HS6ST1 - heparan sulfate 6-O-sulfotransferase 1 Gene

Homo sapiens

Also known as HH15; HS6ST

Gene ID: 9394 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

HS6ST1 Protein Structure

Sulfotransfer_2

0
100
200
300
411 a.a.

Protein Preferred Names

Protein Names

heparan-sulfate 6-O-sulfotransferase 1

HS6ST-1

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06382	HS6ST1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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