ANOS1 - anosmin 1 Gene

Also Known as HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3730

About ANOS1

Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:8,528,874-8,732,137 (from NCBI)

This gene has 3 transcripts (splice variants), 247 orthologues and is associated with 2 phenotypes. Biased expression in lung (RPKM 32.9), brain (RPKM 13.1) and 6 other tissues.

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]

ANOS1 Products (1)

mRNA	Protein	Name
NM_000216.4	NP_000207.2	anosmin-1 precursor

ANOS1 Protein Structure

WAP

fn3

0
200
400
600
680 a.a.

Protein Preferred Names	Protein Names
anosmin-1	Kallmann syndrome interval gene 1

ANOS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ANOS1	P23352	FGFR1	Homo sapiens	P11362	Crosslink	19696444
Intra	ANOS1	P23352	FGFR1	Homo sapiens	P11362	SPR	19696444
Intra	ANOS1	P23352	FGFR1	Homo sapiens	P11362	Confocal	19696444
Intra	ANOS1	P23352	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	ANOS1	P23352	NCALD	Homo sapiens	P61601	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Kallmann Syndrome 1 Dysplasia Olfactogenitalis Of De Morsier Kal1 HH1 Kms Hypogonadotropic Hypogonadism And Anosmia Hha Anosmic Hypogonadism Kallmann Syndrome, X-Linked Kallmann Syndrome, Type 1, X-Linked Kallmann Syndrome, Type 1, X Linked Hypogonadism, Hypogonadotropic, Type 1, With/Without Anosmia ) Kallmann Syndrome
Penis Agenesis	Micropenis Agenesis Of The Penis Penis Agenesia
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Hypogonadism
Renal Hypodysplasia/Aplasia 1	Renal Agenesis Renal Adysplasia Renal Aplasia RHDA1 Hereditary Renal Aplasia Hra Hereditary Urogenital Adysplasia Hypodysplasia/Aplasia, Renal, Type 1 Congenital Absence Of Kidneys Syndrome Congenital Absence Of Kidney Aplastic Kidney
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Idiopathic Hypogonadotropic Hypogonadism HH7 Hypogonadism, Isolated Hypogonadotropic Ihh Hypogonadism, Isolated, Hypogonadotropic Hypogonadotropic Hypogonadism Isolated Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism 7 Without Anosmia Congenital Hypogonadotropic Hypogonadism Normosmic Hh Klinefelter Syndrome Isolated Gonadotropin Deficiency
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Kallmann Syndrome 2 Kal2 HH2 Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Fertile Eunuch Syndrome Pasqualini Syndrome HH23 46,Xy Disorder Of Sex Development Due To Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Subunit Beta Deficiency 46,Xy Dsd Due To Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Subunit Beta Deficiency Leydig Cell Hypoplasia Due To Lhb Deficiency Leydig Cell Hypoplasia Due To Luteinizing Hormone Subunit Beta Deficiency Eunuchoidism With Spermatogenesis, Normal Fsh And Low Or Normal Interstitial Cell-Stimulating Hormone Hypogonadism, Hypogonadotropic, Type 23, With/Without Anosmia
Choanal Atresia, Posterior	Choanal Atresia Atresia Of Nares Posterior Choanal Atresia PCA Imperforate Nares Choanal Fusion Congenital Stenosis Of Nares Congenital Stenosis Of Choanae Nasal Atresia Nos
Miliaria Pustulosa
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Complex Cortical Dysplasia With Other Brain Malformations 1 CDCBM1 Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Ichthyosis, X-Linked	X-Linked Ichthyosis Steroid Sulfatase Deficiency Placental Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Disease XLI Sts Deficiency Ssdd X-Linked Recessive Ichthyosis X-Linked Ichthyosis With Steryl-Sulphatase Deficiency X-Linked Placental Steryl-Sulphatase Deficiency Ssd X Linked Ichthyosis Recessive X-Linked Ichthyosis Rxli Syndromic Recessive X-Linked Ichthyosis Recessive X-Linked Ichthyosis With Extracutaneous Manifestations Syndromic Rxli X-Linked Ichthyosis Syndrome IXL Ichthyosis X-Linked Sex-Linked Ichthyosis X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Vas Deferens, Congenital Bilateral Aplasia Of	Congenital Bilateral Absence Of Vas Deferens CBAVD Cavd Congenital Bilateral Aplasia Of Vas Deferens Congenital Bilateral Absence Of The Vas Deferens Congenital Bilateral Agenesis Of Vas Deferens Absence Of Vas Deferens Absent Vasa Congenital Absence Of Vas Deferens Congenital Aplasia Of Vas Deferens Absent Vas Deferens Vas Deferens, Congenital Bilateral Absence
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Orofacial Cleft	Cleft, Orofacial
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-119981	Ani9	Inhibitor	99.12%	Unkown
HY-100612	T16Ainh-A01	Inhibitor	99.04%	Unkown
HY-146320	ANO1-IN-1	Inhibitor	99.57%	Unkown
HY-105917	Emidurdar	Inhibitor	99.41%	Yes
HY-146334	DFBTA	Inhibitor	99.25%	Unkown
HY-153508	ANO1-IN-4	Inhibitor	99.58%	Unkown
HY-118170	T16A(inh)-C01	Inhibitor	90%	Unkown
HY-N5101	Kobusin		99.93%	Unkown
HY-146321	ANO1-IN-2	Inhibitor	/	Unkown
HY-147874	ANO1-IN-3		/	Unkown
HY-175669	ANO1-IN-5	Inhibitor	/	Unkown
HY-RS00740	ANO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00750	ANOS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17326	Ano1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23781	Ano1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-P990337	Anti-ANO1/TMEM16A Antibody	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ANOS1	VGNC	VGNC:25957
Rattus norvegicus	ANOS1	RGD	RGD:2318138
Canis familiaris	ANOS1	VGNC	VGNC:37932
Felis catus	ANOS1	VGNC	VGNC:67885
Macaca mulatta	ANOS1	VGNC	VGNC:69990
Others	ANOS1	NCBI