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] See more...

Aliases for ANOS1 Gene

Aliases for ANOS1 Gene

  • Anosmin 1 2 3 5
  • Anosmin-1 2 3 4
  • 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
  • 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 Signaling by GPCR and Negative regulation of FGFR3 signaling. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ008731 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 507 +0.7 685 3.4 ZBTB26 POLR2A SP2 PHF8 GABPB1 ZNF335 PKNOX1 CTCF GLIS1 PBX3 ANOS1 HSALNG0136563 piR-31534-692
GH0XJ008725 Enhancer 0.8 Ensembl 5.8 +6.2 6185 1.2 ZNF639 ZIC2 TRIM28 ATF2 ZNF341 OSR2 KLF9 WT1 ZBTB17 TCF7L2 PNPLA4 ANOS1 piR-31534-692
GH0XJ008846 Enhancer 0.9 Ensembl dbSUPER 4.3 -116.9 -116915 2.2 TCF12 NCOR1 EP300 FOXA2 NR2F2 CEBPB CTCF BRCA1 FOS FOSL2 ANOS1 PNPLA4 ENSG00000231619 lnc-FAM9A-2
GH0XJ008724 Enhancer 0.6 Ensembl ENCODE 6.2 +8.0 7985 1.2 CTCF YY1 TRIM28 SRF ANOS1 piR-31534-692
GH0XJ008673 Enhancer 0.6 Ensembl ENCODE 4.8 +57.9 57883 2 CREB1 ATF2 ATF7 MNT piR-38351-508 ANOS1 FJ601678-172
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANOS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANOS1

Genomic Locations for ANOS1 Gene

Genomic Locations for ANOS1 Gene
chrX:8,528,874-8,732,186
(GRCh38/hg38)
Size:
203,313 bases
Orientation:
Minus strand
chrX:8,496,915-8,700,227
(GRCh37/hg19)
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

  • N-glycosylated.
  • May be proteolytically cleaved at the cell surface and released from the cell surface.
  • Glycosylation at Asn71, Asn209, Asn300, Asn470, Asn553, and Asn564
  • 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

Blocks:
  • 4-disulphide core signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANOS1 Gene

GenScript: Design optimal peptide antigens:
  • Kallmann syndrome protein (KALM_HUMAN)
genes like me logo Genes that share domains with ANOS1: view

No data available for Graphical View of Domain Structure and 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,IEA 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

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

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
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 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 --
GO:0031012 extracellular matrix TAS 8832397
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 TAS,IEA --
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

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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
ANOS1

Expression for ANOS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 97.15 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAL1 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
dog
(Canis familiaris)
Mammalia KAL1 31 30
  • 81.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KAL1 31
  • 81 (a)
OneToOne
LOC525898 30
  • 79.24 (n)
chicken
(Gallus gallus)
Aves KAL1 31 30
  • 74.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KAL1 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kal1 30
  • 70.73 (n)
zebrafish
(Danio rerio)
Actinopterygii kal1a 31 30
  • 60.83 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Kal1 31
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea kal-1 31 30
  • 42 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANOS1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANOS1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
623176 Pathogenic: Kallmann syndrome 1 8,732,012(-) CCG/C FRAMESHIFT_VARIANT
658717 Likely Pathogenic: Kallmann syndrome 1 8,539,663(-) C/T SPLICE_DONOR_VARIANT
667655 Benign: not provided 8,540,021(-) C/T INTRON_VARIANT
673328 Benign: not provided 8,536,611(-) T/C INTRON_VARIANT
676898 Benign: not provided 8,596,968(-) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANOS1 Gene

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)

Additional Variant Information for ANOS1 Gene

Human Gene Mutation Database (HGMD)
ANOS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANOS1

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

(19) MalaCards diseases for ANOS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
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}.

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 23 54
  2. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). (PMID: 15605412) Albuisson J … Dodé C (Human mutation 2005) 3 4 23 54
  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 23 54
  4. 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 23 54
  5. 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 23 54

Products for ANOS1 Gene

Sources for ANOS1 Gene