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Aliases for IGFALS Gene

Aliases for IGFALS Gene

  • Insulin Like Growth Factor Binding Protein Acid Labile Subunit 2 3 5
  • Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit 2 3
  • ALS 3 4
  • Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain 3
  • ACLSD 3

External Ids for IGFALS Gene

Previous GeneCards Identifiers for IGFALS Gene

  • GC16M001857
  • GC16M001780
  • GC16M001840

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 acid-labile subunit, deficiency of and short stature due to primary acid-labile subunit deficiency. Among its related pathways are Transport to the Golgi and subsequent modification 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

Regulatory Elements for IGFALS Gene

Promoters for IGFALS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IGFALS on UCSC Golden Path with GeneCards custom track

Genomic Location for IGFALS Gene

Chromosome:
16
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

Genes around IGFALS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGFALS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGFALS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 Asn 64, Asn 85, Asn 96, Asn 368, Asn 515, and Asn 580
  • Modification sites at PhosphoSitePlus

Other Protein References for IGFALS Gene

Antibody Products

No data available for DME Specific Peptides for IGFALS Gene

Domains & Families for IGFALS Gene

Graphical View of Domain Structure for InterPro Entry

P35858

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for IGFALS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGFALS Gene

MGI Knock Outs for IGFALS:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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 5
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for IGFALS Gene

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

Pathways & Interactions 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:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with IGFALS: view

No data available for SIGNOR curated interactions for IGFALS Gene

Drugs & Compounds for IGFALS Gene

(1) Additional Compounds for IGFALS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 (x38.2).

Protein differential expression in normal tissues from HIPED for IGFALS Gene

This gene is overexpressed in Serum (33.9), Plasma (11.2), and Synovial fluid (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IGFALS: view

Protein tissue co-expression partners for IGFALS Gene

Primer Products

In Situ Assay Products

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 35
  • 98.25 (n)
  • 97.96 (a)
IGFALS 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGFALS 36
  • 75 (a)
OneToOne
IGFALS 35
  • 80.1 (n)
  • 75.66 (a)
dog
(Canis familiaris)
Mammalia IGFALS 35
  • 79.81 (n)
  • 74.31 (a)
IGFALS 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igfals 16
Igfals 36
  • 78 (a)
OneToOne
Igfals 35
  • 79.39 (n)
  • 78.53 (a)
oppossum
(Monodelphis domestica)
Mammalia IGFALS 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGFALS 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Igfals 35
  • 79.39 (n)
  • 78.19 (a)
chicken
(Gallus gallus)
Aves IGFALS 35
  • 68.74 (n)
  • 61.38 (a)
IGFALS 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGFALS 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igfals 35
  • 61.97 (n)
  • 60.82 (a)
zebrafish
(Danio rerio)
Actinopterygii IGFALS 36
  • 51 (a)
OneToOne
si:ch211-66h3.1 35
  • 56.21 (n)
  • 53.05 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 35
  • 42.87 (n)
  • 33.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta haf 36
  • 8 (a)
OneToMany
18w 37
  • 30 (a)
BG:DS03192.2 37
  • 30 (a)
CG5195 37
  • 29 (a)
CG6749 37
  • 28 (a)
CG7896 37
  • 30 (a)
CG8561 37
  • 30 (a)
CG9562 37
  • 27 (a)
Toll-7 37
  • 31 (a)
Tollo 37
  • 28 (a)
trn 37
  • 29 (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

(1) 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
rs9282730 - 1,790,926(-) CATTG(C/T)CCAAC nc-transcript-variant, reference, missense
rs9282731 - 1,790,776(-) CGCTG(C/T)GGGAC nc-transcript-variant, reference, missense
rs35947557 - 1,792,129(-) AGAAC(C/T)TCTCC nc-transcript-variant, reference, missense
rs34297640 - 1,791,498(-) GCGGC(C/T)CCGCA nc-transcript-variant, reference, missense
VAR_072475 Acid-labile subunit deficiency (ACLSD)

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

Variation tolerance for IGFALS Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 64.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGFALS Gene

HapMap Linkage Disequilibrium report
IGFALS
Human Gene Mutation Database (HGMD)
IGFALS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGFALS Gene

Disorders for IGFALS Gene

MalaCards: The human disease database

(3) MalaCards diseases for IGFALS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
short stature due to primary acid-labile subunit deficiency
noonan syndrome 1
  • noonan syndrome
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:23488611}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IGFALS

Genetic Association Database (GAD)
IGFALS
Human Genome Epidemiology (HuGE) Navigator
IGFALS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGFALS
genes like me logo Genes that share disorders with IGFALS: view

No data available for Genatlas for IGFALS Gene

Publications for IGFALS Gene

  1. Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex. (PMID: 1379671) Leong S.R. … Wood W.I. (Mol. Endocrinol. 1992) 2 3 4 67
  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. Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density. (PMID: 20302654) Biong M. … Kristensen V.N. (BMC Med Genomics 2010) 3 23
  4. Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. (PMID: 19129715) Fofanova-Gambetti O.V. … Rosenfeld R.G. (Horm. Res. 2009) 3 23
  5. Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences. (PMID: 19729943) DomenAc H.M. … Rosenfeld R.G. (Horm. Res. 2009) 3 23

Products for IGFALS Gene

Sources for IGFALS Gene

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