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LTBP3 latent transforming growth factor beta binding protein 3 [ Homo sapiens (human) ]

Gene ID: 4054, updated on 9-Feb-2020

Summary

Official Symbol
LTBP3provided by HGNC
Official Full Name
latent transforming growth factor beta binding protein 3provided by HGNC
Primary source
HGNC:HGNC:6716
See related
Ensembl:ENSG00000168056 MIM:602090
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
Also known as
DASS; LTBP2; LTBP-3; STHAG6; pp6425; GPHYSD3
Summary
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Annotation information
Note: This gene (GeneID: 4054) was identified as LTBP2 in PMID: 7719025. The official symbol for this gene is now LTBP3. [27 Jan 2017]
Expression
Ubiquitous expression in ovary (RPKM 27.2), fat (RPKM 25.7) and 25 other tissues See more
Orthologs

Genomic context

See LTBP3 in Genome Data Viewer
Location:
11q13.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65538559..65558389, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65306030..65325858, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene metastasis associated lung adenocarcinoma transcript 1 Neighboring gene TALAM1 transcript, MALAT1 antisense RNA Neighboring gene MALAT1-associated small cytoplasmic RNA Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 19 Neighboring gene SCY1 like pseudokinase 1 Neighboring gene ZNRD2 antisense RNA 1 (head to head) Neighboring gene zinc ribbon domain containing 2

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dental anomalies and short stature
MedGen: C1832594 OMIM: 601216 GeneReviews: Not available
Compare labs
GELEOPHYSIC DYSPLASIA 3
MedGen: C4540511 OMIM: 617809 GeneReviews: Geleophysic Dysplasia
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33431, FLJ39893, FLJ42533, FLJ44138, FLJ45576, DKFZp586M2123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
bone remodeling IEA
Inferred from Electronic Annotation
more info
 
lung saccule development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mesenchymal stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mesenchymal stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
latent-transforming growth factor beta-binding protein 3
Names
latent TGF beta binding protein 3

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.

Genomic

  1. NG_016437.1 RefSeqGene

    Range
    5001..24670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130144.2NP_001123616.1  latent-transforming growth factor beta-binding protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001123616.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF135960, AF318354, AK024477
    Consensus CDS
    CCDS44647.1
    UniProtKB/Swiss-Prot
    Q9NS15
    UniProtKB/TrEMBL
    Q8WYU6
    Related
    ENSP00000301873.5, ENST00000301873.10
    Conserved Domains (3) summary
    smart00179
    Location:355390
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:660694
    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:415450
    TB; TB domain
  2. NM_001164266.1NP_001157738.1  latent-transforming growth factor beta-binding protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001157738.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site, uses a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment near the C-terminus, compared to isoform 1.
    Source sequence(s)
    AF135960, AF318354, AK024477, BC136277
    UniProtKB/Swiss-Prot
    Q9NS15
    UniProtKB/TrEMBL
    B9EG76, Q8WYU6
    Conserved Domains (3) summary
    smart00179
    Location:238273
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:543577
    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:298333
    TB; TB domain
  3. NM_021070.4NP_066548.2  latent-transforming growth factor beta-binding protein 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_066548.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, as compared to variant 1. The resulting isoform (2) lacks an internal segment but has identical N- and C-termini, as compared to isoform 1.
    Source sequence(s)
    AF135960, AF318354, AK024477
    Consensus CDS
    CCDS8103.1
    UniProtKB/Swiss-Prot
    Q9NS15
    UniProtKB/TrEMBL
    Q8WYU6
    Related
    ENSP00000326647.4, ENST00000322147.8
    Conserved Domains (3) summary
    smart00179
    Location:355390
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:660694
    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:415450
    TB; TB domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65538559..65558389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545033.3XP_011543335.1  latent-transforming growth factor beta-binding protein 3 isoform X2

    Conserved Domains (3) summary
    smart00179
    Location:364399
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:669703
    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:424459
    TB; TB domain
  2. XM_011545032.2XP_011543334.1  latent-transforming growth factor beta-binding protein 3 isoform X1

    Conserved Domains (3) summary
    smart00179
    Location:364399
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:669703
    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:424459
    TB; TB domain
  3. XM_017017737.2XP_016873226.1  latent-transforming growth factor beta-binding protein 3 isoform X3

RNA

  1. XR_949928.3 RNA Sequence

    Related
    ENST00000528516.5
  2. XR_001747875.2 RNA Sequence

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