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

Gene ID: 8425, updated on 18-Aug-2020

Summary

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
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

Genomic context

See LTBP4 in Genome Data Viewer
Location:
19q13.2
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40593166..40629820)
105 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 Sharpr-MPRA regulatory region 6117 Neighboring gene SH3KBP1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 4590 Neighboring gene NUMB like endocytic adaptor protein Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46318, FLJ90018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
glycosaminoglycan binding NAS
Non-traceable Author Statement
more info
PubMed 
integrin binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta binding IDA
Inferred from Direct Assay
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 

General protein information

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

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_021201.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001042544.1NP_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
    Q8N2S1
    UniProtKB/TrEMBL
    B3KXY6
    Related
    ENSP00000311905.8, ENST00000308370.11
    Conserved Domains (5) summary
    smart00179
    Location:878914
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:671708
    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:418453
    TB; TB domain
    pfam07645
    Location:752792
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:567590
    cEGF; Complement Clr-like EGF-like
  2. NM_001042545.2NP_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
    ENSP00000380031.4, ENST00000396819.7
    Conserved Domains (5) summary
    smart00179
    Location:811847
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:604641
    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:351386
    TB; TB domain
    pfam07645
    Location:685725
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:500523
    cEGF; Complement Clr-like EGF-like
  3. NM_003573.2NP_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/Swiss-Prot
    Q8N2S1
    UniProtKB/TrEMBL
    A0A0C4DH07, B3KXY6
    Related
    ENSP00000204005.10, ENST00000204005.13
    Conserved Domains (5) summary
    smart00179
    Location:841877
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:634671
    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:381416
    TB; TB domain
    pfam07645
    Location:715755
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:530553
    cEGF; Complement Clr-like EGF-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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