Human Gene IGFALS (ENST00000215539.4) from GENCODE V44
  Description: Homo sapiens insulin like growth factor binding protein acid labile subunit (IGFALS), transcript variant 2, mRNA. (from RefSeq NM_004970)
RefSeq Summary (NM_004970): 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].
Gencode Transcript: ENST00000215539.4
Gencode Gene: ENSG00000099769.6
Transcript (Including UTRs)
   Position: hg38 chr16:1,790,413-1,793,705 Size: 3,293 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr16:1,790,600-1,793,652 Size: 3,053 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:1,790,413-1,793,705)mRNA (may differ from genome)Protein (605 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALS_HUMAN
DESCRIPTION: RecName: Full=Insulin-like growth factor-binding protein complex acid labile subunit; Short=ALS; Flags: Precursor;
FUNCTION: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
SUBUNIT: Forms a ternary complex of about 140 to 150 kDa with IGF- I or IGF-II and IGFBP-3.
SUBCELLULAR LOCATION: Secreted, extracellular space.
TISSUE SPECIFICITY: Plasma.
SIMILARITY: Contains 19 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 LRRCT domain.
SIMILARITY: Contains 1 LRRNT domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IGFALS
Diseases sorted by gene-association score: acid-labile subunit, deficiency of* (1650), 3-m syndrome 1 (5), noonan syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.72 RPKM in Liver
Total median expression: 67.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.9053-0.357 Picture PostScript Text
3' UTR -68.10187-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000483 - Cys-rich_flank_reg_C
IPR001611 - Leu-rich_rpt
IPR003591 - Leu-rich_rpt_typical-subtyp
IPR000372 - LRR-contain_N

Pfam Domains:
PF00560 - Leucine Rich Repeat
PF01462 - Leucine rich repeat N-terminal domain

ModBase Predicted Comparative 3D Structure on P35858
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005520 insulin-like growth factor binding

Biological Process:
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0044267 cellular protein metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0042567 insulin-like growth factor ternary complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC025681 - Homo sapiens insulin-like growth factor binding protein, acid labile subunit, mRNA (cDNA clone MGC:34474 IMAGE:5205012), complete cds.
M86826 - Human IGF binding protein complex acid-labile subunit a mRNA, complete cds.
AK292182 - Homo sapiens cDNA FLJ78146 complete cds, highly similar to Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), mRNA.
AK315808 - Homo sapiens cDNA, FLJ79457 complete cds, highly similar to Insulin-like growth factor-binding proteincomplex acid labile chain precursor.
AK303146 - Homo sapiens cDNA FLJ53888 complete cds, highly similar to Insulin-like growth factor-binding proteincomplex acid labile chain precursor.
JD227007 - Sequence 208031 from Patent EP1572962.
JD401266 - Sequence 382290 from Patent EP1572962.
JD125162 - Sequence 106186 from Patent EP1572962.
AK313198 - Homo sapiens cDNA, FLJ93697, highly similar to Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), mRNA.
DQ891534 - Synthetic construct clone IMAGE:100004164; FLH177807.01X; RZPDo839E03126D insulin-like growth factor binding protein, acid labile subunit (IGFALS) gene, encodes complete protein.
DQ894723 - Synthetic construct Homo sapiens clone IMAGE:100009183; FLH177803.01L; RZPDo839E03125D insulin-like growth factor binding protein, acid labile subunit (IGFALS) gene, encodes complete protein.
AB464593 - Synthetic construct DNA, clone: pF1KB7057, Homo sapiens IGFALS gene for insulin-like growth factor binding protein, acid labile subunit, without stop codon, in Flexi system.
AK309598 - Homo sapiens cDNA, FLJ99639.
JD423224 - Sequence 404248 from Patent EP1572962.
JD239857 - Sequence 220881 from Patent EP1572962.
JD173685 - Sequence 154709 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ghrelinPathway - Ghrelin: Regulation of Food Intake and Energy Homeostasis

Reactome (by CSHL, EBI, and GO)

Protein P35858 (Reactome details) participates in the following event(s):

R-HSA-381496 Formation of the IGF:IGFBP3:ALS complex
R-HSA-381545 Formation of the IGF:IGFBP5:ALS complex
R-HSA-381435 Matrix metalloproteinase proteolyzes IGF:IGFBP3:ALS
R-HSA-381446 Thrombin proteolyzes IGF:IGFBP3:ALS
R-HSA-381461 Plasmin proteolyzes IGF:IGFBP-3:ALS
R-HSA-381466 Prostate-specific Antigen proteolyzes IGF:IGFBP3:ALS
R-HSA-381500 Cathepsin G proteolyzes IGF:IGFBP3:ALS
R-HSA-381537 PAPP-A2 proteolyzes IGF:IGFBP5:ALS
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ALS, ALS_HUMAN, ENST00000215539.1, ENST00000215539.2, ENST00000215539.3, NM_004970, P35858, uc002cmy.1, uc002cmy.2, uc002cmy.3, uc002cmy.4, uc002cmy.5
UCSC ID: ENST00000215539.4
RefSeq Accession: NM_004970
Protein: P35858 (aka ALS_HUMAN)
CCDS: CCDS10446.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.