• Gene id: 3730

Gene Summary

• Gene Symbol: ANOS1   Gene   UCSC   Ensembl
• Aliases: ADMLX, HH1, HHA, KAL, KAL1, KALIG-1, KMS, WFDC19
• Gene name: anosmin 1
• Alternate names: anosmin-1, Kallmann syndrome interval gene 1, Kallmann syndrome-1 sequence (anosmin-1), WAP four-disulfide core domain 19, adhesion molecule-like X-linked, kallmann syndrome protein,
• Gene location: Xp22.31 (8732186: 8528873)     Exons: 15     NC_000023.11
• Gene summary(Entrez): 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-
• OMIM: 300836

SNPs

rs808119

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.8536792C>A
NC_000023.11   g.8536792C>T
NC_000023.10   g.8504833C>A
NC_000023.10   g.8504833C>T
NG_007088.2   g.200395G>T
NG_007088.2   g.200395G>A
NG_007088.1   g.200395G>T
NG_007088.1   g.200395G>A
NM_000216.4   c.1600G>T
NM_000216.4   c.1600G>A
NM_000  

rs809446

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.8535600G>A
NC_000023.10   g.8503641G>A
NG_007088.2   g.201587C>T
NG_007088.1   g.201587C>T
NM_000216.4   c.1833C>T
NM_000216.3   c.1833C>T
NM_000216.2   c.1833C>T|SEQ=[G/A]|GENE=ANOS1

Protein Summary

• Protein general information: P23352  
  • Name: Anosmin 1 (Adhesion molecule like X linked) (Kallmann syndrome protein)
  • Length: 680  
  • Mass: 76,112
• Sequence:

  MVPGVPGAVLTLCLWLAASSGCLAAGPGAAAARRLDESLSAGSVQRARCASRCLSLQITRISAFFQHFQNNGSLV
  WCQNHKQCSKCLEPCKESGDLRKHQCQSFCEPLFPKKSYECLTSCEFLKYILLVKQGDCPAPEKASGFAAACVES
  CEVDNECSGVKKCCSNGCGHTCQVPKTLYKGVPLKPRKELRFTELQSGQLEVKWSSKFNISIEPVIYVVQRRWNY
  GIHPSEDDATHWQTVAQTTDERVQLTDIRPSRWYQFRVAAVNVHGTRGFTAPSKHFRSSKDPSAPPAPANLRLAN
  STVNSDGSVTVTIVWDLPEEPDIPVHHYKVFWSWMVSSKSLVPTKKKRRKTTDGFQNSVILEKLQPDCDYVVELQ
  AITYWGQTRLKSAKVSLHFTSTHATNNKEQLVKTRKGGIQTQLPFQRRRPTRPLEVGAPFYQDGQLQVKVYWKKT
  EDPTVNRYHVRWFPEACAHNRTTGSEASSGMTHENYIILQDLSFSCKYKVTVQPIRPKSHSKAEAVFFTTPPCSA
  LKGKSHKPVGCLGEAGHVLSKVLAKPENLSASFIVQDVNITGHFSWKMAKANLYQPMTGFQVTWAEVTTESRQNS
  LPNSIISQSQILPSDHYVLTVPNLRPSTLYRLEVQVLTPGGEGPATIKTFRTPELPPSSAHRSHLKHRHPHHYKP
  SPERY

• Structural information:
  • Protein Domains: WAP. (127-176)
    Fibronectin (186-287)
    Fibronectin (292-400)
    Fibronectin (425-523)
  • Interpro: IPR036645  IPR003961  IPR036116  IPR013783  IPR008197  
  • Prosite: PS50853 PS51390
  • CDD: cd00063
  • PDB: 1ZLG
  • PDBsum: 1ZLG
  • STRING: ENSP00000262648
• Other Databases: GeneCards:  ANOS1  Malacards:  ANOS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	TAS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0006935	chemotaxis	TAS	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	TAS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0006935	chemotaxis	IEA	biological process
GO:0006935	chemotaxis	TAS	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	TAS	cellular component
GO:0005615	extracellular space	TAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0006935	chemotaxis	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS	biological process

Diseases

Associated diseases	References
Obesity	GAD: 20734064
Kallmann syndrome (KS)	INFBASE: 18463157
Hypogonadotropic hypogonadism	KEGG: H00255
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 16882753
Hypogonadotropic hypogonadism	MIK: 25619354
Cryptorchidism	MIK: 25619354
Male factor infertility	MIK: 17223984
Kallmann syndrome (KS)	MIK: 9589672
Amenorrhoea	GAD: 21247312
Hypopituitarism	KEGG: H01700
Azoospermia	MIK: 29211946
Idiopathic hypogonadotropic hypogonadism (IHH)	MIK: 17223984
Kallmann syndrome	MIK: 18463157
Cryptorchidism	MIK: 25619354
Kallmann's syndrome (KS)	MIK: 18160472
Hypogonadotropic hypogonadism	MIK: 16423815

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9589672	X-linked Kallmann's syndrome	Deletion from exon 3 to exon 5, 514 (GAA to AAA), codon 78 in exon 2, codon 534 in exon 11, codon 611 in exon 12		12 males with X-linked KS	Male infertility
25619354	Idiopathic hypogonadotropic hypogonadism (IHH)	c.1062+1G>A in KAL1, exon 1 c.27delC is identified in case 14 FGFR1		21 patients with IHH (19 were males and 2 females)	Male infertility, Female infertility	KAL1 FGFR1
21717404	Hypogonadotropic hypogonadism			5 (2 patients with Kallmann syndrome type 1 (KS1))	Male infertility
16423815	Normosmic hypogonadotropic hypogonadism	KAL1 ((del1956C) in exon 12, 191 (Arg191X))	Brazili an	17 (12 Kallmann syndrome (KS), 5 normosmic hypogonadotropic hypogonadism (nHH) )	Male infertility	KAL-1 NELF and EBF2
26031747	Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism)	KAL1 p.R191ter (pedigree 1); homozygous KAL1 p.C13ter (pedigree 2; a novel mutation); heterozygous FGFR1p.R250W (pedigree 3); and homozygous PROKR2 p.Y113H	Chinese	270 (70 sporadic Kallmann syndrome cases, 200 Chinese healthy controls)	Male infertility, Female infertility
16882753	Congenital isolated hypogonadotropic hypogonadism (IHH)	FGFR1 mutations (G48S, L245P, R250W, A343V, P366L, K618fsX654, P722S, and V795I)		80 (30 familial, 46 with had olfactory abnormalities)	Male infertility, Female infertility	KAL1 FGFR1
18463157	Idiopathic hypogonadotropic hypogonadism, Kallmann syndrome			154 (54 IHH/KS, 100 controls)	Male infertility	FGFR1 GNRH1 KAL1 GNRHR GPR54 and NELF
18160472	Kallmann's syndrome (KS)	Mutations in KAL1, FGFR1/KAL2		39 (21 had mutations in KAL1 and 18 in FGFR1/KAL2)	Male infertility	KAL1 FGFR1/KAL2
17223984	Idiopathic hypogonadotropic hypogonadism (IHH)	GnRHR gene sequence analysis showed no mutations. KAL1 sequence analysis identified two novel missense mutations: c.1061A to G in exon 7 (N304S) and c.1583C to A in exon 10 (S478X), rs808119, rs809446	Brazili an	26 Brazilian males with IHH with and without hyposmia/anosmia	Male infertility	GnRHR KAL1
29211946	Azoospermia	c.1267C>T (stop codon in exon 9 (p.R423*))	Hispani c	2 infertile brothers	Male infertility	NGS
19734936	Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism			2 cases	Male infertility