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ANOS1 anosmin 1 [ Homo sapiens (human) ]

Gene ID: 3730, updated on 5-Nov-2017
Official Symbol
ANOS1provided by HGNC
Official Full Name
anosmin 1provided by HGNC
Primary source
HGNC:HGNC:6211
See related
Ensembl:ENSG00000011201 MIM:300836; Vega:OTTHUMG00000021107
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
Location:
Xp22.31
Exon count:
15
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (8528874..8732187, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (8496915..8700227, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985716 Neighboring gene uncharacterized LOC107985715 Neighboring gene dorsal inhibitory axon guidance protein pseudogene 1 Neighboring gene family with sequence similarity 9 member A

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Kallmann syndrome 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

ClinGen Genome Curation Page
  • FGFR1 ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR1 ligand binding and activation, organism-specific biosystemThe vertebrate fibroblast growth factor receptor 1 (FGFR1) is alternatively spliced generating multiple variants that are differentially expressed during embryo development and in the adult body. The...
  • FGFR1c ligand binding and activation, organism-specific biosystem (from REACTOME)
    FGFR1c ligand binding and activation, organism-specific biosystemThis pathway depicts the binding of an experimentally-verified range of ligands to FGFR1c. While binding affinities may vary considerably within this set, the ligands listed have been established to ...
  • Negative regulation of FGFR1 signaling, organism-specific biosystem (from REACTOME)
    Negative regulation of FGFR1 signaling, organism-specific biosystemOnce activated, the FGFR signaling pathway is regulated by numerous negative feedback mechanisms. These include downregulation of receptors through CBL-mediated ubiquitination and endocytosis, ERK-m...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by FGFR, organism-specific biosystem (from REACTOME)
    Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
  • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
chemotaxis TAS
Traceable Author Statement
more info
PubMed 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
movement of cell or subcellular component TAS
Traceable Author Statement
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
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

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_007088.1 RefSeqGene

    Range
    5000..208313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000216.3NP_000207.2  anosmin-1 precursor

    See identical proteins and their annotated locations for NP_000207.2

    Status: REVIEWED

    Source sequence(s)
    AA678961, AC005184, AC006062, BC137426, CD642906, CN417843, DA809233, DB214183, M97252
    Consensus CDS
    CCDS14130.1
    UniProtKB/Swiss-Prot
    P23352
    Related
    ENSP00000262648.3, OTTHUMP00000022873, ENST00000262648.7, OTTHUMT00000055692
    Conserved Domains (3) summary
    smart00217
    Location:130176
    WAP; Four-disulfide core domains
    cd00063
    Location:290381
    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:186275
    fn3; Fibronectin type III domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

    Range
    8528874..8732187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274501.4XP_005274558.1  anosmin-1 isoform X1

    Conserved Domains (3) summary
    smart00217
    Location:130176
    WAP; Four-disulfide core domains
    cd00063
    Location:290381
    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:186275
    fn3; Fibronectin type III domain

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    8527798..8731484 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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