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P16144

- ITB4_HUMAN

UniProt

P16144 - ITB4_HUMAN

Protein

Integrin beta-4

Gene

ITGB4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 191 (01 Oct 2014)
      Sequence version 5 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility.2 Publications

    GO - Molecular functioni

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

    GO - Biological processi

    1. autophagy Source: UniProt
    2. cell adhesion Source: ProtInc
    3. cell junction assembly Source: Reactome
    4. cell-matrix adhesion Source: InterPro
    5. cell motility Source: UniProtKB
    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

    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.

    GO - Cellular componenti

    1. basal plasma membrane Source: Ensembl
    2. basement membrane Source: Ensembl
    3. cell leading edge Source: UniProtKB
    4. cell surface Source: UniProtKB
    5. extracellular vesicular exosome Source: UniProt
    6. hemidesmosome Source: UniProtKB
    7. integrin complex Source: ProtInc
    8. plasma membrane Source: UniProtKB
    9. receptor complex Source: MGI

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730]: An autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti38 – 381C → R in EB-PA; mild form. 1 Publication
    VAR_010652
    Natural varianti61 – 611C → Y in EB-PA; lethal form. 1 Publication
    VAR_004006
    Natural varianti131 – 1311D → Y in EB-PA; lethal form. 1 Publication
    VAR_011293
    Natural varianti156 – 1561L → P in EB-PA; mild form. 1 Publication
    VAR_004007
    Natural varianti245 – 2451C → G in EB-PA; lethal form. 1 Publication
    VAR_004008
    Natural varianti252 – 2521R → C in EB-PA; mild form. 2 Publications
    VAR_004009
    Natural varianti273 – 2731G → D in EB-PA; lethal form. 1 Publication
    VAR_011294
    Natural varianti283 – 2831R → C in EB-PA. 1 Publication
    VAR_011295
    Natural varianti325 – 3251V → D in EB-PA. 1 Publication
    VAR_011296
    Natural varianti336 – 3361L → P in EB-PA; mild form. 1 Publication
    VAR_011297
    Natural varianti562 – 5621C → R in EB-PA; mild form. 1 Publication
    VAR_004010
    Natural varianti1225 – 12251R → H in EB-PA; mild form. 1 Publication
    VAR_011301
    Natural varianti1281 – 12811R → W in EB-PA; mild form; abolishes interaction with PLEC and reduces interaction with COL17A1. 2 Publications
    VAR_004011
    Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti931 – 9311G → D in GABEB. 1 Publication
    VAR_011299

    Keywords - Diseasei

    Disease mutation, Epidermolysis bullosa

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

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

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi30 ↔ 455By similarity
    Disulfide bondi38 ↔ 48By similarity
    Disulfide bondi41 ↔ 72By similarity
    Disulfide bondi51 ↔ 61By similarity
    Disulfide bondi245 ↔ 288By similarity
    Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi424 ↔ 671By similarity
    Disulfide bondi452 ↔ 457By similarity
    Disulfide bondi468 ↔ 479By similarity
    Disulfide bondi476 ↔ 512By similarity
    Disulfide bondi481 ↔ 490By similarity
    Glycosylationi491 – 4911N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi492 ↔ 503By similarity
    Disulfide bondi518 ↔ 523By similarity
    Disulfide bondi520 ↔ 551By similarity
    Disulfide bondi525 ↔ 536By similarity
    Disulfide bondi557 ↔ 562By similarity
    Disulfide bondi564 ↔ 573By similarity
    Disulfide bondi575 ↔ 582By similarity
    Glycosylationi579 – 5791N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi596 ↔ 601By similarity
    Disulfide bondi598 ↔ 648By similarity
    Disulfide bondi603 ↔ 614By similarity
    Glycosylationi617 – 6171N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi626 ↔ 635By similarity
    Disulfide bondi632 ↔ 706By similarity
    Disulfide bondi651 ↔ 680By similarity
    Glycosylationi695 – 6951N-linked (GlcNAc...)1 Publication
    Modified residuei1530 – 15301Phosphothreonine1 Publication

    Post-translational modificationi

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

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

    Proteomic databases

    MaxQBiP16144.
    PaxDbiP16144.
    PRIDEiP16144.

    PTM databases

    PhosphoSiteiP16144.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    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

    1
    1822
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP16144.

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei711 – 73323HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Region

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

    Domaini

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

    Sequence similaritiesi

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

    Keywords - Domaini

    Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG303049.
    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.

    Experimental Info

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

    Natural variant

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

    Alternative sequence

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

    Sequence databases

    Select the link destinations:
    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]
    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...
    MobiDBi 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 ]
    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

    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: October 1, 2014
    This is version 191 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