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TRAPPC9 - trafficking protein particle complex subunit 9 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83696

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21525244	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cerebral cortex development	IMP IMP: Inferred from mutant phenotype	20004763	GOA

Cellular Component GO Annotation	Evidence	References	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

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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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14995	TRAPPC9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	TRAPPC9	NCBI