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 pube... See more...

Aliases for IGFALS Gene

Aliases for IGFALS Gene

  • Insulin Like Growth Factor Binding Protein Acid Labile Subunit 2 3 5
  • ALS 2 3 4
  • Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit 3 4
  • Insulin-Like Growth Factor Binding Protein Complex Acid Labile Chain 3
  • Insulin-Like Growth Factor Binding Protein, Acid Labile Subunit 2
  • IGFALS 5
  • 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 and Laron Syndrome. Among its related pathways are Relaxin signaling pathway and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is TLR8.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for IGFALS Gene

Genomics for IGFALS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGFALS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001793 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 613.6 +0.6 609 2.5 HNRNPL GATAD2A TFE3 FOXA1 RBFOX2 RXRB SP1 SOX13 TAF1 TGIF2 IGFALS SPSB3 EME2 HAGH JPT2
GH16J001790 Promoter 0.4 EPDnew 600.7 +4.1 4058 0.1 RBFOX2 IGFALS lnc-IGFALS-1 SPSB3 NUBP2
GH16J001825 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 -33.6 -33644 6.9 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 REST ZNF629 TFE3 ZNF512 FAHD1 HAGH CRAMP1 TELO2 ENSG00000261505 UBE2I SRRM2 ENSG00000260051 E4F1 UNKL
GH16J001769 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.3 +22.4 22420 6.4 ARHGAP35 SP1 CREB1 CTCF ZBTB33 HNRNPL TEAD4 ZNF629 PRDM10 SIX5 EME2 NME3 NONHSAG018276.2 MRPS34 CRAMP1 ENSG00000260051 ENSG00000261505 TELO2 UNKL UBE2I
GH16J001832 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.9 -38.4 -38429 2 RNF2 ARHGAP35 GATAD2A TFE3 LEF1 IKZF1 JUND DDX20 MTA2 ZIC2 FAHD1 HAGH ENSG00000261505 HS3ST6 IGFALS MEIOB MAPK8IP3 GNPTG TSR3 TELO2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGFALS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGFALS

Top Transcription factor binding sites by QIAGEN in the IGFALS gene promoter:
  • CP2
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT5B
  • YY1

Genomic Locations for IGFALS Gene

Genomic Locations for IGFALS Gene
chr16:1,790,413-1,794,971
(GRCh38/hg38)
Size:
4,559 bases
Orientation:
Minus strand
chr16:1,840,414-1,844,972
(GRCh37/hg19)
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 Asn64, Asn85, Asn96, Asn368, Asn515, and Asn580
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for IGFALS Gene

Antibody Products

  • Abcam antibodies for IGFALS
  • Boster Bio 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

Gene Families for IGFALS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for IGFALS Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for IGFALS Gene

GenScript: Design optimal peptide antigens:
  • Insulin-like growth factor-binding protein complex acid labile subunit (ALS_HUMAN)
  • Insulin-like growth factor binding protein, acid labile subunit (Q8TAY0_HUMAN)
genes like me logo Genes that share domains with IGFALS: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for IGFALS Gene

Gene Ontology (GO) - Molecular Function for IGFALS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0005520 insulin-like growth factor binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGFALS

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 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 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,IBA 21873635
GO:0031012 extracellular matrix IBA 21873635
GO:0042567 insulin-like growth factor ternary complex IBA,IDA 9497324
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with IGFALS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IGFALS Gene

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

(6) Drugs for IGFALS Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249
Mecasermin Approved, Investigational Pharma Carrier 36
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, inducer 0

(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

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IGFALS

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

No ASD Table

Relevant External Links for IGFALS Gene

GeneLoc Exon Structure for
IGFALS

Expression for IGFALS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for IGFALS Gene



Protein tissue co-expression partners for IGFALS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Bone marrow(4.2)
  • Blood(2.3)
  • Nervous system(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • reproductive
  • urinary
Regions:
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

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 30 31
  • 98.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IGFALS 30 31
  • 80.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IGFALS 30 31
  • 79.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Igfals 30 17 31
  • 79.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Igfals 30
  • 79.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia IGFALS 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IGFALS 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IGFALS 30 31
  • 68.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IGFALS 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia igfals 30
  • 61.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-66h3.1 30
  • 56.21 (n)
IGFALS 31
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 30
  • 42.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Toll-7 32
  • 31 (a)
CG7896 32
  • 30 (a)
18w 32
  • 30 (a)
BG:DS03192.2 32
  • 30 (a)
CG8561 32
  • 30 (a)
trn 32
  • 29 (a)
CG5195 32
  • 29 (a)
CG6749 32
  • 28 (a)
Tollo 32
  • 28 (a)
CG9562 32
  • 27 (a)
haf 31
  • 8 (a)
OneToMany
Species where no ortholog for IGFALS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for IGFALS: view image

Paralogs for IGFALS Gene

(1) SIMAP similar genes for IGFALS Gene using alignment to 3 proteins:

  • ALS_HUMAN
  • H3BSX8_HUMAN
  • Q8TAY0_HUMAN

Pseudogenes.org Pseudogenes for IGFALS Gene

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

Variants for IGFALS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGFALS Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
711955 Benign: not provided 1,790,957(-) C/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
714690 Benign: not provided 1,792,405(-) C/CG FRAMESHIFT_VARIANT,INTRON_VARIANT
716575 Likely Benign: not provided 1,792,067(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
718756 Conflicting Interpretations: Acid-labile subunit deficiency; not provided 1,790,982(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
723901 Likely Benign: not provided 1,790,849(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IGFALS Gene

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)

Additional Variant Information 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

(4) MalaCards diseases for IGFALS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acid-labile subunit deficiency
  • aclsd
laron syndrome
  • growth hormone insensitivity syndrome
body dysmorphic disorder
  • body dysmorphia
amyotrophic lateral sclerosis 1
  • als1
- 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.

Additional Disease Information for IGFALS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 VN (BMC medical genomics 2010) 3 23 41
  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 OV … Rosenfeld RG (Hormone research 2009) 3 4 23
  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 KE … Campos-Barros A (The Journal of clinical endocrinology and metabolism 2008) 3 4 23
  4. Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes. (PMID: 18349294) Chia VM … McGlynn KA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 23 41
  5. Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. (PMID: 17726072) Domené HM … Jasper HG (The Journal of clinical endocrinology and metabolism 2007) 3 4 23

Products for IGFALS Gene

  • Signalway ELISA kits for IGFALS

Sources for IGFALS Gene