ANOS1 anosmin 1 [Homo sapiens (human)] - Gene

Summary

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

Location:: Xp22.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (8528874..8732137, complement)
RS_2025_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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 1 with or without anosmia MedGen: C1563719 OMIM: 308700 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	Compare labs

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:293973 (e-PCR)
- UniSTS:99098

DXS7714 (e-PCR)
- UniSTS:43037

SHGC-12678 (e-PCR)
- UniSTS:58152

SHGC-172120 (e-PCR)
- UniSTS:185131

G66217 (e-PCR)
- UniSTS:230205

G66228 (e-PCR)
- UniSTS:230216

G42691 (e-PCR)
- UniSTS:140878

DXS1090 (e-PCR)
- UniSTS:147578

DXS1091 (e-PCR)
- UniSTS:147579

GDB:679268 (e-PCR)
- UniSTS:158604

GDB:679271 (e-PCR)
- UniSTS:158605

DXS7053 (e-PCR)
- UniSTS:57495

KAL1_177 (e-PCR)
- UniSTS:277401

GDB:293971 (e-PCR)
- UniSTS:99484

RH38682 (e-PCR)
- UniSTS:86012

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
enables peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in chemotaxis	TAS Traceable Author Statement more info	PubMed
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	IEA Inferred from Electronic Annotation more info
located_in extracellular region	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

EC 3.4.21.4

NP_001427704.1

EC 3.4.21.4

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

NG_007088.2 RefSeqGene

Range

5050..208313

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000216.4 → NP_000207.2 anosmin-1 isoform 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
NM_001440775.1 → NP_001427704.1 anosmin-1 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC005184, AC006062, AC096511