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: 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	21873635
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0007155	Process	Cell adhesion	IEA
GO:0007165	Process	Signal transduction	TAS	1384485
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0042567	Component	Insulin-like growth factor ternary complex	IBA	21873635
GO:0042567	Component	Insulin-like growth factor ternary complex	IDA	9497324
GO:0044267	Process	Cellular protein metabolic process	TAS
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

• 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

Unknown
Disease name	Disease term	dbSNP ID	References
Dwarfism	Dwarfism		14762184
Liver carcinoma	Liver carcinoma		28284560
Micrognathism	Micrognathism