Gene Gene information from NCBI Gene database.
Entrez ID 7109
Gene name Trafficking protein particle complex subunit 10
Gene symbol TRAPPC10
Synonyms (NCBI Gene)
EHOC-1EHOC1GT334NEDMISSTMEM1TRS130TRS30
Chromosome 21
Chromosome location 21q22.3
Summary The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulu
miRNA miRNA information provided by mirtarbase database.
604
miRTarBase ID miRNA Experiments Reference
MIRT021083 hsa-miR-186-5p Sequencing 20371350
MIRT041335 hsa-miR-193b-3p CLASH 23622248
MIRT040804 hsa-miR-18a-3p CLASH 23622248
MIRT040102 hsa-miR-615-3p CLASH 23622248
MIRT038240 hsa-miR-330-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21273506, 21525244, 27173435, 31467083
GO:0005737 Component Cytoplasm NAS 27066478
GO:0005794 Component Golgi apparatus IEA
GO:0005829 Component Cytosol TAS
GO:0006888 Process Endoplasmic reticulum to Golgi vesicle-mediated transport NAS 27066478
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602103 11868 ENSG00000160218
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48553
Protein name Trafficking protein particle complex subunit 10 (Epilepsy holoprosencephaly candidate 1 protein) (EHOC-1) (Protein GT334) (Trafficking protein particle complex subunit TMEM1) (Transport protein particle subunit TMEM1) (TRAPP subunit TMEM1)
Protein function Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether. {ECO:0000269|PubMed:11805826, ECO:0000269|PubMed:31467083, ECO:000
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12584 TRAPPC10 1017 1246 Trafficking protein particle complex subunit 10, TRAPPC10 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined.
Sequence
MDASEEPLPPVIYTMENKPIVTCAGDQNLFTSVYPTLSQQLPREPMEWRRSYGRAPKMIH
LESNFVQFKEELLPKEGNKALLTFPFLHIYWTECCDTEVYKATVKDDLTKWQNVLKAHSS
VDWLIVIVENDAKKKNKTNILPRTSIVDKIRNDFCNKQSDRCVVLSDPLKDSSRTQESWN
AFLTKLRTLLLMSFTKNLGKFEDDMRTLREKRTEPGWSFCEYFMVQEELAFVFEMLQQFE
DALVQYDELDALFSQYVVNFGAGDGANWLTFFCQPVKSWNGLILRKPIDMEKRESIQRRE
ATLLDLRSYLFSRQCTLLLFLQRPWEVAQRALELLHNCVQELKLLEVSVPPGALDCWVFL
SCLEVLQRIEGCCDRAQIDSNIAHTVGLWSYATEKLKSLGYLCGLVSEKGPNSEDLNRTV
DLLAGLGAERPETANTAQSPYKKLKEALSSVEAFEKHYLDLSHATIEMYTSIGRIRSAKF
VGKDLAEFYMRKKAPQKAEIYLQGALKNYLAEGWALPITHTRKQLAECQKHLGQIENYLQ
TSSLLASDHHLTEEERKHFCQEILDFASQPSDSPGHKIVLPMHSFAQLRDLHFDPSNAVV
HVGGVLCVEITMYSQMPVPVHVEQIVVNVHFSIEKNSYRKTAEWLTKHKTSNGIINFPPE
TAPFPVSQNSLPALELYEMFERSPSDNSLNTTGIICRNVHMLLRRQESSSSLEMPSGVAL
EEGAHVLRCSHVTLEPGANQITFRTQAKEPGTYTLRQLCASVGSVWFVLPHIYPIVQYDV
YSQEPQLHVEPLADSLLAGIPQRVKFTVTTGHYTIKNGDSLQLSNAEAMLILCQAESRAV
VYSNTREQSSEAALRIQSSDKVTSISLPVAPAYHVIEFELEVLSLPSAPALGGESDMLGM
AEPHRKHKDKQRTGRCMVTTDHKVSIDCPWSIYSTVIALTFSVPFRTTHSLLSSGTRKYV
QVCVQNLSELDFQLSDSYLVDTGDSTDLQLVPLNTQSQQPIYSKQSVFFVWELKWTEEPP
PSLHCRFSVGFSPASEEQLSISLKPYTYEFKVENFFTLYNVKAEIFPPSGMEYCRTGSLC
SLEVLITRLSDLLEVDKDEALTESDEHFSTKLMYEVVDNSSNWAVCGKSCGVISMPVAAR
ATHRVHMEVMPLFAGYLPLPDVRLFKYLPHHSAHSSQLDADSWIENDSLSVDKHGDDQPD
SSSLKSRGSVHSACSSEHKGLPMPRLQALPAGQVFNSSSGTQVLVI
PSQDDHVLEVSVT
Sequence length 1259
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic; Pathogenic rs2038452898 RCV001291083
Neurodevelopmental disorder with microcephaly, short stature, and speech delay Likely pathogenic; Pathogenic rs2517609684, rs2517484633, rs2038452898 RCV003228886
RCV003228887
RCV002281648
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, SPEECH DELAY, AND BEHAVIORAL ABNORMALITIES Pathogenic rs2517767380 RCV002281664
TRAPPopathy microcephalic Likely pathogenic rs1179604644 RCV002254789
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lymphoma Likely benign rs201213914 RCV005936825
TRAPPC10-related disorder Likely benign rs201213914, rs115506565, rs143166326 RCV003906782
RCV003952155
RCV003959750
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 26474971
Intellectual Disability Associate 30167849
Polyendocrinopathies Autoimmune Associate 9179495