1. Gene
  2. TRAPPC12 - trafficking protein particle complex subunit 12 Gene

TRAPPC12 - trafficking protein particle complex subunit 12 Gene

中文名称:运输蛋白颗粒复合物亚基 12

种属: Homo sapiens

同用名: PEBAS; TTC15; CGI-87; TTC-15

基因 ID: 51112 | 基因类型: protein coding

关于 TRAPPC12

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:3,379,694-3,479,565 (from NCBI)

This gene has 23 transcripts (splice variants), 1 gene allele, 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.2), brain (RPKM 2.7) and 25 other tissues.

功能概要

参与多个过程,包括内质网到高尔基体囊泡介导的转运;蛋白质定位到着丝粒的正向调节;和着丝粒组装的调节。位于高尔基体;动粒;和核质。 TRAPP 综合体的一部分。与内质网-高尔基体中间室和细胞质的核周区域共定位。 [由基因组资源联盟提供,2022 年 4 月]

Involved in several processes, including endoplasmic reticulum to Golgi vesicle-mediated transport; positive regulation of protein localization to kinetochore; and regulation of kinetochore assembly. Located in Golgi apparatus; kinetochore; and nucleoplasm. Part of TRAPP complex. Colocalizes with endoplasmic reticulum-Golgi intermediate compartment and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

TRAPPC12 基因产物(2)

mRNA Protein Name
NM_001321102.2 NP_001308031.1 trafficking protein particle complex subunit 12
NM_016030.6 NP_057114.5 trafficking protein particle complex subunit 12
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
21525244 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IMP
IMP: 通过突变表型推断
21525244 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
21525244 GOA
involved in metaphase chromosome alignment IMP
IMP: 通过突变表型推断
25918224 GOA
involved in positive regulation of protein localization to kinetochore IMP
IMP: 通过突变表型推断
25918224 GOA
involved in regulation of kinetochore assembly IMP
IMP: 通过突变表型推断
25918224 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TRAPP complex IDA
IDA: 通过直接分析推断
21525244 GOA
colocalizes with endoplasmic reticulum-Golgi intermediate compartment IMP
IMP: 通过突变表型推断
21525244 GOA
located in kinetochore IDA
IDA: 通过直接分析推断
25918224 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25918224 GOA
colocalizes with perinuclear region of cytoplasm IMP
IMP: 通过突变表型推断
21525244 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

TRAPPC12 蛋白结构

TPR_1

TPR_1: Tetratricopeptide repeat (547 - 577)

TPR_11

TPR_11: TPR repeat (626 - 685)

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

trafficking protein particle complex subunit 12

TPR repeat protein 15

TRAPPC12 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
TRAPPC12 Q8WVT3 RSKR Homo sapiens Q96LW2
Validated Y2H
32296183
种属内
TRAPPC12 Q8WVT3 LIN7B Homo sapiens Q9HAP6
Y2H Prey Pooling
32296183
种属内
TRAPPC12 Q8WVT3 LIN7B Homo sapiens Q9HAP6
Validated Y2H
32296183
种属内
TRAPPC12 Q8WVT3 LIN7B Homo sapiens Q9HAP6
Y2H Array
32296183
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
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity

Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome

PEBAS

Coffin-Siris Syndrome 9

Mrd27

CSS9

Mental Retardation, Autosomal Dominant 27

Autosomal Dominant Mental Retardation 27

Autosomal Dominant Non-Syndromic Intellectual Disability 27

Coffin-Siris Syndrome, Type 9

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

SEDT

Sed Tarda, X-Linked

Spondyloepiphyseal Dysplasia, Late

Spondyloepiphyseal Dysplasia Tarda X-Linked

Sed

X Linked Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia

Late Onset Spondyloepiphyseal Dysplasia

Sed Tarda

X-Linked Sed

X-Linked Sedt

Dysplasia, Spondyloepiphyseal, Tarda

Spondyloepiphyseal Dysplasia

Ceroid Lipofuscinosis, Neuronal, 8

Neuronal Ceroid Lipofuscinosis 8

CLN8

Cln8 Disease

Epilepsy Mental Deterioration Finnish Type

Northern Epilepsy

Cln8 Disease, Epmr

Cln8 Disease, Northern Epilepsy Variant

Cln8 Disease, Late Infantile

Ceroid Lipofuscinosis Neuronal 8

Ncl, Northern Epilepsy Variant

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy - Intellectual Disability, Finnish Type

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Turkish Variant Late Infantile Ncl

Ceroid Lipofuscinosis, Neuronal 8

Lipofuscinosis, Ceroid, Neuronal, Type 8

Northern Epilepsy Syndrome

Binocular Vision Disease

Simultaneous Visual Perception Without Fusion

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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 TRAPPC12 VGNC VGNC:79429
Canis familiaris TRAPPC12 VGNC VGNC:47779
Felis catus TRAPPC12 VGNC VGNC:66510
Bos taurus TRAPPC12 VGNC VGNC:36286
Rattus norvegicus TRAPPC12 RGD RGD:1566054
Mus musculus TRAPPC12 MGD MGI:2445089