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TRAPPC6B trafficking protein particle complex subunit 6B [ Homo sapiens (human) ]

Gene ID: 122553, updated on 5-Mar-2024

Summary

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Official Symbol
TRAPPC6Bprovided by HGNC
Official Full Name
trafficking protein particle complex subunit 6Bprovided by HGNC
Primary source
HGNC:HGNC:23066
See related
Ensembl:ENSG00000182400 MIM:610397; AllianceGenome:HGNC:23066
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TPC6; NEDMEBA
Summary
TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in brain (RPKM 16.1), thyroid (RPKM 9.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (39147814..39170333, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (33336495..33359014, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39617018..39639537, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:39579989-39580506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8285 Neighboring gene peptidylprolyl isomerase A pseudogene 4 Neighboring gene gem nuclear organelle associated protein 2 Neighboring gene ribosomal protein L7a pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39638995-39639584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:39640175-39640764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8287 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:39644148-39645347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:39646527-39647027 Neighboring gene PNN antisense RNA 1 Neighboring gene pinin, desmosome associated protein Neighboring gene transmembrane protein 92 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:39672946-39674145

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A TRAPPC6B splicing variant associates to restless legs syndrome. Aridon P, et al. Parkinsonism Relat Disord, 2016 Oct. PMID 27569842
  2. The structure of the TRAPP subunit TPC6 suggests a model for a TRAPP subcomplex. Kümmel D, et al. EMBO Rep, 2005 Aug. PMID 16025134, Free PMC Article
  3. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Marin-Valencia I, et al. J Med Genet, 2018 Jan. PMID 28626029, Free PMC Article
  4. Unique self-palmitoylation activity of the transport protein particle component Bet3: a mechanism required for protein stability. Kümmel D, et al. Proc Natl Acad Sci U S A, 2006 Aug 22. PMID 16908848, Free PMC Article
  5. Distinct isocomplexes of the TRAPP trafficking factor coexist inside human cells. Kümmel D, et al. FEBS Lett, 2008 Nov 12. PMID 18930054

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
    Title: TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
  2. This study provides clinical and functional evidence of the role of TRAPPC6B in brain development and function.
    Title: A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
  3. This study identified a TRAPPC6B gene mutation associated to the RLS locus on chromosome 14.
    Title: A TRAPPC6B splicing variant associates to restless legs syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
MedGen: C4693390 OMIM: 617862 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ17772, FLJ79549

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle coating NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in vesicle tethering NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of TRAPP complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of TRAPPII protein complex NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in cis-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
trafficking protein particle complex subunit 6B
Names
TRAPP complex subunit 6B
trafficking protein particle complex 6B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001079537.2 → NP_001073005.1  trafficking protein particle complex subunit 6B isoform 1

    See identical proteins and their annotated locations for NP_001073005.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK025437, AL132639, BX161510
    Consensus CDS
    CCDS41947.1
    UniProtKB/Swiss-Prot
    B3KPS2, Q5JPD6, Q86SZ2, Q86U35, Q86X35
    Related
    ENSP00000330289.5, ENST00000330149.10
    Conserved Domains (1) summary
    cd14944
    Location:3 → 156
    TRAPPC6A_Trs33; Trs33 subunit of the TRAPP complex

  2. NM_177452.4 → NP_803235.1  trafficking protein particle complex subunit 6B isoform 2

    See identical proteins and their annotated locations for NP_803235.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL132639, BC047328
    Consensus CDS
    CCDS9670.1
    UniProtKB/Swiss-Prot
    Q86SZ2
    Related
    ENSP00000335171.6, ENST00000347691.9
    Conserved Domains (1) summary
    cd14944
    Location:3 → 128
    TRAPPC6A_Trs33; Trs33 subunit of the TRAPP complex

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    39147814..39170333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    33336495..33359014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86SZ2.1 GenPept UniProtKB/Swiss-Prot:Q86SZ2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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