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

    Gene ID: 8425, updated on 7-Sep-2023

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LTBP4 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40593166..40629820)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43413757..43450378)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41108540-41109063 Neighboring gene Sharpr-MPRA regulatory region 12022 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41119811-41120358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41128498-41129138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41136805-41137395 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41153389-41154370 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 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

    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

    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
    PubMed 
    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 

    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)

    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_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
      O00508, O75412, O75413, 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
      ENSP00000380031.5, ENST00000396819.8
      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: GCF_000001405.40-RS_2023_03

    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)