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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
  • 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
  • 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 Kallmann Syndrome. Among its related pathways are Negative regulation of FGFR1 signaling and Signaling by FGFR2. 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 CIViC summary , 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

Enhancers for ANOS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG008757 0.8 ENCODE 6.1 -25.8 -25813 1.6 NFIB KLF17 INSM2 FEZF1 ZNF335 ZNF366 ZEB2 TSHZ1 ZNF843 PRDM6 ANOS1 PIR56290
GH0XG008846 0.8 dbSUPER 4.3 -117.5 -117502 6.1 CTCF FOXA2 TAF1 JUN ZSCAN4 MAX BRCA1 RAD21 GTF3C2 NCOR1 ANOS1 PNPLA4 LOC100128808 FAM9A
GH0XG008673 0.4 ENCODE 4.8 +57.9 57884 2.0 MNT ATF2 ANOS1 PIR50496
GH0XG008342 0.4 ENCODE 4.5 +389.8 389832 0.2 FOS EGR2 ANOS1 PIR50074 VCX2
GH0XG008732 0.6 ENCODE 0.7 0.0 -49 0.2 MAZ PKNOX1 NFYC SP2 POLR2A GABPB1 GLIS1 PBX2 ANOS1 PIR56290
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANOS1 on UCSC Golden Path with GeneCards custom track

Promoters for ANOS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000244116 485 1799 CTCF MAZ PKNOX1 NFYC SP2 POLR2A PBX2 GLIS1 ZBTB26 MAFK

Genomic Location for ANOS1 Gene

Chromosome:
X
Start:
8,528,874 bp from pter
End:
8,732,186 bp from pter
Size:
203,313 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

Post-translational modifications for ANOS1 Gene

  • May be proteolytically cleaved at the cell surface and released from the cell surface.
  • N-glycosylated.
  • Glycosylation at Asn71, posLast=209209, Asn300, posLast=470470, posLast=553553, and posLast=564564
  • 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

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.

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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:0005578 proteinaceous extracellular matrix TAS 8832397
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

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:0006928 movement of cell or subcellular component TAS 1922361
GO:0006935 chemotaxis TAS 8842728
GO:0007155 cell adhesion TAS,IEA --
GO:0007411 axon guidance TAS 1922361
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, and MOPED for ANOS1 Gene



Protein tissue co-expression partners for ANOS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANOS1 Gene:

ANOS1

mRNA Expression by UniProt/SwissProt for ANOS1 Gene:

P23352-KALM_HUMAN
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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • 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
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANOS1: view

Primer 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 34 35
  • 97.15 (n)
oppossum
(Monodelphis domestica)
Mammalia KAL1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KAL1 34 35
  • 81.96 (n)
cow
(Bos Taurus)
Mammalia KAL1 35
  • 81 (a)
OneToOne
LOC525898 34
  • 79.24 (n)
chicken
(Gallus gallus)
Aves KAL1 34 35
  • 74.2 (n)
lizard
(Anolis carolinensis)
Reptilia KAL1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kal1 34
  • 70.73 (n)
zebrafish
(Danio rerio)
Actinopterygii kal1a 34 35
  • 60.83 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Kal1 35
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kal-1 34 35
  • 42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 28 (a)
OneToOne
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

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
rs137852517 Pathogenic, Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] 8,568,252(-) CACAT(C/T)GACAC reference, missense
rs137900287 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] 8,535,674(+) AGTCA(A/C)TTGAA reference, missense
rs140812865 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] 8,570,650(+) CACTG(C/T)TGACG reference, missense
rs144586521 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] 8,536,777(+) TGCTT(C/T)GCCCA reference, missense
rs199771303 Uncertain significance, Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] 8,533,023(+) TGTAA(C/T)GATGT reference, missense

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

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

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANOS1

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: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 1 with or without anosmia
  • kallmann syndrome 1
kallmann syndrome
  • familial hypogonadism with anosmia
anos1-related isolated gonadotropin-releasing hormone deficiency
  • hypogonadotropic hypogonadism and anosmia
normosmic congenital hypogonadotropic hypogonadism
  • isolated congenital gonadotropin deficiency
hypogonadism
- 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: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}.

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. Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. (PMID: 17223984) Versiani B.R. … de Castro M. (Clin. Endocrinol. (Oxf.) 2007) 3 4 22 64
  2. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). (PMID: 15605412) Albuisson J. … Dode C. (Hum. Mutat. 2005) 3 4 22 64
  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. (Hum. Mol. Genet. 2004) 3 4 22 64
  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 P.M. (Biochem. J. 2001) 2 3 22 64
  5. 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 22 64

Products for ANOS1 Gene

Sources for ANOS1 Gene

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