P16144 (ITB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Integrin beta-4

Alternative name(s):
GP150
CD_antigen=CD104

Gene names

Name:

ITGB4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1822 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.15 Ref.19
Subunit structure	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. Ref.13 Ref.14 Ref.15 Ref.19
Subcellular location	Membrane; Single-pass type I membrane protein. Cell junction › hemidesmosome. Note: Colocalizes with DST at the leading edge of migrating keratinocytes. Ref.15 Ref.19
Tissue specificity	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.
Domain	The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230.
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.29
Sequence similarities	Belongs to the integrin beta chain family. Contains 1 Calx-beta domain. Contains 4 fibronectin type-III domains. Contains 1 PSI domain. Contains 1 VWFA domain.
Sequence caution	The sequence CAA37656.1 differs from that shown. Reason: Frameshift at positions 1413 and 1429. The sequence CAA37656.1 differs from that shown. Reason: Frameshift at positions 1414 and 1429.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell junction Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epidermolysis bullosa
Domain	Repeat Signal Transmembrane Transmembrane helix
Molecular function	Integrin Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Non-traceable author statement Ref.1. Source: ProtInc cell motility Inferred from mutant phenotype Ref.19. Source: UniProtKB cell-matrix adhesion Inferred from electronic annotation. Source: InterPro filopodium assembly Inferred from electronic annotation. Source: Compara hemidesmosome assembly Inferred from direct assay Ref.15. Source: UniProtKB integrin-mediated signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: InterPro response to wounding Inferred from direct assay Ref.19. Source: UniProtKB
Cellular_component	basal plasma membrane Inferred from electronic annotation. Source: Compara basement membrane Inferred from electronic annotation. Source: Compara cell leading edge Inferred from direct assay Ref.19. Source: UniProtKB cell surface Inferred from direct assay PubMed 21310825. Source: BHF-UCL hemidesmosome Inferred from direct assay Ref.15. Source: UniProtKB integrin complex Traceable author statement PubMed 7545057. Source: ProtInc
Molecular_function	receptor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ARRDC3	Q96B67	3	EBI-948678,EBI-2875665
Cadm1	Q8R5M8-2	3	EBI-948678,EBI-5651941	From a different organism.
ITGA6	P23229	3	EBI-948678,EBI-2436548

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform Beta-4C (identifier: P16144-1)

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.

Isoform Beta-4A (identifier: P16144-2)

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

Isoform Beta-4B (identifier: P16144-3)

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

Isoform Beta-4D (identifier: P16144-4)

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

Isoform Beta-4E (identifier: P16144-5)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 27

27

Ref.11

Chain

28 – 1822

1795

Integrin beta-4

PRO_0000016346

Regions

Topological domain

28 – 710

683

Extracellular Potential

Transmembrane

711 – 733

23

Helical; Potential

Topological domain

734 – 1822

1089

Cytoplasmic Potential

Domain

29 – 73

45

PSI

Domain

131 – 329

199

VWFA

Repeat

456 – 502

47

I

Repeat

503 – 542

40

II

Repeat

543 – 581

39

III

Repeat

582 – 619

38

IV

Domain

979 – 1084

106

Calx-beta

Domain

1126 – 1215

90

Fibronectin type-III 1

Domain

1220 – 1318

99

Fibronectin type-III 2

Domain

1528 – 1618

91

Fibronectin type-III 3

Domain

1641 – 1734

94

Fibronectin type-III 4

Region

456 – 619

164

Cysteine-rich tandem repeats

Amino acid modifications

Modified residue

1530

1

Phosphothreonine Ref.17

Glycosylation

327

1

N-linked (GlcNAc...) Potential

Glycosylation

491

1

N-linked (GlcNAc...) Potential

Glycosylation

579

1

N-linked (GlcNAc...) Potential

Glycosylation

617

1

N-linked (GlcNAc...) Potential

Glycosylation

695

1

N-linked (GlcNAc...) Ref.16

Disulfide bond

30 ↔ 455

By similarity

Disulfide bond

38 ↔ 48

By similarity

Disulfide bond

41 ↔ 72

By similarity

Disulfide bond

51 ↔ 61

By similarity

Disulfide bond

245 ↔ 288

By similarity

Disulfide bond

424 ↔ 671

By similarity

Disulfide bond

452 ↔ 457

By similarity

Disulfide bond

468 ↔ 479

By similarity

Disulfide bond

476 ↔ 512

By similarity

Disulfide bond

481 ↔ 490

By similarity

Disulfide bond

492 ↔ 503

By similarity

Disulfide bond

518 ↔ 523

By similarity

Disulfide bond

520 ↔ 551

By similarity

Disulfide bond

525 ↔ 536

By similarity

Disulfide bond

557 ↔ 562

By similarity

Disulfide bond

564 ↔ 573

By similarity

Disulfide bond

575 ↔ 582

By similarity

Disulfide bond

596 ↔ 601

By similarity

Disulfide bond

598 ↔ 648

By similarity

Disulfide bond

603 ↔ 614

By similarity

Disulfide bond

626 ↔ 635

By similarity

Disulfide bond

632 ↔ 706

By similarity

Disulfide bond

651 ↔ 680

By similarity

Natural variations

Alternative sequence

851 – 964

114

LNEVY…LLVEA → VRTQELGLAGDVAERGLQAD LRCTQAPADQVPAAAQCREK ARPHHCGHSADGAPLGQAGP AEAYREAGGTEGLPRPQGGP RLLHPHCRPGRPGHGGVPGG RGAGGRTGAPLYPA in isoform Beta-4E.

VSP_002747

Alternative sequence

965 – 1822

858

Missing in isoform Beta-4E.

VSP_002748

Alternative sequence

1370 – 1439

70

Missing in isoform Beta-4A, isoform Beta-4B and isoform Beta-4D.

VSP_002749

Alternative sequence

1519

1

H → HGLPPIWEHGRSRLPLSWAL GSRSRAQMKGFPPSRGPRDS IILAGRPAAPSWGP in isoform Beta-4B.

VSP_002750

Alternative sequence

1678 – 1685

8

CEMAQGGG → W in isoform Beta-4D.

VSP_002751

Natural variant

38

1

C → R in EB-PA; mild form. Ref.27

VAR_010652

Natural variant

61

1

C → Y in EB-PA; lethal form. Ref.24

VAR_004006

Natural variant

98

1

R → H. Ref.31

VAR_011292

Natural variant

131

1

D → Y in EB-PA; lethal form. Ref.32

VAR_011293

Natural variant

156

1

L → P in EB-PA; mild form. Ref.26

VAR_004007

Natural variant

245

1

C → G in EB-PA; lethal form. Ref.25

VAR_004008

Natural variant

252

1

R → C in EB-PA; mild form. Ref.24 Ref.32

VAR_004009

Natural variant

273

1

G → D in EB-PA; lethal form. Ref.32

VAR_011294

Natural variant

283

1

R → C in EB-PA. Ref.32

VAR_011295

Natural variant

325

1

V → D in EB-PA. Ref.32

VAR_011296

Natural variant

336

1

L → P in EB-PA; mild form. Ref.32

VAR_011297

Natural variant

478

1

Q → H.
Corresponds to variant rs8079267 [ dbSNP | Ensembl ].

VAR_027803

Natural variant

562

1

C → R in EB-PA; mild form. Ref.24

VAR_004010

Natural variant

844

1

R → L. Ref.31

VAR_011298

Natural variant

931

1

G → D in GABEB. Ref.29

VAR_011299

Natural variant

1216

1

H → Q. Ref.32

VAR_011300

Natural variant

1225

1

R → H in EB-PA; mild form. Ref.32

VAR_011301

Natural variant

1281

1

R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. Ref.15 Ref.24 Ref.28

VAR_004011

Natural variant

1764

1

T → S. Ref.4 Ref.5
Corresponds to variant rs1051486 [ dbSNP | Ensembl ].

VAR_055971

Natural variant

1779

1

L → P. Ref.1 Ref.2 Ref.4 Ref.5 Ref.7
Corresponds to variant rs871443 [ dbSNP | Ensembl ].

VAR_027804

Experimental info

Sequence conflict

27

1

Missing in CAB61345. Ref.5

Sequence conflict

43

1

R → Y AA sequence Ref.11

Sequence conflict

46

1

K → P AA sequence Ref.11

Sequence conflict

621 – 704

84

IHPGL…VHKKK → STRASARTYAPACSARRGAP ARRRGARVRNATSRSRWWTS LREARRWWCAAPSGTRMTTA PTATPWKVTAPLGPTALSWC TRRR in CAB61345. Ref.5

Sequence conflict

802 – 804

3

GFA → WLC in AAB65422. Ref.8

Sequence conflict

1414 – 1429

16

HGPPD…KGGSL → TAPRTTAARAGRAAAV in CAA37656. Ref.3

Sequence conflict

1777

1

Missing in CAB61345. Ref.5

Secondary structure

1

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1822

Helix Strand Turn

Details...

Beta strand

990 – 995

6

Beta strand

997 – 1002

6

Helix

1003 – 1005

3

Beta strand

1006 – 1016

11

Beta strand

1022 – 1033

12

Turn

1035 – 1037

3

Beta strand

1043 – 1048

6

Beta strand

1054 – 1061

8

Beta strand

1076 – 1087

12

Beta strand

1096 – 1103

8

Beta strand

1131 – 1137

7

Beta strand

1139 – 1141

3

Beta strand

1143 – 1148

6

Beta strand

1156 – 1163

8

Helix

1168 – 1170

3

Beta strand

1172 – 1183

12

Beta strand

1191 – 1200

10

Beta strand

1203 – 1207

5

Beta strand

1211 – 1214

4

Beta strand

1227 – 1230

4

Beta strand

1232 – 1234

3

Beta strand

1236 – 1239

4

Beta strand

1252 – 1260

9

Beta strand

1262 – 1264

3

Beta strand

1266 – 1268

3

Beta strand

1271 – 1275

5

Beta strand

1282 – 1286

5

Beta strand

1294 – 1302

9

Beta strand

1310 – 1314

5

Helix

1316 – 1318

3

Beta strand

1334 – 1336

3

Beta strand

1522 – 1524

3

Beta strand

1543 – 1547

5

Beta strand

1557 – 1569

13

Beta strand

1572 – 1578

7

Beta strand

1584 – 1589

6

Beta strand

1595 – 1606

12

Beta strand

1608 – 1617

10

Sequences

	Sequence		Length	Mass (Da)
	Isoform Beta-4C [UniParc]. Last modified January 11, 2011. Version 5. Checksum: 09710FFBBD719469	FASTA	1,822	202,167
	10 20 30 40 50 60 MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 70 80 90 100 110 120 CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 130 140 150 160 170 180 EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 190 200 210 220 230 240 PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 250 260 270 280 290 300 QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 310 320 330 340 350 360 TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 370 380 390 400 410 420 EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 430 440 450 460 470 480 THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 490 500 510 520 530 540 CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 550 560 570 580 590 600 FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 610 620 630 640 650 660 CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 670 680 690 700 710 720 LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 730 740 750 760 770 780 LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 790 800 810 820 830 840 SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 850 860 870 880 890 900 AQLRQEVEEN LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 910 920 930 940 950 960 LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI RPEDDDEKQL 970 980 990 1000 1010 1020 LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS VSRGDQVARI PVIRRVLDGG 1030 1040 1050 1060 1070 1080 KSQVSYRTQD GTAQGNRDYI PVEGELLFQP GEAWKELQVK LLELQEVDSL LRGRQVRRFH 1090 1100 1110 1120 1130 1140 VQLSNPKFGA HLGQPHSTTI IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS 1150 1160 1170 1180 1190 1200 RKIHFNWLPP SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 1210 1220 1230 1240 1250 1260 AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI TAYEVCYGLV 1270 1280 1290 1300 1310 1320 NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA RNGAGWGPER EAIINLATQP 1330 1340 1350 1360 1370 1380 KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS DDVLRSPSGS QRPSVSDDTG CGWKFEPLLG 1390 1400 1410 1420 1430 1440 EELDLRRVTW RLPPELIPRL SASSGRSSDA EAPHGPPDDG GAGGKGGSLP RSATPGPPGE 1450 1460 1470 1480 1490 1500 HLVNGRMDFA FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH 1510 1520 1530 1540 1550 1560 SHSTTLPRDY STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE PRCERPLQGY 1570 1580 1590 1600 1610 1620 SVEYQLLNGG ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV RAQSQEGWGR EREGVITIES 1630 1640 1650 1660 1670 1680 QVHPQSPLCP LPGSAFTLST PSAPGPLVFT ALSPDSLQLS WERPRRPNGD IVGYLVTCEM 1690 1700 1710 1720 1730 1740 AQGGGPATAF RVDGDSPESR LTVPGLSENV PYKFKVQART TEGFGPEREG IITIESQDGG 1750 1760 1770 1780 1790 1800 PFPQLGSRAG LFQHPLQSEY SSITTTHTSA TEPFLVDGLT LGAQHLEAGG SLTRHVTQEF 1810 1820 VSRTLTTSGT LSTHMDQQFF QT
	Isoform Beta-4A [UniParc]. Checksum: 3C473AEFB8804093	FASTA	1,752	195,013
	10 20 30 40 50 60 MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 70 80 90 100 110 120 CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 130 140 150 160 170 180 EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 190 200 210 220 230 240 PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 250 260 270 280 290 300 QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 310 320 330 340 350 360 TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 370 380 390 400 410 420 EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 430 440 450 460 470 480 THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 490 500 510 520 530 540 CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 550 560 570 580 590 600 FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 610 620 630 640 650 660 CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 670 680 690 700 710 720 LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 730 740 750 760 770 780 LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 790 800 810 820 830 840 SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 850 860 870 880 890 900 AQLRQEVEEN LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 910 920 930 940 950 960 LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI RPEDDDEKQL 970 980 990 1000 1010 1020 LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS VSRGDQVARI PVIRRVLDGG 1030 1040 1050 1060 1070 1080 KSQVSYRTQD GTAQGNRDYI PVEGELLFQP GEAWKELQVK LLELQEVDSL LRGRQVRRFH 1090 1100 1110 1120 1130 1140 VQLSNPKFGA HLGQPHSTTI IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS 1150 1160 1170 1180 1190 1200 RKIHFNWLPP SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 1210 1220 1230 1240 1250 1260 AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI TAYEVCYGLV 1270 1280 1290 1300 1310 1320 NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA RNGAGWGPER EAIINLATQP 1330 1340 1350 1360 1370 1380 KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS DDVLRSPSGS QRPSVSDDTE HLVNGRMDFA 1390 1400 1410 1420 1430 1440 FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH SHSTTLPRDY 1450 1460 1470 1480 1490 1500 STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE PRCERPLQGY SVEYQLLNGG 1510 1520 1530 1540 1550 1560 ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV RAQSQEGWGR EREGVITIES QVHPQSPLCP 1570 1580 1590 1600 1610 1620 LPGSAFTLST PSAPGPLVFT ALSPDSLQLS WERPRRPNGD IVGYLVTCEM AQGGGPATAF 1630 1640 1650 1660 1670 1680 RVDGDSPESR LTVPGLSENV PYKFKVQART TEGFGPEREG IITIESQDGG PFPQLGSRAG 1690 1700 1710 1720 1730 1740 LFQHPLQSEY SSITTTHTSA TEPFLVDGLT LGAQHLEAGG SLTRHVTQEF VSRTLTTSGT 1750 LSTHMDQQFF QT
	Isoform Beta-4B [UniParc]. Checksum: 95FEBEEBA6CA8268	FASTA	1,805	200,725
	10 20 30 40 50 60 MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 70 80 90 100 110 120 CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 130 140 150 160 170 180 EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 190 200 210 220 230 240 PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 250 260 270 280 290 300 QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 310 320 330 340 350 360 TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 370 380 390 400 410 420 EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 430 440 450 460 470 480 THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 490 500 510 520 530 540 CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 550 560 570 580 590 600 FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 610 620 630 640 650 660 CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 670 680 690 700 710 720 LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 730 740 750 760 770 780 LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 790 800 810 820 830 840 SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 850 860 870 880 890 900 AQLRQEVEEN LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 910 920 930 940 950 960 LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI RPEDDDEKQL 970 980 990 1000 1010 1020 LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS VSRGDQVARI PVIRRVLDGG 1030 1040 1050 1060 1070 1080 KSQVSYRTQD GTAQGNRDYI PVEGELLFQP GEAWKELQVK LLELQEVDSL LRGRQVRRFH 1090 1100 1110 1120 1130 1140 VQLSNPKFGA HLGQPHSTTI IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS 1150 1160 1170 1180 1190 1200 RKIHFNWLPP SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 1210 1220 1230 1240 1250 1260 AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI TAYEVCYGLV 1270 1280 1290 1300 1310 1320 NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA RNGAGWGPER EAIINLATQP 1330 1340 1350 1360 1370 1380 KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS DDVLRSPSGS QRPSVSDDTE HLVNGRMDFA 1390 1400 1410 1420 1430 1440 FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH SHSTTLPRDY 1450 1460 1470 1480 1490 1500 STLTSVSSHG LPPIWEHGRS RLPLSWALGS RSRAQMKGFP PSRGPRDSII LAGRPAAPSW 1510 1520 1530 1540 1550 1560 GPDSRLTAGV PDTPTRLVFS ALGPTSLRVS WQEPRCERPL QGYSVEYQLL NGGELHRLNI 1570 1580 1590 1600 1610 1620 PNPAQTSVVV EDLLPNHSYV FRVRAQSQEG WGREREGVIT IESQVHPQSP LCPLPGSAFT 1630 1640 1650 1660 1670 1680 LSTPSAPGPL VFTALSPDSL QLSWERPRRP NGDIVGYLVT CEMAQGGGPA TAFRVDGDSP 1690 1700 1710 1720 1730 1740 ESRLTVPGLS ENVPYKFKVQ ARTTEGFGPE REGIITIESQ DGGPFPQLGS RAGLFQHPLQ 1750 1760 1770 1780 1790 1800 SEYSSITTTH TSATEPFLVD GLTLGAQHLE AGGSLTRHVT QEFVSRTLTT SGTLSTHMDQ QFFQT
	Isoform Beta-4D [UniParc]. Checksum: AA31D59C1019CFCD	FASTA	1,745	194,466
	10 20 30 40 50 60 MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 70 80 90 100 110 120 CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 130 140 150 160 170 180 EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 190 200 210 220 230 240 PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 250 260 270 280 290 300 QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 310 320 330 340 350 360 TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 370 380 390 400 410 420 EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 430 440 450 460 470 480 THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 490 500 510 520 530 540 CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 550 560 570 580 590 600 FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 610 620 630 640 650 660 CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 670 680 690 700 710 720 LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 730 740 750 760 770 780 LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 790 800 810 820 830 840 SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 850 860 870 880 890 900 AQLRQEVEEN LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 910 920 930 940 950 960 LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI RPEDDDEKQL 970 980 990 1000 1010 1020 LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS VSRGDQVARI PVIRRVLDGG 1030 1040 1050 1060 1070 1080 KSQVSYRTQD GTAQGNRDYI PVEGELLFQP GEAWKELQVK LLELQEVDSL LRGRQVRRFH 1090 1100 1110 1120 1130 1140 VQLSNPKFGA HLGQPHSTTI IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS 1150 1160 1170 1180 1190 1200 RKIHFNWLPP SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 1210 1220 1230 1240 1250 1260 AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI TAYEVCYGLV 1270 1280 1290 1300 1310 1320 NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA RNGAGWGPER EAIINLATQP 1330 1340 1350 1360 1370 1380 KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS DDVLRSPSGS QRPSVSDDTE HLVNGRMDFA 1390 1400 1410 1420 1430 1440 FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH SHSTTLPRDY 1450 1460 1470 1480 1490 1500 STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE PRCERPLQGY SVEYQLLNGG 1510 1520 1530 1540 1550 1560 ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV RAQSQEGWGR EREGVITIES QVHPQSPLCP 1570 1580 1590 1600 1610 1620 LPGSAFTLST PSAPGPLVFT ALSPDSLQLS WERPRRPNGD IVGYLVTWPA TAFRVDGDSP 1630 1640 1650 1660 1670 1680 ESRLTVPGLS ENVPYKFKVQ ARTTEGFGPE REGIITIESQ DGGPFPQLGS RAGLFQHPLQ 1690 1700 1710 1720 1730 1740 SEYSSITTTH TSATEPFLVD GLTLGAQHLE AGGSLTRHVT QEFVSRTLTT SGTLSTHMDQ QFFQT
	Isoform Beta-4E [UniParc]. Checksum: 498952C0EAC8EC62	FASTA	964	106,779
	10 20 30 40 50 60 MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY CTDEMFRDRR 70 80 90 100 110 120 CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ MSPQGLRVRL RPGEERHFEL 130 140 150 160 170 180 EVFEPLESPV DLYILMDFSN SMSDDLDNLK KMGQNLARVL SQLTSDYTIG FGKFVDKVSV 190 200 210 220 230 240 PQTDMRPEKL KEPWPNSDPP FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL 250 260 270 280 290 300 QTAVCTRDIG WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 310 320 330 340 350 360 TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE DSSNIVELLE 370 380 390 400 410 420 EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI RRGEVGIYQV QLRALEHVDG 430 440 450 460 470 480 THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI ICDVCTCELQ KEVRSARCSF NGDFVCGQCV 490 500 510 520 530 540 CSEGWSGQTC NCSTGSLSDI QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN 550 560 570 580 590 600 FQCPRTSGFL CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 610 620 630 640 650 660 CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE CNFKVKMVDE 670 680 690 700 710 720 LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV HKKKDCPPGS FWWLIPLLLL 730 740 750 760 770 780 LLPLLALLLL LCWKYCACCK ACLALLPCCN RGHMVGFKED HYMLRENLMA SDHLDTPMLR 790 800 810 820 830 840 SGNLKGRDVV RWKVTNNMQR PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC 850 860 870 880 890 900 AQLRQEVEEN VRTQELGLAG DVAERGLQAD LRCTQAPADQ VPAAAQCREK ARPHHCGHSA 910 920 930 940 950 960 DGAPLGQAGP AEAYREAGGT EGLPRPQGGP RLLHPHCRPG RPGHGGVPGG RGAGGRTGAP LYPA

References

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[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]	"Genomic organization of the human integrin beta 4 gene." Iacovacci S., Gagnoux-Palacios L., Zambruno G., Meneguzzi G., D'Alessio M. Mamm. Genome 8:448-450(1997) [PubMed] [Europe PMC] [Abstract] 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]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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). 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]	"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, MASS SPECTROMETRY. Tissue: Plasma.
[17]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[18]	"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.
[19]	"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.
[20]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[21]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[22]	"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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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.
[27]	"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.
[28]	"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.
[29]	"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.
[30]	"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.
[31]	"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.
[32]	"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.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.
BC126411 mRNA. Translation: AAI26412.1.
AJ251004, Y11107 Genomic DNA. Translation: CAB61345.1.
AF011375 mRNA. Translation: AAB65421.1.
AF011376 Genomic DNA. Translation: AAB65422.1.

IPI

IPI00027422.
IPI00220845.
IPI00220846.
IPI00220847.
IPI00220848.

PIR

JC5545.
A36429. S12380.

RefSeq

NP_000204.3. NM_000213.3.
NP_001005619.1. NM_001005619.1.
NP_001005731.1. NM_001005731.1.

UniGene

Hs.632226.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

P16144.

SMR

P16144. Positions 989-1107, 1126-1339, 1519-1622.

ModBase

Search...

Protein-protein interaction databases

IntAct

P16144. 24 interactions.

MINT

MINT-5004072.

STRING

9606.ENSP00000200181.

PTM databases

PhosphoSite

P16144.

Polymorphism databases

DMDM

13638154.

Proteomic databases

PaxDb

P16144.

PRIDE

P16144.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000200181; ENSP00000200181; ENSG00000132470.
ENST00000339591; ENSP00000344079; ENSG00000132470.
ENST00000449880; ENSP00000400217; ENSG00000132470.
ENST00000450894; ENSP00000405536; ENSG00000132470.
ENST00000579662; ENSP00000463651; ENSG00000132470.

GeneID

3691.

KEGG

hsa:3691.

UCSC

uc002jpg.3. human.
uc002jpj.3. human.
uc010dgo.3. human.
uc010dgp.1. human.

Organism-specific databases

CTD

3691.

GeneCards

GC17P073717.

H-InvDB

HIX0039036.

HGNC

HGNC:6158. ITGB4.

HPA

CAB002422.
CAB005258.

MIM

147557. gene.
226650. phenotype.
226730. phenotype.

neXtProt

NX_P16144.

Orphanet

79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79403. Junctional epidermolysis bullosa - pyloric atresia.

PharmGKB

PA29957.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG303049.

HOGENOM

HOG000231105.

HOVERGEN

HBG006189.

InParanoid

P16144.

KO

K06525.

OMA

EDDDCTY.

PhylomeDB

P16144.

Enzyme and pathway databases

Pathway_Interaction_DB

a6b1_a6b4_integrin_pathway. a6b1 and a6b4 Integrin signaling.

Reactome

REACT_111102. Signal Transduction.
REACT_111155. Cell-Cell communication.
REACT_118779. Extracellular matrix organization.

Gene expression databases

Bgee

P16144.

CleanEx

HS_ITGB4.

Genevestigator

P16144.

GermOnline

ENSG00000132470. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 4 hits.

InterPro

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.
IPR003659. Plexin-like.
IPR016201. Plexin-like_fold.
IPR002035. VWF_A.
[Graphical view]

PANTHER

PTHR10082. PTHR10082. 1 hit.
PTHR10082:SF6. PTHR10082:SF6. 1 hit.

Pfam

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]

PIRSF

PIRSF002513. Integrin_B4. 1 hit.

PRINTS

PR01186. INTEGRINB.

SMART

SM00237. Calx_beta. 1 hit.
SM00060. FN3. 4 hits.
SM00187. INB. 1 hit.
SM00423. PSI. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]

SUPFAM

SSF49265. FN_III-like. 4 hits.
SSF69687. Integrin_bsu_tail. 1 hit.
SSF103575. Plexin-like_fold. 1 hit.

PROSITE

PS00022. EGF_1. 2 hits. Uncertain.
PS01186. EGF_2. 2 hits. Uncertain.
PS50853. FN3. 4 hits.
PS00243. INTEGRIN_BETA. 2 hits.
PS50234. VWFA. False negative.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

ITGB4. human.

EvolutionaryTrace

P16144.

GenomeRNAi

3691.

NextBio

14457.

SOURCE

Search...

Entry information

Entry name

ITB4_HUMAN

Accession

Primary (citable) accession number: P16144
Secondary accession number(s): A0AVL6 , O14690, O14691, O15339, O15340, O15341, Q9UIQ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 175 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.