Reactome | UniProt:P48553 TRAPPC10

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UniProt:P48553 TRAPPC10 Show undefined attributes

chain	chain:1-1259
checksum	E8AB6847C9C6FE0C
comment	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.SUBUNIT Specific component of the multisubunit TRAPP II complex, which includes at least TRAPPC1, TRAPPC2, TRAPPC3, TRAPPC4, TRAPPC5, TRAPPC6A/B, TRAPPC9, TRAPPC10 and TRAPPC14. TRAPPC9, TRAPPC10 and TRAPPC14 are specific subunits of the TRAPP II complex (PubMed:11805826, PubMed:21525244, PubMed:31467083). Interacts with TRAPPC14 (PubMed:31467083).INTERACTION Expressed in all tissues examined.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TRAPPC10 family.
crossReference	[DatabaseIdentifier:12321144] RefSeq:NP_003265.3 [DatabaseIdentifier:12285535] Pharos - Targets:P48553 [DatabaseIdentifier:12245232] PRO:P48553 [DatabaseIdentifier:12125230] OpenTargets:ENSG00000160218 [DatabaseIdentifier:11840688] HPA:ENSG00000160218-TRAPPC10 [DatabaseIdentifier:11787617] GeneCards:TRAPPC10 [DatabaseIdentifier:11662184] ENSEMBL:ENST00000291574 [DatabaseIdentifier:11662183] ENSEMBL:ENST00000380221 [DatabaseIdentifier:11539485] ENSEMBL:ENSP00000369570 [DatabaseIdentifier:11539484] ENSEMBL:ENSP00000291574 [DatabaseIdentifier:11450421] ENSEMBL:ENSG00000160218
databaseName	UniProt
dbId	54230
description	recommendedName: Trafficking protein particle complex subunit 10 alternativeName: Epilepsy holoprosencephaly candidate 1 protein shortName: EHOC-1 alternativeName: Protein GT334 alternativeName: Trafficking protein particle complex subunit TMEM1 alternativeName: Transport protein particle subunit TMEM1 shortName: TRAPP subunit TMEM1
displayName	UniProt:P48553 TRAPPC10
geneName	TRAPPC10 EHOC1 TMEM1
identifier	P48553
isSequenceChanged	false
keyword	Alternative splicing Autism spectrum disorder Disease variant Dwarfism Epilepsy ER-Golgi transport Golgi apparatus Intellectual disability Phosphoprotein Proteomics identification Reference proteome Transport
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	TRAPPC10
otherIdentifier	11731640_at 11731641_s_at 11731642_a_at 11731643_s_at 11731644_s_at 11750776_a_at 11759619_at 11762840_at 1555446_PM_s_at 1555446_s_at 16923451 208184_PM_s_at 208184_s_at 209412_PM_at 209412_at 38303_at 3923437 3923438 3923440 3923444 3923451 3923452 3923453 3923454 3923455 3923457 3923460 3923461 3923463 3923465 3923467 3923468 3923469 3923470 3923471 3923473 3923475 3923476 3923477 3923478 3923479 3923480 3923481 3923482 3923483 3923484 3923487 3923488 3923489 3923490 3923491 3923492 3923493 3923494 3923499 3923500 3923501 43642_at 7109 8068974 A_23_P317683 A_33_P3312534 A_33_P3315733 GE53027 GE56249 GO:0005515 GO:0005737 GO:0005794 GO:0005829 GO:0006888 GO:0006891 GO:0006901 GO:0016192 GO:0030008 GO:0034498 GO:0048193 GO:0099022 GO:1990071 HMNXSV003001754 HMNXSV003010618 HMNXSV003047801 HMNXSV003055222 Hs2Affx.1.303.S1_3p_s_at ILMN_1717973 ILMN_1778464 ILMN_1779632 PH_hs_0033438 TC21000216.hg TC21000763.hg U19252_s_at U61500_at g1778032_3p_at g4507550_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5216159] TRAPPC10 [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12725192] UCSC:P48553 TRAPPC10 [ReferenceDNASequence:12110564] OMIM:602103 TRAPPC10 [ReferenceDNASequence:12029798] NCBI Gene:7109 TRAPPC10 [ReferenceDNASequence:11945705] Monarch:7109 TRAPPC10 [ReferenceDNASequence:11859260] KEGG:hsa:7109 TRAPPC10 [ReferenceDNASequence:11819260] HGNC:11868 TRAPPC10 [ReferenceDNASequence:11434545] dbSNP Gene:7109 TRAPPC10 [ReferenceDNASequence:11413481] CTD Gene:7109 TRAPPC10 [ReferenceDNASequence:11397801] COSMIC - genes:TRAPPC10 TRAPPC10 [ReferenceDNASequence:11315916] BioGPS Gene:7109 TRAPPC10 [ReferenceDNASequence:ensembl:ENSG00000160218] ENSEMBL:ENSG00000160218 TRAPPC10
referenceTranscript	[ReferenceRNASequence:12503130] RefSeq:NM_003274.4 TRAPPC10
schemaClass	ReferenceGeneProduct
secondaryIdentifier	TPC10_HUMAN Q3MIR2 Q86SI7 Q9UMD4 Q9Y4L3
sequenceLength	1259
species	[Species:48887] Homo sapiens
stId	uniprot:P48553
url	http://purl.uniprot.org/uniprot/P48553

Referrals

(interactor)	[UndirectedInteraction:11307359] UniProt:Q96QF0 <-> UniProt:P48553 (IntAct) [UndirectedInteraction:11285121] UniProt:Q9P2M4 <-> UniProt:P48553 (IntAct) [UndirectedInteraction:11244271] UniProt:P61981 <-> UniProt:P48553 (IntAct) [UndirectedInteraction:11232813] UniProt:Q9BZR8 <-> UniProt:P48553 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5216159] TRAPPC10 [cytosol]