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ANOS1 anosmin 1 [ Homo sapiens (human) ]

Gene ID: 3730, updated on 14-Nov-2024

Summary

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Official Symbol
ANOS1provided by HGNC
Official Full Name
anosmin 1provided by HGNC
Primary source
HGNC:HGNC:6211
See related
Ensembl:ENSG00000011201 MIM:300836; AllianceGenome:HGNC:6211
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1
Summary
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]
Expression
Biased expression in lung (RPKM 32.9), brain (RPKM 13.1) and 6 other tissues See more
Orthologs
all
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Genomic context

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See ANOS1 in Genome Data Viewer
Location:
Xp22.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (8528874..8732137, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (8095953..8299248, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (8496915..8700178, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:8462508-8463707 Neighboring gene variable charge X-linked 3B Neighboring gene long intergenic non-protein coding RNA 3113 Neighboring gene NANOG hESC enhancer GRCh37_chrX:8476153-8476654 Neighboring gene NANOG hESC enhancer GRCh37_chrX:8600996-8601504 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:8611361-8612172 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:8618651-8619175 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:8656224-8657196 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:8657197-8658169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:8667852-8668352 Neighboring gene NANOG hESC enhancer GRCh37_chrX:8671941-8672658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:8689521-8690068 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:8694042-8695034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:8696584-8697084 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:8725279-8726478 Neighboring gene dorsal inhibitory axon guidance protein pseudogene 1 Neighboring gene family with sequence similarity 9 member A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutation analysis of the KAL gene in female patients with gonadotropin-releasing hormone deficiency. Lee SH, et al. Yonsei Med J, 2004 Feb 29. PMID 15004876
  2. Transforming growth factor-β regulates the expression of anosmin (KAL-1) in human retinal pigment epithelial cells. Raju R, et al. Cytokine, 2013 Mar. PMID 23357298, Free PMC Article
  3. Large deletion in the KAL1 gene in two related patients with hypogonadotropic hypogonadism: diagnostic usefulness of cytogenetic and molecular methods. Krzymińska A, et al. Endokrynol Pol, 2011. PMID 21717404
  4. X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency. Hu Y, et al. Mol Cell Endocrinol, 2011 Oct 22. PMID 21497178
  5. [Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism]. Ma C, et al. Zhonghua Nan Ke Xue, 2011 Jan. PMID 21351529

See all (89) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
    Title: Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
  2. ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.", trans "ANOS1.
    Title: ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.
  3. Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
    Title: Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
  4. Serum levels of ANOS1 serve as a diagnostic biomarker of gastric cancer: a prospective multicenter observational study.
    Title: Serum levels of ANOS1 serve as a diagnostic biomarker of gastric cancer: a prospective multicenter observational study.
  5. The deleterious effect of this mutation on the transcriptional level of ANOS1 gene.
    Title: A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.
  6. Tumor protein p73 (TAp73) and kallmann syndrome 1 sequence protein (KAI1) expression levels are positively correlated in colorectal cancer.
    Title: TAp73 inhibits cell invasion and migration by directly activating KAI1 expression in colorectal carcinoma.
  7. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T, in 2 brothers who were hemizygous, and their mother, who was heterozygous for the variant.
    Title: A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.
  8. Hemizygous mutations were identified in three Kallman syndrome cases: a novel splice acceptor site mutation leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis.
    Title: Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
  9. ANOS1 expression shows continuous activation during the progression of colorectal cancer, its expression is closely related to the overall survival rate of patients.
    Title: Study on molecular mechanism of ANOS1 promoting development of colorectal cancer.
  10. The prevalence of ANOS1 gene mutations is higher in familial Chinese Kallmann Syndrome patients.
    Title: Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-05-26)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-05-26)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent TAS
Traceable Author Statement
more info
 PubMed 
enables heparin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in axon guidance TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in chemotaxis IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular matrix TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
anosmin-1
Names
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
NP_000207.2
XP_005274558.1
XP_054183011.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007088.2 RefSeqGene

    Range
    5050..208313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000216.4 → NP_000207.2  anosmin-1 precursor

    See identical proteins and their annotated locations for NP_000207.2

    Status: REVIEWED

    Source sequence(s)
    AA678961, AC006062, BC137426, CD642906, CN417843, DA809233, DB214183, M97252
    Consensus CDS
    CCDS14130.1
    UniProtKB/Swiss-Prot
    B2RPF8, P23352
    UniProtKB/TrEMBL
    A0A1B0RPQ5
    Related
    ENSP00000262648.3, ENST00000262648.8
    Conserved Domains (3) summary
    smart00217
    Location:130 → 176
    WAP; Four-disulfide core domains
    cd00063
    Location:290 → 381
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:186 → 275
    fn3; Fibronectin type III domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    8528874..8732137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274501.5 → XP_005274558.1  anosmin-1 isoform X1

    Conserved Domains (3) summary
    smart00217
    Location:130 → 176
    WAP; Four-disulfide core domains
    cd00063
    Location:290 → 381
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:186 → 275
    fn3; Fibronectin type III domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    8095953..8299248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327036.1 → XP_054183011.1  anosmin-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23352.3 GenPept UniProtKB/Swiss-Prot:P23352

Gene LinkOut

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