ANOS1
Anosmin-1
Also known as: ADMLX, KAL, KAL1, KALIG-1, KALM_HUMAN, WFDC19
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P23352
- Gene
- ANOS1
- Ensembl
- ENSG00000011201
- Chromosome
- X
- Canonical length
- 680 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted in brain
OverviewNCBI Gene
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
680 residues, UniProt reviewed canonical sequence.
>P23352|ANOS1
1 MVPGVPGAVL TLCLWLAASS GCLAAGPGAA AARRLDESLS AGSVQRARCA SRCLSLQITR
61 ISAFFQHFQN NGSLVWCQNH KQCSKCLEPC KESGDLRKHQ CQSFCEPLFP KKSYECLTSC
121 EFLKYILLVK QGDCPAPEKA SGFAAACVES CEVDNECSGV KKCCSNGCGH TCQVPKTLYK
181 GVPLKPRKEL RFTELQSGQL EVKWSSKFNI SIEPVIYVVQ RRWNYGIHPS EDDATHWQTV
241 AQTTDERVQL TDIRPSRWYQ FRVAAVNVHG TRGFTAPSKH FRSSKDPSAP PAPANLRLAN
301 STVNSDGSVT VTIVWDLPEE PDIPVHHYKV FWSWMVSSKS LVPTKKKRRK TTDGFQNSVI
361 LEKLQPDCDY VVELQAITYW GQTRLKSAKV SLHFTSTHAT NNKEQLVKTR KGGIQTQLPF
421 QRRRPTRPLE VGAPFYQDGQ LQVKVYWKKT EDPTVNRYHV RWFPEACAHN RTTGSEASSG
481 MTHENYIILQ DLSFSCKYKV TVQPIRPKSH SKAEAVFFTT PPCSALKGKS HKPVGCLGEA
541 GHVLSKVLAK PENLSASFIV QDVNITGHFS WKMAKANLYQ PMTGFQVTWA EVTTESRQNS
601 LPNSIISQSQ ILPSDHYVLT VPNLRPSTLY RLEVQVLTPG GEGPATIKTF RTPELPPSSA
661 HRSHLKHRHP HHYKPSPERYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANOS1 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- lung: 41 nTPM
- retina: 18 nTPM
- cerebral cortex: 18 nTPM
- parathyroid gland: 14 nTPM
- skeletal muscle: 9.8 nTPM
- basal ganglia: 9 nTPM
Single-cell type
- alveolar cells type 1: 340 nCPM
- respiratory basal cells: 288 nCPM
- medullary thymic epithelial cells: 206 nCPM
- microglia: 187 nCPM
- astrocytes: 155 nCPM
- sertoli cells: 120 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
- spinal cord: 41 nTPM
- white matter: 38 nTPM
- pons: 34 nTPM
- medulla oblongata: 32 nTPM
- hypothalamus: 29 nTPM
- midbrain: 27 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ANOS1.
Disease | AllUniProt
Conditions ANOS1 is implicated in, by any mechanism.
- Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) MIM:308700
Disease | GeneticClinVar
95 pathogenic / likely-pathogenic of 480 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypogonadotropic hypogonadism 1 with or without anosmia
- Hypogonadotropic hypogonadism
- ANOS1-related disorder
- Hypogonadotropic hypogonadism 7 with or without anosmia
- Delayed puberty
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)
- 0.25
- gnomAD pLI
- 1
- DepMap mean gene effect
- 0.23
- 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
Molecular functions
- extracellular matrix structural constituent
- heparin binding
- serine-type endopeptidase inhibitor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Fibronectin type III
- WAP-type 'four-disulfide core' domain
- Immunoglobulin-like fold
- Fibronectin type III superfamily
- Elafin-like superfamily
- Fibronectin type III domain
- WAP-type (Whey Acidic Protein) 'four-disulfide core'
- Anosmin-1, cysteine rich domain
- Anosmin-1
- Anosmin cysteine rich domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ANOS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ANOS1 as an antibody target. Whether an autoantibody or antibody against ANOS1 could matter depends on whether native ANOS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANOS1 is annotated at the cell surface, where native ANOS1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ANOS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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