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P16144

- ITB4_HUMAN

UniProt

P16144 - ITB4_HUMAN

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Protein

Integrin beta-4

Gene

ITGB4

Organism
Homo sapiens (Human)
Status
Reviewed - 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.2 Publications

GO - Molecular functioni

  1. G-protein coupled receptor binding Source: UniProtKB
  2. receptor activity Source: InterPro

GO - Biological processi

  1. amelogenesis Source: UniProtKB
  2. autophagy Source: UniProt
  3. cell adhesion Source: ProtInc
  4. cell junction assembly Source: Reactome
  5. cell-matrix adhesion Source: UniProtKB
  6. cell motility Source: UniProtKB
  7. digestive tract development Source: UniProtKB
  8. extracellular matrix organization Source: Reactome
  9. filopodium assembly Source: Ensembl
  10. hemidesmosome assembly Source: UniProtKB
  11. integrin-mediated signaling pathway Source: UniProtKB-KW
  12. mesodermal cell differentiation Source: UniProtKB
  13. nail development Source: UniProtKB
  14. renal system development Source: UniProtKB
  15. response to wounding Source: UniProtKB
  16. skin development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Integrin, Receptor

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

ReactomeiREACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_163942. Syndecan interactions.
REACT_169262. Laminin interactions.
REACT_20537. Type I hemidesmosome assembly.
SignaLinkiP16144.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:6158. ITGB4.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junctionhemidesmosome
Note: Colocalizes with DST at the leading edge of migrating keratinocytes.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 710683ExtracellularSequence AnalysisAdd
BLAST
Transmembranei711 – 73323HelicalSequence AnalysisAdd
BLAST
Topological domaini734 – 18221089CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. basal plasma membrane Source: Ensembl
  2. basement membrane Source: Ensembl
  3. cell leading edge Source: UniProtKB
  4. cell surface Source: UniProtKB
  5. extracellular vesicular exosome Source: UniProt
  6. hemidesmosome Source: UniProtKB
  7. integrin complex Source: ProtInc
  8. plasma membrane Source: UniProtKB
  9. 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) [MIM:226730]: An 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.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381C → R in EB-PA; mild form. 1 Publication
VAR_010652
Natural varianti61 – 611C → Y in EB-PA; lethal form. 1 Publication
VAR_004006
Natural varianti131 – 1311D → Y in EB-PA; lethal form. 1 Publication
VAR_011293
Natural varianti156 – 1561L → P in EB-PA; mild form. 1 Publication
VAR_004007
Natural varianti245 – 2451C → G in EB-PA; lethal form. 1 Publication
VAR_004008
Natural varianti252 – 2521R → C in EB-PA; mild form. 2 Publications
VAR_004009
Natural varianti273 – 2731G → D in EB-PA; lethal form. 1 Publication
VAR_011294
Natural varianti283 – 2831R → C in EB-PA. 1 Publication
VAR_011295
Natural varianti325 – 3251V → D in EB-PA. 1 Publication
VAR_011296
Natural varianti336 – 3361L → P in EB-PA; mild form. 1 Publication
VAR_011297
Natural varianti562 – 5621C → R in EB-PA; mild form. 1 Publication
VAR_004010
Natural varianti1225 – 12251R → H in EB-PA; mild form. 1 Publication
VAR_011301
Natural varianti1281 – 12811R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. 2 Publications
VAR_004011
Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti931 – 9311G → D in GABEB. 1 Publication
VAR_011299

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

MIMi226650. phenotype.
226730. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 27271 PublicationAdd
BLAST
Chaini28 – 18221795Integrin beta-4PRO_0000016346Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi30 ↔ 455By similarity
Disulfide bondi38 ↔ 48By similarity
Disulfide bondi41 ↔ 72By similarity
Disulfide bondi51 ↔ 61By similarity
Disulfide bondi245 ↔ 288By similarity
Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi424 ↔ 671By similarity
Disulfide bondi452 ↔ 457By similarity
Disulfide bondi468 ↔ 479By similarity
Disulfide bondi476 ↔ 512By similarity
Disulfide bondi481 ↔ 490By similarity
Glycosylationi491 – 4911N-linked (GlcNAc...)Sequence Analysis
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
Glycosylationi579 – 5791N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi596 ↔ 601By similarity
Disulfide bondi598 ↔ 648By similarity
Disulfide bondi603 ↔ 614By similarity
Glycosylationi617 – 6171N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi626 ↔ 635By similarity
Disulfide bondi632 ↔ 706By similarity
Disulfide bondi651 ↔ 680By similarity
Glycosylationi695 – 6951N-linked (GlcNAc...)1 Publication
Modified residuei1530 – 15301Phosphothreonine1 Publication

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

MaxQBiP16144.
PaxDbiP16144.
PRIDEiP16144.

PTM databases

PhosphoSiteiP16144.

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

BgeeiP16144.
CleanExiHS_ITGB4.
ExpressionAtlasiP16144. baseline and differential.
GenevestigatoriP16144.

Organism-specific databases

HPAiCAB002422.
CAB005258.

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 RAC1.4 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

Protein-protein interaction databases

BioGridi109897. 17 interactions.
IntActiP16144. 28 interactions.
MINTiMINT-5004072.
STRINGi9606.ENSP00000200181.

Structurei

Secondary structure

1
1822
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi990 – 9956Combined sources
Beta strandi997 – 10026Combined sources
Helixi1003 – 10053Combined sources
Beta strandi1006 – 101611Combined sources
Beta strandi1022 – 103312Combined sources
Turni1035 – 10373Combined sources
Beta strandi1043 – 10486Combined sources
Beta strandi1054 – 10618Combined sources
Beta strandi1076 – 108712Combined sources
Beta strandi1096 – 11038Combined sources
Beta strandi1131 – 11377Combined sources
Beta strandi1139 – 11413Combined sources
Beta strandi1143 – 11486Combined sources
Beta strandi1156 – 11638Combined sources
Helixi1168 – 11703Combined sources
Beta strandi1172 – 118312Combined sources
Beta strandi1191 – 120010Combined sources
Beta strandi1203 – 12075Combined sources
Beta strandi1211 – 12144Combined sources
Beta strandi1227 – 12304Combined sources
Beta strandi1232 – 12343Combined sources
Beta strandi1236 – 12394Combined sources
Beta strandi1252 – 12609Combined sources
Beta strandi1262 – 12643Combined sources
Beta strandi1266 – 12683Combined sources
Beta strandi1271 – 12755Combined sources
Beta strandi1282 – 12865Combined sources
Beta strandi1294 – 13029Combined sources
Beta strandi1310 – 13145Combined sources
Helixi1316 – 13183Combined sources
Beta strandi1334 – 13363Combined sources
Beta strandi1522 – 15243Combined sources
Beta strandi1543 – 15475Combined sources
Beta strandi1557 – 156913Combined sources
Beta strandi1572 – 15787Combined sources
Beta strandi1584 – 15896Combined sources
Beta strandi1595 – 160612Combined sources
Beta strandi1608 – 161710Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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[»]
ProteinModelPortaliP16144.
SMRiP16144. Positions 989-1107, 1126-1339, 1519-1622.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP16144.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 7345PSIAdd
BLAST
Domaini131 – 329199VWFAAdd
BLAST
Repeati456 – 50247IAdd
BLAST
Repeati503 – 54240IIAdd
BLAST
Repeati543 – 58139IIIAdd
BLAST
Repeati582 – 61938IVAdd
BLAST
Domaini979 – 1084106Calx-betaAdd
BLAST
Domaini1129 – 121890Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini1222 – 1321100Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini1530 – 162596Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini1643 – 173997Fibronectin type-III 4PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni456 – 619164Cysteine-rich tandem repeatsAdd
BLAST
Regioni732 – 74918Palmitoylated on several cysteinesAdd
BLAST

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

eggNOGiNOG303049.
GeneTreeiENSGT00760000119064.
HOGENOMiHOG000231105.
HOVERGENiHBG006189.
InParanoidiP16144.
KOiK06525.
OMAiTIIKEQA.
OrthoDBiEOG7T7GSB.
PhylomeDBiP16144.
TreeFamiTF105392.

Family and domain databases

Gene3Di2.60.40.10. 4 hits.
3.40.50.410. 1 hit.
InterProiIPR003644. Calx_beta.
IPR013032. EGF-like_CS.
IPR013111. EGF_extracell.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR015812. Integrin_bsu.
IPR012013. Integrin_bsu-4.
IPR002369. Integrin_bsu_N.
IPR012896. Integrin_bsu_tail.
IPR016201. Plexin-like_fold.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR10082. PTHR10082. 1 hit.
PTHR10082:SF6. PTHR10082:SF6. 1 hit.
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.
[Graphical view]
PIRSFiPIRSF002513. Integrin_B4. 1 hit.
PRINTSiPR01186. INTEGRINB.
SMARTiSM00237. Calx_beta. 1 hit.
SM00060. FN3. 4 hits.
SM00187. INB. 1 hit.
SM00423. PSI. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF103575. SSF103575. 1 hit.
SSF49265. 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. Align

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 CAA37656.1 differs from that shown. Reason: Frameshift at positions 1413 and 1429. Curated
The sequence CAA37656.1 differs from that shown. Reason: Frameshift at positions 1414 and 1429. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 271Missing in CAB61345. (PubMed:9166594)Curated
Sequence conflicti43 – 431R → Y AA sequence (PubMed:2542022)Curated
Sequence conflicti46 – 461K → P AA sequence (PubMed:2542022)Curated
Sequence conflicti621 – 70484IHPGL…VHKKK → STRASARTYAPACSARRGAP ARRRGARVRNATSRSRWWTS LREARRWWCAAPSGTRMTTA PTATPWKVTAPLGPTALSWC TRRR in CAB61345. (PubMed:9166594)CuratedAdd
BLAST
Sequence conflicti802 – 8043GFA → WLC in AAB65422. (PubMed:16625196)Curated
Sequence conflicti1414 – 142916HGPPD…KGGSL → TAPRTTAARAGRAAAV in CAA37656. (PubMed:1976638)CuratedAdd
BLAST
Sequence conflicti1755 – 17551P → L in AAI18917. (PubMed:15489334)Curated
Sequence conflicti1777 – 17771Missing in CAB61345. (PubMed:9166594)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381C → R in EB-PA; mild form. 1 Publication
VAR_010652
Natural varianti61 – 611C → Y in EB-PA; lethal form. 1 Publication
VAR_004006
Natural varianti98 – 981R → H.1 Publication
VAR_011292
Natural varianti131 – 1311D → Y in EB-PA; lethal form. 1 Publication
VAR_011293
Natural varianti156 – 1561L → P in EB-PA; mild form. 1 Publication
VAR_004007
Natural varianti245 – 2451C → G in EB-PA; lethal form. 1 Publication
VAR_004008
Natural varianti252 – 2521R → C in EB-PA; mild form. 2 Publications
VAR_004009
Natural varianti273 – 2731G → D in EB-PA; lethal form. 1 Publication
VAR_011294
Natural varianti283 – 2831R → C in EB-PA. 1 Publication
VAR_011295
Natural varianti325 – 3251V → D in EB-PA. 1 Publication
VAR_011296
Natural varianti336 – 3361L → P in EB-PA; mild form. 1 Publication
VAR_011297
Natural varianti478 – 4781Q → H.
Corresponds to variant rs8079267 [ dbSNP | Ensembl ].
VAR_027803
Natural varianti562 – 5621C → R in EB-PA; mild form. 1 Publication
VAR_004010
Natural varianti844 – 8441R → L.1 Publication
Corresponds to variant rs140819116 [ dbSNP | Ensembl ].
VAR_011298
Natural varianti931 – 9311G → D in GABEB. 1 Publication
VAR_011299
Natural varianti1216 – 12161H → Q.1 Publication
VAR_011300
Natural varianti1225 – 12251R → H in EB-PA; mild form. 1 Publication
VAR_011301
Natural varianti1281 – 12811R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. 2 Publications
VAR_004011
Natural varianti1764 – 17641T → S.2 Publications
Corresponds to variant rs1051486 [ dbSNP | Ensembl ].
VAR_055971
Natural varianti1779 – 17791L → P.6 Publications
Corresponds to variant rs871443 [ dbSNP | Ensembl ].
VAR_027804

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei851 – 964114LNEVY…LLVEA → VRTQELGLAGDVAERGLQAD LRCTQAPADQVPAAAQCREK ARPHHCGHSADGAPLGQAGP AEAYREAGGTEGLPRPQGGP RLLHPHCRPGRPGHGGVPGG RGAGGRTGAPLYPA in isoform Beta-4E. 1 PublicationVSP_002747Add
BLAST
Alternative sequencei965 – 1822858Missing in isoform Beta-4E. 1 PublicationVSP_002748Add
BLAST
Alternative sequencei1370 – 143970Missing in isoform Beta-4A, isoform Beta-4B and isoform Beta-4D. 4 PublicationsVSP_002749Add
BLAST
Alternative sequencei1519 – 15191H → HGLPPIWEHGRSRLPLSWAL GSRSRAQMKGFPPSRGPRDS IILAGRPAAPSWGP in isoform Beta-4B. 2 PublicationsVSP_002750
Alternative sequencei1678 – 16858CEMAQGGG → W in isoform Beta-4D. CuratedVSP_002751

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_000213.3. [P16144-1]
NP_001005619.1. NM_001005619.1. [P16144-3]
NP_001005731.1. NM_001005731.1. [P16144-2]
XP_005257369.1. XM_005257312.1. [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]
uc002jph.3. human. [P16144-2]
uc002jpj.3. human. [P16144-3]
uc010dgo.3. human. [P16144-4]
uc010dgp.1. human. [P16144-5]

Polymorphism databases

DMDMi317373584.

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 .
CCDSi CCDS11727.1. [P16144-1 ]
CCDS32736.1. [P16144-3 ]
CCDS58599.1. [P16144-2 ]
PIRi JC5545.
S12380. A36429.
RefSeqi NP_000204.3. NM_000213.3. [P16144-1 ]
NP_001005619.1. NM_001005619.1. [P16144-3 ]
NP_001005731.1. NM_001005731.1. [P16144-2 ]
XP_005257369.1. XM_005257312.1. [P16144-2 ]
UniGenei Hs.632226.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1QG3 X-ray 2.15 A/B 1126-1320 [» ]
2YRZ NMR - A 1518-1622 [» ]
3F7P X-ray 2.75 C/D/E 1126-1369 [» ]
3F7Q X-ray 1.75 A/B 1126-1355 [» ]
3F7R X-ray 2.04 A 1126-1369 [» ]
3FQ4 X-ray 1.49 A/B 989-1107 [» ]
3FSO X-ray 1.41 A/B 989-1107 [» ]
3H6A X-ray 1.61 A/B 989-1107 [» ]
4Q58 X-ray 4.00 C/D 1126-1320 [» ]
ProteinModelPortali P16144.
SMRi P16144. Positions 989-1107, 1126-1339, 1519-1622.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109897. 17 interactions.
IntActi P16144. 28 interactions.
MINTi MINT-5004072.
STRINGi 9606.ENSP00000200181.

PTM databases

PhosphoSitei P16144.

Polymorphism databases

DMDMi 317373584.

Proteomic databases

MaxQBi P16144.
PaxDbi P16144.
PRIDEi P16144.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000200181 ; ENSP00000200181 ; ENSG00000132470 . [P16144-1 ]
ENST00000449880 ; ENSP00000400217 ; ENSG00000132470 . [P16144-3 ]
ENST00000450894 ; ENSP00000405536 ; ENSG00000132470 . [P16144-2 ]
ENST00000579662 ; ENSP00000463651 ; ENSG00000132470 . [P16144-2 ]
GeneIDi 3691.
KEGGi hsa:3691.
UCSCi uc002jpg.3. human. [P16144-1 ]
uc002jph.3. human. [P16144-2 ]
uc002jpj.3. human. [P16144-3 ]
uc010dgo.3. human. [P16144-4 ]
uc010dgp.1. human. [P16144-5 ]

Organism-specific databases

CTDi 3691.
GeneCardsi GC17P073717.
GeneReviewsi ITGB4.
H-InvDB HIX0039036.
HGNCi HGNC:6158. ITGB4.
HPAi CAB002422.
CAB005258.
MIMi 147557. gene.
226650. phenotype.
226730. phenotype.
neXtProti NX_P16144.
Orphaneti 158684. 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.
PharmGKBi PA29957.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG303049.
GeneTreei ENSGT00760000119064.
HOGENOMi HOG000231105.
HOVERGENi HBG006189.
InParanoidi P16144.
KOi K06525.
OMAi TIIKEQA.
OrthoDBi EOG7T7GSB.
PhylomeDBi P16144.
TreeFami TF105392.

Enzyme and pathway databases

Reactomei REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_163942. Syndecan interactions.
REACT_169262. Laminin interactions.
REACT_20537. Type I hemidesmosome assembly.
SignaLinki P16144.

Miscellaneous databases

ChiTaRSi ITGB4. human.
EvolutionaryTracei P16144.
GeneWikii ITGB4.
GenomeRNAii 3691.
NextBioi 14457.
PROi P16144.
SOURCEi Search...

Gene expression databases

Bgeei P16144.
CleanExi HS_ITGB4.
ExpressionAtlasi P16144. baseline and differential.
Genevestigatori P16144.

Family and domain databases

Gene3Di 2.60.40.10. 4 hits.
3.40.50.410. 1 hit.
InterProi IPR003644. Calx_beta.
IPR013032. EGF-like_CS.
IPR013111. EGF_extracell.
IPR003961. Fibronectin_type3.
IPR013783. Ig-like_fold.
IPR015812. Integrin_bsu.
IPR012013. Integrin_bsu-4.
IPR002369. Integrin_bsu_N.
IPR012896. Integrin_bsu_tail.
IPR016201. Plexin-like_fold.
IPR002035. VWF_A.
[Graphical view ]
PANTHERi PTHR10082. PTHR10082. 1 hit.
PTHR10082:SF6. PTHR10082:SF6. 1 hit.
Pfami PF03160. Calx-beta. 1 hit.
PF07974. EGF_2. 1 hit.
PF00041. fn3. 4 hits.
PF07965. Integrin_B_tail. 1 hit.
PF00362. Integrin_beta. 1 hit.
[Graphical view ]
PIRSFi PIRSF002513. Integrin_B4. 1 hit.
PRINTSi PR01186. INTEGRINB.
SMARTi SM00237. Calx_beta. 1 hit.
SM00060. FN3. 4 hits.
SM00187. INB. 1 hit.
SM00423. PSI. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view ]
SUPFAMi SSF103575. SSF103575. 1 hit.
SSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
SSF69687. SSF69687. 1 hit.
PROSITEi PS00022. EGF_1. 2 hits.
PS01186. EGF_2. 2 hits.
PS50853. FN3. 4 hits.
PS00243. INTEGRIN_BETA. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells."
    Suzuki S., Naitoh Y.
    EMBO J. 9:757-763(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-4A), VARIANT PRO-1779.
  2. "Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain."
    Hogervorst F., Kuikman I., von Dem Borne A.E.G.K., Sonnenberg A.
    EMBO J. 9:765-770(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-4B), VARIANT PRO-1779.
  3. "Epithelial integrin alpha 6 beta 4: complete primary structure of alpha 6 and variant forms of beta 4."
    Tamura R.N., Rozzo C., Starr L., Chambers J., Reichardt L.F., Cooper H.M., Quaranta V.
    J. Cell Biol. 111:1593-1604(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-4C).
    Tissue: Pancreas.
  4. "Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia."
    Pulkkinen L., Kurtz K.S., Xu Y., Bruckner-Tuderman L., Uitto J.
    Lab. Invest. 76:823-833(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS BETA-4A; BETA-4B AND BETA-4C), VARIANTS SER-1764 AND PRO-1779.
  5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS BETA-4A; BETA-4B AND BETA-4C), VARIANTS SER-1764 AND PRO-1779.
    Tissue: Lung.
  6. D'Alessio M.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  7. "The unique cytoplasmic domain of the human integrin variant beta4E is produced by partial retention of intronic sequences."
    van Leusden M.R., Kuikman I., Sonnenberg A.
    Biochem. Biophys. Res. Commun. 235:826-830(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM BETA-4E), VARIANT PRO-1779.
  8. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM BETA-4A), VARIANT PRO-1779.
    Tissue: Cerebellum.
  11. "A novel integrin (alpha E beta 4) from human epithelial cells suggests a fourth family of integrin adhesion receptors."
    Kajiji S., Tamura R.N., Quaranta V.
    EMBO J. 8:673-680(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 28-46.
  12. "A novel structural variant of the human beta 4 integrin cDNA."
    Clarke A.S., Lotz M.M., Mercurio A.M.
    Cell Adhes. Commun. 2:1-6(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORM BETA-4D).
  13. "The N terminus of the transmembrane protein BP180 interacts with the N-terminal domain of BP230, thereby mediating keratin cytoskeleton anchorage to the cell surface at the site of the hemidesmosome."
    Hopkinson S.B., Jones J.C.
    Mol. Biol. Cell 11:277-286(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DSP.
  14. "The hemidesmosomal protein bullous pemphigoid antigen 1 and the integrin beta 4 subunit bind to ERBIN. Molecular cloning of multiple alternative splice variants of ERBIN and analysis of their tissue expression."
    Favre B., Fontao L., Koster J., Shafaatian R., Jaunin F., Saurat J.-H., Sonnenberg A., Borradori L.
    J. Biol. Chem. 276:32427-32436(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DST.
  15. "Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly."
    Koster J., Geerts D., Favre B., Borradori L., Sonnenberg A.
    J. Cell Sci. 116:387-399(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH COL17A1 AND DST, CHARACTERIZATION OF VARIANT TRP-1281, SUBCELLULAR LOCATION.
  16. "Palmitoylation supports assembly and function of integrin-tetraspanin complexes."
    Yang X., Kovalenko O.V., Tang W., Claas C., Stipp C.S., Hemler M.E.
    J. Cell Biol. 167:1231-1240(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION.
  17. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-695.
    Tissue: Plasma.
  18. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1530, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  20. "BPAG1e maintains keratinocyte polarity through beta4 integrin-mediated modulation of Rac1 and cofilin activities."
    Hamill K.J., Hopkinson S.B., DeBiase P., Jones J.C.
    Mol. Biol. Cell 20:2954-2962(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH RAC1, SUBCELLULAR LOCATION.
  21. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  22. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. "Palmitoylation by DHHC3 is critical for the function, expression, and stability of integrin alpha6beta4."
    Sharma C., Rabinovitz I., Hemler M.E.
    Cell. Mol. Life Sci. 69:2233-2244(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: PALMITOYLATION BY DHHC3, SUBCELLULAR LOCATION.
  24. "Crystal structure of a tandem pair of fibronectin type III domains from the cytoplasmic tail of integrin alpha6beta4."
    de Pereda J.M., Wiche G., Liddington R.C.
    EMBO J. 18:4087-4095(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.15 ANGSTROMS) OF 1126-1320.
  25. "Solution structure of the fibronectin type III domain of human integrin beta-4."
    RIKEN structural genomics initiative (RSGI)
    Submitted (APR-2008) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 1515-1622.
  26. "Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense."
    Pulkkinen L., Rouan F., Bruckner-Tuderman L., Wallerstein R., Garzon M., Brown T., Smith L., Carter W.G., Uitto J.
    Am. J. Hum. Genet. 63:1376-1387(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EB-PA TYR-61; CYS-252; ARG-562 AND TRP-1281.
  27. "Epidermolysis bullosa with pyloric atresia: novel mutations in the beta-4 integrin gene (ITGB4)."
    Pulkkinen L., Kim D.U., Uitto J.
    Am. J. Pathol. 152:157-166(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EB-PA GLY-245.
  28. "Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia."
    Pulkkinen L., Bruckner-Tuderman L., August C., Uitto J.
    Am. J. Pathol. 152:935-941(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EB-PA PRO-156.
  29. "Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease."
    Mellerio J.E., Pulkkinen L., McMillan J.R., Lake B.D., Horn H.M., Tidman M.J., Harper J.I., McGrath J.A., Uitto J., Eady R.A.J.
    Br. J. Dermatol. 139:862-871(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EB-PA ARG-38.
  30. "Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa."
    Kambham N., Tanji N., Seigle R.L., Markowitz G.S., Pulkkinen L., Uitto J., D'Agati V.D.
    Am. J. Kidney Dis. 36:190-196(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EB-PA TRP-1281.
  31. "A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?"
    Inoue M., Tamai K., Shimizu H., Owaribe K., Nakama T., Hashimoto T., McGrath J.A.
    J. Invest. Dermatol. 114:1061-1064(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GABEB ASP-931.
  32. "Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia."
    Ashton G.H.S., Sorelli P., Mellerio J.E., Keane F.M., Eady R.A.J., McGrath J.A.
    Br. J. Dermatol. 144:408-414(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EB-PA.
  33. "Nine novel single-nucleotide polymorphisms in the integrin beta4 (ITGB4) gene in the Japanese population."
    Hirano A., Nagai H., Harada H., Terada Y., Haga S., Kajiwara T., Emi M.
    J. Hum. Genet. 46:35-37(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HIS-98 AND LEU-844.
  34. "Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations."
    Nakano A., Pulkkinen L., Murrell D., Rico J., Lucky A.W., Garzon M., Stevens C.A., Robertson S., Pfendner E., Uitto J.
    Pediatr. Res. 49:618-626(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EB-PA TYR-131; CYS-252; ASP-273; CYS-283; ASP-325; PRO-336 AND HIS-1225, VARIANT GLN-1216.

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 26, 2014
This is version 193 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

External Data

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