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

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Virus-inducible IGFALS facilitates innate immune responses by mediating IRAK1 and TRAF6 activation.
Title: Virus-inducible IGFALS facilitates innate immune responses by mediating IRAK1 and TRAF6 activation.
[Liver Tissue-specific Genes IGFALS,CYP3A4,SLC22A1 and CYP2E1 May be Associated with Poor Prognosis of Liver Cancer].
Title: [Liver Tissue-specific Genes IGFALS,CYP3A4,SLC22A1 and CYP2E1 May be Associated with Poor Prognosis of Liver Cancer].
Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
Title: Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants.
Title: Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.
Previously characterized disease-causing mutations in IGF2, IGF1R, IGF2R, or IGFALS all were found in the general population but with allele frequencies of <1:30,000.
Title: Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.
To the known phenotype of ACLSD (i.e. short stature, reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3 and disturbed ternary complex formation), the study adds reduced birth weight, head circumference and serum IGF-II.
Title: Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations.
Mutations in the IGFALS and low expression level of IGFALS proteins lead to growth and development retardation. [Review]
Title: [Structure and function of insulin-like growth factor acid-labile subunits in mammalian homologues].
A novel homozygous mutation in IGFALS, c.380T>C (p.L127P), was identified in two siblings of a consanguineous family.
Title: A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
Heterozygous IGFALS gene variants could be responsible for short stature in a subset of idiopathic short stature children with diminished levels of IGF-1, IGFBP-3 and ALS.
Title: Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion.
Title: IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IGFALS_349 (e-PCR)
- UniSTS:277358

D16S2960 (e-PCR)
- UniSTS:26794

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 more info	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

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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)

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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

NG_011778.1 RefSeqGene

Range

5029..8321

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001146006.2 → NP_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:78 → 116

LRRNT; Leucine rich repeat N-terminal domain

PLN00113
Location:119 → 561

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

sd00033
Location:95 → 113

LRR_RI; leucine-rich repeat [structural motif]

cl15307
Location:574 → 618

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
NM_004970.3 → NP_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:40 → 78

LRRNT; Leucine rich repeat N-terminal domain

sd00033
Location:57 → 75

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:219 → 278

LRR_8; Leucine rich repeat

cl15307
Location:536 → 580

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

RNA

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