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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 and Noonan 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. Gene Ontology (GO) annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is LRIG1.

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

Additional gene information 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

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
GH16I001793 Promoter/Enhancer 1.3 EPDnew ENCODE 563.7 +0.7 679 2.3 FOXA2 ARID4B THRB ZNF48 RAD21 RARA YY1 SLC30A9 THAP11 HMG20B IGFALS SPSB3 EME2 HAGH JPT2
GH16I001825 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.4 -33.6 -33644 6.9 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 FAHD1 HAGH GC16M001827 GC16M001829 ENSG00000261505 SRRM2 TELO2 ENSG00000260051 CRAMP1 ENSG00000260954
GH16I001769 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 7.3 +22.4 22420 6.4 HDGF PKNOX1 CLOCK ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 EME2 NME3 MRPS34 ENSG00000260051 ENSG00000261505 CRAMP1 TELO2 SRRM2 ENSG00000260646 ENSG00000260954
GH16I001832 Enhancer 1.2 ENCODE dbSUPER 11.9 -38.5 -38472 1.7 PKNOX1 FOXA2 MLX ARNT ARID4B ZNF766 E2F8 SP5 ZNF592 KAT8 FAHD1 HAGH IGFALS MEIOB MAPK8IP3 JPT2 GC16M001827 GC16M001829 PIR46763
GH16I001812 Enhancer 0.9 ENCODE 6.6 -17.7 -17684 0.7 FOXA2 ARID4B SIN3A ZNF48 YY1 GLIS2 ZNF143 ATF7 SP3 RXRA FAHD1 HAGH IGFALS GC16P001819
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IGFALS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGFALS gene promoter:

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)

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 isoforms=2580

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

Gene Families for IGFALS Gene

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 TAS 1384485
GO:0005654 nucleoplasm IDA --
GO:0042567 insulin-like growth factor ternary complex IDA 9497324
GO:0070062 extracellular exosome HDA,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

(3) Drugs for IGFALS Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Zinc Approved, Investigational Pharma Target 2430
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

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
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

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 33 34
  • 98.25 (n)
cow
(Bos Taurus)
Mammalia IGFALS 33 34
  • 80.1 (n)
dog
(Canis familiaris)
Mammalia IGFALS 33 34
  • 79.81 (n)
mouse
(Mus musculus)
Mammalia Igfals 33 16 34
  • 79.39 (n)
rat
(Rattus norvegicus)
Mammalia Igfals 33
  • 79.39 (n)
oppossum
(Monodelphis domestica)
Mammalia IGFALS 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGFALS 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGFALS 33 34
  • 68.74 (n)
lizard
(Anolis carolinensis)
Reptilia IGFALS 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igfals 33
  • 61.97 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-66h3.1 33
  • 56.21 (n)
IGFALS 34
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007059 33
  • 42.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta Toll-7 35
  • 31 (a)
18w 35
  • 30 (a)
BG:DS03192.2 35
  • 30 (a)
CG7896 35
  • 30 (a)
CG8561 35
  • 30 (a)
CG5195 35
  • 29 (a)
trn 35
  • 29 (a)
CG6749 35
  • 28 (a)
Tollo 35
  • 28 (a)
CG9562 35
  • 27 (a)
haf 34
  • 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 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
nsv952900 CNV deletion 24416366
nsv827500 CNV gain 20364138
nsv571172 CNV loss 21841781
nsv571171 CNV gain+loss 21841781
nsv571170 CNV loss 21841781
nsv518641 CNV loss 19592680
nsv517196 CNV gain+loss 19592680
nsv482185 CNV gain 20164927
nsv471069 CNV loss 18288195
nsv457336 CNV loss 19166990
nsv1160328 CNV deletion 26073780
nsv1051692 CNV loss 25217958
nsv1042986 CNV loss 25217958
esv2422427 CNV duplication 17116639
dgv4856n54 CNV loss 21841781

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

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

Disorder Aliases PubMed IDs
acid-labile subunit deficiency
  • aclsd
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.

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 22 44 58
  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 22 58
  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 22 44 58
  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 22 58
  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 22 58

Products for IGFALS Gene

Sources for IGFALS Gene

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