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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. protein binding Source: UniProtKB
  2. receptor activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. autophagy Source: UniProt
  2. cell adhesion Source: ProtInc
  3. cell junction assembly Source: Reactome
  4. cell motility Source: UniProtKB
  5. cell-matrix adhesion Source: InterPro
  6. extracellular matrix organization Source: Reactome
  7. filopodium assembly Source: Ensembl
  8. hemidesmosome assembly Source: UniProtKB
  9. integrin-mediated signaling pathway Source: UniProtKB-KW
  10. multicellular organismal development Source: InterPro
  11. response to wounding 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.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 710683Extracellular Reviewed prediction
Add
BLAST
Transmembranei711 – 73323Helical; Reviewed prediction
Add
BLAST
Topological domaini734 – 18221089Cytoplasmic Reviewed prediction
Add
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: BHF-UCL
  5. extracellular vesicular exosome Source: UniProt
  6. hemidesmosome Source: UniProtKB
  7. integrin complex Source: ProtInc
  8. plasma membrane Source: BHF-UCL
  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.
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. 3 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 Publication
Add
BLAST
Chaini28 – 18221795Integrin beta-4
PRO_0000016346Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi30 ↔ 455 By similarity
Disulfide bondi38 ↔ 48 By similarity
Disulfide bondi41 ↔ 72 By similarity
Disulfide bondi51 ↔ 61 By similarity
Disulfide bondi245 ↔ 288 By similarity
Glycosylationi327 – 3271N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi424 ↔ 671 By similarity
Disulfide bondi452 ↔ 457 By similarity
Disulfide bondi468 ↔ 479 By similarity
Disulfide bondi476 ↔ 512 By similarity
Disulfide bondi481 ↔ 490 By similarity
Glycosylationi491 – 4911N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi492 ↔ 503 By similarity
Disulfide bondi518 ↔ 523 By similarity
Disulfide bondi520 ↔ 551 By similarity
Disulfide bondi525 ↔ 536 By similarity
Disulfide bondi557 ↔ 562 By similarity
Disulfide bondi564 ↔ 573 By similarity
Disulfide bondi575 ↔ 582 By similarity
Glycosylationi579 – 5791N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi596 ↔ 601 By similarity
Disulfide bondi598 ↔ 648 By similarity
Disulfide bondi603 ↔ 614 By similarity
Glycosylationi617 – 6171N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi626 ↔ 635 By similarity
Disulfide bondi632 ↔ 706 By similarity
Disulfide bondi651 ↔ 680 By 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

ArrayExpressiP16144.
BgeeiP16144.
CleanExiHS_ITGB4.
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. 27 interactions.
MINTiMINT-5004072.
STRINGi9606.ENSP00000200181.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
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[»]
ProteinModelPortaliP16144.
SMRiP16144. Positions 989-1107, 1126-1339, 1519-1622.

Miscellaneous databases

EvolutionaryTraceiP16144.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 7345PSI
Add
BLAST
Domaini131 – 329199VWFA
Add
BLAST
Repeati456 – 50247I
Add
BLAST
Repeati503 – 54240II
Add
BLAST
Repeati543 – 58139III
Add
BLAST
Repeati582 – 61938IV
Add
BLAST
Domaini979 – 1084106Calx-beta
Add
BLAST
Domaini1129 – 121890Fibronectin type-III 1
Add
BLAST
Domaini1222 – 1321100Fibronectin type-III 2
Add
BLAST
Domaini1530 – 162596Fibronectin type-III 3
Add
BLAST
Domaini1643 – 173997Fibronectin type-III 4
Add
BLAST

Region

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

Domaini

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

Sequence similaritiesi

Contains 1 Calx-beta domain.
Contains 1 PSI domain.
Contains 1 VWFA domain.

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG303049.
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

MAGPRPSPWA RLLLAALISV SLSGTLANRC KKAPVKSCTE CVRVDKDCAY     50
CTDEMFRDRR CNTQAELLAA GCQRESIVVM ESSFQITEET QIDTTLRRSQ 100
MSPQGLRVRL RPGEERHFEL EVFEPLESPV DLYILMDFSN SMSDDLDNLK 150
KMGQNLARVL SQLTSDYTIG FGKFVDKVSV PQTDMRPEKL KEPWPNSDPP 200
FSFKNVISLT EDVDEFRNKL QGERISGNLD APEGGFDAIL QTAVCTRDIG 250
WRPDSTHLLV FSTESAFHYE ADGANVLAGI MSRNDERCHL DTTGTYTQYR 300
TQDYPSVPTL VRLLAKHNII PIFAVTNYSY SYYEKLHTYF PVSSLGVLQE 350
DSSNIVELLE EAFNRIRSNL DIRALDSPRG LRTEVTSKMF QKTRTGSFHI 400
RRGEVGIYQV QLRALEHVDG THVCQLPEDQ KGNIHLKPSF SDGLKMDAGI 450
ICDVCTCELQ KEVRSARCSF NGDFVCGQCV CSEGWSGQTC NCSTGSLSDI 500
QPCLREGEDK PCSGRGECQC GHCVCYGEGR YEGQFCEYDN FQCPRTSGFL 550
CNDRGRCSMG QCVCEPGWTG PSCDCPLSNA TCIDSNGGIC NGRGHCECGR 600
CHCHQQSLYT DTICEINYSA IHPGLCEDLR SCVQCQAWGT GEKKGRTCEE 650
CNFKVKMVDE LKRAEEVVVR CSFRDEDDDC TYSYTMEGDG APGPNSTVLV 700
HKKKDCPPGS FWWLIPLLLL LLPLLALLLL LCWKYCACCK ACLALLPCCN 750
RGHMVGFKED HYMLRENLMA SDHLDTPMLR SGNLKGRDVV RWKVTNNMQR 800
PGFATHAASI NPTELVPYGL SLRLARLCTE NLLKPDTREC AQLRQEVEEN 850
LNEVYRQISG VHKLQQTKFR QQPNAGKKQD HTIVDTVLMA PRSAKPALLK 900
LTEKQVEQRA FHDLKVAPGY YTLTADQDAR GMVEFQEGVE LVDVRVPLFI 950
RPEDDDEKQL LVEAIDVPAG TATLGRRLVN ITIIKEQARD VVSFEQPEFS 1000
VSRGDQVARI PVIRRVLDGG KSQVSYRTQD GTAQGNRDYI PVEGELLFQP 1050
GEAWKELQVK LLELQEVDSL LRGRQVRRFH VQLSNPKFGA HLGQPHSTTI 1100
IIRDPDELDR SFTSQMLSSQ PPPHGDLGAP QNPNAKAAGS RKIHFNWLPP 1150
SGKPMGYRVK YWIQGDSESE AHLLDSKVPS VELTNLYPYC DYEMKVCAYG 1200
AQGEGPYSSL VSCRTHQEVP SEPGRLAFNV VSSTVTQLSW AEPAETNGEI 1250
TAYEVCYGLV NDDNRPIGPM KKVLVDNPKN RMLLIENLRE SQPYRYTVKA 1300
RNGAGWGPER EAIINLATQP KRPMSIPIIP DIPIVDAQSG EDYDSFLMYS 1350
DDVLRSPSGS QRPSVSDDTG CGWKFEPLLG EELDLRRVTW RLPPELIPRL 1400
SASSGRSSDA EAPHGPPDDG GAGGKGGSLP RSATPGPPGE HLVNGRMDFA 1450
FPGSTNSLHR MTTTSAAAYG THLSPHVPHR VLSTSSTLTR DYNSLTRSEH 1500
SHSTTLPRDY STLTSVSSHD SRLTAGVPDT PTRLVFSALG PTSLRVSWQE 1550
PRCERPLQGY SVEYQLLNGG ELHRLNIPNP AQTSVVVEDL LPNHSYVFRV 1600
RAQSQEGWGR EREGVITIES QVHPQSPLCP LPGSAFTLST PSAPGPLVFT 1650
ALSPDSLQLS WERPRRPNGD IVGYLVTCEM AQGGGPATAF RVDGDSPESR 1700
LTVPGLSENV PYKFKVQART TEGFGPEREG IITIESQDGG PFPQLGSRAG 1750
LFQHPLQSEY SSITTTHTSA TEPFLVDGLT LGAQHLEAGG SLTRHVTQEF 1800
VSRTLTTSGT LSTHMDQQFF QT 1822
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.
The sequence CAA37656.1 differs from that shown. Reason: Frameshift at positions 1414 and 1429.

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. 3 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.
VSP_002747Add
BLAST
Alternative sequencei965 – 1822858Missing in isoform Beta-4E.
VSP_002748Add
BLAST
Alternative sequencei1370 – 143970Missing in isoform Beta-4A, isoform Beta-4B and isoform Beta-4D.
VSP_002749Add
BLAST
Alternative sequencei1519 – 15191H → HGLPPIWEHGRSRLPLSWAL GSRSRAQMKGFPPSRGPRDS IILAGRPAAPSWGP in isoform Beta-4B.
VSP_002750
Alternative sequencei1678 – 16858CEMAQGGG → W in isoform Beta-4D.
VSP_002751

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti27 – 271Missing in CAB61345. 1 Publication
Sequence conflicti43 – 431R → Y AA sequence 1 Publication
Sequence conflicti46 – 461K → P AA sequence 1 Publication
Sequence conflicti621 – 70484IHPGL…VHKKK → STRASARTYAPACSARRGAP ARRRGARVRNATSRSRWWTS LREARRWWCAAPSGTRMTTA PTATPWKVTAPLGPTALSWC TRRR in CAB61345. 1 Publication
Add
BLAST
Sequence conflicti802 – 8043GFA → WLC in AAB65422. 1 Publication
Sequence conflicti1414 – 142916HGPPD…KGGSL → TAPRTTAARAGRAAAV in CAA37656. 1 Publication
Add
BLAST
Sequence conflicti1755 – 17551P → L in AAI18917. 1 Publication
Sequence conflicti1777 – 17771Missing in CAB61345. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
ENST00000339591; ENSP00000344079; ENSG00000132470. [P16144-3]
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:
EMBL
GenBank
DDBJ
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:
PDBe
RCSB PDB
PDBj
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 [» ]
ProteinModelPortali P16144.
SMRi P16144. Positions 989-1107, 1126-1339, 1519-1622.
ModBasei Search...

Protein-protein interaction databases

BioGridi 109897. 17 interactions.
IntActi P16144. 27 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 ]
ENST00000339591 ; ENSP00000344079 ; ENSG00000132470 . [P16144-3 ]
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.
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

ArrayExpressi P16144.
Bgeei P16144.
CleanExi HS_ITGB4.
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: September 3, 2014
This is version 190 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

Dasty 3

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