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    LTBP1 latent transforming growth factor beta binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 4052, updated on 3-Sep-2017
    Official Symbol
    LTBP1provided by HGNC
    Official Full Name
    latent transforming growth factor beta binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:6714
    See related
    Ensembl:ENSG00000049323 MIM:150390; Vega:OTTHUMG00000152118
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2p22.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (32947129..33399509)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (33172221..33624576)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 486 Neighboring gene uncharacterized LOC105374453 Neighboring gene uncharacterized LOC100271832 Neighboring gene tRNA-yW synthesizing protein 1 homolog pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 91 Neighboring gene RNA, 5S ribosomal pseudogene 92 Neighboring gene microRNA 4430 Neighboring gene RAS guanyl releasing protein 3 Neighboring gene uncharacterized LOC105374454

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Identification of 15 loci influencing height in a Korean population.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
      Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
      Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
    • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC163161

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    microfibril binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    aorta development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    sequestering of TGFbeta in extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    transmembrane receptor protein serine/threonine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    latent-transforming growth factor beta-binding protein 1
    Names
    LTBP-1
    TGF-beta1-BP-1
    transforming growth factor beta-1-binding protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_000627.3NP_000618.3  latent-transforming growth factor beta-binding protein 1 isoform LTBP-1S precursor

      See identical proteins and their annotated locations for NP_000618.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (LTBP-1S) contains a shorter and distinct N-terminus, compared to isoform LTBP-1L.
      Source sequence(s)
      AA935267, AB208801, BC130289, BM147075
      Consensus CDS
      CCDS33178.2
      UniProtKB/Swiss-Prot
      Q14766
      Related
      ENSP00000384091.1, OTTHUMP00000201281, ENST00000407925.5, OTTHUMT00000325420
      Conserved Domains (5) summary
      smart00179
      Location:876917
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:363398
      TB; TB domain
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:570592
      cEGF; Complement Clr-like EGF-like
    2. NM_001166264.1NP_001159736.1  latent-transforming growth factor beta-binding protein 1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform LTBP-1L.
      Source sequence(s)
      AA935267, AB208801, AC019195, BC144128, BM147075
      Consensus CDS
      CCDS54344.1
      UniProtKB/Swiss-Prot
      Q14766
      UniProtKB/TrEMBL
      B7ZLY3
      Related
      ENSP00000393057.2, ENST00000418533.6
      Conserved Domains (5) summary
      smart00179
      Location:876917
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:672705
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:363398
      TB; TB domain
      pfam07645
      Location:589629
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:570592
      cEGF; Complement Clr-like EGF-like
    3. NM_001166265.1NP_001159737.1  latent-transforming growth factor beta-binding protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001159737.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform LTBP-1L.
      Source sequence(s)
      AA935267, AB208801, AC019127, AC019195, BM147075
      Consensus CDS
      CCDS54345.1
      UniProtKB/Swiss-Prot
      Q14766
      Related
      ENSP00000385359.1, OTTHUMP00000201218, ENST00000404525.5, OTTHUMT00000325298
      Conserved Domains (4) summary
      smart00179
      Location:823864
      EGF_CA; Calcium-binding EGF-like domain
      pfam00683
      Location:363397
      TB; TB domain
      pfam07645
      Location:536576
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:517539
      cEGF; Complement Clr-like EGF-like
    4. NM_001166266.1NP_001159738.1  latent-transforming growth factor beta-binding protein 1 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform LTBP-1L.
      Source sequence(s)
      AA935267, AB208801, AC019127, AC019195, BC144127, BM147075
      UniProtKB/Swiss-Prot
      Q14766
      Conserved Domains (4) summary
      smart00179
      Location:823864
      EGF_CA; Calcium-binding EGF-like domain
      pfam00683
      Location:363397
      TB; TB domain
      pfam07645
      Location:536576
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:517539
      cEGF; Complement Clr-like EGF-like
    5. NM_206943.2NP_996826.2  latent-transforming growth factor beta-binding protein 1 isoform LTBP-1L precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (LTBP-1L). There are no full-length transcripts representing this variant in human, but it is supported by overlapping partial transcripts, full-length homologous rat and mouse transcripts, and data in PMID:8537398.
      Source sequence(s)
      AA935267, AB208801, AL133244, BC130289, CD657511, DR001861
      Consensus CDS
      CCDS33177.2
      UniProtKB/Swiss-Prot
      Q14766
      Related
      ENSP00000386043.2, OTTHUMP00000201676, ENST00000404816.6, OTTHUMT00000326227
      Conserved Domains (5) summary
      smart00179
      Location:12021243
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9981031
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:915955
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:896918
      cEGF; Complement Clr-like EGF-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      32947129..33399509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532853.2XP_011531155.1  latent-transforming growth factor beta-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q14766
      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    2. XM_011532857.2XP_011531159.1  latent-transforming growth factor beta-binding protein 1 isoform X5

      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    3. XM_011532861.2XP_011531163.1  latent-transforming growth factor beta-binding protein 1 isoform X12

      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    4. XM_011532856.2XP_011531158.1  latent-transforming growth factor beta-binding protein 1 isoform X3

      Conserved Domains (4) summary
      smart00179
      Location:11631204
      EGF_CA; Calcium-binding EGF-like domain
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like
    5. XM_011532858.2XP_011531160.1  latent-transforming growth factor beta-binding protein 1 isoform X6

      Conserved Domains (4) summary
      smart00179
      Location:11611202
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:957990
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:874914
      EGF_CA; Calcium-binding EGF domain
    6. XM_017004109.1XP_016859598.1  latent-transforming growth factor beta-binding protein 1 isoform X7

    7. XM_017004108.1XP_016859597.1  latent-transforming growth factor beta-binding protein 1 isoform X4

    8. XM_017004110.1XP_016859599.1  latent-transforming growth factor beta-binding protein 1 isoform X11

    9. XM_011532855.2XP_011531157.1  latent-transforming growth factor beta-binding protein 1 isoform X2

      Conserved Domains (5) summary
      smart00179
      Location:12011242
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9971030
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:914954
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:895917
      cEGF; Complement Clr-like EGF-like
    10. XM_011532859.2XP_011531161.1  latent-transforming growth factor beta-binding protein 1 isoform X8

      Conserved Domains (5) summary
      smart00179
      Location:11501191
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:946979
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689723
      TB; TB domain
      pfam07645
      Location:863903
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:844866
      cEGF; Complement Clr-like EGF-like
    11. XM_005264317.3XP_005264374.1  latent-transforming growth factor beta-binding protein 1 isoform X9

      Conserved Domains (5) summary
      smart00179
      Location:11491190
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:945978
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689723
      TB; TB domain
      pfam07645
      Location:862902
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:843865
      cEGF; Complement Clr-like EGF-like
    12. XM_005264318.3XP_005264375.1  latent-transforming growth factor beta-binding protein 1 isoform X13

      Conserved Domains (5) summary
      smart00179
      Location:11491190
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:945978
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689723
      TB; TB domain
      pfam07645
      Location:862902
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:843865
      cEGF; Complement Clr-like EGF-like
    13. XM_011532860.2XP_011531162.1  latent-transforming growth factor beta-binding protein 1 isoform X10

      Conserved Domains (5) summary
      smart00179
      Location:11471188
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:943976
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:633668
      TB; TB domain
      pfam07645
      Location:860900
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:841863
      cEGF; Complement Clr-like EGF-like
    14. XM_011532862.2XP_011531164.1  latent-transforming growth factor beta-binding protein 1 isoform X14

      Conserved Domains (5) summary
      smart00179
      Location:12031244
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9991032
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:689724
      TB; TB domain
      pfam07645
      Location:916956
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:897919
      cEGF; Complement Clr-like EGF-like

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      33101861..33553940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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