1. Gene
  2. NELL1 - neural EGFL like 1 Gene

NELL1 - neural EGFL like 1 Gene

中文名称:神经 EGFL 样 1

种属: Homo sapiens

同用名: NRP1; IDH3GL

基因 ID: 4745 | 基因类型: protein coding

关于 NELL1

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:20,669,551-21,575,686 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and 1 paralogue. Biased expression in brain (RPKM 7.1), kidney (RPKM 6.6) and 2 other tissues.

功能概要

该基因编码一种含有表皮生长因子 (EGF) 样重复序列的细胞质蛋白。编码的异源三聚体蛋白可能参与细胞生长调节和分化。啮齿类动物中的一种类似蛋白质与颅缝早闭有关。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 12 月]

This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

NELL1 基因产物(4)

mRNA Protein Name
NM_001288713.1 NP_001275642.1 protein kinase C-binding protein NELL1 isoform 3 precursor
NM_001288714.1 NP_001275643.1 protein kinase C-binding protein NELL1 isoform 4 precursor
NM_006157.5 NP_006148.2 protein kinase C-binding protein NELL1 isoform 1 precursor
NM_201551.2 NP_963845.1 protein kinase C-binding protein NELL1 isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21723284 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of osteoblast proliferation IDA
IDA: 通过直接分析推断
21723284 GOA
involved in negative regulation of protein catabolic process IDA
IDA: 通过直接分析推断
21723284 GOA
involved in positive regulation of bone mineralization IDA
IDA: 通过直接分析推断
21723284 GOA
involved in positive regulation of osteoblast differentiation IDA
IDA: 通过直接分析推断
21723284 GOA
involved in regulation of gene expression IDA
IDA: 通过直接分析推断
21723284 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
21723284 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
21723284 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21723284 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

NELL1 蛋白结构

Laminin_G_2

Laminin_G_2: Laminin G domain (99 - 196)

VWC

VWC: von Willebrand factor type C domain (273 - 331)

EGF_CA

EGF_CA: Calcium-binding EGF domain (434 - 474)

EGF_3

EGF_3: EGF domain (480 - 515)

hEGF

hEGF: Human growth factor-like EGF (534 - 546)

EGF_CA

EGF_CA: Calcium-binding EGF domain (549 - 582)

EGF_CA

EGF_CA: Calcium-binding EGF domain (596 - 627)

VWC

VWC: von Willebrand factor type C domain (699 - 749)

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

protein kinase C-binding protein NELL1

nel-related protein 1

NELL1 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
NELL1 Q92832 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
NELL1 Q92832 MEOX2 Homo sapiens Q6FHY5 32296183
种属内
NELL1 Q92832 ATRAID Homo sapiens Q6UW56
IF
21723284
种属内
NELL1 Q92832 ATRAID Homo sapiens Q6UW56 21723284
种属内
NELL1 Q92832 ATRAID Homo sapiens Q6UW56 21723284
种属内
NELL1 Q92832 ATRAID Homo sapiens Q6UW56 21723284
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
Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Achard Syndrome

Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet

Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal

Parietal Foramina

Enlarged Parietal Foramina

Hereditary Cranium Bifidum

Symmetric Parietal Foramina

Catlin Marks

Foramina Parietalia Permagna

Caitlin Marks

Cranium Bifidum

Cranium Bifidum Occultum

Fenestrae Parietals Symmetricae

Fpp

Giant Parietal Foramina

Pfm

Fenestrae Parietales Symmetricae

Foramina, Parietal

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial

Synostosis
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

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
Rattus norvegicus NELL1 RGD RGD:620998
Canis familiaris NELL1 VGNC VGNC:43739
Macaca mulatta NELL1 VGNC VGNC:75312
Mus musculus NELL1 MGD MGI:2443902
Felis catus NELL1 VGNC VGNC:81973