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

    Gene ID: 55262, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 16.4), spleen (RPKM 11.5) and 25 other tissues See more
    Orthologs
    mouse all
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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

    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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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