Free for academic non-profit institutions. Other users need a Commercial license

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 Metabolism of proteins 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 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 CIViC summary , 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
GH16G001825 1.4 ENCODE dbSUPER 12.4 -33.6 -33645 6.9 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 FAHD1 HAGH JPT2 ENSG00000261505 ENSG00000261123 IFT140 ENSG00000260646 SNORA64 ENSG00000260954 ENSG00000255513
GH16G001832 1.3 ENCODE dbSUPER 11.8 -38.5 -38473 1.7 FOXA2 PKNOX1 MLX ARNT ARID4B ZNF766 KLF13 SP5 ZHX2 SMARCB1 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 JPT2 GC16M001827 PIR46763 GC16M001829
GH16G001793 0.9 ENCODE 13.6 +0.7 679 2.3 FOXA2 ARID4B THRB ZNF48 RAD21 RARA YY1 SLC30A9 THAP11 KLF11 EME2 HAGH IGFALS JPT2 SPSB3
GH16G001893 1 FANTOM5 11.1 -98.5 -98455 0.2 HDGF ATF1 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B YY1 SLC30A9 HAGH HS3ST6 IGFALS GC16M001894 GC16P001892
GH16G001769 1.4 ENCODE dbSUPER 7.3 +22.4 22420 6.4 HDGF PKNOX1 ARNT CREB3L1 AGO1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 EME2 ENSG00000261505 ENSG00000260051 ENSG00000260954 ENSG00000255513 SNORA64 FAHD1 HAGH JPT2 SNORD60
- Elite enhancer and/or Elite enhancer-gene association 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 posLast=6464, posLast=8585, isoforms=296, posLast=368368, posLast=515515, and posLast=580580
  • 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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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

CRISPR 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGFALS gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1
lysosome 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:

CRISPR Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for IGFALS Gene

  • Liver(4.5)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGFALS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
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)
BG:DS03192.2 36
  • 30 (a)
CG7896 36
  • 30 (a)
CG8561 36
  • 30 (a)
18w 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 Pathogenic, Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,790,800(-) GGGAC(C/T)GTGGC nc-transcript-variant, reference, missense
rs551618643 Likely pathogenic, 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, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
3-m syndrome 1
  • 3-m syndrome
noonan syndrome 1
  • ns1
- 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

Content
Loading form....