TRAPPC12 - trafficking protein particle complex subunit 12 Gene

Homo sapiens

Also known as PEBAS; TTC15; CGI-87; TTC-15

Gene ID: 51112 | Gene type: protein coding

About 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.

Summary

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 Products(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

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 Golgi organization	IMP IMP: Inferred from mutant phenotype	21525244	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	21525244	GOA
involved in metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	25918224	GOA
involved in positive regulation of protein localization to kinetochore	IMP IMP: Inferred from mutant phenotype	25918224	GOA
involved in regulation of kinetochore assembly	IMP IMP: Inferred from mutant phenotype	25918224	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of TRAPP complex	IDA IDA: Inferred from direct assay	21525244	GOA
colocalizes with endoplasmic reticulum-Golgi intermediate compartment	IMP IMP: Inferred from mutant phenotype	21525244	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	25918224	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25918224	GOA
colocalizes with perinuclear region of cytoplasm	IMP IMP: Inferred from mutant phenotype	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

TRAPPC12 Protein Structure

TPR_1

TPR_11

0
200
400
600
735 a.a.

Protein Preferred Names

Protein Names

trafficking protein particle complex subunit 12

TPR repeat protein 15

TRAPPC12 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TRAPPC12	Q8WVT3	RSKR	Homo sapiens	Q96LW2	Validated Y2H	32296183
Intra	TRAPPC12	Q8WVT3	LIN7B	Homo sapiens	Q9HAP6	Y2H Prey Pooling	32296183
Intra	TRAPPC12	Q8WVT3	LIN7B	Homo sapiens	Q9HAP6	Validated Y2H	32296183
Intra	TRAPPC12	Q8WVT3	LIN7B	Homo sapiens	Q9HAP6	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14987	TRAPPC12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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