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Protein

Trafficking protein particle complex subunit 2

Gene

TRAPPC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.By similarity

Miscellaneous

A paralogous gene encoding an identical protein appears to have arisen by retrotransposition of a cDNA from this locus and to have acquired a promoter and non-coding 5' UTR from the ZNF547 gene.

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL
  • Rab guanyl-nucleotide exchange factor activity Source: Reactome
  • transcription factor binding Source: UniProtKB

GO - Biological processi

  • COPII vesicle coating Source: Reactome
  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • skeletal system development Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Biological processER-Golgi transport, Transcription, Transport

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Names & Taxonomyi

Protein namesi
Recommended name:
Trafficking protein particle complex subunit 2
Alternative name(s):
Sedlin
Gene namesi
Name:TRAPPC2
Synonyms:SEDL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000196459.13
HGNCiHGNC:23068 TRAPPC2
MIMi300202 gene
neXtProtiNX_P0DI81

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spondyloepiphyseal dysplasia tarda (SEDT)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionX-linked recessive disorder of endochondral bone formation.
See also OMIM:313400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01235847D → Y in SEDT; loss-of-function mutation. 3 Publications1
Natural variantiVAR_01235973S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. 2 PublicationsCorresponds to variant dbSNP:rs769218264Ensembl.1
Natural variantiVAR_01236183F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. 2 PublicationsCorresponds to variant dbSNP:rs104894948EnsemblClinVar.1
Natural variantiVAR_012360130V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10597
6399
GeneReviewsiTRAPPC2
MalaCardsiTRAPPC2
MIMi313400 phenotype
OpenTargetsiENSG00000196459
ENSG00000256060
Orphaneti93284 Spondyloepiphyseal dysplasia tarda

Polymorphism and mutation databases

BioMutaiTRAPPC2
DMDMi347662477

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002115661 – 140Trafficking protein particle complex subunit 2Add BLAST140

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei119PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP0DI81
PeptideAtlasiP0DI81
PRIDEiP0DI81
TopDownProteomicsiP0DI81-1 [P0DI81-1]

PTM databases

iPTMnetiP0DI81
PhosphoSitePlusiP0DI81

Expressioni

Tissue specificityi

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.1 Publication

Gene expression databases

BgeeiENSG00000196459
CleanExiHS_TRAPPC2
ExpressionAtlasiP0DI81 baseline and differential
GenevisibleiP0DI81 HS

Organism-specific databases

HPAiCAB004665
HPA063308

Interactioni

Subunit structurei

Can homodimerize. Component of the multisubunit TRAPP (transport protein particle) complex, which includes TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Interacts with ENO1, PITX1 and SF1.4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL
  • Rab guanyl-nucleotide exchange factor activity Source: Reactome
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi112299, 42 interactors
CORUMiP0DI81
IntActiP0DI81, 29 interactors
STRINGi9606.ENSP00000392495

Structurei

3D structure databases

ProteinModelPortaliP0DI81
SMRiP0DI81
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3487 Eukaryota
COG5603 LUCA
GeneTreeiENSGT00510000047168
InParanoidiP0DI81
KOiK20301
OMAiWATNTIF
OrthoDBiEOG091G01AJ
PhylomeDBiP0DI81
TreeFamiTF314814

Family and domain databases

InterProiView protein in InterPro
IPR011012 Longin-like_dom_sf
IPR006722 Sedlin
PANTHERiPTHR12403 PTHR12403, 1 hit
PfamiView protein in Pfam
PF04628 Sedlin_N, 1 hit
SUPFAMiSSF64356 SSF64356, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P0DI81-1) [UniParc]FASTAAdd to basket
Also known as: Major

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD
60 70 80 90 100
ENMWLSNNMY LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT
110 120 130 140
DVYDLYIKFS MNPFYEPNSP IRSSAFDRKV QFLGKKHLLS
Length:140
Mass (Da):16,445
Last modified:September 21, 2011 - v1
Checksum:iB099943C6F88952C
GO
Isoform 2 (identifier: P0DI81-2) [UniParc] [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSWKQDRSGLRSTELNVLEYQPLCAVRSHILKTM
     80-80: H → HILTFLVKVTN
     81-140: Missing.

Show »
Length:124
Mass (Da):14,275
Checksum:i753235EC5EC7DB78
GO
Isoform 3 (identifier: P0DI81-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSWKQDRSGLRSTELNVLEYQPLCAVRSHILKTM

Show »
Length:174
Mass (Da):20,374
Checksum:i6C107891FCD4AE37
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01235847D → Y in SEDT; loss-of-function mutation. 3 Publications1
Natural variantiVAR_01235973S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. 2 PublicationsCorresponds to variant dbSNP:rs769218264Ensembl.1
Natural variantiVAR_01236183F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. 2 PublicationsCorresponds to variant dbSNP:rs104894948EnsemblClinVar.1
Natural variantiVAR_012360130V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0416811M → MSSWKQDRSGLRSTELNVLE YQPLCAVRSHILKTM in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_00604080H → HILTFLVKVTN in isoform 2. 1 Publication1
Alternative sequenceiVSP_04168281 – 140Missing in isoform 2. 1 PublicationAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF157065
, AF157062, AF157063, AF157064 Genomic DNA Translation: AAD49845.1
AC003037 Genomic DNA No translation available.
AK310542 mRNA No translation available.
DA542477 mRNA No translation available.
DB101396 mRNA No translation available.
BC016915 mRNA Translation: AAH16915.1
BC052618 mRNA Translation: AAH52618.1
CCDSiCCDS48082.1
CCDS48083.2 [P0DI81-3]
RefSeqiNP_001011658.1, NM_001011658.3 [P0DI81-1]
NP_001122307.2, NM_001128835.2 [P0DI81-3]
NP_055378.1, NM_014563.5 [P0DI81-1]
XP_011543867.1, XM_011545565.1 [P0DI81-1]
XP_011543868.1, XM_011545566.2 [P0DI81-1]
UniGeneiHs.592238
Hs.622292

Genome annotation databases

EnsembliENST00000359680; ENSP00000352708; ENSG00000196459 [P0DI81-1]
ENST00000380579; ENSP00000369953; ENSG00000196459 [P0DI81-1]
ENST00000458511; ENSP00000392495; ENSG00000196459 [P0DI81-3]
GeneIDi6399
KEGGihsa:6399
UCSCiuc064yav.1 human

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTPC2A_HUMAN
AccessioniPrimary (citable) accession number: P0DI81
Secondary accession number(s): A6NEG0, O14582, Q9HD16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 21, 2011
Last sequence update: September 21, 2011
Last modified: May 23, 2018
This is version 59 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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