2. Gene
  3. LFNG - LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Gene

LFNG - LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Gene

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

中文名称：LFNG O-岩藻糖基肽 3-β-N-乙酰氨基葡萄糖转移酶

种属: Homo sapiens

同用名: SCDO3

基因 ID: 3955 | 基因类型: protein coding

关于 LFNG

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:2,512,529-2,529,177 (from NCBI)

This gene has 6 transcripts (splice variants), 226 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 16.6), stomach (RPKM 14.0) and 23 other tissues.

功能概要

该基因是糖基转移酶 31 基因家族的成员。该基因家族的成员还包括 MFNG (GeneID: 4242) 和 RFNG (GeneID: 5986) 基因，编码进化上保守的糖基转移酶，这些糖基转移酶在胚胎发育过程中作用于 Notch 信号通路以定义边界。虽然它们的基因组结构不同于其他糖基转移酶，但这些蛋白质具有岩藻糖特异性 β-1,3-N-乙酰葡糖胺基转移酶活性，可导致 Notch 上 O-连接的岩藻糖残基延长，从而改变 Notch 信号传导。预计由该基因编码的蛋白质是一种单程 II 型高尔基体膜蛋白，但它也可能像小鼠和果蝇中的相关蛋白质一样被分泌和蛋白水解加工 (PMID: 9187150) 。该基因的突变与常染色体隐性脊柱肋骨发育不良 3 有关。[RefSeq 提供，2018 年 5 月]

This gene is a member of the Glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from Other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]

LFNG 基因产物(4)

mRNA Protein Name
NM_001040167.2 NP_001035257.1 beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform a precursor
NM_001040168.2 NP_001035258.1 beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform b precursor
NM_001166355.2 NP_001159827.1 beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform c
NM_002304.3 NP_002295.1 beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform d
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
10935626 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of somitogenesis IMP
IMP: 通过突变表型推断
19061953 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LFNG 蛋白结构

Fringe

Fringe: Fringe-like (110 - 358)

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

beta-1,3-N-acetylglucosaminyltransferase lunatic fringe

关联疾病

疾病名称 别名
Spondylocostal Dysostosis 3, Autosomal Recessive

SCDO3

Spondylocostal Dysostosis, Autosomal Recessive 3

Spondylocostal Dysostosis 3

Autosomal Recessive Spondylocostal Dysostosis 3

Doid:0112361

Dysostosis, Spondylocostal, Autosomal Recessive, Type 3

Jarcho-Levin Syndrome
Spondylocostal Dysostosis, Autosomal Recessive

Autosomal Recessive Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylocostal Dysplasia

Spondylocostal Dysostosis, Autosomal Recessive 2
Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal
Dysostosis

Dysostoses
Spondylocostal Dysostosis 4, Autosomal Recessive

SCDO4

Spondylocostal Dysostosis 4

Autosomal Recessive Spondylocostal Dysostosis 4

Doid:0112364

Dysostosis, Spondylocostal, Autosomal Recessive, Type 4
Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1
Spondylocostal Dysostosis 5

Spondylothoracic Dysostosis

SCDO5

Jarcho-Levin Syndrome

Scoliosis, Congenital, With Or Without Rib Anomalies

Tacs

Spondylocostal Dysplasia

Costovertebral Segmentation Anomalies

Spondylocostal Dysostosis 1

Spondylocostal Dysostosis

Spondylothoracic Dysplasia

Scdo1

Spondylocostal Dysostosis 1 Autosomal Recessive

Costovertebral Dysplasia

Scdo

Std

Autosomal Dominant Spondylocostal Dysostosis

Autosomal Dominant Spondylocostal Dysplasia

Doid:0112363

Spondylocostal Dysostosis 4, Autosomal Dominant
Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
Scoliosis
Klippel-Feil Syndrome

Cervical Vertebral Fusion

Congenital Dystrophia Brevicollis

Cervical Fusion Syndrome

Klippel-Feil Deformity

Autosomal Dominant Klippel-Feil Syndrome

Congenital Synostosis Of Cervical Vertebrae

Klippel-Feil And Turner Syndrome

Klippel-Feil Deformity, Deafness And Facial Asymmetry

Klippel Feil Syndrome

Cervical Vertebral Fusion Syndrome

Dystrophia Brevicollis Congenita

Fusion Of Cervical Vertebrae

Kfs

Klippel-Feil Sequence

Vertebral Cervical Fusion Syndrome

Klippel-Feil Syndrome, Autosomal Dominant

Klippel-Feil Malformation

Isolated Klippel-Feil Syndrome
Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible

Cheney Syndrome

Arthrodentoosteodysplasia

HJCYS

Serpentine Fibula-Polycystic Kidney Syndrome

Sfpks

Acroosteolysis Dominant Type

Serpentine Fibula-Polycystic Kidneys Syndrome

Arthro-Dento-Osteo Dysplasia

Cranioskeletal Dysplasia With Acro-Osteolysis

Familial Osteodysplasia

Hereditary Osteodysplasia With Acro-Osteolysis

Hcs

Serpentine Fibula Syndrome

Acro-Osteolysis

Serpentine Fibula Polycystic Kidney Syndrome
Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome

Caudal Regression Sequence

Sacral Agenesis

Caudal Dysgenesis Syndrome

SDAM

Caudal Dysplasia Sequence

Caudal Dysplasia

Sacral Agenesis Syndrome

Sacral Regression Syndrome

Sacral Defect And Anterior Sacral Meningocele

Rudd Klimek Syndrome

Sirenomelia
Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07601 LFNG Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22217 Lfng Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS28739 Lfng Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus LFNG VGNC VGNC:68037
Canis familiaris LFNG VGNC VGNC:42645
Mus musculus LFNG MGD MGI:1095413
Rattus norvegicus LFNG RGD RGD:620587
Bos taurus LFNG VGNC VGNC:30849
Macaca mulatta LFNG VGNC VGNC:74253
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