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

Gene ID: 4052, updated on 6-Jan-2019

Summary

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
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]
Expression
Broad expression in gall bladder (RPKM 40.6), placenta (RPKM 32.5) and 24 other tissues See more
Orthologs

Genomic context

See LTBP1 in Genome Data Viewer
Location:
2p22.3
Exon count:
38
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (32902129..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 baculoviral IAP repeat containing 6 Neighboring gene BIRC6 antisense RNA 2 Neighboring gene microRNA 4765 Neighboring gene tetratricopeptide repeat domain 27 Neighboring gene long intergenic non-protein coding RNA 486 Neighboring gene uncharacterized LOC105374453 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent HDA PubMed 
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
 
regulation of transforming growth factor beta activation IDA
Inferred from Direct Assay
more info
PubMed 
sequestering of TGFbeta in extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
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
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000407925.5
    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, ENST00000404525.5
    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_206943.3NP_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, ENST00000404816.6
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    32902129..33399509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452888.1XP_024308656.1  latent-transforming growth factor beta-binding protein 1 isoform X14

    Conserved Domains (6) summary
    smart00179
    Location:10041045
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:800833
    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:490529
    TB; TB domain
    pfam07645
    Location:717757
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:698720
    cEGF; Complement Clr-like EGF-like
    cl26464
    Location:543670
    Atrophin-1; Atrophin-1 family
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. XM_017004109.1XP_016859598.1  latent-transforming growth factor beta-binding protein 1 isoform X7

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

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

  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. XM_011532862.2XP_011531164.1  latent-transforming growth factor beta-binding protein 1 isoform X16

    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
  16. XM_024452889.1XP_024308657.1  latent-transforming growth factor beta-binding protein 1 isoform X14

    Conserved Domains (6) summary
    smart00179
    Location:10041045
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:800833
    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:490529
    TB; TB domain
    pfam07645
    Location:717757
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:698720
    cEGF; Complement Clr-like EGF-like
    cl26464
    Location:543670
    Atrophin-1; Atrophin-1 family
  17. XM_024452890.1XP_024308658.1  latent-transforming growth factor beta-binding protein 1 isoform X15

    Conserved Domains (5) summary
    smart00179
    Location:834875
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:630663
    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:363402
    TB; TB domain
    pfam07645
    Location:547587
    EGF_CA; Calcium-binding EGF domain
    cl26464
    Location:416542
    Atrophin-1; Atrophin-1 family
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