2. Gene
  3. GALNT17 - polypeptide N-acetylgalactosaminyltransferase 17 Gene

GALNT17 - polypeptide N-acetylgalactosaminyltransferase 17 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：多肽 N-乙酰半乳糖氨基转移酶 17

种属: Homo sapiens

同用名: GALNT16; GALNT20; GALNTL3; WBSCR17; GALNACT17; GalNAc-T17; GalNAc-T19; GalNAc-T5L

基因 ID: 64409 | 基因类型: protein coding

关于 GALNT17

Cytogenetic location: 7q11.22 Genomic coordinates (GRCh38): 7:71,132,144-71,713,599 (from NCBI)

This gene has 5 transcripts (splice variants), 249 orthologues and 19 paralogues. Biased expression in brain (RPKM 15.1), ovary (RPKM 6.4) and 12 other tissues.

功能概要

该基因编码 N-乙酰半乳糖氨基转移酶。该基因位于 Williams-Beuren 综合征 (WBS) 中常见缺失区域的着丝粒，Williams-Beuren 综合征是一种由 7q11.23 连续基因缺失引起的多系统发育障碍。这种蛋白质可能在膜运输中发挥作用。[RefSeq 提供，2013 年 1 月]

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

GALNT17 基因产物(1)

mRNA Protein Name
NM_022479.3 NP_071924.1 polypeptide N-acetylgalactosaminyltransferase 17

GALNT17 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (155 - 312)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (466 - 591)

  • 0
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  • 500
  • 598 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 17

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like 3

关联疾病

疾病名称 别名
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws
Intellectual Developmental Disorder, X-Linked 108

MRX108

X-Linked Intellectual Developmental Disorder 108

Mental Retardation, X-Linked 108

Mental Retardation, X-Linked, Type 108
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis

Hftc

Hyperostosis-Hyperphosphatemia Syndrome

Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome

Tumoral Calcinosis, Hyperphosphatemic, Familial

Phptc

Lipocalcinogranulomatosis

Morbus Teutschlaender

Hhs

Hyperostosis With Hyperphosphatemia

Cortical Hyperostosis With Hyperphosphatemia

Primary Hyperphosphatemic Tumoral Calcinosis

Familial Tumoral Calcinosis

HFTC1

Hypercalcemic Tumoral Calcinosis

Hyperphosphatemia Hyperostosis

Hyperphosphatemia Hyperostosis Syndrome

Hyperphosphatemia Tumoral Calcinosis

Tumoral Calcinosis

Calcinosis, Tumoral, With Hyperphosphatemia

Tumoral Calcinosis, Primary Hyperphosphatemic

Teutschlaender Disease, Familial

Familial Teutschlaender Disease

Tumoral Calcinosis With Hyperphosphatemia

Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Ftc/Hhs

Familial Tumoral Calcinosis With Hyperphosphatemia

Teutschlaender Disease

Tumoral Calcinosis Primary Hyperphosphatemic

Calcinosis, Tumoral, Hyperphosphatemic, Familial
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05254 GALNT17 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus GALNT17 VGNC VGNC:50029
Rattus norvegicus GALNT17 RGD RGD:1563452
Canis familiaris GALNT17 VGNC VGNC:41092
Macaca mulatta GALNT17 VGNC VGNC:72729
Felis catus GALNT17 VGNC VGNC:62449
Mus musculus GALNT17 MGD MGI:2137594
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