1. Gene
  2. SLITRK1 - SLIT and NTRK like family member 1 Gene

SLITRK1 - SLIT and NTRK like family member 1 Gene

中文名称:SLIT 和 NTRK 样家族成员 1

种属: Homo sapiens

同用名: TTM; LRRC12

基因 ID: 114798 | 基因类型: protein coding

关于 SLITRK1

Cytogenetic location: 13q31.1 Genomic coordinates (GRCh38): 13:83,877,205-83,882,474 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues, 25 paralogues and is associated with 3 phenotypes. Restricted expression toward brain (RPKM 10.6).

功能概要

该基因编码 SLITRK 蛋白家族的一个成员。该家族的成员是完整的膜蛋白,其特征在于两个 N 末端富含亮氨酸重复序列 (LRR) 结构域和一个与 Trk 神经营养蛋白受体具有同源性的 C 末端区域。然而,该基因编码的蛋白质缺乏与神经营养蛋白受体同源的区域。这种蛋白质被认为与神经突生长有关。该基因的突变可能与图雷特综合征有关。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with Trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SLITRK1 基因产物(2)

mRNA Protein Name
NM_001281503.2 NP_001268432.1 SLIT and NTRK-like protein 1 precursor
NM_052910.2 NP_443142.1 SLIT and NTRK-like protein 1 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
19640509 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of axonogenesis IMP
IMP: 通过突变表型推断
23990902 GOA
involved in regulation of presynapse assembly IDA
IDA: 通过直接分析推断
23345436 GOA
involved in regulation of presynapse assembly IMP
IMP: 通过突变表型推断
23345436 GOA
involved in synapse assembly IMP
IMP: 通过突变表型推断
27273464 GOA
involved in synaptic membrane adhesion IDA
IDA: 通过直接分析推断
23345436 GOA
involved in synaptic membrane adhesion IMP
IMP: 通过突变表型推断
23345436 GOA
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
23345436 GOA
is active in GABA-ergic synapse IMP
IMP: 通过突变表型推断
23345436 GOA
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
23345436 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
23345436 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

SLITRK1 蛋白结构

LRR_8

LRR_8: Leucine rich repeat (132 - 189)

LRR_1

LRR_1: Leucine Rich Repeat (400 - 422)

LRR_8

LRR_8: Leucine rich repeat (425 - 483)

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

SLIT and NTRK-like protein 1

leucine-rich repeat-containing protein 12

SLITRK1 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
SLITRK1 Q96PX8 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
SLITRK1 Q96PX8 UBQLN2 Homo sapiens Q9UHD9 32296183
种属内
SLITRK1 Q96PX8 UBQLN2 Homo sapiens Q9UHD9 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SLITRK1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76077 SLITRK1 Protein, Human (HEK293, His-Fc) Q96PX8 (N18-S616) ≥95%
HY-P76078 SLITRK1 Protein, Human (HEK293, His) Q96PX8 (N18-S616) ≥95%

关联疾病

疾病名称 别名
Trichotillomania

TTM

Hair-Pulling Syndrome

Compulsive Hair Plucking

Hair Pulling Disorder

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder

Tic Disorders

Tic Disorder

Tic Disorder Nos

Tic Nos

Tic Spasm Nos

Transient Tic Disorder
Tic Disorder

Tics

Behavioral Tic

Color Agnosia
Deafness, Autosomal Dominant 33

DFNA33

Autosomal Dominant Nonsyndromic Deafness 33

Autosomal Dominant Deafness 33

Trichothiodystrophy 5, Nonphotosensitive

TTD5

Nonphotosensitive Trichothiodystrophy 5

Trichothiodystrophy 5, Non-Photosensitive

Impulse Control Disorder

Disruptive, Impulse Control, And Conduct Disorders

Abcd Syndrome

ABCDS

Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness

Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut And Deafness

Echolalia
Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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
Felis catus SLITRK1 VGNC VGNC:65454
Rattus norvegicus SLITRK1 RGD RGD:1308858
Mus musculus SLITRK1 MGD MGI:2679446
Bos taurus SLITRK1 VGNC VGNC:34962
Canis familiaris SLITRK1 VGNC VGNC:46506
Macaca mulatta SLITRK1 VGNC VGNC:77744
Others SLITRK1 NCBI