TRAPPC14 (trafficking protein particle complex subunit 14)

Gene

• Entrez ID: 55262
• Gene name: Trafficking protein particle complex subunit 14
• Gene symbol: TRAPPC14
• Synonyms (NCBI Gene): C7orf43, MAP11, MCPH25
• Chromosome: 7
• Chromosome location: 7q22.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	31467083, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0030030	Process	Cell projection organization	IEA
GO:0030496	Component	Midbody	IDA	30715179
GO:0030496	Component	Midbody	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0042127	Process	Regulation of cell population proliferation	IDA	30715179
GO:0043014	Function	Alpha-tubulin binding	IBA
GO:0043014	Function	Alpha-tubulin binding	IDA	30715179
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	31467083
GO:0072686	Component	Mitotic spindle	IDA	30715179
GO:1990071	Component	TRAPPII protein complex	IBA
GO:1990071	Component	TRAPPII protein complex	IMP	31467083

Other IDs

• MIM: 618350
• HGNC: 25604
• e!Ensembl: ENSG00000146826

Protein

• UniProt ID: Q8WVR3
• Protein name: Trafficking protein particle complex subunit 14 (Microtubule-associated protein 11)
• 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 (PubMed:30715179, PubMed:31467083). TRAPP II complex also has GEF a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15806	DUF4707	139 → 579	Domain of unknown function (DUF4707)	Family

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed. High levels in brain, cerebellum, testis and whole blood. {ECO:0000269|PubMed:30715179}.
• Sequence:

  MESQCDYSMYFPAVPLPPRAELAGDPGRYRALPRRNHLYLGETVRFLLVLRCRGGAGSGT
  GGGPGLGSRGAWAELATALAALASVSAGGGMPGGGGAGDQDSEPPGGGDPGGGGLFRGCS
  PLLTHGPGPATSGGATTLPVEEPIVSTDEVIFPLTVSLDRLPPGTPKAKIVVTVWKREIE
  APEVRDQGYLRLLQTRSPGETFRGEQSAFKAQVSTLLTLLPPPVLRCRQFTVAGKHLTVL
  KVLNSSSQEEISIWDIRILPNFNASYLPVMPDGSVLLVDNVCHQSGEVSMGSFCRLPGTS
  GCFPCPLNALEEHNFLFQLRGGEQPPPGAKEGLEVPLIAVVQWSTPKLPFTQSIYTHYRL
  PSVRLDRPCFVMTASCKSPVRTYERFTVTYTLLNNLQDFLAVRLVWTPEHAQAGKQLCEE
  ERRAMQAALDSVVCHTPLNNLGFSRKGSALTFSVAFQALRTGLFELSQHMKLKLQFTASV
  SHPPPEARPLSRKSSPSSPAVRDLVERHQASLGRSQSFSHQQPSRSHLMRSGSVMERRAI
  TPPVASPVGRPLYLPPDKAVLSLDKIAKRECKVLVVEPVK

• Sequence length: 580

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Microcephaly 25, primary, autosomal recessive	Pathogenic	rs149225624	RCV000758704

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
TRAPPC14-related disorder	Likely benign; Benign	rs117793118, rs572680283, rs73713948, rs143162409, rs755996232	RCV003929170 RCV003892305 RCV003931757 RCV003939394 RCV003964372