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    ANOS1 anosmin 1 [ Homo sapiens (human) ]

    Gene ID: 3730, updated on 27-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
    • 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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