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    IGFALS insulin like growth factor binding protein acid labile subunit [ Homo sapiens (human) ]

    Gene ID: 3483, updated on 23-Nov-2023

    Summary

    Official Symbol
    IGFALSprovided by HGNC
    Official Full Name
    insulin like growth factor binding protein acid labile subunitprovided by HGNC
    Primary source
    HGNC:HGNC:5468
    See related
    Ensembl:ENSG00000099769 MIM:601489; AllianceGenome:HGNC:5468
    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
    ALS; ACLSD
    Summary
    The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Biased expression in liver (RPKM 19.9) and stomach (RPKM 3.6) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See IGFALS in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1790413..1794908, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1806253..1810748, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1840414..1844909, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7008 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1833677-1833903 Neighboring gene essential meiotic structure-specific endonuclease subunit 2 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1836968-1837136 Neighboring gene NUBP iron-sulfur cluster assembly factor 2, cytosolic Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1859423-1859585 Neighboring gene hydroxyacylglutathione hydrolase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10240 Neighboring gene Sharpr-MPRA regulatory region 12541 Neighboring gene fumarylacetoacetate hydrolase domain containing 1 Neighboring gene meiosis specific with OB-fold

    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
    Short stature due to primary acid-labile subunit deficiency
    MedGen: C3900122 OMIM: 615961 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables insulin-like growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of insulin-like growth factor ternary complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of insulin-like growth factor ternary complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    insulin-like growth factor-binding protein complex acid labile subunit
    Names
    insulin-like growth factor binding protein complex acid labile chain

    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_011778.1 RefSeqGene

      Range
      5029..8321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146006.2NP_001139478.1  insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC012180, AK303146, BC025681
      Consensus CDS
      CCDS53982.1
      UniProtKB/TrEMBL
      B0AZL7, Q8TAY0
      Related
      ENSP00000416683.3, ENST00000415638.3
      Conserved Domains (4) summary
      smart00013
      Location:78116
      LRRNT; Leucine rich repeat N-terminal domain
      PLN00113
      Location:119561
      PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
      sd00033
      Location:95113
      LRR_RI; leucine-rich repeat [structural motif]
      cl15307
      Location:574618
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
    2. NM_004970.3NP_004961.1  insulin-like growth factor-binding protein complex acid labile subunit isoform 2 precursor

      See identical proteins and their annotated locations for NP_004961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC012180, BC025681
      Consensus CDS
      CCDS10446.1
      UniProtKB/Swiss-Prot
      B4DZY8, E9PGU3, P35858
      UniProtKB/TrEMBL
      B0AZL7, Q8TAY0
      Related
      ENSP00000215539.3, ENST00000215539.4
      Conserved Domains (4) summary
      smart00013
      Location:4078
      LRRNT; Leucine rich repeat N-terminal domain
      sd00033
      Location:5775
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:219278
      LRR_8; Leucine rich repeat
      cl15307
      Location:536580
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    RNA

    1. NR_027389.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC012180, BC025681, DA642067

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1790413..1794908 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1806253..1810748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)