1. Gene
  2. TRAPPC9 - trafficking protein particle complex subunit 9 Gene

TRAPPC9 - trafficking protein particle complex subunit 9 Gene

中文名称:运输蛋白颗粒复合物亚基 9

种属: Homo sapiens

同用名: T1; IBP; NIBP; MRT13; TRS120; IKBKBBP

基因 ID: 83696 | 基因类型: protein coding

关于 TRAPPC9

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:139,727,725-140,458,579 (from NCBI)

This gene has 16 transcripts (splice variants), 214 orthologues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 3.1), thyroid (RPKM 2.8) and 25 other tissues.

功能概要

该基因编码的蛋白质可能在 NF-kappa-B 信号传导中发挥作用。该基因的突变与常染色体隐性认知障碍有关。已经描述了选择性剪接的转录变体。[RefSeq 提供,2010 年 2 月]

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

TRAPPC9 基因产物(6)

mRNA Protein Name
NM_001160372.4 NP_001153844.1 trafficking protein particle complex subunit 9 isoform b
NM_001321646.2 NP_001308575.1 trafficking protein particle complex subunit 9 isoform c
NM_001374682.1 NP_001361611.1 trafficking protein particle complex subunit 9 isoform d
NM_001374683.1 NP_001361612.1 trafficking protein particle complex subunit 9 isoform e
NM_001374684.1 NP_001361613.1 trafficking protein particle complex subunit 9 isoform f
NM_031466.8 NP_113654.5 trafficking protein particle complex subunit 9 isoform b
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 cerebral cortex development IMP
IMP: 通过突变表型推断
20004763 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
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

TRAPPC9 蛋白结构

TRAPPC9-Trs120

TRAPPC9-Trs120: Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit (1 - 1108)

  • 0
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  • 1000
  • 1148 a.a.
蛋白主名 其他名称

trafficking protein particle complex subunit 9

IKK2 binding protein

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 13

MRT13

Autosomal Recessive Intellectual Developmental Disorder 13

Mental Retardation, Autosomal Recessive 13

Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome

Autosomal Recessive Intellectual Disability Due To Trappc9 Deficiency

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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

Generalized Epilepsy With Febrile Seizures Plus, Type 9

GEFSP9

Gefs+9

Generalized Epilepsy With Febrile Seizures Plus 9

Gefs+, Type 9

Generalised Epilepsy With Febrile Seizures Plus 9

Generalised Epilepsy With Febrile Seizures Plus Type 9

Generalized Epilepsy With Febrile Seizures Plus Type 9

Gefs+ Type 9

Epilepsy, Generalized, With Febrile Seizures Plus, Type 9

Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Myopathy, Congenital, Compton-North

Compton-North Congenital Myopathy

MYPCN

Congenital Lethal Myopathy, Compton-North Type

Birk-Barel Syndrome

Birk-Barel Mental Retardation Dysmorphism Syndrome

BIBARS

Mental Retardation With Hypotonia And Facial Dysmorphism

Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome

Kcnk9 Imprinting Syndrome

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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
Bos taurus TRAPPC9 VGNC VGNC:36294
Felis catus TRAPPC9 VGNC VGNC:66517
Rattus norvegicus TRAPPC9 RGD RGD:1309461
Canis familiaris TRAPPC9 VGNC VGNC:47788
Macaca mulatta TRAPPC9 VGNC VGNC:99477
Mus musculus TRAPPC9 MGD MGI:1923760