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

Gene ID: 3483, updated on 13-Feb-2019

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
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

Genomic context

See IGFALS in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (1790413..1794908, complement)
105 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 essential meiotic structure-specific endonuclease subunit 2 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 3 Neighboring gene nucleotide binding protein 2 Neighboring gene hydroxyacylglutathione hydrolase 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acid-labile subunit deficiency
MedGen: C3900122 OMIM: 615961 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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)

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
    5001..8321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146006.1NP_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/Swiss-Prot
    P35858
    UniProtKB/TrEMBL
    Q8TAY0
    Related
    ENSP00000416683.3, ENST00000415638.3
    Conserved Domains (4) summary
    smart00013
    Location:78116
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:95113
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:257316
    LRR_8; Leucine rich repeat
    cl15307
    Location:574618
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  2. NM_004970.2NP_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
    P35858
    UniProtKB/TrEMBL
    Q8TAY0
    Related
    ENSP00000215539.3, ENST00000215539.3
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

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