Integrin_bsu_VWA.
IPR016201. PSI.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR10082. PTHR10082. 2 hits.
PTHR10082:SF42. PTHR10082:SF42. 2 hits.
PfamiPF03160. Calx-beta. 1 hit.
PF07974. EGF_2. 1 hit.
PF00041. fn3. 4 hits.
PF07965. Integrin_B_tail. 1 hit.
PF00362. Integrin_beta. 1 hit.
PF17205. PSI_integrin. 1 hit.
[Graphical view]
PIRSFiPIRSF002513. Integrin_B4. 1 hit.
PRINTSiPR01186. INTEGRINB.
SMARTiSM00237. Calx_beta. 1 hit.
SM00060. FN3. 4 hits.
SM00187. INB. 1 hit.
SM01242. Integrin_B_tail. 1 hit.
SM00423. PSI. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
SSF69687. SSF69687. 1 hit.
PROSITEiPS00022. EGF_1. 2 hits.
PS01186. EGF_2. 2 hits.
PS50853. FN3. 4 hits.
PS00243. INTEGRIN_BETA. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Beta-4C (identifier: P16144-1) [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
MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY
60 70 80 90 100
CTDEMFRDRR CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ
110 120 130 140 150
MSPQGLRVRL RPGEERHFEL EVFEPLESPV DLYILMDFSN SMSDDLDNLK
160 170 180 190 200
KMGQNLARVL SQLTSDYTIG FGKFVDKVSV PQTDMRPEKL KEPWPNSDPP
210 220 230 240 250
FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL QTAVCTRDIG
260 270 280 290 300
WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR
310 320 330 340 350
TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE
360 370 380 390 400
DSSNIVELLE EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI
410 420 430 440 450
RRGEVGIYQV QLRALEHVDG THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI
460 470 480 490 500
ICDVCTCELQ KEVRSARCSF NGDFVCGQCV CSEGWSGQTC NCSTGSLSDI
510 520 530 540 550
QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN FQCPRTSGFL
560 570 580 590 600
CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR
610 620 630 640 650
CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE
660 670 680 690 700
CNFKVKMVDE LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV
710 720 730 740 750
HKKKDCPPGS FWWLIPLLLL LLPLLALLLL LCWKYCACCK ACLALLPCCN
760 770 780 790 800
RGHMVGFKED HYMLRENLMA SDHLDTPMLR SGNLKGRDVV RWKVTNNMQR
810 820 830 840 850
PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC AQLRQEVEEN
860 870 880 890 900
LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK
910 920 930 940 950
LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI
960 970 980 990 1000
RPEDDDEKQL LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS
1010 1020 1030 1040 1050
VSRGDQVARI PVIRRVLDGG KSQVSYRTQD GTAQGNRDYI PVEGELLFQP
1060 1070 1080 1090 1100
GEAWKELQVK LLELQEVDSL LRGRQVRRFH VQLSNPKFGA HLGQPHSTTI
1110 1120 1130 1140 1150
IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS RKIHFNWLPP
1160 1170 1180 1190 1200
SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG
1210 1220 1230 1240 1250
AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI
1260 1270 1280 1290 1300
TAYEVCYGLV NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA
1310 1320 1330 1340 1350
RNGAGWGPER EAIINLATQP KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS
1360 1370 1380 1390 1400
DDVLRSPSGS QRPSVSDDTG CGWKFEPLLG EELDLRRVTW RLPPELIPRL
1410 1420 1430 1440 1450
SASSGRSSDA EAPHGPPDDG GAGGKGGSLP RSATPGPPGE HLVNGRMDFA
1460 1470 1480 1490 1500
FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH
1510 1520 1530 1540 1550
SHSTTLPRDY STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE
1560 1570 1580 1590 1600
PRCERPLQGY SVEYQLLNGG ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV
1610 1620 1630 1640 1650
RAQSQEGWGR EREGVITIES QVHPQSPLCP LPGSAFTLST PSAPGPLVFT
1660 1670 1680 1690 1700
ALSPDSLQLS WERPRRPNGD IVGYLVTCEM AQGGGPATAF RVDGDSPESR
1710 1720 1730 1740 1750
LTVPGLSENV PYKFKVQART TEGFGPEREG IITIESQDGG PFPQLGSRAG
1760 1770 1780 1790 1800
LFQHPLQSEY SSITTTHTSA TEPFLVDGLT LGAQHLEAGG SLTRHVTQEF
1810 1820
VSRTLTTSGT LSTHMDQQFF QT
Length:1,822
Mass (Da):202,167
Last modified:January 11, 2011 - v5
Checksum:i09710FFBBD719469
GO
Isoform Beta-4A (identifier: P16144-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1370-1439: Missing.

Show »
Length:1,752
Mass (Da):195,013
Checksum:i3C473AEFB8804093
GO
Isoform Beta-4B (identifier: P16144-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1370-1439: Missing.
     1519-1519: H → HGLPPIWEHGRSRLPLSWALGSRSRAQMKGFPPSRGPRDSIILAGRPAAPSWGP

Show »
Length:1,805
Mass (Da):200,725
Checksum:i95FEBEEBA6CA8268
GO
Isoform Beta-4D (identifier: P16144-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1370-1439: Missing.
     1678-1685: CEMAQGGG → W

Show »
Length:1,745
Mass (Da):194,466
Checksum:iAA31D59C1019CFCD
GO
Isoform Beta-4E (identifier: P16144-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     851-964: LNEVYRQISG...DDEKQLLVEA → VRTQELGLAG...GRTGAPLYPA
     965-1822: Missing.

Show »
Length:964
Mass (Da):106,779
Checksum:i498952C0EAC8EC62
GO

Sequence cautioni

The sequence CAA37656 differs from that shown. Reason: Frameshift at positions 1413 and 1429.Curated
The sequence CAA37656 differs from that shown. Reason: Frameshift at positions 1414 and 1429.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti27Missing in CAB61345 (PubMed:9166594).Curated1
Sequence conflicti43R → Y AA sequence (PubMed:2542022).Curated1
Sequence conflicti46K → P AA sequence (PubMed:2542022).Curated1
Sequence conflicti621 – 704IHPGL…VHKKK → STRASARTYAPACSARRGAP ARRRGARVRNATSRSRWWTS LREARRWWCAAPSGTRMTTA PTATPWKVTAPLGPTALSWC TRRR in CAB61345 (PubMed:9166594).CuratedAdd BLAST84
Sequence conflicti802 – 804GFA → WLC in AAB65422 (PubMed:16625196).Curated3
Sequence conflicti1414 – 1429HGPPD…KGGSL → TAPRTTAARAGRAAAV in CAA37656 (PubMed:1976638).CuratedAdd BLAST16
Sequence conflicti1755P → L in AAI18917 (PubMed:15489334).Curated1
Sequence conflicti1777Missing in CAB61345 (PubMed:9166594).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01065238C → R in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912465dbSNPEnsembl.1
Natural variantiVAR_00400661C → Y in EB-PA; lethal form. 1 PublicationCorresponds to variant rs80338755dbSNPEnsembl.1
Natural variantiVAR_01129298R → H.1 PublicationCorresponds to variant rs143114124dbSNPEnsembl.1
Natural variantiVAR_011293131D → Y in EB-PA; lethal form. 1 Publication1
Natural variantiVAR_004007156L → P in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912461dbSNPEnsembl.1
Natural variantiVAR_004008245C → G in EB-PA; lethal form. 1 Publication1
Natural variantiVAR_004009252R → C in EB-PA; mild form. 2 PublicationsCorresponds to variant rs201494421dbSNPEnsembl.1
Natural variantiVAR_011294273G → D in EB-PA; lethal form. 1 Publication1
Natural variantiVAR_011295283R → C in EB-PA. 1 Publication1
Natural variantiVAR_011296325V → D in EB-PA. 1 Publication1
Natural variantiVAR_011297336L → P in EB-PA; mild form. 1 Publication1
Natural variantiVAR_027803478Q → H.Corresponds to variant rs8079267dbSNPEnsembl.1
Natural variantiVAR_004010562C → R in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912463dbSNPEnsembl.1
Natural variantiVAR_011298844R → L.1 PublicationCorresponds to variant rs140819116dbSNPEnsembl.1
Natural variantiVAR_011299931G → D in GABEB. 1 PublicationCorresponds to variant rs121912466dbSNPEnsembl.1
Natural variantiVAR_0113001216H → Q.1 PublicationCorresponds to variant rs149284152dbSNPEnsembl.1
Natural variantiVAR_0113011225R → H in EB-PA; mild form. 1 PublicationCorresponds to variant rs121912468dbSNPEnsembl.1
Natural variantiVAR_0040111281R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. 3 PublicationsCorresponds to variant rs121912467dbSNPEnsembl.1
Natural variantiVAR_0559711764T → S.2 PublicationsCorresponds to variant rs1051486dbSNPEnsembl.1
Natural variantiVAR_0278041779L → P.6 PublicationsCorresponds to variant rs871443dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002747851 – 964LNEVY…LLVEA → VRTQELGLAGDVAERGLQAD LRCTQAPADQVPAAAQCREK ARPHHCGHSADGAPLGQAGP AEAYREAGGTEGLPRPQGGP RLLHPHCRPGRPGHGGVPGG RGAGGRTGAPLYPA in isoform Beta-4E. 1 PublicationAdd BLAST114
Alternative sequenceiVSP_002748965 – 1822Missing in isoform Beta-4E. 1 PublicationAdd BLAST858
Alternative sequenceiVSP_0027491370 – 1439Missing in isoform Beta-4A, isoform Beta-4B and isoform Beta-4D. 4 PublicationsAdd BLAST70
Alternative sequenceiVSP_0027501519H → HGLPPIWEHGRSRLPLSWAL GSRSRAQMKGFPPSRGPRDS IILAGRPAAPSWGP in isoform Beta-4B. 2 Publications1
Alternative sequenceiVSP_0027511678 – 1685CEMAQGGG → W in isoform Beta-4D. Curated8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X51841 mRNA. Translation: CAA36134.1.
X52186 mRNA. Translation: CAA36433.1.
X53587 mRNA. Translation: CAA37656.1. Frameshift.
U66541
, U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51634.1.
U66541
, U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51633.1.
U66541
, U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51632.1.
AC087749 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89305.1.
BC118916 mRNA. Translation: AAI18917.1.
BC126411 mRNA. Translation: AAI26412.1.
AJ251004, Y11107 Genomic DNA. Translation: CAB61345.1.
AF011375 mRNA. Translation: AAB65421.1.
AF011376 Genomic DNA. Translation: AAB65422.1.
CCDSiCCDS11727.1. [P16144-1]
CCDS32736.1. [P16144-3]
CCDS58599.1. [P16144-2]
PIRiJC5545.
S12380. A36429.
RefSeqiNP_000204.3. NM_000213.4. [P16144-1]
NP_001005619.1. NM_001005619.1. [P16144-3]
NP_001005731.1. NM_001005731.2. [P16144-2]
NP_001308052.1. NM_001321123.1. [P16144-2]
UniGeneiHs.632226.

Genome annotation databases

EnsembliENST00000200181; ENSP00000200181; ENSG00000132470. [P16144-1]
ENST00000449880; ENSP00000400217; ENSG00000132470. [P16144-3]
ENST00000450894; ENSP00000405536; ENSG00000132470. [P16144-2]
ENST00000579662; ENSP00000463651; ENSG00000132470. [P16144-2]
GeneIDi3691.
KEGGihsa:3691.
UCSCiuc002jpg.3. human. [P16144-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X51841 mRNA. Translation: CAA36134.1.
X52186 mRNA. Translation: CAA36433.1.
X53587 mRNA. Translation: CAA37656.1. Frameshift.
U66541
, U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51634.1.
U66541
, U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51633.1.
U66541
, U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51632.1.
AC087749 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89305.1.
BC118916 mRNA. Translation: AAI18917.1.
BC126411 mRNA. Translation: AAI26412.1.
AJ251004, Y11107 Genomic DNA. Translation: CAB61345.1.
AF011375 mRNA. Translation: AAB65421.1.
AF011376 Genomic DNA. Translation: AAB65422.1.
CCDSiCCDS11727.1. [P16144-1]
CCDS32736.1. [P16144-3]
CCDS58599.1. [P16144-2]
PIRiJC5545.
S12380. A36429.
RefSeqiNP_000204.3. NM_000213.4. [P16144-1]
NP_001005619.1. NM_001005619.1. [P16144-3]
NP_001005731.1. NM_001005731.2. [P16144-2]
NP_001308052.1. NM_001321123.1. [P16144-2]
UniGeneiHs.632226.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1QG3X-ray2.15A/B1126-1320[»]
2YRZNMR-A1518-1622[»]
3F7PX-ray2.75C/D/E1126-1369[»]
3F7QX-ray1.75A/B1126-1355[»]
3F7RX-ray2.04A1126-1369[»]
3FQ4X-ray1.49A/B989-1107[»]
3FSOX-ray1.41A/B989-1107[»]
3H6AX-ray1.61A/B989-1107[»]
4Q58X-ray4.00C/D1126-1320[»]
4WTWX-ray1.61A/B1527-1618[»]
4WTXX-ray1.50A1642-1736[»]
ProteinModelPortaliP16144.
SMRiP16144.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109897. 32 interactors.
DIPiDIP-40182N.
IntActiP16144. 55 interactors.
MINTiMINT-5004072.
STRINGi9606.ENSP00000200181.

PTM databases

iPTMnetiP16144.
PhosphoSitePlusiP16144.
SwissPalmiP16144.

Polymorphism and mutation databases

BioMutaiITGB4.
DMDMi317373584.

Proteomic databases

EPDiP16144.
MaxQBiP16144.
PaxDbiP16144.
PeptideAtlasiP16144.
PRIDEiP16144.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000200181; ENSP00000200181; ENSG00000132470. [P16144-1]
ENST00000449880; ENSP00000400217; ENSG00000132470. [P16144-3]
ENST00000450894; ENSP00000405536; ENSG00000132470. [P16144-2]
ENST00000579662; ENSP00000463651; ENSG00000132470. [P16144-2]
GeneIDi3691.
KEGGihsa:3691.
UCSCiuc002jpg.3. human. [P16144-1]

Organism-specific databases

CTDi3691.
DisGeNETi3691.
GeneCardsiITGB4.
GeneReviewsiITGB4.
H-InvDBHIX0039036.
HGNCiHGNC:6158. ITGB4.
HPAiCAB002422.
CAB005258.
HPA036348.
HPA036349.
MalaCardsiITGB4.
MIMi147557. gene.
226650. phenotype.
226730. phenotype.
neXtProtiNX_P16144.
OpenTargetsiENSG00000132470.
Orphaneti158684. Epidermolysis bullosa simplex with pyloric atresia.
79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79403. Junctional epidermolysis bullosa - pyloric atresia.
251393. Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKBiPA29957.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1226. Eukaryota.
ENOG410XP60. LUCA.
GeneTreeiENSGT00760000119064.
HOGENOMiHOG000231105.
HOVERGENiHBG006189.
InParanoidiP16144.
KOiK06525.
OMAiEDDDCTY.
OrthoDBiEOG091G029W.
PhylomeDBiP16144.
TreeFamiTF105392.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000132470-MONOMER.
ReactomeiR-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-3000157. Laminin interactions.
R-HSA-3000170. Syndecan interactions.
R-HSA-446107. Type I hemidesmosome assembly.
SignaLinkiP16144.
SIGNORiP16144.

Miscellaneous databases

ChiTaRSiITGB4. human.
EvolutionaryTraceiP16144.
GeneWikiiITGB4.
GenomeRNAii3691.
PROiP16144.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132470.
CleanExiHS_ITGB4.
ExpressionAtlasiP16144. baseline and differential.
GenevisibleiP16144. HS.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 4 hits.
3.40.50.410. 1 hit.
InterProiIPR003644. Calx_beta.
IPR013032. EGF-like_CS.
IPR013111. EGF_extracell.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR033760. Integin_beta_N.
IPR015812. Integrin_bsu.
IPR012013. Integrin_bsu-4.
IPR012896. Integrin_bsu_tail.
IPR002369. Integrin_bsu_VWA.
IPR016201. PSI.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR10082. PTHR10082. 2 hits.
PTHR10082:SF42. PTHR10082:SF42. 2 hits.
PfamiPF03160. Calx-beta. 1 hit.
PF07974. EGF_2. 1 hit.
PF00041. fn3. 4 hits.
PF07965. Integrin_B_tail. 1 hit.
PF00362. Integrin_beta. 1 hit.
PF17205. PSI_integrin. 1 hit.
[Graphical view]
PIRSFiPIRSF002513. Integrin_B4. 1 hit.
PRINTSiPR01186. INTEGRINB.
SMARTiSM00237. Calx_beta. 1 hit.
SM00060. FN3. 4 hits.
SM00187. INB. 1 hit.
SM01242. Integrin_B_tail. 1 hit.
SM00423. PSI. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
SSF69687. SSF69687. 1 hit.
PROSITEiPS00022. EGF_1. 2 hits.
PS01186. EGF_2. 2 hits.
PS50853. FN3. 4 hits.
PS00243. INTEGRIN_BETA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiITB4_HUMAN
AccessioniPrimary (citable) accession number: P16144
Secondary accession number(s): A0AVL6
, O14690, O14691, O15339, O15340, O15341, Q0VF97, Q9UIQ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 215 of the entry and version 5 of the sequence. [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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.