P0DI81 (TPC2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Trafficking protein particle complex subunit 2

Alternative name(s):
Sedlin

Gene names

Name:	TRAPPC2
Synonyms:	SEDL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	140 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › perinuclear 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.

Ontologies

Keywords
Biological process	ER-Golgi transport Transcription Transport
Cellular component	Cytoplasm Endoplasmic reticulum Golgi apparatus Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ER to Golgi vesicle-mediated transport Non-traceable author statement Ref.1Ref.6. Source: UniProtKB regulation of transcription, DNA-dependent Inferred from direct assay PubMed 11134351. Source: UniProtKB skeletal system development Inferred from mutant phenotype Ref.1. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell perinuclear region of cytoplasm Inferred from direct assay PubMed 12681486. Source: BHF-UCL
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 140	140	Trafficking protein particle complex subunit 2		PRO_0000211566
Natural variations
	Alternative sequence	1	1	M → MSSWKQDRSGLRSTELNVLE YQPLCAVRSHILKTM in isoform 2 and isoform 3.		VSP_041681
	Alternative sequence	80	1	H → HILTFLVKVTN in isoform 2.		VSP_006040
	Alternative sequence	81 – 140	60	Missing in isoform 2.		VSP_041682
	Natural variant	47	1	D → Y in SEDT; probable loss of function. Ref.9 Ref.11 Ref.12		VAR_012358
	Natural variant	73	1	S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. Ref.11 Ref.12		VAR_012359
	Natural variant	83	1	F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. Ref.11 Ref.13		VAR_012361
	Natural variant	130	1	V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. Ref.11 Ref.12		VAR_012360

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Major) [UniParc]. Last modified September 21, 2011. Version 1. Checksum: B099943C6F88952C	FASTA	140	16,445
	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
	Isoform 2 [UniParc] [UniParc]. Checksum: 753235EC5EC7DB78	FASTA	124	14,275
	10 20 30 40 50 60 MSSWKQDRSG LRSTELNVLE YQPLCAVRSH ILKTMSGSFY FVIVGHHDNP VFEMEFLPAG 70 80 90 100 110 120 KAESKDDHRH LNQFIAHAAL DLVDENMWLS NNMYLKTVDK FNEWFVSAFV TAGHILTFLV KVTN
	Isoform 3 [UniParc]. Checksum: 6C107891FCD4AE37	FASTA	174	20,374
	10 20 30 40 50 60 MSSWKQDRSG LRSTELNVLE YQPLCAVRSH ILKTMSGSFY FVIVGHHDNP VFEMEFLPAG 70 80 90 100 110 120 KAESKDDHRH LNQFIAHAAL DLVDENMWLS NNMYLKTVDK FNEWFVSAFV TAGHMRFIML 130 140 150 160 170 HDIRQEDGIK NFFTDVYDLY IKFSMNPFYE PNSPIRSSAF DRKVQFLGKK HLLS

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00005119. IPI00940542. IPI01025157.
RefSeq	NP_001011658.1. NM_001011658.3. NP_001122307.2. NM_001128835.2. NP_055378.1. NM_014563.5.
UniGene	Hs.592238. Hs.622292.
3D structure databases
ProteinModelPortal	P0DI81.
ModBase	Search...
Protein-protein interaction databases
IntAct	P0DI81. 9 interactions.
MINT	MINT-155352.
Proteomic databases
PRIDE	P0DI81.
Protocols and materials databases
DNASU	6399.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358231; ENSP00000350966; ENSG00000196459. ENST00000359680; ENSP00000352708; ENSG00000196459. ENST00000380579; ENSP00000369953; ENSG00000196459. ENST00000419678; ENSP00000428473; ENSG00000196459. ENST00000458511; ENSP00000392495; ENSG00000196459.
GeneID	6399.
KEGG	hsa:6399.
UCSC	uc010nem.2. human. uc022btf.1. human.
Organism-specific databases
CTD	6399.
GeneCards	GC0XM013640.
HGNC	HGNC:23068. TRAPPC2.
HPA	CAB004665.
MIM	300202. gene. 313400. phenotype.
neXtProt	NX_P0DI81.
GenAtlas	Search...
Phylogenomic databases
OMA	VGHNDNP.
Gene expression databases
ArrayExpress	P0DI81.
Bgee	P0DI81.
CleanEx	HS_TRAPPC2.
Genevestigator	O14582.
GermOnline	ENSG00000196459. Homo sapiens.
Family and domain databases
InterPro	IPR011012. Longin-like_dom. IPR006722. Sedlin. [Graphical view]
PANTHER	PTHR12403. PTHR12403. 1 hit.
Pfam	PF04628. Sedlin_N. 1 hit. [Graphical view]
SUPFAM	SSF64356. Longin_like. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	TRAPPC2. human.
GenomeRNAi	6399.
NextBio	24860.
SOURCE	Search...

Entry information

Entry name

TPC2A_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 18 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.