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P0DI81

- TPC2A_HUMAN

UniProt

P0DI81 - TPC2A_HUMAN

Protein

Trafficking protein particle complex subunit 2

Gene

TRAPPC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    GO - Molecular functioni

    1. ion channel binding Source: BHF-UCL
    2. protein binding Source: UniProtKB
    3. transcription factor binding Source: UniProtKB

    GO - Biological processi

    1. ER to Golgi vesicle-mediated transport Source: UniProtKB
    2. regulation of transcription, DNA-templated Source: UniProtKB
    3. skeletal system development Source: UniProtKB
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    ER-Golgi transport, Transcription, Transport

    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
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:23068. TRAPPC2.

    Subcellular locationi

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

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB-SubCell
    2. Golgi apparatus Source: UniProtKB-SubCell
    3. nucleus Source: UniProtKB-SubCell
    4. perinuclear region of cytoplasm Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]: X-linked recessive disorder of endochondral bone formation.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471D → Y in SEDT; probable loss of function. 1 Publication
    VAR_012358
    Natural varianti73 – 731S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
    VAR_012359
    Natural varianti83 – 831F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
    VAR_012361
    Natural varianti130 – 1301V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
    VAR_012360

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi313400. phenotype.
    Orphaneti93284. Spondyloepiphyseal dysplasia tarda.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 140140Trafficking protein particle complex subunit 2PRO_0000211566Add
    BLAST

    Proteomic databases

    MaxQBiP0DI81.
    PRIDEiP0DI81.

    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

    ArrayExpressiP0DI81.
    BgeeiP0DI81.
    CleanExiHS_TRAPPC2.
    GenevestigatoriO14582.

    Organism-specific databases

    HPAiCAB004665.

    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

    Protein-protein interaction databases

    BioGridi112299. 17 interactions.
    IntActiP0DI81. 9 interactions.
    MINTiMINT-155352.

    Structurei

    3D structure databases

    ProteinModelPortaliP0DI81.
    SMRiP0DI81. Positions 1-140.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    OMAiGHNDNPI.
    OrthoDBiEOG7JQBQ9.
    PhylomeDBiP0DI81.
    TreeFamiTF314814.

    Family and domain databases

    InterProiIPR011012. Longin-like_dom.
    IPR006722. Sedlin.
    [Graphical view]
    PANTHERiPTHR12403. PTHR12403. 1 hit.
    PfamiPF04628. Sedlin_N. 1 hit.
    [Graphical view]
    SUPFAMiSSF64356. SSF64356. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    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

    MSGSFYFVIV GHHDNPVFEM EFLPAGKAES KDDHRHLNQF IAHAALDLVD    50
    ENMWLSNNMY LKTVDKFNEW FVSAFVTAGH MRFIMLHDIR QEDGIKNFFT 100
    DVYDLYIKFS MNPFYEPNSP IRSSAFDRKV QFLGKKHLLS 140
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471D → Y in SEDT; probable loss of function. 1 Publication
    VAR_012358
    Natural varianti73 – 731S → L in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
    VAR_012359
    Natural varianti83 – 831F → S in SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
    VAR_012361
    Natural varianti130 – 1301V → D in SEDT; loss of interaction with ENO1, PITX1 and SF1. 1 Publication
    VAR_012360

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MSSWKQDRSGLRSTELNVLE YQPLCAVRSHILKTM in isoform 2 and isoform 3. 1 PublicationVSP_041681
    Alternative sequencei80 – 801H → HILTFLVKVTN in isoform 2. 1 PublicationVSP_006040
    Alternative sequencei81 – 14060Missing in isoform 2. 1 PublicationVSP_041682Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    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.
    UCSCiuc010nej.2. human. [P0DI81-3]
    uc010nem.2. human. [P0DI81-2]
    uc022btf.1. human.

    Polymorphism databases

    DMDMi347662477.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS48082.1.
    CCDS48083.2. [P0DI81-3 ]
    RefSeqi NP_001011658.1. NM_001011658.3. [P0DI81-1 ]
    NP_001122307.2. NM_001128835.2. [P0DI81-3 ]
    NP_055378.1. NM_014563.5. [P0DI81-1 ]
    UniGenei Hs.592238.
    Hs.622292.

    3D structure databases

    ProteinModelPortali P0DI81.
    SMRi P0DI81. Positions 1-140.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112299. 17 interactions.
    IntActi P0DI81. 9 interactions.
    MINTi MINT-155352.

    Polymorphism databases

    DMDMi 347662477.

    Proteomic databases

    MaxQBi P0DI81.
    PRIDEi P0DI81.

    Protocols and materials databases

    DNASUi 6399.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000359680 ; ENSP00000352708 ; ENSG00000196459 . [P0DI81-1 ]
    ENST00000380579 ; ENSP00000369953 ; ENSG00000196459 . [P0DI81-1 ]
    ENST00000458511 ; ENSP00000392495 ; ENSG00000196459 . [P0DI81-3 ]
    GeneIDi 6399.
    KEGGi hsa:6399.
    UCSCi uc010nej.2. human. [P0DI81-3 ]
    uc010nem.2. human. [P0DI81-2 ]
    uc022btf.1. human.

    Organism-specific databases

    CTDi 6399.
    GeneCardsi GC0XM013640.
    GeneReviewsi TRAPPC2.
    HGNCi HGNC:23068. TRAPPC2.
    HPAi CAB004665.
    MIMi 300202. gene.
    313400. phenotype.
    neXtProti NX_P0DI81.
    Orphaneti 93284. Spondyloepiphyseal dysplasia tarda.
    GenAtlasi Search...

    Phylogenomic databases

    OMAi GHNDNPI.
    OrthoDBi EOG7JQBQ9.
    PhylomeDBi P0DI81.
    TreeFami TF314814.

    Miscellaneous databases

    ChiTaRSi TRAPPC2. human.
    GeneWikii TRAPPC2.
    GenomeRNAii 6399.
    NextBioi 24860.
    PROi P0DI81.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P0DI81.
    Bgeei P0DI81.
    CleanExi HS_TRAPPC2.
    Genevestigatori O14582.

    Family and domain databases

    InterProi IPR011012. Longin-like_dom.
    IPR006722. Sedlin.
    [Graphical view ]
    PANTHERi PTHR12403. PTHR12403. 1 hit.
    Pfami PF04628. Sedlin_N. 1 hit.
    [Graphical view ]
    SUPFAMi SSF64356. SSF64356. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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. Cited for: IDENTIFICATION IN TRAPP COMPLEX.
    7. 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. 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.

    Entry informationi

    Entry nameiTPC2A_HUMAN
    AccessioniPrimary (citable) accession number: P0DI81
    Secondary accession number(s): A6NEG0, O14582, Q9HD16
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 21, 2011
    Last sequence update: September 21, 2011
    Last modified: October 1, 2014
    This is version 30 of the entry and version 1 of the sequence. [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

    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.

    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

    External Data

    Dasty 3