ENSG00000099769


Homo sapiens

Features
Gene ID: ENSG00000099769
  
Biological name :IGFALS
  
Synonyms : IGFALS / insulin like growth factor binding protein acid labile subunit / P35858
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.3
Gene start: 1790413
Gene end: 1794971
  
Corresponding Affymetrix probe sets: 215712_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416683
Ensembl peptide - ENSP00000215539
Ensembl peptide - ENSP00000456923
NCBI entrez gene - 3483     See in Manteia.
OMIM - 601489
RefSeq - NM_004970
RefSeq - NM_001146006
RefSeq Peptide - NP_001139478
RefSeq Peptide - NP_004961
swissprot - P35858
swissprot - H3BSX8
Ensembl - ENSG00000099769
  
Related genetic diseases (OMIM): 615961 - Acid-labile subunit, deficiency of, 615961
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 igfalsENSDARG00000037836Danio rerio
 IGFALSENSGALG00000002325Gallus gallus
 IgfalsENSMUSG00000046070Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHADL / Q6NUI6 / chondroadherin likeENSG0000010039930
GP5 / P40197 / glycoprotein V plateletENSG0000017873222
LRRC15 / Q8TF66 / leucine rich repeat containing 15ENSG0000017206122
CPN2 / P22792 / carboxypeptidase N subunit 2ENSG0000017877222
NYX / Q9GZU5 / nyctalopinENSG0000018893721
TRIL / Q7L0X0 / TLR4 interactor with leucine rich repeatsENSG0000025569020
LRRC70 / Q7Z2Q7 / leucine rich repeat containing 70ENSG0000018610518
LRRTM4 / Q86VH4 / leucine rich repeat transmembrane neuronal 4ENSG0000017620416
LRRTM3 / Q86VH5 / leucine rich repeat transmembrane neuronal 3ENSG0000019873916
LRRTM1 / Q86UE6 / leucine rich repeat transmembrane neuronal 1ENSG0000016295116
LRRTM2 / O43300 / leucine rich repeat transmembrane neuronal 2ENSG0000014600616
CHAD / O15335 / chondroadherinENSG0000013645714


Protein motifs (from Interpro)
Interpro ID Name
 IPR000372  Leucine-rich repeat N-terminal domain
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0042567 insulin-like growth factor ternary complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005520 insulin-like growth factor binding TAS


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000823 Delayed puberty 
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 HP:0000855 Insulin resistance 
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 HP:0001530 Growth retardation, mild 
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 HP:0001956 Truncal obesity "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0008189 Insulin insensitivity 
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 HP:0030353 Decreased serum insulin-like growth factor 1 "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson]
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 HP:0045046 Decreased levels of acid labile subunit 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100448 CTSG / P08311 / cathepsin G  / reaction
 ENSG00000017427 IGF1 / P05019 / insulin like growth factor 1  / complex / reaction
 ENSG00000167244 IGF2 / P01344 / insulin like growth factor 2  / reaction / complex
 ENSG00000115461 IGFBP5 / P24593 / insulin like growth factor binding protein 5  / complex / reaction
 ENSG00000087245 MMP2 / P08253 / matrix metallopeptidase 2  / reaction
 ENSG00000122194 PLG / P00747 / plasminogen  / reaction
 ENSG00000146674 IGFBP3 / P17936 / insulin like growth factor binding protein 3  / reaction / complex
 ENSG00000180210 F2 / P00734 / coagulation factor II, thrombin  / reaction
 ENSG00000182752 PAPPA / Q13219 / pappalysin 1  / reaction
 ENSG00000142515 KLK3 / P07288 / kallikrein related peptidase 3  / reaction
 ENSG00000196611 MMP1 / P03956 / matrix metallopeptidase 1  / reaction
 ENSG00000116183 PAPPA2 / Q9BXP8 / pappalysin 2  / reaction






 

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