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Q8N2S1

- LTBP4_HUMAN

UniProt

Q8N2S1 - LTBP4_HUMAN

Protein

Latent-transforming growth factor beta-binding protein 4

Gene

LTBP4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extra cellular matrix (ECM) By similarity.By similarity

    GO - Molecular functioni

    1. calcium ion binding Source: UniProtKB
    2. glycosaminoglycan binding Source: UniProtKB
    3. integrin binding Source: UniProtKB
    4. protein binding Source: IntAct
    5. transforming growth factor beta-activated receptor activity Source: UniProtKB
    6. transforming growth factor beta binding Source: UniProtKB

    GO - Biological processi

    1. extracellular matrix organization Source: Reactome
    2. growth hormone secretion Source: UniProtKB
    3. multicellular organismal development Source: UniProtKB
    4. protein folding Source: UniProtKB
    5. regulation of cell differentiation Source: UniProtKB
    6. regulation of cell growth Source: UniProtKB
    7. regulation of proteolysis Source: UniProtKB
    8. regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
    9. transforming growth factor beta receptor signaling pathway Source: Ensembl

    Keywords - Ligandi

    Growth factor binding

    Enzyme and pathway databases

    ReactomeiREACT_150331. Molecules associated with elastic fibres.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Latent-transforming growth factor beta-binding protein 4
    Short name:
    LTBP-4
    Gene namesi
    Name:LTBP4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:6717. LTBP4.

    Subcellular locationi

    Secretedextracellular spaceextracellular matrix 2 Publications

    GO - Cellular componenti

    1. extracellular matrix Source: UniProt
    2. extracellular region Source: Reactome
    3. extracellular space Source: BHF-UCL
    4. extracellular vesicular exosome Source: UniProt
    5. proteinaceous extracellular matrix Source: UniProtKB

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Urban-Rifkin-Davis syndrome (URDS) [MIM:613177]: A syndrome characterized by disrupted pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial and dermal development. Clinical features include cutis laxa, mild cardiovascular lesions, respiratory distress with cystic and atelectatic changes in the lungs, and diverticulosis, tortuosity and stenosis at various levels of the intestinal tract. Craniofacial features include microretrognathia, flat midface, receding forehead and wide fontanelles.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti311 – 3111C → G in URDS. 1 Publication
    VAR_064153

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi613177. phenotype.
    Orphaneti221145. Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.
    98896. Duchenne muscular dystrophy.
    PharmGKBiPA30480.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Chaini28 – 16241597Latent-transforming growth factor beta-binding protein 4PRO_0000310964Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi153 ↔ 163PROSITE-ProRule annotation
    Disulfide bondi157 ↔ 169PROSITE-ProRule annotation
    Disulfide bondi171 ↔ 180PROSITE-ProRule annotation
    Glycosylationi352 – 3521N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi361 ↔ 372PROSITE-ProRule annotation
    Disulfide bondi367 ↔ 381PROSITE-ProRule annotation
    Disulfide bondi383 ↔ 396PROSITE-ProRule annotation
    Glycosylationi425 – 4251N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi549 ↔ 561PROSITE-ProRule annotation
    Disulfide bondi556 ↔ 570PROSITE-ProRule annotation
    Disulfide bondi572 ↔ 585PROSITE-ProRule annotation
    Disulfide bondi591 ↔ 603PROSITE-ProRule annotation
    Disulfide bondi598 ↔ 612PROSITE-ProRule annotation
    Disulfide bondi614 ↔ 627PROSITE-ProRule annotation
    Disulfide bondi633 ↔ 645PROSITE-ProRule annotation
    Disulfide bondi640 ↔ 654PROSITE-ProRule annotation
    Disulfide bondi656 ↔ 669PROSITE-ProRule annotation
    Disulfide bondi675 ↔ 687PROSITE-ProRule annotation
    Disulfide bondi682 ↔ 696PROSITE-ProRule annotation
    Disulfide bondi698 ↔ 707PROSITE-ProRule annotation
    Disulfide bondi714 ↔ 726PROSITE-ProRule annotation
    Disulfide bondi721 ↔ 735PROSITE-ProRule annotation
    Disulfide bondi737 ↔ 750PROSITE-ProRule annotation
    Disulfide bondi756 ↔ 768PROSITE-ProRule annotation
    Disulfide bondi763 ↔ 777PROSITE-ProRule annotation
    Disulfide bondi779 ↔ 792PROSITE-ProRule annotation
    Disulfide bondi838 ↔ 851PROSITE-ProRule annotation
    Disulfide bondi845 ↔ 860PROSITE-ProRule annotation
    Disulfide bondi862 ↔ 876PROSITE-ProRule annotation
    Disulfide bondi882 ↔ 894PROSITE-ProRule annotation
    Disulfide bondi888 ↔ 903PROSITE-ProRule annotation
    Disulfide bondi905 ↔ 918PROSITE-ProRule annotation
    Disulfide bondi924 ↔ 935PROSITE-ProRule annotation
    Disulfide bondi930 ↔ 944PROSITE-ProRule annotation
    Disulfide bondi946 ↔ 959PROSITE-ProRule annotation
    Disulfide bondi1053 ↔ 1065PROSITE-ProRule annotation
    Glycosylationi1055 – 10551N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1059 ↔ 1074PROSITE-ProRule annotation
    Disulfide bondi1076 ↔ 1089PROSITE-ProRule annotation
    Glycosylationi1200 – 12001N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1257 ↔ 1270PROSITE-ProRule annotation
    Disulfide bondi1265 ↔ 1279PROSITE-ProRule annotation
    Disulfide bondi1281 ↔ 1294PROSITE-ProRule annotation
    Disulfide bondi1300 ↔ 1312PROSITE-ProRule annotation
    Disulfide bondi1307 ↔ 1321PROSITE-ProRule annotation
    Disulfide bondi1323 ↔ 1336PROSITE-ProRule annotation
    Glycosylationi1339 – 13391N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1537 ↔ 1548PROSITE-ProRule annotation
    Disulfide bondi1543 ↔ 1557PROSITE-ProRule annotation
    Disulfide bondi1559 ↔ 1572PROSITE-ProRule annotation
    Disulfide bondi1578 ↔ 1593PROSITE-ProRule annotation
    Disulfide bondi1588 ↔ 1602PROSITE-ProRule annotation
    Disulfide bondi1604 ↔ 1617PROSITE-ProRule annotation

    Post-translational modificationi

    Contains hydroxylated asparagine residues.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ8N2S1.
    PaxDbiQ8N2S1.
    PRIDEiQ8N2S1.

    PTM databases

    PhosphoSiteiQ8N2S1.

    Expressioni

    Tissue specificityi

    Highly expressed in heart, skeletal muscle, pancreas, uterus, and small intestine. Weakly expressed in placenta and lung.2 Publications

    Developmental stagei

    Very low expression in fetal brain, liver, heart, spleen and thymus.1 Publication

    Gene expression databases

    ArrayExpressiQ8N2S1.
    BgeeiQ8N2S1.
    CleanExiHS_LTBP4.
    GenevestigatoriQ8N2S1.

    Organism-specific databases

    HPAiCAB015194.

    Interactioni

    Subunit structurei

    Forms part of the large latent transforming growth factor beta precursor complex; removal is essential for activation of complex. Interacts with LTBP1 and TGFB1. Binds to FBN1 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATXN7O152652EBI-947718,EBI-708350
    CACNA1AO005552EBI-947718,EBI-766279

    Protein-protein interaction databases

    BioGridi114009. 14 interactions.
    IntActiQ8N2S1. 31 interactions.
    MINTiMINT-2794871.
    STRINGi9606.ENSP00000311905.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N2S1.
    SMRiQ8N2S1. Positions 287-465, 551-1119, 1161-1337, 1527-1608.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini149 – 18133EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini287 – 33953TB 1Add
    BLAST
    Domaini357 – 39741EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini407 – 45953TB 2Add
    BLAST
    Domaini545 – 58642EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini587 – 62842EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini629 – 67042EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini671 – 70838EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini710 – 75142EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini752 – 79342EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini834 – 87744EGF-like 9; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini878 – 91942EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini920 – 96041EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1049 – 109042EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1181 – 123555TB 3Add
    BLAST
    Domaini1253 – 129543EGF-like 13; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1296 – 133742EGF-like 14; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1349 – 140254TB 4Add
    BLAST
    Domaini1533 – 157341EGF-like 15PROSITE-ProRule annotationAdd
    BLAST
    Domaini1574 – 161845EGF-like 16PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi478 – 56588Pro-richAdd
    BLAST
    Compositional biasi549 – 1118570Cys-richAdd
    BLAST
    Compositional biasi1119 – 117557Pro-richAdd
    BLAST
    Compositional biasi1407 – 149286Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the LTBP family.Curated
    Contains 16 EGF-like domains.PROSITE-ProRule annotation
    Contains 4 TB (TGF-beta binding) domains.Curated

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG261153.
    HOGENOMiHOG000293153.
    HOVERGENiHBG052370.
    InParanoidiQ8N2S1.
    KOiK08023.
    PhylomeDBiQ8N2S1.
    TreeFamiTF317514.

    Family and domain databases

    Gene3Di3.90.290.10. 5 hits.
    InterProiIPR026823. cEGF.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR017878. TB_dom.
    [Graphical view]
    PfamiPF12662. cEGF. 1 hit.
    PF07645. EGF_CA. 15 hits.
    PF00683. TB. 3 hits.
    [Graphical view]
    SMARTiSM00181. EGF. 4 hits.
    SM00179. EGF_CA. 16 hits.
    [Graphical view]
    SUPFAMiSSF57184. SSF57184. 6 hits.
    SSF57581. SSF57581. 4 hits.
    PROSITEiPS00010. ASX_HYDROXYL. 14 hits.
    PS00022. EGF_1. 2 hits.
    PS01186. EGF_2. 12 hits.
    PS50026. EGF_3. 15 hits.
    PS01187. EGF_CA. 17 hits.
    PS51364. TB. 4 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N2S1-1) [UniParc]FASTAAdd to Basket

    Also known as: LTBP-4L

    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

    MPRPGTSGRR PLLLVLLLPL FAAATSAASP SPSPSQVVEV PGVPSRPASV     50
    AVCRCCPGQT SRRSRCIRAF CRVRSCQPKK CAGPQRCLNP VPAVPSPSPS 100
    VRKRQVSLNW QPLTLQEARA LLKRRRPRGP GGRGLLRRRP PQRAPAGKAP 150
    VLCPLICHNG GVCVKPDRCL CPPDFAGKFC QLHSSGARPP APAVPGLTRS 200
    VYTMPLANHR DDEHGVASMV SVHVEHPQEA SVVVHQVERV SGPWEEADAE 250
    AVARAEAAAR AEAAAPYTVL AQSAPREDGY SDASGFGYCF RELRGGECAS 300
    PLPGLRTQEV CCRGAGLAWG VHDCQLCSER LGNSERVSAP DGPCPTGFER 350
    VNGSCEDVDE CATGGRCQHG ECANTRGGYT CVCPDGFLLD SSRSSCISQH 400
    VISEAKGPCF RVLRDGGCSL PILRNITKQI CCCSRVGKAW GRGCQLCPPF 450
    GSEGFREICP AGPGYHYSAS DLRYNTRPLG QEPPRVSLSQ PRTLPATSRP 500
    SAGFLPTHRL EPRPEPRPDP RPGPELPLPS IPAWTGPEIP ESGPSSGMCQ 550
    RNPQVCGPGR CISRPSGYTC ACDSGFRLSP QGTRCIDVDE CRRVPPPCAP 600
    GRCENSPGSF RCVCGPGFRA GPRAAECLDV DECHRVPPPC DLGRCENTPG 650
    SFLCVCPAGY QAAPHGASCQ DVDECTQSPG LCGRGACKNL PGSFRCVCPA 700
    GFRGSACEED VDECAQEPPP CGPGRCDNTA GSFHCACPAG FRSRGPGAPC 750
    QDVDECARSP PPCTYGRCEN TEGSFQCVCP MGFQPNTAGS ECEDVDECEN 800
    HLACPGQECV NSPGSFQCRT CPSGHHLHRG RCTDVDECSS GAPPCGPHGH 850
    CTNTEGSFRC SCAPGYRAPS GRPGPCADVN ECLEGDFCFP HGECLNTDGS 900
    FACTCAPGYR PGPRGASCLD VDECSEEDLC QSGICTNTDG SFECICPPGH 950
    RAGPDLASCL DVDECRERGP ALCGSQRCEN SPGSYRCVRD CDPGYHAGPE 1000
    GTCDDVDECQ EYGPEICGAQ RCENTPGSYR CTPACDPGYQ PTPGGGCQDV 1050
    DECRNRSFCG AHAVCQNLPG SFQCLCDQGY EGARDGRHCV DVNECETLQG 1100
    VCGAALCENV EGSFLCVCPN SPEEFDPMTG RCVPPRTSAG TFPGSQPQAP 1150
    ASPVLPARPP PPPLPRRPST PRQGPVGSGR RECYFDTAAP DACDNILARN 1200
    VTWQECCCTV GEGWGSGCRI QQCPGTETAE YQSLCPHGRG YLAPSGDLSL 1250
    RRDVDECQLF RDQVCKSGVC VNTAPGYSCY CSNGYYYHTQ RLECIDNDEC 1300
    ADEEPACEGG RCVNTVGSYH CTCEPPLVLD GSQRRCVSNE SQSLDDNLGV 1350
    CWQEVGADLV CSHPRLDRQA TYTECCCLYG EAWGMDCALC PAQDSDDFEA 1400
    LCNVLRPPAY SPPRPGGFGL PYEYGPDLGP PYQGLPYGPE LYPPPALPYD 1450
    PYPPPPGPFA RREAPYGAPR FDMPDFEDDG GPYGESEAPA PPGPGTRWPY 1500
    RSRDTRRSFP EPEEPPEGGS YAGSLAEPYE ELEAEECGIL DGCTNGRCVR 1550
    VPEGFTCRCF DGYRLDMTRM ACVDINECDE AEAASPLCVN ARCLNTDGSF 1600
    RCICRPGFAP THQPHHCAPA RPRA 1624
    Length:1,624
    Mass (Da):173,435
    Last modified:November 13, 2007 - v2
    Checksum:i75682D1F6E40657A
    GO
    Isoform 2 (identifier: Q8N2S1-2) [UniParc]FASTAAdd to Basket

    Also known as: LTBP-4S

    The sequence of this isoform differs from the canonical sequence as follows:
         1-67: Missing.
         68-151: RAFCRVRSCQ...QRAPAGKAPV → MAGGVRLLWV...APGGPGFRAF

    Show »
    Length:1,557
    Mass (Da):165,742
    Checksum:i3F2995909633F6D0
    GO
    Isoform 3 (identifier: Q8N2S1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-68: MPRPGTSGRR...QTSRRSRCIR → MGDVKALLFVVAARARRLGGAAASESLAVSE

    Show »
    Length:1,587
    Mass (Da):169,484
    Checksum:iD7675F3B239B3D39
    GO
    Isoform 4 (identifier: Q8N2S1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-902: Missing.
         903-919: CTCAPGYRPGPRGASCL → MLGGAGGGPGLRTPCPA
         1007-1092: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:636
    Mass (Da):68,525
    Checksum:i0CAA11F48CB0C133
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti170 – 1701L → F in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti346 – 3461T → A in BAC11024. (PubMed:14702039)Curated
    Sequence conflicti526 – 5261L → F in AAC39879. (PubMed:9660815)Curated
    Sequence conflicti526 – 5261L → F in AAC39880. (PubMed:9660815)Curated
    Sequence conflicti686 – 6861A → G in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti974 – 9741G → R in BAC11024. (PubMed:14702039)Curated
    Sequence conflicti1139 – 11391A → V in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1142 – 11421F → S in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1151 – 11511A → V in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1165 – 11651P → S in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1169 – 11702ST → RK in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1173 – 11731Q → K in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1180 – 11801R → C in CAA73944. (PubMed:9271198)Curated
    Sequence conflicti1402 – 14021C → R in BAC11024. (PubMed:14702039)Curated
    Sequence conflicti1512 – 15121P → S in BAC11024. (PubMed:14702039)Curated
    Sequence conflicti1546 – 15461G → D in CAA73944. (PubMed:9271198)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti194 – 1941V → I.1 Publication
    Corresponds to variant rs2303729 [ dbSNP | Ensembl ].
    VAR_037119
    Natural varianti311 – 3111C → G in URDS. 1 Publication
    VAR_064153
    Natural varianti635 – 6351R → G.
    Corresponds to variant rs33937741 [ dbSNP | Ensembl ].
    VAR_037120
    Natural varianti679 – 6791P → A.
    Corresponds to variant rs34299942 [ dbSNP | Ensembl ].
    VAR_037121
    Natural varianti787 – 7871T → A.1 Publication
    Corresponds to variant rs1131620 [ dbSNP | Ensembl ].
    VAR_037122
    Natural varianti820 – 8201T → A.1 Publication
    Corresponds to variant rs1051303 [ dbSNP | Ensembl ].
    VAR_037123
    Natural varianti1141 – 11411T → M.2 Publications
    Corresponds to variant rs10880 [ dbSNP | Ensembl ].
    VAR_037124

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 902902Missing in isoform 4. 1 PublicationVSP_029362Add
    BLAST
    Alternative sequencei1 – 6868MPRPG…SRCIR → MGDVKALLFVVAARARRLGG AAASESLAVSE in isoform 3. 1 PublicationVSP_029363Add
    BLAST
    Alternative sequencei1 – 6767Missing in isoform 2. 1 PublicationVSP_029364Add
    BLAST
    Alternative sequencei68 – 15184RAFCR…GKAPV → MAGGVRLLWVSLLVLLAQLG PQPGLGRLGERLRVRFTPVV CGLRCVHGPTGSRCTPTCAP RNATSVDSGAPGGAAPGGPG FRAF in isoform 2. 1 PublicationVSP_029365Add
    BLAST
    Alternative sequencei903 – 91917CTCAP…GASCL → MLGGAGGGPGLRTPCPA in isoform 4. 1 PublicationVSP_029366Add
    BLAST
    Alternative sequencei1007 – 109286Missing in isoform 4. 1 PublicationVSP_029367Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y13622 mRNA. Translation: CAA73944.1.
    AF051344 mRNA. Translation: AAC39879.2.
    AF051345 mRNA. Translation: AAC39880.2.
    AK074499 mRNA. Translation: BAC11024.1.
    AC010412 Genomic DNA. No translation available.
    RefSeqiNP_001036009.1. NM_001042544.1. [Q8N2S1-1]
    NP_001036010.1. NM_001042545.1. [Q8N2S1-2]
    NP_003564.2. NM_003573.2.
    UniGeneiHs.466766.

    Genome annotation databases

    EnsembliENST00000308370; ENSP00000311905; ENSG00000090006.
    GeneIDi8425.
    KEGGihsa:8425.
    UCSCiuc002oog.1. human. [Q8N2S1-3]
    uc002ooh.1. human. [Q8N2S1-1]
    uc002ooi.1. human. [Q8N2S1-2]
    uc002ooj.1. human. [Q8N2S1-4]

    Polymorphism databases

    DMDMi160410003.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y13622 mRNA. Translation: CAA73944.1 .
    AF051344 mRNA. Translation: AAC39879.2 .
    AF051345 mRNA. Translation: AAC39880.2 .
    AK074499 mRNA. Translation: BAC11024.1 .
    AC010412 Genomic DNA. No translation available.
    RefSeqi NP_001036009.1. NM_001042544.1. [Q8N2S1-1 ]
    NP_001036010.1. NM_001042545.1. [Q8N2S1-2 ]
    NP_003564.2. NM_003573.2.
    UniGenei Hs.466766.

    3D structure databases

    ProteinModelPortali Q8N2S1.
    SMRi Q8N2S1. Positions 287-465, 551-1119, 1161-1337, 1527-1608.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114009. 14 interactions.
    IntActi Q8N2S1. 31 interactions.
    MINTi MINT-2794871.
    STRINGi 9606.ENSP00000311905.

    PTM databases

    PhosphoSitei Q8N2S1.

    Polymorphism databases

    DMDMi 160410003.

    Proteomic databases

    MaxQBi Q8N2S1.
    PaxDbi Q8N2S1.
    PRIDEi Q8N2S1.

    Protocols and materials databases

    DNASUi 8425.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308370 ; ENSP00000311905 ; ENSG00000090006 .
    GeneIDi 8425.
    KEGGi hsa:8425.
    UCSCi uc002oog.1. human. [Q8N2S1-3 ]
    uc002ooh.1. human. [Q8N2S1-1 ]
    uc002ooi.1. human. [Q8N2S1-2 ]
    uc002ooj.1. human. [Q8N2S1-4 ]

    Organism-specific databases

    CTDi 8425.
    GeneCardsi GC19P041099.
    HGNCi HGNC:6717. LTBP4.
    HPAi CAB015194.
    MIMi 604710. gene.
    613177. phenotype.
    neXtProti NX_Q8N2S1.
    Orphaneti 221145. Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.
    98896. Duchenne muscular dystrophy.
    PharmGKBi PA30480.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261153.
    HOGENOMi HOG000293153.
    HOVERGENi HBG052370.
    InParanoidi Q8N2S1.
    KOi K08023.
    PhylomeDBi Q8N2S1.
    TreeFami TF317514.

    Enzyme and pathway databases

    Reactomei REACT_150331. Molecules associated with elastic fibres.

    Miscellaneous databases

    ChiTaRSi LTBP4. human.
    GenomeRNAii 8425.
    NextBioi 31524.
    PROi Q8N2S1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N2S1.
    Bgeei Q8N2S1.
    CleanExi HS_LTBP4.
    Genevestigatori Q8N2S1.

    Family and domain databases

    Gene3Di 3.90.290.10. 5 hits.
    InterProi IPR026823. cEGF.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR017878. TB_dom.
    [Graphical view ]
    Pfami PF12662. cEGF. 1 hit.
    PF07645. EGF_CA. 15 hits.
    PF00683. TB. 3 hits.
    [Graphical view ]
    SMARTi SM00181. EGF. 4 hits.
    SM00179. EGF_CA. 16 hits.
    [Graphical view ]
    SUPFAMi SSF57184. SSF57184. 6 hits.
    SSF57581. SSF57581. 4 hits.
    PROSITEi PS00010. ASX_HYDROXYL. 14 hits.
    PS00022. EGF_1. 2 hits.
    PS01186. EGF_2. 12 hits.
    PS50026. EGF_3. 15 hits.
    PS01187. EGF_CA. 17 hits.
    PS51364. TB. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Sequence and expression of a novel member (LTBP-4) of the family of latent transforming growth factor-beta binding proteins."
      Giltay R., Kostka G., Timpl R.
      FEBS Lett. 411:164-168(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, VARIANT MET-1141.
    2. "Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4."
      Saharinen J., Taipale J., Monni O., Keski-Oja J.
      J. Biol. Chem. 273:18459-18469(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INTERACTION WITH LTBP1 AND TGFB1, VARIANTS ILE-194; ALA-787; ALA-820 AND MET-1141.
      Tissue: Heart.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Embryo.
    4. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Sequential deposition of latent TGF-beta binding proteins (LTBPs) during formation of the extracellular matrix in human lung fibroblasts."
      Koli K., Hyytieainen M., Ryynanen M.J., Keski-Oja J.
      Exp. Cell Res. 310:370-382(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. "Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development."
      Urban Z., Hucthagowder V., Schuermann N., Todorovic V., Zilberberg L., Choi J., Sens C., Brown C.W., Clark R.D., Holland K.E., Marble M., Sakai L.Y., Dabovic B., Rifkin D.B., Davis E.C.
      Am. J. Hum. Genet. 85:593-605(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT URDS GLY-311.

    Entry informationi

    Entry nameiLTBP4_HUMAN
    AccessioniPrimary (citable) accession number: Q8N2S1
    Secondary accession number(s): O00508, O75412, O75413
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 111 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3