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Aliases for IGFALS Gene

Aliases for IGFALS Gene

  • Insulin Like Growth Factor Binding Protein Acid Labile Subunit 2 3 5
  • ALS 3 4
  • Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit 3
  • Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain 3
  • Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit 2
  • 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 3-M Syndrome 1. Among its related pathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and Metabolism of proteins. GO annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is CHADL.

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

Enhancers for IGFALS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F001793 1 Ensembl ENCODE 13.7 +0.7 679 2.3 ARID4B THRB ZNF48 RARA SLC30A9 THAP11 KLF11 HMG20B SP5 MXD4 EME2 HAGH IGFALS HN1L SPSB3
GH16F001825 1.2 ENCODE 12.4 -33.6 -33645 6.9 CREB3L1 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC FAHD1 HAGH IFT140 HN1L ENSG00000260954 ENSG00000261505 ENSG00000226890 ENSG00000200059 ENSG00000261240 PRSS29P
GH16F001855 0.4 ENCODE 11.9 -60.7 -60746 0.8 FAHD1 HAGH HS3ST6 MEIOB IGFALS MSRB1 NDUFB10 RPL3L GC16M001851 ENSG00000260541
GH16F001832 0.2 ENCODE 11.8 -38.5 -38473 1.7 PKNOX1 ATF1 ARNT MLX ARID4B ZNF48 ZNF121 ELK1 GATA2 SP5 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 HN1L GC16M001827 GC16M001829 PIR46763
GH16F001894 0.2 ENCODE 11.3 -99.5 -99477 0.0 HDAC1 ESRRA PKNOX1 TAL1 BACH1 FOSL1 ZNF316 NCOR1 ADNP NFE2 HS3ST6 IGFALS FAHD1 HAGH GC16M001894 GC16P001892
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers 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

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

  • Abcam antibodies for IGFALS
  • Santa Cruz Biotechnology (SCBT) Antibodies for IGFALS

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.

Gene Ontology (GO) - Molecular Function for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005615 extracellular space TAS 1384485
GO:0005654 nucleoplasm IDA --
GO:0042567 insulin-like growth factor ternary complex IDA 9497324
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: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

No data available for SIGNOR curated interactions for IGFALS Gene

Drugs & Compounds for IGFALS Gene

(1) Drugs for IGFALS Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with IGFALS: view

Transcripts for IGFALS Gene

mRNA/cDNA for IGFALS Gene

(2) 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:

Inhibitory RNA Products

Clone 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



Protein tissue co-expression partners for IGFALS Gene

NURSA nuclear receptor signaling pathways regulating expression of IGFALS Gene:

IGFALS

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

Primer 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 34 35
  • 98.25 (n)
cow
(Bos Taurus)
Mammalia IGFALS 34 35
  • 80.1 (n)
dog
(Canis familiaris)
Mammalia IGFALS 34 35
  • 79.81 (n)
mouse
(Mus musculus)
Mammalia Igfals 34 16 35
  • 79.39 (n)
rat
(Rattus norvegicus)
Mammalia Igfals 34
  • 79.39 (n)
oppossum
(Monodelphis domestica)
Mammalia IGFALS 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGFALS 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGFALS 34 35
  • 68.74 (n)
lizard
(Anolis carolinensis)
Reptilia IGFALS 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igfals 34
  • 61.97 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-66h3.1 34
  • 56.21 (n)
IGFALS 35
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 34
  • 42.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta Toll-7 36
  • 31 (a)
18w 36
  • 30 (a)
BG:DS03192.2 36
  • 30 (a)
CG7896 36
  • 30 (a)
CG8561 36
  • 30 (a)
CG5195 36
  • 29 (a)
trn 36
  • 29 (a)
CG6749 36
  • 28 (a)
Tollo 36
  • 28 (a)
CG9562 36
  • 27 (a)
haf 35
  • 8 (a)
OneToMany
Species where no ortholog for IGFALS was found in the sources mined by GeneCards:
  • 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
rs121909247 Acid-labile subunit deficiency (ACLSD) [MIM:615961], Pathogenic 1,790,800(-) GGGAC(C/T)GTGGC nc-transcript-variant, reference, missense
rs551618643 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,791,591(+) CGCGG(C/T)TGTGG nc-transcript-variant, reference, missense
rs766004600 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,792,200(+) CGCCC(A/G)GGACT nc-transcript-variant, reference, missense
rs774634302 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,791,688(+) CTGGA(A/G)CCGGG nc-transcript-variant, reference, missense
rs776840046 Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,791,100(+) CAGGT(C/T)GAGCT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv4856n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1042986 CNV loss 25217958
nsv1051692 CNV loss 25217958
nsv1160328 CNV deletion 26073780
nsv457336 CNV loss 19166990
nsv471069 CNV loss 18288195
nsv482185 CNV gain 20164927
nsv517196 CNV gain+loss 19592680
nsv518641 CNV loss 19592680
nsv571170 CNV loss 21841781
nsv571171 CNV gain+loss 21841781
nsv571172 CNV loss 21841781
nsv827500 CNV gain 20364138
nsv952900 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
IGFALS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
3-m syndrome 1
  • 3-m syndrome
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. 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 22 46 64
  2. 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 4 22 64
  3. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. (PMID: 18303074) Heath K.E. … Campos-Barros A. (J. Clin. Endocrinol. Metab. 2008) 3 4 22 64
  4. Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes. (PMID: 18349294) Chia V.M. … McGlynn K.A. (Cancer Epidemiol. Biomarkers Prev. 2008) 3 22 46 64
  5. 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 22 46 64

Products for IGFALS Gene

Sources for IGFALS Gene

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