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LTBP4 latent transforming growth factor beta binding protein 4 [ Homo sapiens (human) ]

Gene ID: 8425, updated on 2-Nov-2024

Summary

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Official Symbol
LTBP4provided by HGNC
Official Full Name
latent transforming growth factor beta binding protein 4provided by HGNC
Primary source
HGNC:HGNC:6717
See related
Ensembl:ENSG00000090006 MIM:604710; AllianceGenome:HGNC:6717
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
ARCL1C; LTBP-4; LTBP4L; LTBP4S
Summary
The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Expression
Broad expression in prostate (RPKM 61.4), endometrium (RPKM 53.8) and 22 other tissues See more
Orthologs
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Genomic context

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See LTBP4 in Genome Data Viewer
Location:
19q13.2
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40593166..40629820)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43413757..43450378)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41099072..41135725)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene spectrin beta, non-erythrocytic 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41029231-41029526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10635 Neighboring gene Sharpr-MPRA regulatory region 6117 Neighboring gene SH3KBP1 binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10639 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41142798-41142919 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10641 Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41194847-41195786 Neighboring gene NUMB like endocytic adaptor protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41196725-41197662 Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effect of decreased expression of latent TGF-beta binding proteins 4 on the pathogenesis of emphysema as an age-related disease.
    Title: Effect of decreased expression of latent TGF-β binding proteins 4 on the pathogenesis of emphysema as an age-related disease.
  2. Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease.
    Title: Novel indel variation of LTBP4 gene associates with risk of sudden cardiac death in Chinese populations with coronary artery disease.
  3. LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
    Title: LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts.
  4. Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.
    Title: Association of polymorphisms rs2303729, rs10880, and rs1131620 of LTBP4 with sarcopenia in elderly patients with type 2 diabetes mellitus.
  5. Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.
    Title: Specific Overexpression of YAP in Vascular Smooth Muscle Attenuated Abdominal Aortic Aneurysm Formation by Activating Elastic Fiber Assembly via LTBP4.
  6. LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
    Title: LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.
  7. Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
    Title: Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis.
  8. LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
    Title: LTBP4 affects renal fibrosis by influencing angiogenesis and altering mitochondrial structure.
  9. Serum latent transforming growth factor-beta binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
    Title: Serum latent transforming growth factor-β binding protein 4 as a novel biomarker for idiopathic pleuroparenchymal fibroelastosis.
  10. Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
    Title: Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46318, FLJ90018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables glycosaminoglycan binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables integrin binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transforming growth factor beta receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in elastic fiber assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hormone secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in protein folding TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell growth TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in microfibril ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
latent-transforming growth factor beta-binding protein 4
Names
latent transforming growth factor-beta binding protein 4L

NCBI Reference Sequences (RefSeq)

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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_021201.1 RefSeqGene

    Range
    5001..41655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042544.1 → NP_001036009.1  latent-transforming growth factor beta-binding protein 4 isoform a precursor

    See identical proteins and their annotated locations for NP_001036009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF051345, AK128191, BQ001109, Y13622
    Consensus CDS
    CCDS74369.1
    UniProtKB/Swiss-Prot
    O00508, O75412, O75413, Q8N2S1
    Related
    ENSP00000311905.8, ENST00000308370.11
    Conserved Domains (5) summary
    smart00179
    Location:878 → 914
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:671 → 708
    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:418 → 453
    TB; TB domain
    pfam07645
    Location:752 → 792
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:567 → 590
    cEGF; Complement Clr-like EGF-like

  2. NM_001042545.2 → NP_001036010.1  latent-transforming growth factor beta-binding protein 4 isoform c precursor

    See identical proteins and their annotated locations for NP_001036010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AC010412, AF051344, AK128191, BQ001109, Y13622
    Consensus CDS
    CCDS74370.1
    UniProtKB/Swiss-Prot
    Q8N2S1
    UniProtKB/TrEMBL
    B3KXY6
    Related
    ENSP00000380031.5, ENST00000396819.8
    Conserved Domains (5) summary
    smart00179
    Location:811 → 847
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:604 → 641
    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:351 → 386
    TB; TB domain
    pfam07645
    Location:685 → 725
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:500 → 523
    cEGF; Complement Clr-like EGF-like

  3. NM_003573.2 → NP_003564.2  latent-transforming growth factor beta-binding protein 4 isoform b

    See identical proteins and their annotated locations for NP_003564.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF051345, AK128191, BQ001109, Y13622
    Consensus CDS
    CCDS74368.1
    UniProtKB/TrEMBL
    A0A0C4DH07
    Related
    ENSP00000204005.10, ENST00000204005.13
    Conserved Domains (5) summary
    smart00179
    Location:841 → 877
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:634 → 671
    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:381 → 416
    TB; TB domain
    pfam07645
    Location:715 → 755
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:530 → 553
    cEGF; Complement Clr-like EGF-like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    40593166..40629820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    43413757..43450378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N2S1.2 GenPept UniProtKB/Swiss-Prot:Q8N2S1

Gene LinkOut

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