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Aliases for ANOS1 Gene

Aliases for ANOS1 Gene

  • Anosmin 1 2 3 5
  • WAP Four-Disulfide Core Domain 19 2 3
  • Kallmann Syndrome Interval Gene 1 2 3
  • Adhesion Molecule-Like X-Linked 3 4
  • Kallmann Syndrome Protein 3 4
  • ADMLX 3 4
  • KAL1 3 4
  • KAL 3 4
  • Kallmann Syndrome-1 Sequence (Anosmin-1) 3
  • Kallmann Syndrome 1 Sequence 2
  • Adhesion Molecule-Like 2
  • Anosmin-1 2
  • X-Linked 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
  • ADMLX
  • 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 normosmic congenital hypogonadotropic hypogonadism. Among its related pathways are Signaling by GPCR and Interleukin-3, 5 and GM-CSF signaling. 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.

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

Genomics for ANOS1 Gene

Regulatory Elements for ANOS1 Gene

Promoters for ANOS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANOS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANOS1 Gene

Chromosome:
X
Start:
8,528,874 bp from pter
End:
8,732,187 bp from pter
Size:
203,314 bases
Orientation:
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:
    P23352-KALM_HUMAN
    Recommended name:
    Anosmin-1
    Protein Accession:
    P23352
    Secondary Accessions:
    • B2RPF8

    Protein attributes for ANOS1 Gene

    Size:
    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

Proteomics data for ANOS1 Gene at MOPED

Post-translational modifications for ANOS1 Gene

  • May be proteolytically cleaved at the cell surface and released from the cell surface.
  • N-glycosylated.
  • Glycosylation at Asn 71, Asn 209, Asn 300, Asn 470, Asn 553, and Asn 564
  • 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

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

P23352

UniProtKB/Swiss-Prot:

KALM_HUMAN :
  • Contains 4 fibronectin type-III domains.
Domain:
  • Contains 4 fibronectin type-III domains.
  • Contains 1 WAP domain.
genes like me logo Genes that share domains with ANOS1: view

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

Gene Ontology (GO) - Cellular Components for ANOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
genes like me logo Genes that share ontologies with ANOS1: view

No data available for Subcellular locations from COMPARTMENTS 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:0007155 cell adhesion IEA --
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

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

No ASD Table

Relevant External Links for ANOS1 Gene

GeneLoc Exon Structure for
ANOS1
ECgene alternative splicing isoforms for
ANOS1

Expression for ANOS1 Gene

mRNA expression in normal human tissues 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



mRNA Expression by UniProt/SwissProt for ANOS1 Gene

P23352-KALM_HUMAN
Tissue specificity: Expressed in the cerebellum (at protein level).
genes like me logo Genes that share expression patterns with ANOS1: view

Protein tissue co-expression partners for ANOS1 Gene

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia KAL1 35
  • 97.15 (n)
  • 96.9 (a)
KAL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KAL1 36
  • 81 (a)
OneToOne
LOC525898 35
  • 79.24 (n)
  • 83.36 (a)
dog
(Canis familiaris)
Mammalia KAL1 35
  • 81.96 (n)
  • 84.51 (a)
KAL1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAL1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves KAL1 35
  • 74.2 (n)
  • 77.54 (a)
KAL1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KAL1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kal1 35
  • 70.73 (n)
  • 72.96 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
kal1a 35
  • 60.83 (n)
  • 58.59 (a)
kal1a 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Kal1 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kal-1 36
  • 22 (a)
OneToOne
kal-1 35
  • 42 (n)
  • 30.19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToOne
Species with no ortholog for ANOS1:
  • 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

ENSEMBL:
Gene Tree for ANOS1 (if available)
TreeFam:
Gene Tree for ANOS1 (if available)

Paralogs for ANOS1 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
VAR_007720 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
rs808119 - 8,536,792(-) AGCCT(A/G)TTGGC reference, missense
VAR_012742 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
VAR_031012 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
VAR_031013 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)

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)

Relevant External Links for ANOS1 Gene

HapMap Linkage Disequilibrium report
ANOS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ANOS1 Gene

Disorders for ANOS1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ANOS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ANOS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KALM_HUMAN
  • 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:15605412, ECO:0000269 PubMed:17054399, ECO:0000269 PubMed:17213338, ECO:0000269 PubMed:17223984, 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}.

Relevant External Links for ANOS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. The importance of autosomal genes in Kallmann syndrome: genotype- phenotype correlations and neuroendocrine characteristics. (PMID: 11297579) Oliveira L.M.B. … Vallejo M. (J. Clin. Endocrinol. Metab. 2001) 3 4 23 67
  2. 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 P.M. (Biochem. J. 2001) 2 3 23
  3. Keratinocyte-derived anosmin-1, an extracellular glycoprotein encoded by the X-linked Kallmann syndrome gene, is involved in modulation of epidermal nerve density in atopic dermatitis. (PMID: 20219326) Tengara S. … Takamori K. (J. Dermatol. Sci. 2010) 3 23
  4. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. (PMID: 18723471) Canto P. … MAcndez J.P. (J. Androl. 2009) 3 23
  5. Anosmin-1 involved in neuronal cell migration is hypoxia inducible and cancer regulated. (PMID: 19844165) Jian B. … Raju R. (Cell Cycle 2009) 3 23

Products for ANOS1 Gene

Sources for ANOS1 Gene

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