U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TRAPPC11 trafficking protein particle complex subunit 11 [ Homo sapiens (human) ]

Gene ID: 60684, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TRAPPC11provided by HGNC
Official Full Name
trafficking protein particle complex subunit 11provided by HGNC
Primary source
HGNC:HGNC:25751
See related
Ensembl:ENSG00000168538 MIM:614138; AllianceGenome:HGNC:25751
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRY; FOIGR; LGMD2S; C4orf41; LGMDR18
Summary
The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in adrenal (RPKM 9.6), thyroid (RPKM 9.5) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TRAPPC11 in Genome Data Viewer
Location:
4q35.1
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (183659293..183713589)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (187002489..187056786)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (184580446..184634742)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22185 Neighboring gene RWD domain containing 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184579545-184580333 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184580334-184581121 Neighboring gene RNA, U6 small nuclear 479, pseudogene Neighboring gene RNA, U6 small nuclear 335, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:184614366-184615565 Neighboring gene RNA, U6 small nuclear 1053, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:184644336-184645097 Neighboring gene uncharacterized LOC105377581 Neighboring gene uncharacterized LOC124900824

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes. Stanga D, et al. Traffic, 2019 May. PMID 30843302
  2. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. Koehler K, et al. J Med Genet, 2017 Mar. PMID 27707803
  3. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Bögershausen N, et al. Am J Hum Genet, 2013 Jul 11. PMID 23830518, Free PMC Article
  4. A trapper keeper for TRAPP, its structures and functions. Yu S, et al. Cell Mol Life Sci, 2012 Dec. PMID 22669257
  5. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Larson AA, et al. Skelet Muscle, 2018 May 31. PMID 29855340, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
    Title: Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
  2. TRAPPC11 recruits ATG2B-WIPI4/WDR45 to preautophagosomal membranes. Fibroblasts from a patient with TRAPPC11 mutations failed to recruit ATG2B-WIPI4.
    Title: TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes.
  3. Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.
    Title: TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
  4. The identified novel TRAPPC11 mutation represents an expansion of the myopathy phenotype described before and is characterised particularly by achalasia, alacrima, neurological and muscular phenotypes.
    Title: A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
  5. TRAPPC11 role in protein glycosylation and lipid-linked oligosaccharides biosynthesis
    Title: trappc11 is required for protein glycosylation in zebrafish and humans.
  6. Homozygous mutations in the membrane trafficking component TRAPPC11 causes a form of autosomal-recessive, slowly progressive limb girdle muscular dystrophy with childhood onset and high serum creatine kinase.
    Title: Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Autosomal recessive limb-girdle muscular dystrophy type R18
MedGen: C4517996 OMIM: 615356 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ12716

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 COPII vesicle coating NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in Golgi organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in constitutive secretory pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of protein complex stability IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle tethering NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of TRAPP complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of TRAPPIII protein complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

Go to the top of the page Help
Preferred Names
trafficking protein particle complex subunit 11
Names
foie gras homolog
gryzun homolog
trafficking protein particle complex 11

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

  1. NG_033102.1 RefSeqGene

    Range
    5027..59323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021942.6 → NP_068761.4  trafficking protein particle complex subunit 11 isoform a

    See identical proteins and their annotated locations for NP_068761.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AI034264, BX647127, BX648499
    Consensus CDS
    CCDS34112.1
    UniProtKB/Swiss-Prot
    A4QPB8, B2RCD6, Q5U5I7, Q6FI73, Q7Z392, Q86T25, Q9H0L1, Q9H5K9, Q9H8Q1, Q9H9I7
    UniProtKB/TrEMBL
    B3KU05
    Related
    ENSP00000335371.6, ENST00000334690.11
    Conserved Domains (2) summary
    pfam12742
    Location:1036 → 1095
    Gryzun-like; Gryzun, putative Golgi trafficking
    pfam11817
    Location:263 → 522
    Foie-gras_1; Foie gras liver health family 1

  2. NM_199053.3 → NP_951008.1  trafficking protein particle complex subunit 11 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains alternate exon structure in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC051724, BX648499
    Consensus CDS
    CCDS47166.1
    UniProtKB/TrEMBL
    B3KU05
    Related
    ENSP00000349738.4, ENST00000357207.8
    Conserved Domains (2) summary
    pfam11817
    Location:263 → 522
    Foie-gras_1; Foie gras liver health family 1
    pfam12742
    Location:1036 → 1066
    Gryzun-like; Gryzun, putative Golgi trafficking

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    183659293..183713589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454180.2 → XP_024309948.1  trafficking protein particle complex subunit 11 isoform X1

    UniProtKB/Swiss-Prot
    A4QPB8, B2RCD6, Q5U5I7, Q6FI73, Q7Z392, Q86T25, Q9H0L1, Q9H5K9, Q9H8Q1, Q9H9I7
    UniProtKB/TrEMBL
    B3KU05
    Conserved Domains (2) summary
    pfam12742
    Location:1036 → 1095
    Gryzun-like; Gryzun, putative Golgi trafficking
    pfam11817
    Location:263 → 522
    Foie-gras_1; Foie gras liver health family 1

  2. XM_047416069.1 → XP_047272025.1  trafficking protein particle complex subunit 11 isoform X2

  3. XM_024454179.2 → XP_024309947.1  trafficking protein particle complex subunit 11 isoform X1

    UniProtKB/Swiss-Prot
    A4QPB8, B2RCD6, Q5U5I7, Q6FI73, Q7Z392, Q86T25, Q9H0L1, Q9H5K9, Q9H8Q1, Q9H9I7
    UniProtKB/TrEMBL
    B3KU05
    Conserved Domains (2) summary
    pfam12742
    Location:1036 → 1095
    Gryzun-like; Gryzun, putative Golgi trafficking
    pfam11817
    Location:263 → 522
    Foie-gras_1; Foie gras liver health family 1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    187002489..187056786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350702.1 → XP_054206677.1  trafficking protein particle complex subunit 11 isoform X1

    UniProtKB/Swiss-Prot
    A4QPB8, B2RCD6, Q5U5I7, Q6FI73, Q7Z392, Q86T25, Q9H0L1, Q9H5K9, Q9H8Q1, Q9H9I7

  2. XM_054350703.1 → XP_054206678.1  trafficking protein particle complex subunit 11 isoform X2

  3. XM_054350701.1 → XP_054206676.1  trafficking protein particle complex subunit 11 isoform X1

    UniProtKB/Swiss-Prot
    A4QPB8, B2RCD6, Q5U5I7, Q6FI73, Q7Z392, Q86T25, Q9H0L1, Q9H5K9, Q9H8Q1, Q9H9I7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z392.2 GenPept UniProtKB/Swiss-Prot:Q7Z392

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous