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Q49AM3

- TTC31_HUMAN

UniProt

Q49AM3 - TTC31_HUMAN

Protein

Tetratricopeptide repeat protein 31

Gene

TTC31

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 78 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tetratricopeptide repeat protein 31
    Short name:
    TPR repeat protein 31
    Gene namesi
    Name:TTC31
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25759. TTC31.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145147843.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 519519Tetratricopeptide repeat protein 31PRO_0000281149Add
    BLAST

    Proteomic databases

    MaxQBiQ49AM3.
    PaxDbiQ49AM3.
    PRIDEiQ49AM3.

    PTM databases

    PhosphoSiteiQ49AM3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ49AM3.
    BgeeiQ49AM3.
    CleanExiHS_TTC31.
    GenevestigatoriQ49AM3.

    Organism-specific databases

    HPAiHPA041783.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000233623.

    Structurei

    3D structure databases

    ProteinModelPortaliQ49AM3.
    SMRiQ49AM3. Positions 302-401.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati305 – 33834TPR 1Add
    BLAST
    Repeati339 – 37234TPR 2Add
    BLAST
    Repeati373 – 40634TPR 3Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili147 – 19751Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 3 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiNOG305435.
    HOGENOMiHOG000154705.
    HOVERGENiHBG086296.
    InParanoidiQ49AM3.
    OMAiKSFLYPP.
    PhylomeDBiQ49AM3.
    TreeFamiTF341776.

    Family and domain databases

    Gene3Di1.25.40.10. 1 hit.
    InterProiIPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF07719. TPR_2. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 3 hits.
    [Graphical view]
    PROSITEiPS50005. TPR. 2 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q49AM3-1) [UniParc]FASTAAdd to Basket

    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

    MAPIPKTVGR IKLDCSLRPS CPLEVAAAPK LCKEFGPEDY GEEDIVDFLR    50
    RLVESDPQGL HRIHVDGSSG RLQLWHHDYL LGHLDDEGKS TGQSDRGKGA 100
    EGLGTYCGLR KSFLYPPQES EPCPQSPSAS ATFPSVSDSL LQVAMPQKLL 150
    VTEEEANRLA EELVAEEERM KQKAEKKRLK KKRQKERKRQ ERLEQYCGEP 200
    KASTTSDGDE SPPSSPGNPV QGQCGEEEDS LDLSSTFVSL ALRKVGDWPL 250
    SARREKGLNQ EPQGRGLALQ KMGQEEESPP REERPQQSPK VQASPGLLAA 300
    ALQQSQELAK LGTSFAQNGF YHEAVVLFTQ ALKLNPQDHR LFGNRSFCHE 350
    RLGQPAWALA DAQVALTLRP GWPRGLFRLG KALMGLQRFR EAAAVFQETL 400
    RGGSQPDAAR ELRSCLLHLT LQGQRGGICA PPLSPGALQP LPHAELAPSG 450
    LPSLRCPRST ALRSPGLSPL LHYPSCHRSH PNQPLSQTQS RRPHPLKPQD 500
    PSKGWDILGL GLQHLSQAR 519
    Length:519
    Mass (Da):57,105
    Last modified:November 25, 2008 - v3
    Checksum:iB618E043E0FBD78E
    GO
    Isoform 2 (identifier: Q49AM3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         281-285: REERP → ATSPC
         286-519: Missing.

    Show »
    Length:285
    Mass (Da):31,450
    Checksum:iF8E931CF4B82D3AB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti141 – 1411L → P in BAB14272. (PubMed:14702039)Curated
    Sequence conflicti216 – 2161P → T in AAH36017. (PubMed:15489334)Curated
    Sequence conflicti413 – 4131R → H in AAH36017. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281A → V.1 Publication
    Corresponds to variant rs6707475 [ dbSNP | Ensembl ].
    VAR_047357
    Natural varianti205 – 2051T → P.
    Corresponds to variant rs35852562 [ dbSNP | Ensembl ].
    VAR_047358

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei281 – 2855REERP → ATSPC in isoform 2. 2 PublicationsVSP_023990
    Alternative sequencei286 – 519234Missing in isoform 2. 2 PublicationsVSP_023991Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022850 mRNA. Translation: BAB14272.1.
    AC005041 Genomic DNA. No translation available.
    BC036017 mRNA. Translation: AAH36017.1.
    BC096709 mRNA. Translation: AAH96709.1.
    AK223355 mRNA. Translation: BAD97075.1.
    CCDSiCCDS42701.1. [Q49AM3-1]
    RefSeqiNP_071937.4. NM_022492.4. [Q49AM3-1]
    UniGeneiHs.557709.

    Genome annotation databases

    EnsembliENST00000233623; ENSP00000233623; ENSG00000115282. [Q49AM3-1]
    GeneIDi64427.
    KEGGihsa:64427.
    UCSCiuc002slt.2. human. [Q49AM3-1]

    Polymorphism databases

    DMDMi215274203.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022850 mRNA. Translation: BAB14272.1 .
    AC005041 Genomic DNA. No translation available.
    BC036017 mRNA. Translation: AAH36017.1 .
    BC096709 mRNA. Translation: AAH96709.1 .
    AK223355 mRNA. Translation: BAD97075.1 .
    CCDSi CCDS42701.1. [Q49AM3-1 ]
    RefSeqi NP_071937.4. NM_022492.4. [Q49AM3-1 ]
    UniGenei Hs.557709.

    3D structure databases

    ProteinModelPortali Q49AM3.
    SMRi Q49AM3. Positions 302-401.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000233623.

    PTM databases

    PhosphoSitei Q49AM3.

    Polymorphism databases

    DMDMi 215274203.

    Proteomic databases

    MaxQBi Q49AM3.
    PaxDbi Q49AM3.
    PRIDEi Q49AM3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000233623 ; ENSP00000233623 ; ENSG00000115282 . [Q49AM3-1 ]
    GeneIDi 64427.
    KEGGi hsa:64427.
    UCSCi uc002slt.2. human. [Q49AM3-1 ]

    Organism-specific databases

    CTDi 64427.
    GeneCardsi GC02P074710.
    HGNCi HGNC:25759. TTC31.
    HPAi HPA041783.
    neXtProti NX_Q49AM3.
    PharmGKBi PA145147843.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG305435.
    HOGENOMi HOG000154705.
    HOVERGENi HBG086296.
    InParanoidi Q49AM3.
    OMAi KSFLYPP.
    PhylomeDBi Q49AM3.
    TreeFami TF341776.

    Miscellaneous databases

    GenomeRNAii 64427.
    NextBioi 66433.
    PROi Q49AM3.

    Gene expression databases

    ArrayExpressi Q49AM3.
    Bgeei Q49AM3.
    CleanExi HS_TTC31.
    Genevestigatori Q49AM3.

    Family and domain databases

    Gene3Di 1.25.40.10. 1 hit.
    InterProi IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR013105. TPR_2.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF07719. TPR_2. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 3 hits.
    [Graphical view ]
    PROSITEi PS50005. TPR. 2 hits.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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).
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 1 AND 2), VARIANT VAL-28.
      Tissue: Testis.
    4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-369.
      Tissue: Testis.

    Entry informationi

    Entry nameiTTC31_HUMAN
    AccessioniPrimary (citable) accession number: Q49AM3
    Secondary accession number(s): Q4KN40, Q53FD4, Q9H9F7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 78 of the entry and version 3 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3