1. Gene
  2. LRRTM1 - leucine rich repeat transmembrane neuronal 1 Gene

LRRTM1 - leucine rich repeat transmembrane neuronal 1 Gene

中文名称:富亮氨酸重复跨膜神经元 1

种属: Homo sapiens

基因 ID: 347730 | 基因类型: protein coding

关于 LRRTM1

Cytogenetic location: 2p12 Genomic coordinates (GRCh38): 2:80,288,356-80,304,752 (from NCBI)

This gene has 7 transcripts (splice variants), 188 orthologues and 22 paralogues. Biased expression in brain (RPKM 4.5), salivary gland (RPKM 2.3) and 7 other tissues.

功能概要

预计参与突触后密度组装的调节和突触前组装的调节。预计在几个过程的上游或内部起作用,包括长期突触增强;受体内化的负调节;和突触组装的正向调节。位于内质网和生长锥中。在 GABA 能突触中活跃。是突触后特化膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in regulation of postsynaptic density assembly and regulation of presynapse assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Located in endoplasmic reticulum and growth cone. Is active in GABA-ergic synapse. Is integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]

LRRTM1 基因产物(1)

mRNA Protein Name
NM_178839.5 NP_849161.2 leucine-rich repeat transmembrane neuronal protein 1 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in GABA-ergic synapse IDA
IDA: 通过直接分析推断
27565350 GOA
is active in GABA-ergic synapse IMP
IMP: 通过突变表型推断
27565350 GOA
located in axon IDA
IDA: 通过直接分析推断
17667961 GOA
NOT located in cell surface IDA
IDA: 通过直接分析推断
17667961 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
17667961 GOA
located in growth cone IDA
IDA: 通过直接分析推断
17667961 GOA
is active in postsynaptic specialization membrane IDA
IDA: 通过直接分析推断
27565350 GOA
is active in postsynaptic specialization membrane IMP
IMP: 通过突变表型推断
27565350 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

LRRTM1 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (59 - 101)

LRR_8

LRR_8: Leucine rich repeat (114 - 173)

(186 - 200)

LRR_8

LRR_8: Leucine rich repeat (257 - 314)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 522 a.a.
蛋白主名 其他名称

leucine-rich repeat transmembrane neuronal protein 1

leucine-rich repeat transmembrane neuronal 1 protein

关联疾病

疾病名称 别名
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Reading Disorder

Specific Reading Disorder

Reading

Dyslexia

Developmental Reading Disorder

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Dyslexia
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
Macaca mulatta LRRTM1 VGNC VGNC:74315
Felis catus LRRTM1 VGNC VGNC:63314
Mus musculus LRRTM1 MGD MGI:2389173
Rattus norvegicus LRRTM1 RGD RGD:1585921
Canis familiaris LRRTM1 VGNC VGNC:42829
Bos taurus LRRTM1 VGNC VGNC:102826