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
  • Insulin-Like Growth Factor-Binding Protein Complex Acid Labile Subunit 3 4
  • ALS 3 4
  • 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 and Body Dysmorphic Disorder. 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. Gene Ontology (GO) annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is LRRC32.

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

Additional gene information 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 for IGFALS Gene

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 763.5 +0.6 609 2.5 NR2F1 NR2F6 ZNF652 RERE SP1 MAFK TFE3 SP5 RXRA GATAD2A IGFALS SPSB3 EME2 HAGH JPT2
GH16J001790 Promoter 0.3 EPDnew 750.6 +4.1 4058 0.1 IGFALS lnc-IGFALS-1 SPSB3
GH16J001825 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 -33.6 -33644 6.9 ZNF785 SIN3A SP1 ZBTB40 SREBF1 SIX5 ZBTB6 LCORL FOXA1 MLX FAHD1 HAGH CRAMP1 ENSG00000261505 TELO2 E4F1 ENSG00000260051 TSC2 SRRM2 UBE2I
GH16J001769 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.3 +22.4 22420 6.4 SP1 ZBTB40 CTCF SIX5 MLX RBPJ POLR2A CTBP1 HCFC1 MIXL1 EME2 MRPS34 NME3 NONHSAG018276.2 ENSG00000261505 ENSG00000260051 SRRM2 ENSG00000260954 ENSG00000255513 SNORA64
GH16J001832 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.8 -38.4 -38429 2 MLX RBPJ SMARCE1 NR2F6 MIXL1 RUNX1 CC2D1A L3MBTL2 DACH1 TEAD4 FAHD1 HAGH CRAMP1 TELO2 TSC2 UNKL E4F1 UBE2I IFT140 HS3ST6
- 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 UCSC Golden Path with GeneCards custom track

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

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

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: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

Clone 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 4
plasma membrane 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,TAS 21873635
GO:0005654 nucleoplasm IDA --
GO:0031012 extracellular matrix IBA 21873635
GO:0042567 insulin-like growth factor ternary complex IBA,IDA 9497324
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

(5) Drugs for IGFALS Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 227
Mecasermin Approved, Investigational Pharma Carrier 108
Zinc Approved, Investigational Pharma Target 2741
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 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) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(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

Clone 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 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
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 33 32
  • 98.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IGFALS 33 32
  • 80.1 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IGFALS 33 32
  • 79.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Igfals 17 33 32
  • 79.39 (n)
rat
(Rattus norvegicus)
Mammalia Igfals 32
  • 79.39 (n)
oppossum
(Monodelphis domestica)
Mammalia IGFALS 33
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGFALS 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGFALS 33 32
  • 68.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGFALS 33
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igfals 32
  • 61.97 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-66h3.1 32
  • 56.21 (n)
IGFALS 33
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 32
  • 42.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta Toll-7 34
  • 31 (a)
CG8561 34
  • 30 (a)
CG7896 34
  • 30 (a)
BG:DS03192.2 34
  • 30 (a)
18w 34
  • 30 (a)
trn 34
  • 29 (a)
CG5195 34
  • 29 (a)
Tollo 34
  • 28 (a)
CG6749 34
  • 28 (a)
CG9562 34
  • 27 (a)
haf 33
  • 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)
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 from dbSNP and Humsavar for IGFALS Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs121909247 pathogenic, Acid-labile subunit deficiency, Acid-labile subunit deficiency (ACLSD) [MIM:615961] 1,790,800(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs143070371 uncertain-significance, Acid-labile subunit deficiency 1,790,710(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs17559 benign, Acid-labile subunit deficiency 1,791,032(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs184411457 uncertain-significance, Acid-labile subunit deficiency 1,791,825(-) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs189350550 uncertain-significance, Acid-labile subunit deficiency 1,792,319(-) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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
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 43 56
  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 56
  3. 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 43 56
  4. 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 56
  5. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation. (PMID: 17546465) Lettre G … Hirschhorn JN (Human genetics 2007) 3 23 43 56

Products for IGFALS Gene

Sources for IGFALS Gene