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P16144 (ITB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 185. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Integrin beta-4
Alternative name(s):
GP150
CD_antigen=CD104
Gene names
Name:ITGB4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1822 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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-4ainteracts (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 junctionhemidesmosome. 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-4Dis also expressed in colon and placenta. Isoform beta-4Eis 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 processCell adhesion
   Cellular componentCell junction
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Epidermolysis bullosa
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionIntegrin
Receptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcell 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

extracellular matrix organization

Traceable author statement. Source: Reactome

filopodium assembly

Inferred from electronic annotation. Source: Ensembl

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_componentbasal plasma membrane

Inferred from electronic annotation. Source: Ensembl

basement membrane

Inferred from electronic annotation. Source: Ensembl

cell leading edge

Inferred from direct assay Ref.19. Source: UniProtKB

cell surface

Inferred from direct assay PubMed 21310825. Source: BHF-UCL

extracellular vesicular exosome

Inferred from direct assay PubMed 19199708. Source: UniProt

hemidesmosome

Inferred from direct assay Ref.15. Source: UniProtKB

integrin complex

Traceable author statement PubMed 7545057. Source: ProtInc

   Molecular_functionreceptor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Binary interactions

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Ref.11
Chain28 – 18221795Integrin beta-4
PRO_0000016346

Regions

Topological domain28 – 710683Extracellular Potential
Transmembrane711 – 73323Helical; Potential
Topological domain734 – 18221089Cytoplasmic Potential
Domain29 – 7345PSI
Domain131 – 329199VWFA
Repeat456 – 50247I
Repeat503 – 54240II
Repeat543 – 58139III
Repeat582 – 61938IV
Domain979 – 1084106Calx-beta
Domain1129 – 121890Fibronectin type-III 1
Domain1222 – 1321100Fibronectin type-III 2
Domain1530 – 162596Fibronectin type-III 3
Domain1643 – 173997Fibronectin type-III 4
Region456 – 619164Cysteine-rich tandem repeats

Amino acid modifications

Modified residue15301Phosphothreonine Ref.17
Glycosylation3271N-linked (GlcNAc...) Potential
Glycosylation4911N-linked (GlcNAc...) Potential
Glycosylation5791N-linked (GlcNAc...) Potential
Glycosylation6171N-linked (GlcNAc...) Potential
Glycosylation6951N-linked (GlcNAc...) Ref.16
Disulfide bond30 ↔ 455 By similarity
Disulfide bond38 ↔ 48 By similarity
Disulfide bond41 ↔ 72 By similarity
Disulfide bond51 ↔ 61 By similarity
Disulfide bond245 ↔ 288 By similarity
Disulfide bond424 ↔ 671 By similarity
Disulfide bond452 ↔ 457 By similarity
Disulfide bond468 ↔ 479 By similarity
Disulfide bond476 ↔ 512 By similarity
Disulfide bond481 ↔ 490 By similarity
Disulfide bond492 ↔ 503 By similarity
Disulfide bond518 ↔ 523 By similarity
Disulfide bond520 ↔ 551 By similarity
Disulfide bond525 ↔ 536 By similarity
Disulfide bond557 ↔ 562 By similarity
Disulfide bond564 ↔ 573 By similarity
Disulfide bond575 ↔ 582 By similarity
Disulfide bond596 ↔ 601 By similarity
Disulfide bond598 ↔ 648 By similarity
Disulfide bond603 ↔ 614 By similarity
Disulfide bond626 ↔ 635 By similarity
Disulfide bond632 ↔ 706 By similarity
Disulfide bond651 ↔ 680 By similarity

Natural variations

Alternative sequence851 – 964114LNEVY…LLVEA → VRTQELGLAGDVAERGLQAD LRCTQAPADQVPAAAQCREK ARPHHCGHSADGAPLGQAGP AEAYREAGGTEGLPRPQGGP RLLHPHCRPGRPGHGGVPGG RGAGGRTGAPLYPA in isoform Beta-4E.
VSP_002747
Alternative sequence965 – 1822858Missing in isoform Beta-4E.
VSP_002748
Alternative sequence1370 – 143970Missing in isoform Beta-4A, isoform Beta-4B and isoform Beta-4D.
VSP_002749
Alternative sequence15191H → HGLPPIWEHGRSRLPLSWAL GSRSRAQMKGFPPSRGPRDS IILAGRPAAPSWGP in isoform Beta-4B.
VSP_002750
Alternative sequence1678 – 16858CEMAQGGG → W in isoform Beta-4D.
VSP_002751
Natural variant381C → R in EB-PA; mild form. Ref.27
VAR_010652
Natural variant611C → Y in EB-PA; lethal form. Ref.24
VAR_004006
Natural variant981R → H. Ref.31
VAR_011292
Natural variant1311D → Y in EB-PA; lethal form. Ref.32
VAR_011293
Natural variant1561L → P in EB-PA; mild form. Ref.26
VAR_004007
Natural variant2451C → G in EB-PA; lethal form. Ref.25
VAR_004008
Natural variant2521R → C in EB-PA; mild form. Ref.24 Ref.32
VAR_004009
Natural variant2731G → D in EB-PA; lethal form. Ref.32
VAR_011294
Natural variant2831R → C in EB-PA. Ref.32
VAR_011295
Natural variant3251V → D in EB-PA. Ref.32
VAR_011296
Natural variant3361L → P in EB-PA; mild form. Ref.32
VAR_011297
Natural variant4781Q → H.
Corresponds to variant rs8079267 [ dbSNP | Ensembl ].
VAR_027803
Natural variant5621C → R in EB-PA; mild form. Ref.24
VAR_004010
Natural variant8441R → L. Ref.31
Corresponds to variant rs140819116 [ dbSNP | Ensembl ].
VAR_011298
Natural variant9311G → D in GABEB. Ref.29
VAR_011299
Natural variant12161H → Q. Ref.32
VAR_011300
Natural variant12251R → H in EB-PA; mild form. Ref.32
VAR_011301
Natural variant12811R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. Ref.15 Ref.24 Ref.28
VAR_004011
Natural variant17641T → S. Ref.4 Ref.5
Corresponds to variant rs1051486 [ dbSNP | Ensembl ].
VAR_055971
Natural variant17791L → P. Ref.1 Ref.2 Ref.4 Ref.5 Ref.7
Corresponds to variant rs871443 [ dbSNP | Ensembl ].
VAR_027804

Experimental info

Sequence conflict271Missing in CAB61345. Ref.5
Sequence conflict431R → Y AA sequence Ref.11
Sequence conflict461K → P AA sequence Ref.11
Sequence conflict621 – 70484IHPGL…VHKKK → STRASARTYAPACSARRGAP ARRRGARVRNATSRSRWWTS LREARRWWCAAPSGTRMTTA PTATPWKVTAPLGPTALSWC TRRR in CAB61345. Ref.5
Sequence conflict802 – 8043GFA → WLC in AAB65422. Ref.8
Sequence conflict1414 – 142916HGPPD…KGGSL → TAPRTTAARAGRAAAV in CAA37656. Ref.3
Sequence conflict17771Missing in CAB61345. Ref.5

Secondary structure

........................................................................... 1822
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform Beta-4C [UniParc].

Last modified January 11, 2011. Version 5.
Checksum: 09710FFBBD719469

FASTA1,822202,167
        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 

« Hide

Isoform Beta-4A [UniParc].

Checksum: 3C473AEFB8804093
Show »

FASTA1,752195,013
Isoform Beta-4B [UniParc].

Checksum: 95FEBEEBA6CA8268
Show »

FASTA1,805200,725
Isoform Beta-4D [UniParc].

Checksum: AA31D59C1019CFCD
Show »

FASTA1,745194,466
Isoform Beta-4E [UniParc].

Checksum: 498952C0EAC8EC62
Show »

FASTA964106,779

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X51841 mRNA. Translation: CAA36134.1.
X52186 mRNA. Translation: CAA36433.1.
X53587 mRNA. Translation: CAA37656.1. Frameshift.
U66541 expand/collapse EMBL AC list , U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51634.1.
U66541 expand/collapse EMBL AC list , U66530, U66531, U66532, U66533, U66534, U66535, U66536, U66537, U66538, U66539, U66540 Genomic DNA. Translation: AAC51633.1.
U66541 expand/collapse EMBL AC list , 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.
PIRJC5545.
A36429. S12380.
RefSeqNP_000204.3. NM_000213.3.
NP_001005619.1. NM_001005619.1.
NP_001005731.1. NM_001005731.1.
XP_005257367.1. XM_005257310.1.
XP_005257369.1. XM_005257312.1.
UniGeneHs.632226.

3D structure databases

PDBe
RCSB PDB
PDBj
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[»]
ProteinModelPortalP16144.
SMRP16144. Positions 989-1107, 1126-1339, 1519-1622.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109897. 17 interactions.
IntActP16144. 26 interactions.
MINTMINT-5004072.
STRING9606.ENSP00000200181.

PTM databases

PhosphoSiteP16144.

Polymorphism databases

DMDM13638154.

Proteomic databases

PaxDbP16144.
PRIDEP16144.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000200181; ENSP00000200181; ENSG00000132470. [P16144-1]
ENST00000339591; ENSP00000344079; ENSG00000132470. [P16144-3]
ENST00000449880; ENSP00000400217; ENSG00000132470. [P16144-3]
ENST00000450894; ENSP00000405536; ENSG00000132470. [P16144-2]
ENST00000579662; ENSP00000463651; ENSG00000132470. [P16144-2]
GeneID3691.
KEGGhsa:3691.
UCSCuc002jpg.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

CTD3691.
GeneCardsGC17P073717.
H-InvDBHIX0039036.
HGNCHGNC:6158. ITGB4.
HPACAB002422.
CAB005258.
MIM147557. gene.
226650. phenotype.
226730. phenotype.
neXtProtNX_P16144.
Orphanet158684. 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.
PharmGKBPA29957.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG303049.
HOGENOMHOG000231105.
HOVERGENHBG006189.
InParanoidP16144.
KOK06525.
OMATIIKEQA.
OrthoDBEOG7T7GSB.
PhylomeDBP16144.
TreeFamTF105392.

Enzyme and pathway databases

ReactomeREACT_111155. Cell-Cell communication.
REACT_118779. Extracellular matrix organization.
SignaLinkP16144.

Gene expression databases

ArrayExpressP16144.
BgeeP16144.
CleanExHS_ITGB4.
GenevestigatorP16144.

Family and domain databases

Gene3D2.60.40.10. 4 hits.
3.40.50.410. 1 hit.
InterProIPR003644. 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]
PANTHERPTHR10082. PTHR10082. 1 hit.
PTHR10082:SF6. PTHR10082:SF6. 1 hit.
PfamPF03160. 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]
PIRSFPIRSF002513. Integrin_B4. 1 hit.
PRINTSPR01186. INTEGRINB.
SMARTSM00237. Calx_beta. 1 hit.
SM00060. FN3. 4 hits.
SM00187. INB. 1 hit.
SM00423. PSI. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMSSF103575. SSF103575. 1 hit.
SSF49265. SSF49265. 2 hits.
SSF69687. SSF69687. 1 hit.
PROSITEPS00022. EGF_1. 2 hits.
PS01186. EGF_2. 2 hits.
PS50853. FN3. 4 hits.
PS00243. INTEGRIN_BETA. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSITGB4. human.
EvolutionaryTraceP16144.
GeneWikiITGB4.
GenomeRNAi3691.
NextBio14457.
PROP16144.
SOURCESearch...

Entry information

Entry nameITB4_HUMAN
AccessionPrimary (citable) accession number: P16144
Secondary accession number(s): A0AVL6 expand/collapse secondary AC list , O14690, O14691, O15339, O15340, O15341, Q9UIQ4
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 11, 2011
Last modified: March 19, 2014
This is version 185 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries