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P0DI81 (TPC2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 29. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Trafficking protein particle complex subunit 2
Alternative name(s):
Sedlin
Gene names
Name:TRAPPC2
Synonyms:SEDL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length140 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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. Ref.6 Ref.8 Ref.10 Ref.11

Subcellular location

Cytoplasmperinuclear region. Endoplasmic reticulum. Golgi apparatus. Nucleus. Note: Localized in perinuclear granular structures. Ref.5 Ref.11

Tissue specificity

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

Involvement in disease

Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]: X-linked recessive disorder of endochondral bone formation.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.12 Ref.13

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.

Sequence similarities

Belongs to the TRAPP small subunits family. Sedlin subfamily.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P0DI81-1)

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.
Isoform 2 (identifier: P0DI81-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSWKQDRSGLRSTELNVLEYQPLCAVRSHILKTM
     80-80: H → HILTFLVKVTN
     81-140: Missing.
Isoform 3 (identifier: P0DI81-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 140140Trafficking protein particle complex subunit 2
PRO_0000211566

Natural variations

Alternative sequence11M → MSSWKQDRSGLRSTELNVLE YQPLCAVRSHILKTM in isoform 2 and isoform 3.
VSP_041681
Alternative sequence801H → HILTFLVKVTN in isoform 2.
VSP_006040
Alternative sequence81 – 14060Missing in isoform 2.
VSP_041682
Natural variant471D → Y in SEDT; probable loss of function. Ref.9 Ref.11 Ref.12
VAR_012358
Natural variant731S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. Ref.11 Ref.12
VAR_012359
Natural variant831F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. Ref.11 Ref.13
VAR_012361
Natural variant1301V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. Ref.11 Ref.12
VAR_012360

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Major) [UniParc].

Last modified September 21, 2011. Version 1.
Checksum: B099943C6F88952C

FASTA14016,445
        10         20         30         40         50         60 
MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD ENMWLSNNMY 

        70         80         90        100        110        120 
LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT DVYDLYIKFS MNPFYEPNSP 

       130        140 
IRSSAFDRKV QFLGKKHLLS 

« Hide

Isoform 2 [UniParc] [UniParc].

Checksum: 753235EC5EC7DB78
Show »

FASTA12414,275
Isoform 3 [UniParc].

Checksum: 6C107891FCD4AE37
Show »

FASTA17420,374

References

« Hide 'large scale' references
[1]"Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda."
Gedeon A.K., Colley A., Jamieson R., Thompson E.M., Rogers J., Sillence D., Tiller G.E., Mulley J.C., Gecz J.
Nat. Genet. 22:400-404(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, INVOLVEMENT IN SEDT.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-130 (ISOFORM 3).
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Ovary and Prostate.
[5]"Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda."
Gecz J., Hillman M.A., Gedeon A.K., Cox T.C., Baker E., Mulley J.C.
Genomics 69:242-251(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: GENOMIC ORGANIZATION, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
[6]"Functional organization of the yeast proteome by systematic analysis of protein complexes."
Gavin A.-C., Boesche M., Krause R., Grandi P., Marzioch M., Bauer A., Schultz J., Rick J.M., Michon A.-M., Cruciat C.-M., Remor M., Hoefert C., Schelder M., Brajenovic M., Ruffner H., Merino A., Klein K., Hudak M. expand/collapse author list , Dickson D., Rudi T., Gnau V., Bauch A., Bastuck S., Huhse B., Leutwein C., Heurtier M.-A., Copley R.R., Edelmann A., Querfurth E., Rybin V., Drewes G., Raida M., Bouwmeester T., Bork P., Seraphin B., Kuster B., Neubauer G., Superti-Furga G.
Nature 415:141-147(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN TRAPP COMPLEX.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking."
Scrivens P.J., Noueihed B., Shahrzad N., Hul S., Brunet S., Sacher M.
Mol. Biol. Cell 22:2083-2093(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN TRAPP COMPLEX.
[9]"Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not."
Gecz J., Shaw M.A., Bellon J.R., de Barros Lopes M.
Gene 320:137-144(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT SEDL TYR-47.
[10]"TRAPPC2L is a novel, highly conserved TRAPP-interacting protein."
Scrivens P.J., Shahrzad N., Moores A., Morin A., Brunet S., Sacher M.
Traffic 10:724-736(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN TRAPP COMPLEX, INTERACTION WITH TRAPPC2L.
[11]"SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1."
Jeyabalan J., Nesbit M.A., Galvanovskis J., Callaghan R., Rorsman P., Thakker R.V.
PLoS ONE 5:E10646-E10646(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SELF-ASSOCIATION, INTERACTION WITH ENO1; PITX1 AND SF1, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SEDL TYR-47; LEU-73; SER-83 AND ASP-130.
[12]"The molecular basis of X-linked spondyloepiphyseal dysplasia tarda."
Gedeon A.K., Tiller G.E., Le Merrer M., Heuertz S., Tranebjaerg L., Chitayat D., Robertson S., Glass I.A., Savarirayan R., Cole W.G., Rimoin D.L., Kousseff B.G., Ohashi H., Zabel B., Munnich A., Gecz J., Mulley J.C.
Am. J. Hum. Genet. 68:1386-1397(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SEDT TYR-47; LEU-73 AND ASP-130.
[13]"A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree."
Grunebaum E., Arpaia E., MacKenzie J.J., Fitzpatrick J., Ray P.N., Roifman C.M.
J. Med. Genet. 38:409-411(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SEDT SER-83.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF157065 expand/collapse EMBL AC list , 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.
CCDSCCDS48082.1.
CCDS48083.2. [P0DI81-3]
RefSeqNP_001011658.1. NM_001011658.3. [P0DI81-1]
NP_001122307.2. NM_001128835.2. [P0DI81-3]
NP_055378.1. NM_014563.5. [P0DI81-1]
UniGeneHs.592238.
Hs.622292.

3D structure databases

ProteinModelPortalP0DI81.
SMRP0DI81. Positions 1-140.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112299. 17 interactions.
IntActP0DI81. 9 interactions.
MINTMINT-155352.

Polymorphism databases

DMDM347662477.

Proteomic databases

MaxQBP0DI81.
PRIDEP0DI81.

Protocols and materials databases

DNASU6399.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358231; ENSP00000350966; ENSG00000196459. [P0DI81-1]
ENST00000359680; ENSP00000352708; ENSG00000196459. [P0DI81-1]
ENST00000380579; ENSP00000369953; ENSG00000196459. [P0DI81-1]
ENST00000458511; ENSP00000392495; ENSG00000196459. [P0DI81-3]
GeneID6399.
KEGGhsa:6399.
UCSCuc010nej.2. human. [P0DI81-3]
uc010nem.2. human. [P0DI81-2]
uc022btf.1. human.

Organism-specific databases

CTD6399.
GeneCardsGC0XM013640.
GeneReviewsTRAPPC2.
HGNCHGNC:23068. TRAPPC2.
HPACAB004665.
MIM300202. gene.
313400. phenotype.
neXtProtNX_P0DI81.
Orphanet93284. Spondyloepiphyseal dysplasia tarda.
GenAtlasSearch...

Phylogenomic databases

OMAGHNDNPI.
OrthoDBEOG7JQBQ9.
PhylomeDBP0DI81.
TreeFamTF314814.

Gene expression databases

ArrayExpressP0DI81.
BgeeP0DI81.
CleanExHS_TRAPPC2.
GenevestigatorO14582.

Family and domain databases

InterProIPR011012. Longin-like_dom.
IPR006722. Sedlin.
[Graphical view]
PANTHERPTHR12403. PTHR12403. 1 hit.
PfamPF04628. Sedlin_N. 1 hit.
[Graphical view]
SUPFAMSSF64356. SSF64356. 1 hit.
ProtoNetSearch...

Other

ChiTaRSTRAPPC2. human.
GeneWikiTRAPPC2.
GenomeRNAi6399.
NextBio24860.
PROP0DI81.
SOURCESearch...

Entry information

Entry nameTPC2A_HUMAN
AccessionPrimary (citable) accession number: P0DI81
Secondary accession number(s): A6NEG0, O14582, Q9HD16
Entry history
Integrated into UniProtKB/Swiss-Prot: September 21, 2011
Last sequence update: September 21, 2011
Last modified: July 9, 2014
This is version 29 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM