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TRAPPC14 trafficking protein particle complex subunit 14 [ Homo sapiens (human) ]

Gene ID: 55262, updated on 2-Nov-2024

Summary

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Official Symbol
TRAPPC14provided by HGNC
Official Full Name
trafficking protein particle complex subunit 14provided by HGNC
Primary source
HGNC:HGNC:25604
See related
Ensembl:ENSG00000146826 MIM:618350; AllianceGenome:HGNC:25604
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
MAP11; MCPH25; C7orf43
Summary
Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 16.4), spleen (RPKM 11.5) and 25 other tissues See more
Orthologs
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Genomic context

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See TRAPPC14 in Genome Data Viewer
Location:
7q22.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100154423..100158723, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101394216..101398516, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99752046..99756346, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7 pseudogene 60 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99745544-99746156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99746769-99747381 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99755453-99755629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18421 Neighboring gene microRNA 4658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99757927-99758426 Neighboring gene galactose-3-O-sulfotransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18423 Neighboring gene glypican 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18424

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 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. Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. Perez Y, et al. Brain, 2019 Mar 1. PMID 30715179, Free PMC Article
  2. The C7orf43/TRAPPC14 component links the TRAPPII complex to Rabin8 for preciliary vesicle tethering at the mother centriole during ciliogenesis. Cuenca A, et al. J Biol Chem, 2019 Oct 18. PMID 31467083, Free PMC Article
  3. BioID reveals an ATG9A interaction with ATG13-ATG101 in the degradation of p62/SQSTM1-ubiquitin clusters. Kannangara AR, et al. EMBO Rep, 2021 Oct 5. PMID 34369648, Free PMC Article
  4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. Couzens AL, et al. Sci Signal, 2013 Nov 19. PMID 24255178
  5. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. C7orf43 directly binds to Rabin8 and that C7orf43 knockdown diminishes Rabin8 preciliary centrosome accumulation.
    Title: The C7orf43/TRAPPC14 component links the TRAPPII complex to Rabin8 for preciliary vesicle tethering at the mother centriole during ciliogenesis.
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
Microcephaly 25, primary, autosomal recessive
MedGen: C5193046 OMIM: 618351 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10925, DKFZp761G0712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of TRAPPII protein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of TRAPPII protein complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in midbody IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitotic spindle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
trafficking protein particle complex subunit 14
Names
microtubule associated protein 11
trafficking protein particle complex 14
uncharacterized protein C7orf43

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_001303470.2 → NP_001290399.1  trafficking protein particle complex subunit 14 isoform 2

    See identical proteins and their annotated locations for NP_001290399.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC073842, AK054872, BC094727, HY066862
    Consensus CDS
    CCDS78261.1
    UniProtKB/TrEMBL
    B3KNS5, B4DYA8, H0Y452
    Related
    ENSP00000389672.2, ENST00000456769.5
    Conserved Domains (1) summary
    pfam15806
    Location:1 → 310
    DUF4707; Domain of unknown function (DUF4707)

  2. NM_018275.5 → NP_060745.3  trafficking protein particle complex subunit 14 isoform 1

    See identical proteins and their annotated locations for NP_060745.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC073842, BC015722, BC094727, HY066862
    Consensus CDS
    CCDS5687.1
    UniProtKB/Swiss-Prot
    A4D2A9, D6W5U4, Q8WVR3, Q9BQJ1, Q9BUB6, Q9NV47
    Related
    ENSP00000324741.3, ENST00000316937.8
    Conserved Domains (1) summary
    pfam15806
    Location:139 → 579
    DUF4707; Domain of unknown function (DUF4707)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    100154423..100158723 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101394216..101398516 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVR3.2 GenPept UniProtKB/Swiss-Prot:Q8WVR3

Gene LinkOut

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

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