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Aliases for IGFALS Gene

Aliases for IGFALS Gene

  • Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit 2 3
  • ALS 3 4 6
  • Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit 3
  • Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain 3
  • ACLSD 3

External Ids for IGFALS Gene

Summaries for IGFALS Gene

Entrez Gene Summary for IGFALS 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 hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for IGFALS Gene

IGFALS (Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit) is a Protein Coding gene. Diseases associated with IGFALS include short stature due to primary acid-labile subunit deficiency and acid-labile subunit, deficiency of. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is LRRTM2.

UniProtKB/Swiss-Prot for IGFALS Gene

  • Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion

Gene Wiki entry for IGFALS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGFALS Gene

Genomics for IGFALS Gene

Genomic Location for IGFALS Gene

Start:
1,790,413 bp from pter
End:
1,794,971 bp from pter
Size:
4,559 bases
Orientation:
Minus strand

Genomic View for IGFALS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IGFALS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGFALS Gene

Regulatory Elements for IGFALS Gene

Proteins for IGFALS Gene

  • Protein details for IGFALS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35858-ALS_HUMAN
    Recommended name:
    Insulin-like growth factor-binding protein complex acid labile subunit
    Protein Accession:
    P35858
    Secondary Accessions:
    • B4DZY8
    • E9PGU3

    Protein attributes for IGFALS Gene

    Size:
    605 amino acids
    Molecular mass:
    66035 Da
    Quaternary structure:
    • Forms a ternary complex of about 140 to 150 kDa with IGF-I or IGF-II and IGFBP-3

    Alternative splice isoforms for IGFALS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGFALS Gene

Proteomics data for IGFALS Gene at MOPED

Post-translational modifications for IGFALS Gene

  • Glycosylation at Asn64, Asn85, Asn96, Asn368, Asn515, and Asn580

Other Protein References for IGFALS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for IGFALS Gene

Domains for IGFALS Gene

UniProtKB/Swiss-Prot:

ALS_HUMAN
Domain:
  • Contains 1 LRRCT domain.:
    • P35858
  • Contains 1 LRRNT domain.:
    • P35858
Similarity:
  • Contains 19 LRR (leucine-rich) repeats.:
    • P35858
genes like me logo Genes that share domains with IGFALS: view

No data available for Gene Families for IGFALS Gene

Function for IGFALS Gene

Molecular function for IGFALS Gene

UniProtKB/Swiss-Prot Function: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion

Gene Ontology (GO) - Molecular Function for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0005520 insulin-like growth factor binding TAS 1379671
genes like me logo Genes that share ontologies with IGFALS: view
genes like me logo Genes that share phenotypes with IGFALS: view

Animal Models for IGFALS Gene

MGI Knock Outs for IGFALS:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for IGFALS Gene

Localization for IGFALS Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGFALS Gene

Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IGFALS Gene COMPARTMENTS Subcellular localization image for IGFALS gene
Compartment Confidence
extracellular 5
nucleus 4
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with IGFALS: view

Pathways for IGFALS Gene

genes like me logo Genes that share pathways with IGFALS: view

Gene Ontology (GO) - Biological Process for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007165 signal transduction TAS 1384485
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with IGFALS: view

Compounds for IGFALS Gene

(1) Novoseek inferred chemical compound relationships for IGFALS Gene

Compound -log(P) Hits PubMed IDs
glucose 0 1
genes like me logo Genes that share compounds with IGFALS: view

Transcripts for IGFALS Gene

mRNA/cDNA for IGFALS Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IGFALS Gene

Insulin-like growth factor binding protein, acid labile subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IGFALS Gene

No ASD Table

Relevant External Links for IGFALS Gene

GeneLoc Exon Structure for
IGFALS
ECgene alternative splicing isoforms for
IGFALS

Expression for IGFALS Gene

mRNA expression in normal human tissues for IGFALS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGFALS Gene

This gene is overexpressed in Liver (38.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IGFALS Gene

SOURCE GeneReport for Unigene cluster for IGFALS Gene Hs.839

mRNA Expression by UniProt/SwissProt for IGFALS Gene

P35858-ALS_HUMAN
Tissue specificity: Plasma
genes like me logo Genes that share expressions with IGFALS: view

Orthologs for IGFALS Gene

This gene was present in the common ancestor of animals.

Orthologs for IGFALS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGFALS 36
  • 98.25 (n)
  • 97.96 (a)
IGFALS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGFALS 36
  • 80.1 (n)
  • 75.66 (a)
IGFALS 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGFALS 36
  • 79.81 (n)
  • 74.31 (a)
IGFALS 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igfals 36
  • 79.39 (n)
  • 78.53 (a)
Igfals 16
Igfals 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGFALS 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGFALS 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Igfals 36
  • 79.39 (n)
  • 78.19 (a)
chicken
(Gallus gallus)
Aves IGFALS 36
  • 68.74 (n)
  • 61.38 (a)
IGFALS 37
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGFALS 37
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igfals 36
  • 61.97 (n)
  • 60.82 (a)
zebrafish
(Danio rerio)
Actinopterygii IGFALS 37
  • 51 (a)
OneToOne
si:ch211-66h3.1 36
  • 56.21 (n)
  • 53.05 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 36
  • 42.87 (n)
  • 33.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta haf 37
  • 8 (a)
OneToMany
Toll-7 38
  • 31 (a)
18w 38
  • 30 (a)
CG6749 38
  • 28 (a)
CG7896 38
  • 30 (a)
CG8561 38
  • 30 (a)
CG9562 38
  • 27 (a)
CG5195 38
  • 29 (a)
BG:DS03192.2 38
  • 30 (a)
trn 38
  • 29 (a)
Tollo 38
  • 28 (a)
Species with no ortholog for IGFALS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGFALS Gene

ENSEMBL:
Gene Tree for IGFALS (if available)
TreeFam:
Gene Tree for IGFALS (if available)

Paralogs for IGFALS Gene

Paralogs for IGFALS Gene

Selected SIMAP similar genes for IGFALS Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for IGFALS Gene

genes like me logo Genes that share paralogs with IGFALS: view

Variants for IGFALS Gene

Sequence variations from dbSNP and Humsavar for IGFALS Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs17559 -- 1,791,032(-) GAGTA(C/T)CTGCT reference, synonymous-codon, nc-transcript-variant
rs180753 -- 1,792,819(+) TTCTG(C/G)AGCAG intron-variant
rs186939 -- 1,793,065(+) AGCAG(C/G)CTCCC intron-variant
rs344350 -- 1,794,160(+) CCCCA(A/C)CCAGC upstream-variant-2KB, intron-variant
rs344351 -- 1,796,210(+) agctg(C/G)tctca upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for IGFALS Gene

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv904954 CNV Loss 21882294
nsv905017 CNV Loss 21882294
nsv518641 CNV Loss 19592680
dgv2538n71 CNV Loss 21882294
nsv517196 CNV Gain+Loss 19592680
nsv905023 CNV Gain 21882294
dgv2539n71 CNV Loss 21882294
dgv2540n71 CNV Loss 21882294
nsv457336 CNV Loss 19166990
nsv471069 CNV Loss 18288195
dgv2541n71 CNV Loss 21882294
nsv905031 CNV Gain+Loss 21882294
dgv2542n71 CNV Loss 21882294
nsv905034 CNV Loss 21882294
nsv827500 CNV Gain 20364138
dgv2543n71 CNV Loss 21882294
nsv905042 CNV Loss 21882294
nsv482185 CNV Gain 20164927

Relevant External Links for IGFALS Gene

HapMap Linkage Disequilibrium report
IGFALS
Human Gene Mutation Database (HGMD)
IGFALS
Locus Specific Mutation Databases (LSDB)
IGFALS

Disorders for IGFALS Gene

UniProtKB/Swiss-Prot

ALS_HUMAN
  • Acid-labile subunit deficiency (ACLSD) [MIM:615961]: A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. {ECO:0000269 PubMed:14762184, ECO:0000269 PubMed:16507628, ECO:0000269 PubMed:17726072, ECO:0000269 PubMed:18303074, ECO:0000269 PubMed:19129715, ECO:0000269 PubMed:20389102, ECO:0000269 PubMed:21396577}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for IGFALS Gene

Disease -log(P) Hits PubMed IDs
breast cancer 0.865 1

Relevant External Links for IGFALS

Genetic Association Database (GAD)
IGFALS
Human Genome Epidemiology (HuGE) Navigator
IGFALS
genes like me logo Genes that share disorders with IGFALS: view

Publications for IGFALS Gene

  1. Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes. (PMID: 10650966) Suwanichkul A. … Powell D.R. (Endocrinology 2000) 3 4 23
  2. Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse. (PMID: 16114275) DomenAc H.M. … Boisclair Y.R. (J. Endocrinol. Invest. 2005) 2 3 23
  3. Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk: results from the EPIC study. (PMID: 16404426) Canzian F. … Kaaks R. (Br. J. Cancer 2006) 3 23 49
  4. Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study. (PMID: 17063263) Deming S.L. … Zheng W. (Breast Cancer Res. Treat. 2007) 3 23 49
  5. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. (PMID: 17546465) Lettre G. … Hirschhorn J.N. (Hum. Genet. 2007) 3 23 49

Products for IGFALS Gene

Sources for IGFALS Gene

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