1. Gene
  2. HS6ST1 - heparan sulfate 6-O-sulfotransferase 1 Gene

HS6ST1 - heparan sulfate 6-O-sulfotransferase 1 Gene

中文名称:硫酸乙酰肝素 6-O-磺基转移酶 1

种属: Homo sapiens

同用名: HH15; HS6ST

基因 ID: 9394 | 基因类型: protein coding

关于 HS6ST1

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:128,265,480-128,318,868 (from NCBI)

This gene has 4 transcripts (splice variants), 229 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.2), testis (RPKM 16.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是硫酸乙酰肝素生物合成酶家族的一员。硫酸乙酰肝素生物合成酶是产生无数不同的硫酸乙酰肝素精细结构的关键成分,这些精细结构可以进行多种生物活性。该酶是 II 型整合膜蛋白,负责硫酸乙酰肝素的 6-O- 硫酸化。该酶与其他已知的磺基转移酶没有显着的序列相似性。已发现该基因位于 1 号染色体上的假基因。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the heparan sulfate biosynthetic Enzyme family. Heparan sulfate biosynthetic Enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This Enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This Enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]

HS6ST1 基因产物(1)

mRNA Protein Name
NM_004807.3 NP_004798.3 heparan-sulfate 6-O-sulfotransferase 1

HS6ST1 蛋白结构

Sulfotransfer_2

Sulfotransfer_2: Sulfotransferase family (80 - 351)

  • 0
  • 100
  • 200
  • 300
  • 411 a.a.
蛋白主名 其他名称

heparan-sulfate 6-O-sulfotransferase 1

HS6ST-1

关联疾病

疾病名称 别名
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia

HH15

Hypogonadotropic Hypogonadism 15 With Or Without Anosmia, Susceptibility To

Hypogonadism, Hypogonadotropic, Type 15 With/Without Anosmia

Normosmic Congenital Hypogonadotropic Hypogonadism

Normosmic Idiopathic Hypogonadotropic Hypogonadism

Nihh

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

Hypogonadism
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

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Jackson-Weiss Syndrome

JWS

Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities

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

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

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

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

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

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

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

Orofacial Cleft

Cleft, Orofacial

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
Mus musculus HS6ST1 MGD MGI:1354958
Rattus norvegicus HS6ST1 RGD RGD:1309218
Macaca mulatta HS6ST1 VGNC VGNC:104566
Bos taurus HS6ST1 VGNC VGNC:29962