Reviewed, UniProtKB/Swiss-Prot O14582 (TPPC2_HUMAN)

Names and origin

Protein names

Recommended name:
    Trafficking protein particle complex subunit 2
Alternative name(s):
    Sedlin
    MBP-1-interacting protein 2A
      Short name=MIP-2A

Gene names

Name:	TRAPPC2
Synonyms:	SEDL
AND
Name:	TRAPPC2P1
Synonyms:	SEDLP

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	140 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Prevents MBP1-mediated transcriptional repression and antagonizes MBP1-mediated cell death. May play a role in vesicular transport from endoplasmic reticulum to Golgi. Ref.2
Subunit structure	Part of the multisubunit TRAPP (transport protein particle) complex. Interacts with MBP1 and TRAPPC2L. Ref.2 Ref.10
Subcellular location	Cytoplasm › perinuclear region. Endoplasmic reticulum. Golgi apparatus. Note: Localized in perinuclear granular structures. Ref.7
Tissue specificity	Widely expressed.
Involvement in disease	Defects in TRAPPC2 are the cause of spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]. SEDT is an X-linked recessive disorder of endochondral bone formation. Ref.11 Ref.12
Sequence similarities	Belongs to the TRAPP small subunits family. Sedlin subfamily.
Caution	There are 2 copies of the gene for this protein: one on chromosome X and the other on chromosome 19; the one on 19 is said to be a processed pseudogene that shares a non-coding exon with ZNF547.

Ontologies

Keywords
Biological process	ER-Golgi transport Transcription Transport
Cellular component	Cytoplasm Endoplasmic reticulum Golgi apparatus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	ER to Golgi vesicle-mediated transport Ref.1 Ref.8 Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Ref.2 Inferred from direct assay. Source: UniProtKB skeletal system development Ref.1 Traceable author statement. Source: ProtInc transcription 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 perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	transcription factor binding Ref.2 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: O14582-1)

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: O14582-2)

Also known as: Minor;

The sequence of this isoform differs from the canonical sequence as follows:
     80-80: H → HILTFLVK

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	80	1	H → HILTFLVK in isoform 2.		VSP_006040
	Natural variant	47	1	D → Y in SEDT. Ref.11		VAR_012358
	Natural variant	73	1	S → L in SEDT. Ref.11		VAR_012359
	Natural variant	83	1	F → S in SEDT; mild form. Ref.12		VAR_012361
	Natural variant	130	1	V → D in SEDT. Ref.11		VAR_012360
Experimental info
	Sequence conflict	105	1	L → P in AAG02469. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Major) [UniParc]. Last modified April 16, 2002. Version 3. 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 (Minor). Checksum: D236EC26506D3D10	FASTA	147	17,260
	10 20 30 40 50 60 MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD ENMWLSNNMY 70 80 90 100 110 120 LKTVDKFNEW FVSAFVTAGH ILTFLVKMRF IMLHDIRQED GIKNFFTDVY DLYIKFSMNP 130 140 FYEPNSPIRS SAFDRKVQFL GKKHLLS

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: 10431248] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1." Ghosh A.K., Majumder M., Steele R., White R.A., Ray R.B. Mol. Cell. Biol. 21:655-662(2001) [PubMed: 11134351] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH MBP1.
[3]	"Human cDNA complete cds homolog to yeast protein P38334." Hu G. Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain, Lung, Ovary and Prostate.
[7]	"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: 11031107] [Abstract] Cited for: GENOMIC ORGANIZATION, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
[8]	"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: 11805826] [Abstract] Cited for: IDENTIFICATION IN TRAPP COMPLEX.
[9]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[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: 19416478] [Abstract] Cited for: IDENTIFICATION IN TRAPP COMPLEX, INTERACTION WITH TRAPPC2L.
[11]	"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: 11349230] [Abstract] Cited for: VARIANTS SEDT TYR-47; LEU-73 AND ASP-130.
[12]	"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: 11424925] [Abstract] Cited for: VARIANT SEDT SER-83.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF157065 , AF157062, AF157063, AF157064 Genomic DNA. Translation: AAD49845.1. AF291676 mRNA. Translation: AAG02469.1. AF058918 mRNA. Translation: AAC14421.1. AC003037 Genomic DNA. No translation available. AC003002 Genomic DNA. Translation: AAB80684.1. BC008889 mRNA. No translation available. BC016915 mRNA. Translation: AAH16915.1. BC032809 mRNA. No translation available. BC052618 mRNA. Translation: AAH52618.1.
IPI	IPI00005119. IPI00217250.
RefSeq	NP_001011658.1. NP_055378.1.
UniGene	Hs.446620 Hs.592238 Hs.622292
3D structure databases
SMR	O14582. Positions 1-140.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-41837N.
IntAct	O14582. 1 interaction.
STRING	O14582.
Proteomic databases
PRIDE	O14582.
Genome annotation databases
Ensembl	ENST00000358231; ENSP00000350966; ENSG00000196459; Homo sapiens. [Genome view] ENST00000359680; ENSP00000352708; ENSG00000196459; Homo sapiens. [Genome view] ENST00000380579; ENSP00000369953; ENSG00000196459; Homo sapiens. [Genome view] ENST00000458511; ENSP00000392495; ENSG00000196459; Homo sapiens. [Genome view]
GeneID	6399.
KEGG	hsa:6399.
Organism-specific databases
CTD	6399.
GeneCards	GC0XM013640.
H-InvDB	HIX0015497. HIX0016661.
HGNC	HGNC:23068. TRAPPC2. HGNC:10710. TRAPPC2P1.
HPA	CAB004665.
MIM	300202. gene. 313400. phenotype.
Orphanet	253. Spondyloepiphyseal dysplasia. 93284. Spondyloepiphyseal dysplasia tarda.
PharmGKB	PA35631.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18909.
HOVERGEN	O14582.
OMA	EMEFLPP.
OrthoDB	EOG9Z91GB.
PhylomeDB	O14582.
Gene expression databases
ArrayExpress	O14582.
Bgee	O14582.
CleanEx	HS_TRAPPC2.
Genevestigator	O14582.
GermOnline	ENSG00000152433. Homo sapiens. ENSG00000196459. Homo sapiens.
Family and domain databases
InterPro	IPR011012. Longin-like. IPR006722. Sedlin. [Graphical view]
PANTHER	PTHR12403. Sedlin. 1 hit.
Pfam	PF04628. Sedlin_N. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	24860.
SOURCE	Search...

Entry information

Entry name

TPPC2_HUMAN

Accession

Primary (citable) accession number: O14582
Secondary accession number(s): A6NEG0, Q9HD16

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	April 16, 2002
Last modified:	February 9, 2010
This is version 105 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.