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O15040

- TCPR2_HUMAN

UniProt

O15040 - TCPR2_HUMAN

Protein

Tectonin beta-propeller repeat-containing protein 2

Gene

TECPR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 4 (30 Nov 2010)
      Previous versions | rss
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    Functioni

    Probably plays a role as positive regulator of autophagy.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. autophagy Source: UniProtKB-KW
    2. cell death Source: UniProtKB-KW

    Keywords - Biological processi

    Autophagy

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Tectonin beta-propeller repeat-containing protein 2
    Alternative name(s):
    WD repeat-containing protein KIAA0329/KIAA0297
    Gene namesi
    Name:TECPR2
    Synonyms:KIAA0297, KIAA0329
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19957. TECPR2.

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 49, autosomal recessive (SPG49) [MIM:615031]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG49 is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi615031. phenotype.
    Orphaneti320385. Autosomal recessive spastic paraplegia type 49.
    PharmGKBiPA164726437.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14111411Tectonin beta-propeller repeat-containing protein 2PRO_0000050747Add
    BLAST

    Proteomic databases

    MaxQBiO15040.
    PaxDbiO15040.
    PRIDEiO15040.

    PTM databases

    PhosphoSiteiO15040.

    Expressioni

    Tissue specificityi

    Detected in skin fibroblast (at protein level).1 Publication

    Gene expression databases

    BgeeiO15040.
    CleanExiHS_KIAA0329.
    GenevestigatoriO15040.

    Organism-specific databases

    HPAiHPA000658.

    Interactioni

    Subunit structurei

    Interacts with the ATG8 family members GABARAP, GABARAPL1, GABARAPL2, MAP1LC3B and MAP1LC3C.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GABARAPO951662EBI-2946991,EBI-712001
    GABARAPL1Q9H0R82EBI-2946991,EBI-746969
    GABARAPL2P605202EBI-2946991,EBI-720116
    MAP1LC3CQ9BXW42EBI-2946991,EBI-2603996

    Protein-protein interaction databases

    BioGridi115224. 2 interactions.
    IntActiO15040. 5 interactions.
    STRINGi9606.ENSP00000352510.

    Structurei

    3D structure databases

    ProteinModelPortaliO15040.
    SMRiO15040. Positions 47-144, 172-197, 1166-1194.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati30 – 7142WD 1Add
    BLAST
    Repeati125 – 16339WD 2Add
    BLAST
    Repeati170 – 20738WD 3Add
    BLAST
    Repeati945 – 97632TECPR 1Add
    BLAST
    Repeati994 – 102734TECPR 2Add
    BLAST
    Repeati1179 – 120931TECPR 3Add
    BLAST
    Repeati1226 – 125934TECPR 4Add
    BLAST
    Repeati1279 – 131032TECPR 5Add
    BLAST
    Repeati1322 – 135332TECPR 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi462 – 47110Poly-Lys

    Sequence similaritiesi

    Belongs to the WD repeat KIAA0329 family.Curated
    Contains 6 TECPR repeats.Curated
    Contains 3 WD repeats.Curated

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG268164.
    HOGENOMiHOG000113144.
    HOVERGENiHBG081819.
    InParanoidiO15040.
    OMAiLDQGVCN.
    OrthoDBiEOG7VHSWN.
    PhylomeDBiO15040.
    TreeFamiTF323607.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR006624. Beta-propeller_rpt_TECPR.
    IPR009091. RCC1/BLIP-II.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF06462. Hyd_WA. 6 hits.
    [Graphical view]
    SMARTiSM00706. TECPR. 10 hits.
    SM00320. WD40. 3 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 2 hits.
    SSF50985. SSF50985. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O15040-1) [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

    MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV     50
    GSSIGMLYLY CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR 100
    VAVFQLVSSL PGRNKQLRRF DVTGIHKNSI TALAWSPNGM KLFSGDDKGK 150
    IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY SQKVLLVSTL QRSLLFYTEE 200
    KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL RLWKADVHGT 250
    VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW 300
    VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR 350
    ISSRPEGLTS TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS 400
    SVASEPRSRS SSLNSTDSGS GLLPPGLQAT PELGKGSQPL SQRFNAISSE 450
    DFDQELVVKP IKVKRKKKKK KTEGGSRSTC HSSLESTPCS EFPGDSPQSL 500
    NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE NTDPETFNVL 550
    EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE 600
    PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV 650
    PSSLSWAPSA EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA 700
    VTDDDTGQKE IPISERVLGS VGGQLTPVSA LAASTHKPWL EQPPRDQTLT 750
    SSDEEDIYAH GLPSSSSETS VTELGPSCSQ QDLSRLGAED AGLLKPDQFA 800
    ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA GLRWQKFEDA 850
    VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS 900
    DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL 950
    TEQRALLYRE GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD 1000
    IHGNLWFRTG IISKKPQGDD DHWWQVSITD YVVFDQCSLF QTIIHATHSV 1050
    ATAAQAPVEK VADKLRMAFW SQQLQCQPSL LGVNNSGVWI SSGKNEFHVA 1100
    KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW LCQSSKDLCS 1150
    VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP 1200
    TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL 1250
    MLPAWIMIEP PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM 1300
    PVGTAWEHVP GLQACQLALS TRTVWARCPN GDLARRYGVT DKNPAGDYWK 1350
    KIPGSVSCFT VTASDELWAV GPPGYLLQRL TKTFSHSHGT QKSSQAAMPH 1400
    PEDLEDEWEV I 1411
    Length:1,411
    Mass (Da):153,848
    Last modified:November 30, 2010 - v4
    Checksum:i7B7C699A614AD547
    GO
    Isoform 2 (identifier: O15040-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1264-1267: PAGV → VSRS
         1268-1411: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,267
    Mass (Da):137,944
    Checksum:i062E4192DD8856DC
    GO

    Sequence cautioni

    The sequence BAA20787.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti60 – 601Y → H in AAI42668. (PubMed:15489334)Curated
    Sequence conflicti60 – 601Y → H in AAI42716. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti320 – 3201V → I.2 Publications
    Corresponds to variant rs1309353 [ dbSNP | Ensembl ].
    VAR_046529
    Natural varianti386 – 3861A → T.
    Corresponds to variant rs11845676 [ dbSNP | Ensembl ].
    VAR_046530
    Natural varianti439 – 4391P → S.
    Corresponds to variant rs2273906 [ dbSNP | Ensembl ].
    VAR_046531
    Natural varianti683 – 6831I → V.
    Corresponds to variant rs10149146 [ dbSNP | Ensembl ].
    VAR_046532

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1264 – 12674PAGV → VSRS in isoform 2. 1 PublicationVSP_044793
    Alternative sequencei1268 – 1411144Missing in isoform 2. 1 PublicationVSP_044794Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB002295 mRNA. Translation: BAA20757.1.
    AB002327 mRNA. Translation: BAA20787.2. Different initiation.
    AL137229 Genomic DNA. No translation available.
    AL136293 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81789.1.
    BC136647 mRNA. Translation: AAI36648.1.
    BC142667 mRNA. Translation: AAI42668.1.
    BC142715 mRNA. Translation: AAI42716.1.
    BC151230 mRNA. Translation: AAI51231.1.
    CCDSiCCDS32162.1. [O15040-1]
    CCDS58337.1. [O15040-2]
    RefSeqiNP_001166102.1. NM_001172631.1. [O15040-2]
    NP_055659.2. NM_014844.3. [O15040-1]
    UniGeneiHs.195667.

    Genome annotation databases

    EnsembliENST00000359520; ENSP00000352510; ENSG00000196663. [O15040-1]
    ENST00000558678; ENSP00000453671; ENSG00000196663. [O15040-2]
    GeneIDi9895.
    KEGGihsa:9895.
    UCSCiuc001ylw.2. human. [O15040-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB002295 mRNA. Translation: BAA20757.1 .
    AB002327 mRNA. Translation: BAA20787.2 . Different initiation.
    AL137229 Genomic DNA. No translation available.
    AL136293 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81789.1 .
    BC136647 mRNA. Translation: AAI36648.1 .
    BC142667 mRNA. Translation: AAI42668.1 .
    BC142715 mRNA. Translation: AAI42716.1 .
    BC151230 mRNA. Translation: AAI51231.1 .
    CCDSi CCDS32162.1. [O15040-1 ]
    CCDS58337.1. [O15040-2 ]
    RefSeqi NP_001166102.1. NM_001172631.1. [O15040-2 ]
    NP_055659.2. NM_014844.3. [O15040-1 ]
    UniGenei Hs.195667.

    3D structure databases

    ProteinModelPortali O15040.
    SMRi O15040. Positions 47-144, 172-197, 1166-1194.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115224. 2 interactions.
    IntActi O15040. 5 interactions.
    STRINGi 9606.ENSP00000352510.

    PTM databases

    PhosphoSitei O15040.

    Proteomic databases

    MaxQBi O15040.
    PaxDbi O15040.
    PRIDEi O15040.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000359520 ; ENSP00000352510 ; ENSG00000196663 . [O15040-1 ]
    ENST00000558678 ; ENSP00000453671 ; ENSG00000196663 . [O15040-2 ]
    GeneIDi 9895.
    KEGGi hsa:9895.
    UCSCi uc001ylw.2. human. [O15040-1 ]

    Organism-specific databases

    CTDi 9895.
    GeneCardsi GC14P102829.
    HGNCi HGNC:19957. TECPR2.
    HPAi HPA000658.
    MIMi 615000. gene.
    615031. phenotype.
    neXtProti NX_O15040.
    Orphaneti 320385. Autosomal recessive spastic paraplegia type 49.
    PharmGKBi PA164726437.
    HUGEi Search...
    Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG268164.
    HOGENOMi HOG000113144.
    HOVERGENi HBG081819.
    InParanoidi O15040.
    OMAi LDQGVCN.
    OrthoDBi EOG7VHSWN.
    PhylomeDBi O15040.
    TreeFami TF323607.

    Miscellaneous databases

    GenomeRNAii 9895.
    NextBioi 37307.
    PROi O15040.
    SOURCEi Search...

    Gene expression databases

    Bgeei O15040.
    CleanExi HS_KIAA0329.
    Genevestigatori O15040.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR006624. Beta-propeller_rpt_TECPR.
    IPR009091. RCC1/BLIP-II.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF06462. Hyd_WA. 6 hits.
    [Graphical view ]
    SMARTi SM00706. TECPR. 10 hits.
    SM00320. WD40. 3 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 2 hits.
    SSF50985. SSF50985. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-320.
      Tissue: Brain.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. 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] (ISOFORMS 1 AND 2), VARIANT ILE-320.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "Network organization of the human autophagy system."
      Behrends C., Sowa M.E., Gygi S.P., Harper J.W.
      Nature 466:68-76(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GABARAP; GABARAPL1; GABARAPL2; MAP1LC3B AND MAP1LC3C.
    7. Cited for: INVOLVEMENT IN SPG49, FUNCTION IN AUTOPHAGY REGULATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiTCPR2_HUMAN
    AccessioniPrimary (citable) accession number: O15040
    Secondary accession number(s): A5PKY3
    , A6NFY9, A7E2X3, H0YMM9, Q9UEG6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: November 30, 2010
    Last modified: October 1, 2014
    This is version 115 of the entry and version 4 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 14
      Human chromosome 14: 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