Seroatlas · Human Serome Atlas

IGFALS

Insulin-like growth factor-binding protein complex acid labile subunit

Also known as: ALS, ALS_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P35858
Gene: IGFALS
Ensembl: ENSG00000099769
Chromosome: 16
Canonical length: 605 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted to blood

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

605 residues, UniProt reviewed canonical sequence.

>P35858|IGFALS
     1  MALRKGGLAL ALLLLSWVAL GPRSLEGADP GTPGEAEGPA CPAACVCSYD DDADELSVFC
    61  SSRNLTRLPD GVPGGTQALW LDGNNLSSVP PAAFQNLSSL GFLNLQGGQL GSLEPQALLG
   121  LENLCHLHLE RNQLRSLALG TFAHTPALAS LGLSNNRLSR LEDGLFEGLG SLWDLNLGWN
   181  SLAVLPDAAF RGLGSLRELV LAGNRLAYLQ PALFSGLAEL RELDLSRNAL RAIKANVFVQ
   241  LPRLQKLYLD RNLIAAVAPG AFLGLKALRW LDLSHNRVAG LLEDTFPGLL GLRVLRLSHN
   301  AIASLRPRTF KDLHFLEELQ LGHNRIRQLA ERSFEGLGQL EVLTLDHNQL QEVKAGAFLG
   361  LTNVAVMNLS GNCLRNLPEQ VFRGLGKLHS LHLEGSCLGR IRPHTFTGLS GLRRLFLKDN
   421  GLVGIEEQSL WGLAELLELD LTSNQLTHLP HRLFQGLGKL EYLLLSRNRL AELPADALGP
   481  LQRAFWLDVS HNRLEALPNS LLAPLGRLRY LSLRNNSLRT FTPQPPGLER LWLEGNPWDC
   541  GCPLKALRDF ALQNPSAVPR FVQAICEGDD CQPPAYTYNN ITCASPPEVV GLDLRDLSEA
   601  HFAPC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IGFALS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 113 nTPM

Expression across tissuesHPA

Tissue

liver: 113 nTPM
stomach: 11 nTPM
pancreas: 2.4 nTPM
cerebellum: 2.2 nTPM
testis: 1.9 nTPM
gallbladder: 1.5 nTPM

Single-cell type

hepatocytes: 0.4 nCPM
foveolar cells: 0.3 nCPM
cardiomyocytes: 0.2 nCPM
breast hormone-responsive cells: 0.1 nCPM
distal convoluted tubule cells: 0.1 nCPM
macrophages: 0.1 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

white matter: 5.5 nTPM
cerebellum: 4.8 nTPM
basal ganglia: 3.7 nTPM
cerebral cortex: 3.7 nTPM
choroid plexus: 3.7 nTPM
pons: 3.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IGFALS.

Disease | AllUniProt

Conditions IGFALS is implicated in, by any mechanism.

Acid-labile subunit deficiency (ACLSD) MIM:615961

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 307 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Short stature due to primary acid-labile subunit deficiency
Monogenic short statue

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.84
gnomAD pLI: 0
gnomAD missense Z: -1.22
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads IGFALS as an antibody target. Whether an autoantibody or antibody against IGFALS could matter depends on whether native IGFALS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

IGFALS is annotated as secreted, so native IGFALS circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label IGFALS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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