1. Gene
  2. ANOS1 - anosmin 1 Gene

ANOS1 - anosmin 1 Gene

中文名称:异味素 1

种属: Homo sapiens

同用名: HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1

基因 ID: 3730 | 基因类型: protein coding

关于 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.

功能概要

该基因的突变会导致 X 连锁卡尔曼综合征。编码的蛋白质在序列上与已知在神经细胞粘附和轴突迁移中起作用的蛋白质相似。此外,这种细胞表面蛋白是 N-糖基化的,可能具有抗蛋白酶活性。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

ANOS1 蛋白结构

WAP

WAP: WAP-type (Whey Acidic Protein) 'four-disulfide core' (130 - 175)

fn3

fn3: Fibronectin type III domain (188 - 272)

fn3

fn3: Fibronectin type III domain (300 - 378)

fn3

fn3: Fibronectin type III domain (550 - 645)

  • 0
  • 200
  • 400
  • 600
  • 680 a.a.
蛋白主名 其他名称

anosmin-1

Kallmann syndrome interval gene 1

ANOS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ANOS1 P23352 FGFR1 Homo sapiens P11362 19696444
种属内
ANOS1 P23352 FGFR1 Homo sapiens P11362
SPR
19696444
种属内
ANOS1 P23352 FGFR1 Homo sapiens P11362 19696444
种属内
ANOS1 P23352 UBQLN1 Homo sapiens Q9UMX0 32296183
种属内
ANOS1 P23352 NCALD Homo sapiens P61601 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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