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Aliases for ANOS1 Gene

Aliases for ANOS1 Gene

  • Anosmin 1 2 3
  • ADMLX 3 4 6
  • KAL1 3 4 6
  • WAP Four-Disulfide Core Domain 19 2 3
  • Kallmann Syndrome Interval Gene 1 2 3
  • Adhesion Molecule-Like X-Linked 3 4
  • Kallmann Syndrome 1 Sequence 2 3
  • Kallmann Syndrome Protein 3 4
  • Anosmin-1 2 3
  • KAL 3 4
  • HH1 3 6
  • KMS 3 6
  • Kallmann Syndrome-1 Sequence (Anosmin-1) 3
  • Adhesion Molecule-Like 2
  • X-Linked 2
  • KALIG-1 3
  • WFDC19 3
  • KALIG1 4
  • HHA 3

External Ids for ANOS1 Gene

Previous 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.

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

Genomic Location for ANOS1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANOS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANOS1 Gene

No data available for Regulatory Elements 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 KAL1-FGFR1-FGF2 complex formation depending on the sequential order of its binding to the various constituents. For instance, heparin-KAL1 interaction favors subsequent binding to pre-existing binary FGFR1-FGF2 complex, while heparin-FGF2 complex does not interact with KAL1-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

Other Protein References for ANOS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANOS1 Gene

Domains for ANOS1 Gene

Gene Families for ANOS1 Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
  • WFDC :WAP four-disulfide core domain containing

Protein Domains for ANOS1 Gene

UniProtKB/Swiss-Prot:

KALM_HUMAN
Domain:
  • Contains 4 fibronectin type-III domains.:
    • P23352
  • Contains 1 WAP domain.:
    • P23352
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.

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 --
genes like me logo Genes that share ontologies with ANOS1: view

Phenotypes for ANOS1 Gene

GenomeRNAi human phenotypes for ANOS1:
genes like me logo Genes that share phenotypes with ANOS1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 --
GO:0005578 proteinaceous extracellular matrix TAS 8832397
GO:0005615 extracellular space TAS 8842728
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ANOS1: view

Pathways for ANOS1 Gene

SuperPathways for ANOS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006928 movement of cell or subcellular component TAS 1922361
GO:0006935 chemotaxis TAS 8842728
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance TAS 1922361
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with ANOS1: view

No data available for Pathways by source for ANOS1 Gene

Compounds for ANOS1 Gene

(5) Novoseek inferred chemical compound relationships for ANOS1 Gene

Compound -log(P) Hits PubMed IDs
gnrh 74.9 10
heparan sulfate 30.9 2
isoleucine 21.5 1
steroid 14.6 2
heparin 0 2
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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ANOS1: view

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 36
  • 97.15 (n)
  • 96.9 (a)
KAL1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KAL1 37
  • 81 (a)
OneToOne
LOC525898 36
  • 79.24 (n)
  • 83.36 (a)
dog
(Canis familiaris)
Mammalia KAL1 36
  • 81.96 (n)
  • 84.51 (a)
KAL1 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAL1 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 82 (a)
OneToMany
-- 37
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves KAL1 36
  • 74.2 (n)
  • 77.54 (a)
KAL1 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KAL1 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kal1 36
  • 70.73 (n)
  • 72.96 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
kal1a 36
  • 60.83 (n)
  • 58.59 (a)
kal1a 37
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Kal1 37
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kal-1 36
  • 42 (n)
  • 30.19 (a)
kal-1 37
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs3697 -- 8,529,962(-) GCCGA(C/T)TGTAT utr-variant-3-prime
rs3698 -- 8,529,939(-) ctcaa(A/C)ctcaa utr-variant-3-prime
rs808108 -- 8,542,422(-) TACAG(G/T)GAATG intron-variant
rs808109 -- 8,541,608(-) acagg(A/G)ctgGC intron-variant
rs808110 -- 8,541,384(-) ctctt(A/G)ttgcc intron-variant

Relevant External Links for ANOS1 Gene

HapMap Linkage Disequilibrium report
ANOS1
Locus Specific Mutation Databases (LSDB)
KAL1

No data available for Structural Variations from Database of Genomic Variants (DGV) for ANOS1 Gene

Disorders for ANOS1 Gene

(1) OMIM Diseases for ANOS1 Gene (300836)

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 KAL1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

(14) Novoseek inferred disease relationships for ANOS1 Gene

Disease -log(P) Hits PubMed IDs
kallmann syndrome 98.8 58
hypogonadism 85.8 3
renal agenesis 73 7
klinefelters syndrome 68.2 1
single gene defects 66.2 1
genes like me logo Genes that share disorders with ANOS1: view

Publications for ANOS1 Gene

  1. A recurrent missense mutation in the KAL gene in patients with X- linked Kallmann's syndrome. (PMID: 9589672) Maya-Nunez G. … Mendez J.P. (J. Clin. Endocrinol. Metab. 1998) 3 4 23
  2. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. (PMID: 1913827) Legouis R. … Petit C. (Cell 1991) 3 4 23
  3. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. (PMID: 8504298) Hardelin J.-P. … Petit C. (Hum. Mol. Genet. 1993) 3 4 23
  4. Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system. (PMID: 8832397) Soussi-Yanicostas N. … Petit C. (J. Cell Sci. 1996) 3 4 23
  5. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. (PMID: 8842728) Rugarli E.I. … Ballabio A. (Hum. Mol. Genet. 1996) 3 4 23

Products for ANOS1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ANOS1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ANOS1
    • Block miRNA regulation of ANOS1 using miScript Target Protectors

    Sources for ANOS1 Gene

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