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Protein

Trafficking protein particle complex subunit 2

Gene

TRAPPC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • membrane organization Source: Reactome
  • 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 (Coat Protein 2) 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.

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:rs104894948Ensembl.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.
MINTiMINT-155352.
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:rs104894948Ensembl.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: November 22, 2017
This is version 56 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

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families