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

TRAPPC9 - trafficking protein particle complex subunit 9 Gene

Homo sapiens

Also known as T1; IBP; NIBP; MRT13; TRS120; IKBKBBP

Gene ID: 83696 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
21525244 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cerebral cortex development IMP
IMP: Inferred from mutant phenotype
20004763 GOA
Cellular Component GO Annotation Evidence Reference Source
part of TRAPP complex IDA
IDA: Inferred from direct assay
21525244 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRAPPC9 Protein Structure

TRAPPC9-Trs120

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

  • 0
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  • 1000
  • 1148 a.a.
Protein Preferred Names Protein Names

trafficking protein particle complex subunit 9

IKK2 binding protein

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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