Format

Send to:

Choose Destination

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

Gene ID: 4052, updated on 12-May-2016
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 HPRD:01039; 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-p21
Exon count:
36
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (32947300..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

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...
  • 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 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF Beta Signaling Pathway, 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
 
coronary vasculature development IEA
Inferred from Electronic Annotation
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
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
 
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, OTTHUMP00000201281, ENST00000407925, OTTHUMT00000325420
    Conserved Domains (3) summary
    cd00054
    Location:876917
    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:362402
    TB; TB 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, ENST00000418533
    Conserved Domains (3) summary
    cd00054
    Location:876917
    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:362402
    TB; TB 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, OTTHUMP00000201218, ENST00000404525, OTTHUMT00000325298
    Conserved Domains (4) summary
    smart00179
    Location:578618
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:823864
    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:362397
    TB; TB 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 (3) summary
    cd00054
    Location:823864
    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:362397
    TB; TB 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, OTTHUMP00000201676, ENST00000404816, OTTHUMT00000326227
    Conserved Domains (3) summary
    cd00054
    Location:12021243
    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:688728
    TB; TB domain
    pfam12662
    Location:896918
    cEGF; Complement Clr-like EGF-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    32947300..33399509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532853.1XP_011531155.1  

    UniProtKB/Swiss-Prot
    Q14766
    Conserved Domains (3) summary
    cd00054
    Location:12031244
    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:688728
    TB; TB domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  2. XM_011532857.1XP_011531159.1  

    Conserved Domains (3) summary
    cd00054
    Location:12031244
    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:688728
    TB; TB domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  3. XM_011532861.1XP_011531163.1  

    Conserved Domains (3) summary
    cd00054
    Location:12031244
    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:688728
    TB; TB domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  4. XM_011532856.1XP_011531158.1  

    Conserved Domains (3) summary
    cd00054
    Location:11631204
    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:688728
    TB; TB domain
    pfam12662
    Location:897919
    cEGF; Complement Clr-like EGF-like
  5. XM_011532858.1XP_011531160.1  

    Conserved Domains (3) summary
    cd00054
    Location:11611202
    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:688728
    TB; TB domain
    pfam12662
    Location:12251248
    cEGF; Complement Clr-like EGF-like
  6. XM_011532854.1XP_011531156.1  

    Conserved Domains (3) summary
    cd00054
    Location:12021243
    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:688728
    TB; TB domain
    pfam12662
    Location:896918
    cEGF; Complement Clr-like EGF-like
  7. XM_011532855.1XP_011531157.1  

    Conserved Domains (3) summary
    cd00054
    Location:12011242
    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:688728
    TB; TB domain
    pfam12662
    Location:895917
    cEGF; Complement Clr-like EGF-like
  8. XM_011532859.1XP_011531161.1  

    Conserved Domains (3) summary
    cd00054
    Location:11501191
    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:688723
    TB; TB domain
    pfam12662
    Location:844866
    cEGF; Complement Clr-like EGF-like
  9. XM_005264317.2XP_005264374.1  

    Conserved Domains (3) summary
    cd00054
    Location:11491190
    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:688723
    TB; TB domain
    pfam12662
    Location:843865
    cEGF; Complement Clr-like EGF-like
  10. XM_005264318.2XP_005264375.1  

    Conserved Domains (3) summary
    cd00054
    Location:11491190
    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:688723
    TB; TB domain
    pfam12662
    Location:843865
    cEGF; Complement Clr-like EGF-like
  11. XM_011532860.1XP_011531162.1  

    Conserved Domains (3) summary
    cd00054
    Location:11471188
    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:632672
    TB; TB domain
    pfam12662
    Location:841863
    cEGF; Complement Clr-like EGF-like
  12. XM_011532862.1XP_011531164.1  

    Conserved Domains (3) summary
    cd00054
    Location:12031244
    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:688728
    TB; TB 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)