AHSG

Protein identityUniProt · HPA

UniProt accession

P02765

Gene

AHSG

Ensembl

ENSG00000145192

Chromosome

3

Canonical length

367 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins

Subcellular location

Golgi apparatus

Secretome location

Secreted to blood

OverviewNCBI Gene

The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

367 residues, UniProt reviewed canonical sequence.

>P02765|AHSG
     1  MKSLVLLLCL AQLWGCHSAP HGPGLIYRQP NCDDPETEEA ALVAIDYINQ NLPWGYKHTL
    61  NQIDEVKVWP QQPSGELFEI EIDTLETTCH VLDPTPVARC SVRQLKEHAV EGDCDFQLLK
   121  LDGKFSVVYA KCDSSPDSAE DVRKVCQDCP LLAPLNDTRV VHAAKAALAA FNAQNNGSNF
   181  QLEEISRAQL VPLPPSTYVE FTVSGTDCVA KEATEAAKCN LLAEKQYGFC KATLSEKLGG
   241  AEVAVTCMVF QTQPVSSQPQ PEGANEAVPT PVVDPDAPPS PPLGAPGLPP AGSPPDSHVL
   301  LAAPPGHQLH RAHYDLRHTF MGVVSLGSPS GEVSHPRKTR TVVQPSVGAA AGPVVPPCPG
   361  RIRHFKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AHSG 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)

0.41

Highest tissue expression

5,440 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AHSG.

Disease | AllUniProt

Conditions AHSG is implicated in, by any mechanism.

• Alopecia-intellectual disability syndrome 1 (APMR1) MIM:203650

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 80 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Alopecia-intellectual disability syndrome 1

ReferencesPubMed · IEDB

Publications for AHSG from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

1.66

gnomAD pLI

0

gnomAD missense Z

-0.36

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• acute-phase response
• negative regulation of bone mineralization
• negative regulation of insulin receptor signaling pathway
• ossification
• pinocytosis
• positive regulation of phagocytosis
• regulation of bone mineralization
• regulation of inflammatory response
• skeletal system development

Molecular functions

• cysteine-type endopeptidase inhibitor activity
• endopeptidase inhibitor activity
• kinase inhibitor activity

Cellular components

• blood microparticle
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• Golgi apparatus
• platelet alpha granule lumen
• secretory granule lumen

Protein domainsUniProt · Pfam · InterPro

• Cystatin domain
• Proteinase inhibitor I25C, fetuin, conserved site
• Cystatin superfamily
• Kininogen/Fetuin/Histidine-rich Glycoprotein
• Cystatin domain
• Fetuin-A-type cystatin domain

KeywordsUniProt

• Disulfide bond
• Glycoprotein
• Hypotrichosis
• Intellectual disability
• Mineral balance
• Phosphoprotein
• Repeat
• Secreted
• Signal