IGFALS

Last updated

IGFALS
Identifiers
Aliases IGFALS , ALS, ACLSD, insulin like growth factor binding protein acid labile subunit
External IDs OMIM: 601489 MGI: 107973 HomoloGene: 37987 GeneCards: IGFALS
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001146006
NM_004970

NM_008340
NM_001364895
NM_001364896

RefSeq (protein)

NP_001139478
NP_004961

NP_032366
NP_001351824
NP_001351825

Location (UCSC) Chr 16: 1.79 – 1.79 Mb Chr 17: 25.08 – 25.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. [5]

Contents

Function

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. Three transcript variants encoding two different isoforms have been found for this gene. [5]

Clinical significance

Defects in this gene are a cause of acid-labile subunit deficiency, which manifests itself in a delayed and slow puberty. [6]

Interactions

IGFALS has been shown to interact with IGFBP3. [7] [8]

Related Research Articles

<span class="mw-page-title-main">Insulin-like growth factor 2</span> Protein hormone

Insulin-like growth factor 2 (IGF-2) is one of three protein hormones that share structural similarity to insulin. The MeSH definition reads: "A well-characterized neutral peptide believed to be secreted by the liver and to circulate in the blood. It has growth-regulating, insulin-like and mitogenic activities. The growth factor has a major, but not absolute, dependence on somatotropin. It is believed to be a major fetal growth factor in contrast to insulin-like growth factor 1 (IGF-1), which is a major growth factor in adults."

<span class="mw-page-title-main">Insulin-like growth factor 2 receptor</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor 2 receptor (IGF2R), also called the cation-independent mannose-6-phosphate receptor (CI-MPR) is a protein that in humans is encoded by the IGF2R gene. IGF2R is a multifunctional protein receptor that binds insulin-like growth factor 2 (IGF2) at the cell surface and mannose-6-phosphate (M6P)-tagged proteins in the trans-Golgi network.

<span class="mw-page-title-main">GRB10</span> Protein-coding gene in the species Homo sapiens

Growth factor receptor-bound protein 10 also known as insulin receptor-binding protein Grb-IR is a protein that in humans is encoded by the GRB10 gene.

<span class="mw-page-title-main">PIK3R1</span> Protein-coding gene in the species Homo sapiens

Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.

<span class="mw-page-title-main">IGFBP3</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 3, also known as IGFBP-3, is a protein that in humans is encoded by the IGFBP3 gene. IGFBP-3 is one of six IGF binding proteins that have highly conserved structures and bind the insulin-like growth factors IGF-1 and IGF-2 with high affinity. IGFBP-7, sometimes included in this family, shares neither the conserved structural features nor the high IGF affinity. Instead, IGFBP-7 binds IGF1R, which blocks IGF-1 and IGF-2 binding, resulting in apoptosis.

<span class="mw-page-title-main">IRS2</span> Protein-coding gene in the species Homo sapiens

Insulin receptor substrate 2 is a protein that in humans is encoded by the IRS2 gene.

<span class="mw-page-title-main">IGFBP2</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 2 is a protein that in humans is encoded by the IGFBP2 gene.

<span class="mw-page-title-main">IGFBP5</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 5(IBF-5) is a protein that in humans is encoded by the IGFBP5 gene. An IGFBP5 gene was recently identified as being important for adaptation to varying water salinity in fish.

<span class="mw-page-title-main">IGFBP4</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 4 is a protein that in humans is encoded by the IGFBP4 gene.

<span class="mw-page-title-main">NFYB</span> Protein-coding gene in the species Homo sapiens

Nuclear transcription factor Y subunit beta is a protein that in humans is encoded by the NFYB gene.

<span class="mw-page-title-main">IGFBP6</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 6 (IGFBP-6) is a protein that in humans is encoded by the IGFBP6 gene.

<span class="mw-page-title-main">IGFBP1</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 1 (IBP-1) also known as placental protein 12 (PP12) is a protein that in humans is encoded by the IGFBP1 gene.

<span class="mw-page-title-main">IGF2BP1</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor 2 mRNA-binding protein 1 is a protein that in humans is encoded by the IGF2BP1 gene.

<span class="mw-page-title-main">IGFBP7</span> Protein-coding gene in the species Homo sapiens

Insulin-like growth factor-binding protein 7 is a protein that in humans is encoded by the IGFBP7 gene. The major function of the protein is the regulation of availability of insulin-like growth factors (IGFs) in tissue as well as in modulating IGF binding to its receptors. IGFBP7 binds to IGF with low affinity compared to IGFBPs 1-6. It also stimulates cell adhesion. The protein is implicated in some cancers.

<span class="mw-page-title-main">NFYC</span> Protein-coding gene in the species Homo sapiens

Nuclear transcription factor Y subunit gamma is a protein that in humans is encoded by the NFYC gene.

<span class="mw-page-title-main">GRB14</span> Protein-coding gene in the species Homo sapiens

Growth factor receptor-bound protein 14 is a protein that in humans is encoded by the GRB14 gene.

<span class="mw-page-title-main">IRS4</span> Protein-coding gene in the species Homo sapiens

Insulin receptor substrate 4 is a protein that in humans is encoded by the IRS4 gene.

<span class="mw-page-title-main">INSRR</span> Protein-coding gene in the species Homo sapiens

Insulin receptor-related protein is a protein that in humans is encoded by the INSRR gene.

<span class="mw-page-title-main">GTF2F2</span> Protein-coding gene in the species Homo sapiens

General transcription factor IIF subunit 2 is a protein that in humans is encoded by the GTF2F2 gene.

des(1-3)IGF-1 is a naturally occurring, endogenous protein, as well as drug, and truncated analogue of insulin-like growth factor 1 (IGF-1). des(1-3)IGF-1 lacks the first three amino acids at the N-terminus of IGF-1. As a result of this difference, it has considerably reduced binding to the insulin-like growth factor-binding proteins (IGFBPs) and enhanced potency relative to IGF-1.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000099769 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046070 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: IGFALS insulin-like growth factor binding protein, acid labile subunit".
  6. Bocchini, Carol A. (25 August 2014). "ACID-LABILE SUBUNIT DEFICIENCY; ACLSD". OMIM - An Online Catalog of Human Genes and Genetic Disorders. Retrieved 21 February 2024.
  7. Twigg SM, Baxter RC (March 1998). "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit". J. Biol. Chem. 273 (11): 6074–9. doi: 10.1074/jbc.273.11.6074 . PMID   9497324.
  8. Firth SM, Ganeshprasad U, Baxter RC (January 1998). "Structural determinants of ligand and cell surface binding of insulin-like growth factor-binding protein-3". J. Biol. Chem. 273 (5): 2631–8. doi: 10.1074/jbc.273.5.2631 . PMID   9446566.

Further reading