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

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3483
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin like growth factor binding protein acid labile subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGFALS
Synonyms (NCBI Gene) Gene synonyms aliases
ACLSD, ALS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACLSD, ALS
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways
Show/Hide all(6)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways
Show/Hide all(11)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways
MIM HGNC e!Ensembl
601489 5468 ENSG00000099769
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways
  KEGG   Reactome
  Growth hormone synthesis, secretion and action   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)