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Aliases for ANOS1 Gene

Aliases for ANOS1 Gene

  • Anosmin 1 2 3 5
  • Kallmann Syndrome Interval Gene 1 2 3
  • WAP Four-Disulfide Core Domain 19 2 3
  • Adhesion Molecule-Like X-Linked 3 4
  • Kallmann Syndrome Protein 3 4
  • Anosmin-1 2 3
  • ADMLX 3 4
  • KAL1 3 4
  • KAL 3 4
  • Kallmann Syndrome-1 Sequence (Anosmin-1) 3
  • Adhesion Molecule-Like, X-Linked 2
  • Kallmann Syndrome 1 Sequence 2
  • KALIG-1 3
  • WFDC19 3
  • KALIG1 4
  • HH1 3
  • HHA 3
  • KMS 3

External Ids for ANOS1 Gene

Previous HGNC Symbols for ANOS1 Gene

  • KAL
  • KAL1

Summaries for ANOS1 Gene

Entrez Gene Summary for ANOS1 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]

GeneCards Summary for ANOS1 Gene

ANOS1 (Anosmin 1) is a Protein Coding gene. Diseases associated with ANOS1 include Hypogonadotropic Hypogonadism 1 With Or Without Anosmia and Kallmann Syndrome. Among its related pathways are Negative regulation of FGFR1 signaling and Signaling by FGFR2. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent.

UniProtKB/Swiss-Prot for ANOS1 Gene

  • Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.

Additional gene information for ANOS1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANOS1 Gene

Genomics for ANOS1 Gene

GeneHancer (GH) Regulatory Elements for ANOS1 Gene

Promoters and enhancers for ANOS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ008730 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 656.9 +0.5 485 1.8 CTCF PKNOX1 POLR2A GLIS1 NFYC SP2 ZBTB26 ZBTB20 ANOS1 PIR50496
GH0XJ008731 Enhancer 0.2 Ensembl 650.7 +1.9 1885 0.2 ANOS1 PIR50496
GH0XJ008733 Enhancer 0.2 Ensembl 650.7 -0.9 -915 0.2 ANOS1 PIR56290
GH0XJ008846 Enhancer 0.7 dbSUPER 4.3 -117.5 -117502 6.1 CTCF FOXA2 JUN MAX RAD21 BRCA1 YY1 GTF3C2 FOSL2 NR2F6 ANOS1 PNPLA4 LOC100128808 FAM9A
GH0XJ008673 Enhancer 0.5 ENCODE 4.8 +57.9 57883 2 CREB1 ATF7 MNT ATF2 ANOS1 PIR50496
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANOS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ANOS1 Gene

Genomic Locations for ANOS1 Gene
203,313 bases
Minus strand
203,313 bases
Minus strand

Genomic View for ANOS1 Gene

Genes around ANOS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANOS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANOS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANOS1 Gene

Proteins for ANOS1 Gene

  • Protein details for ANOS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2RPF8

    Protein attributes for ANOS1 Gene

    680 amino acids
    Molecular mass:
    76112 Da
    Quaternary structure:
    • Interacts with FGFR1; this interaction does not interfere with FGF2-binding to FGFR1. Binds heparin. Heparin may promote or interfere with ANOS1-FGFR1-FGF2 complex formation depending on the sequential order of its binding to the various constituents. For instance, heparin-ANOS1 interaction favors subsequent binding to pre-existing binary FGFR1-FGF2 complex, while heparin-FGF2 complex does not interact with ANOS1-FGFR1.

    Three dimensional structures from OCA and Proteopedia for ANOS1 Gene

neXtProt entry for ANOS1 Gene

Post-translational modifications for ANOS1 Gene

  • N-glycosylated.
  • May be proteolytically cleaved at the cell surface and released from the cell surface.
  • Glycosylation at posLast=564564, Asn553, posLast=470470, posLast=300300, Asn209, and Asn71
  • Modification sites at PhosphoSitePlus

Other Protein References for ANOS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANOS1 Gene

Domains & Families for ANOS1 Gene

Gene Families for ANOS1 Gene

Protein Domains for ANOS1 Gene

Suggested Antigen Peptide Sequences for ANOS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANOS1: view

No data available for UniProtKB/Swiss-Prot for ANOS1 Gene

Function for ANOS1 Gene

Molecular function for ANOS1 Gene

UniProtKB/Swiss-Prot Function:
Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.

Phenotypes From GWAS Catalog for ANOS1 Gene

Gene Ontology (GO) - Molecular Function for ANOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005201 extracellular matrix structural constituent TAS 8842728
GO:0005515 protein binding IPI 19696444
GO:0008201 heparin binding IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with ANOS1: view
genes like me logo Genes that share phenotypes with ANOS1: view

Human Phenotype Ontology for ANOS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANOS1 Gene

Localization for ANOS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANOS1 Gene

Cell membrane; Peripheral membrane protein. Secreted. Note=Proteolytic cleavage may release it from the cell surface into the extracellular space.

Subcellular locations from

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 ANOS1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 3
cytosol 3
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ANOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 8842728
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ANOS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANOS1 Gene

Pathways & Interactions for ANOS1 Gene

genes like me logo Genes that share pathways with ANOS1: view

Gene Ontology (GO) - Biological Process for ANOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis TAS 8842728
GO:0007155 cell adhesion IEA,TAS --
GO:0007411 axon guidance TAS 1922361
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0010466 negative regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with ANOS1: view

No data available for SIGNOR curated interactions for ANOS1 Gene

Drugs & Compounds for ANOS1 Gene

(2) Drugs for ANOS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for ANOS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANOS1: view

Transcripts for ANOS1 Gene

mRNA/cDNA for ANOS1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANOS1 Gene

No ASD Table

Relevant External Links for ANOS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANOS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANOS1 Gene

Protein differential expression in normal tissues from HIPED for ANOS1 Gene

This gene is overexpressed in Testis (50.1), Prostate (9.7), and Fetal Brain (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANOS1 Gene

Protein tissue co-expression partners for ANOS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANOS1 Gene:


mRNA Expression by UniProt/SwissProt for ANOS1 Gene:

Tissue specificity: Expressed in the cerebellum (at protein level).

Evidence on tissue expression from TISSUES for ANOS1 Gene

  • Nervous system(4.6)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANOS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANOS1: view

No data available for mRNA differential expression in normal tissues for ANOS1 Gene

Orthologs for ANOS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANOS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KAL1 34 33
  • 97.15 (n)
(Monodelphis domestica)
Mammalia KAL1 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
-- 34
  • 61 (a)
(Canis familiaris)
Mammalia KAL1 34 33
  • 81.96 (n)
(Bos Taurus)
Mammalia KAL1 34
  • 81 (a)
LOC525898 33
  • 79.24 (n)
(Gallus gallus)
Aves KAL1 34 33
  • 74.2 (n)
(Anolis carolinensis)
Reptilia KAL1 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kal1 33
  • 70.73 (n)
(Danio rerio)
Actinopterygii kal1a 34 33
  • 60.83 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Kal1 34
  • 23 (a)
(Caenorhabditis elegans)
Secernentea kal-1 34 33
  • 42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
Species where no ortholog for ANOS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ANOS1 Gene

Gene Tree for ANOS1 (if available)
Gene Tree for ANOS1 (if available)
Evolutionary constrained regions (ECRs) for ANOS1: view image

Paralogs for ANOS1 Gene Pseudogenes for ANOS1 Gene

genes like me logo Genes that share paralogs with ANOS1: view

No data available for Paralogs for ANOS1 Gene

Variants for ANOS1 Gene

Sequence variations from dbSNP and Humsavar for ANOS1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1043292415 uncertain-significance, Kallmann syndrome 1 8,597,166(-) G/C coding_sequence_variant, missense_variant
rs1057519373 uncertain-significance, Kallmann syndrome 1 8,597,171(-) G/A coding_sequence_variant, missense_variant
rs1057519418 likely-pathogenic, Kallmann syndrome 1 8,534,399(-) T/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057520209 likely-pathogenic, Kallmann syndrome 1 8,731,892(-) A/G coding_sequence_variant, missense_variant
rs1057520210 pathogenic, Kallmann syndrome 1 8,732,004(-) /T coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ANOS1 Gene

Variant ID Type Subtype PubMed ID
nsv6789 CNV deletion 18451855
nsv520929 CNV gain 19592680
nsv518704 CNV gain 19592680
nsv513762 CNV insertion 21212237
nsv1150887 CNV deletion 26484159
nsv1139391 CNV deletion 24896259
nsv1110073 CNV deletion 24896259
esv991240 CNV gain 20482838
esv3576765 CNV gain 25503493
esv3573558 CNV loss 25503493
esv3573557 CNV loss 25503493
esv3573556 CNV loss 25503493
esv3573555 CNV loss 25503493
esv3573554 CNV loss 25503493
esv3558597 CNV deletion 23714750
esv28971 CNV gain 19812545
esv2752339 CNV gain 17911159
esv2739945 CNV deletion 23290073
esv1378554 CNV insertion 17803354
esv1005860 CNV insertion 20482838

Variation tolerance for ANOS1 Gene

Residual Variation Intolerance Score: 92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANOS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANOS1 Gene

Disorders for ANOS1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ANOS1 Gene - From: HGMD, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 1 with or without anosmia
  • kms
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
normosmic congenital hypogonadotropic hypogonadism
  • isolated congenital gonadotropin deficiency
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
- elite association - COSMIC cancer census association via MalaCards
Search ANOS1 in MalaCards View complete list of genes associated with diseases


  • Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:11297579, ECO:0000269 PubMed:15001591, ECO:0000269 PubMed:15471890, ECO:0000269 PubMed:15605412, ECO:0000269 PubMed:17054399, ECO:0000269 PubMed:17213338, ECO:0000269 PubMed:17223984, ECO:0000269 PubMed:19696444, ECO:0000269 PubMed:20530987, ECO:0000269 PubMed:21168128, ECO:0000269 PubMed:23643382, ECO:0000269 PubMed:25077900, ECO:0000269 PubMed:8504298, ECO:0000269 PubMed:8989261, ECO:0000269 PubMed:9589672}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in ANOS1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

Additional Disease Information for ANOS1

genes like me logo Genes that share disorders with ANOS1: view

No data available for Genatlas for ANOS1 Gene

Publications for ANOS1 Gene

  1. Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. (PMID: 17223984) Versiani BR … de Castro M (Clinical endocrinology 2007) 3 4 22 58
  2. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). (PMID: 15605412) Albuisson J … Dodé C (Human mutation 2005) 3 4 22 58
  3. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. (PMID: 15471890) Cariboni A … Maggi R (Human molecular genetics 2004) 3 4 22 58
  4. Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1. (PMID: 11463336) Robertson A … Bouloux PM (The Biochemical journal 2001) 2 3 22 58
  5. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. (PMID: 11297579) Oliveira LM … Vallejo M (The Journal of clinical endocrinology and metabolism 2001) 3 4 22 58

Products for ANOS1 Gene

Sources for ANOS1 Gene

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