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

    Gene ID: 4054, updated on 11-Jun-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See LTBP3 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65538559..65558389, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65306030..65325830, 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 divergent transcript 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
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    GeneReviews: Not available
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    GeneReviews: Not available
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    GeneReviews: Not available

    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
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001130144.3NP_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, AP001362
      Consensus CDS
      CCDS44647.1
      UniProtKB/Swiss-Prot
      Q9NS15
      UniProtKB/TrEMBL
      Q8WYU6
      Related
      ENSP00000301873.5, ENST00000301873.11
      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 109.20210514

    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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