2. Gene
  3. LRIT3 - leucine rich repeat, Ig-like and transmembrane domains 3 Gene

LRIT3 - leucine rich repeat, Ig-like and transmembrane domains 3 Gene

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

中文名称：富亮氨酸重复序列、Ig 样结构域和跨膜结构域 3

种属: Homo sapiens

同用名: CSNB1F; FIGLER4

基因 ID: 345193 | 基因类型: protein coding

关于 LRIT3

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:109,848,107-109,872,315 (from NCBI)

This gene has 2 transcripts (splice variants), 247 orthologues, 22 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码的蛋白质具有 III 型纤连蛋白结构域和 C 端跨膜结构域，以及靠近 N 端的富含亮氨酸的重复结构域和免疫球蛋白样结构域。编码的蛋白质可能调节成纤维细胞生长因子受体并影响这些受体的修饰，这些受体在高尔基体和内质网中的糖基化不同。该基因的突变与 1F 型先天性静止性夜盲症有关。[RefSeq 提供，2013 年 5 月]

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate Fibroblast Growth Factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]

LRIT3 基因产物(1)

mRNA Protein Name
NM_198506.5 NP_940908.3 leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of fibroblast growth factor receptor signaling pathway IDA
IDA: 通过直接分析推断
22673519 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

LRIT3 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (61 - 117)

LRR_8

LRR_8: Leucine rich repeat (129 - 179)

I-set

I-set: Immunoglobulin I-set domain (257 - 345)

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

leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3

fibronectin type III, immunoglobulin and leucine rich repeat domains 4

关联疾病

疾病名称 别名
Night Blindness, Congenital Stationary, Type 1f

CSNB1F

Congenital Stationary Night Blindness 1f

Night Blindness, Congenital Stationary , 1f, Autosomal Recessive

Congenital Stationary Night Blindness 1f Autosomal Recessive

Night Blindness, Congenital Stationary, 1f

Complete Autosomal Recessive Csnb

Complete Congenital Stationary Night Blindness 1f Autosomal Recessive

Blindness, Night, Stationary, Congenital, Type 1f
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
Night Blindness

Nyctalopia
Night Blindness, Congenital Stationary, Type 1b

Congenital Stationary Night Blindness 1b

CSNB1B

Night Blindness, Congenital Stationary, Complete, Autosomal Recessive

Csnb, Complete, Autosomal Recessive

Night Blindness, Congenital Stationary , 1b, Autosomal Recessive

Autosomal Recessive Complete Congenital Stationary Night Blindness

Congenital Stationary Night Blindness 1b Autosomal Recessive

Night Blindness, Congenital Stationary, 1b

Complete Autosomal Recessive Csnb

Complete Congenital Stationary Night Blindness Autosomal Recessive

Blindness, Night, Stationary, Congenital, Type 1b
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted
Fundus Albipunctatus

Retinitis Punctata Albescens

Pigmentary Retinal Dystrophy

RPA

Albipunctate Retinal Dystrophy

Lauber'S Disease

FALBI

Fa
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
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 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-RS07790 LRIT3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22617 Lrit3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29132 Lrit3 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LRIT3 RGD RGD:1559637
Mus musculus LRIT3 MGD MGI:2685267
Felis catus LRIT3 VGNC VGNC:78523
Canis familiaris LRIT3 VGNC VGNC:42770
Macaca mulatta LRIT3 VGNC VGNC:74347
Bos taurus LRIT3 VGNC VGNC:53765
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