IGFALS (insulin like growth factor binding protein acid labile subunit)

Gene

• Entrez ID: 3483
• Gene name: Insulin like growth factor binding protein acid labile subunit
• Gene symbol: IGFALS
• Synonyms (NCBI Gene): ACLSD, ALS
• Chromosome: 16
• Chromosome location: 16p13.3
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909247	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs551618643	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587776686	C>-,CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs606231171	->GCAGGCTGC	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant
rs755775132	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1344337662	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005520	Function	Insulin-like growth factor binding	IBA
GO:0005520	Function	Insulin-like growth factor binding	TAS	1379671
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	TAS	1384485
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	1384485
GO:0038023	Function	Signaling receptor activity	IBA
GO:0042567	Component	Insulin-like growth factor ternary complex	IBA
GO:0042567	Component	Insulin-like growth factor ternary complex	IDA	9497324
GO:0042567	Component	Insulin-like growth factor ternary complex	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 601489
• HGNC: 5468
• e!Ensembl: ENSG00000099769

Protein

• UniProt ID: P35858
• Protein name: Insulin-like growth factor-binding protein complex acid labile subunit (ALS)
• Protein function: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
• PDB: 7WRQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01462	LRRNT	40 → 73	Leucine rich repeat N-terminal domain	Family
  PF13855	LRR_8	75 → 134	Leucine rich repeat	Repeat
  PF13855	LRR_8	102 → 158	Leucine rich repeat	Repeat
  PF13855	LRR_8	146 → 206	Leucine rich repeat	Repeat
  PF13855	LRR_8	195 → 254	Leucine rich repeat	Repeat
  PF13855	LRR_8	219 → 278	Leucine rich repeat	Repeat
  PF13855	LRR_8	242 → 302	Leucine rich repeat	Repeat
  PF13855	LRR_8	290 → 350	Leucine rich repeat	Repeat
  PF13855	LRR_8	338 → 398	Leucine rich repeat	Repeat
  PF13855	LRR_8	386 → 446	Leucine rich repeat	Repeat
  PF13855	LRR_8	434 → 494	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MALRKGGLALALLLLSWVALGPRSLEGADPGTPGEAEGPACPAACVCSYDDDADELSVFC
  SSRNLTRLPDGVPGGTQALWLDGNNLSSVPPAAFQNLSSLGFLNLQGGQLGSLEPQALLG
  LENLCHLHLERNQLRSLALGTFAHTPALASLGLSNNRLSRLEDGLFEGLGSLWDLNLGWN
  SLAVLPDAAFRGLGSLRELVLAGNRLAYLQPALFSGLAELRELDLSRNALRAIKANVFVQ
  LPRLQKLYLDRNLIAAVAPGAFLGLKALRWLDLSHNRVAGLLEDTFPGLLGLRVLRLSHN
  AIASLRPRTFKDLHFLEELQLGHNRIRQLAERSFEGLGQLEVLTLDHNQLQEVKAGAFLG
  LTNVAVMNLSGNCLRNLPEQVFRGLGKLHSLHLEGSCLGRIRPHTFTGLSGLRRLFLKDN
  GLVGIEEQSLWGLAELLELDLTSNQLTHLPHRLFQGLGKLEYLLLSRNRLAELPADALGP
  LQRAFWLDVSHNRLEALPNSLLAPLGRLRYLSLRNNSLRTFTPQPPGLERLWLEGNPWDC
  GCPLKALRDFALQNPSAVPRFVQAICEGDDCQPPAYTYNNITCASPPEVVGLDLRDLSEA
  HFAPC

• Sequence length: 605

Pathways

KEGG:

Growth hormone synthesis, secretion and action

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Short stature due to primary acid-labile subunit deficiency	Pathogenic; Likely pathogenic	rs587776686, rs121909247, rs2548157942, rs551618643	RCV000008600 RCV000008601 RCV003449007 RCV000369230

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
IGFALS-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs769032694, rs34680334, rs747677141, rs2548155936, rs9282729, rs36068954, rs34297640, rs761807331, rs3751893, rs35632685, rs189350550, rs9282731, rs35947557, rs182305760, rs368049621, rs143713567	RCV003408355 RCV003919576 RCV003933908 RCV003964230 RCV003972354 RCV003922336 RCV003969896 RCV003897729 RCV003972355 RCV003957644 RCV003922337 RCV003920343 RCV003969897 RCV004754612 RCV003923230 RCV003925784

Associations from Text Mining
Disease Name	Relationship Type	References
Aortic Coarctation	Associate	32430056
Atrial Fibrillation	Associate	28306170
Autistic Disorder	Associate	25768348
Carcinoma Hepatocellular	Inhibit	24512821
COVID 19	Associate	34667241
Dwarfism Pituitary	Associate	36714562
Growth Disorders	Associate	20389102, 30717585
Insulin Like Growth Factor I Deficiency	Associate	20389102, 35907924
Laron Syndrome	Associate	20389102
Liver Diseases Alcoholic	Associate	36582223
Osteoarthropathy Primary Hypertrophic	Associate	32430056
Puberty Delayed	Associate	30717585
Renal Insufficiency	Associate	20389102
Short Stature Idiopathic Autosomal	Associate	28768959
Stenosis Pulmonary Vein	Stimulate	28306170