TCPR2_HUMAN
ID TCPR2_HUMAN Reviewed; 1411 AA.
AC O15040; A5PKY3; A6NFY9; A7E2X3; H0YMM9; Q9UEG6;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Tectonin beta-propeller repeat-containing protein 2;
DE AltName: Full=WD repeat-containing protein KIAA0329/KIAA0297;
GN Name=TECPR2; Synonyms=KIAA0297, KIAA0329;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-320.
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ILE-320.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP INTERACTION WITH GABARAP; GABARAPL1; GABARAPL2; MAP1LC3B AND MAP1LC3C.
RX PubMed=20562859; DOI=10.1038/nature09204;
RA Behrends C., Sowa M.E., Gygi S.P., Harper J.W.;
RT "Network organization of the human autophagy system.";
RL Nature 466:68-76(2010).
RN [7]
RP INVOLVEMENT IN HSAN9, FUNCTION IN AUTOPHAGY REGULATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=23176824; DOI=10.1016/j.ajhg.2012.09.015;
RA Oz-Levi D., Ben-Zeev B., Ruzzo E.K., Hitomi Y., Gelman A., Pelak K.,
RA Anikster Y., Reznik-Wolf H., Bar-Joseph I., Olender T., Alkelai A.,
RA Weiss M., Ben-Asher E., Ge D., Shianna K.V., Elazar Z., Goldstein D.B.,
RA Pras E., Lancet D.;
RT "Mutation in TECPR2 reveals a role for autophagy in hereditary spastic
RT paraparesis.";
RL Am. J. Hum. Genet. 91:1065-1072(2012).
CC -!- FUNCTION: Probably plays a role as positive regulator of autophagy.
CC {ECO:0000269|PubMed:23176824}.
CC -!- SUBUNIT: Interacts with the ATG8 family members GABARAP, GABARAPL1,
CC GABARAPL2, MAP1LC3B and MAP1LC3C. {ECO:0000269|PubMed:20562859}.
CC -!- INTERACTION:
CC O15040; O95166: GABARAP; NbExp=2; IntAct=EBI-2946991, EBI-712001;
CC O15040; Q9H0R8: GABARAPL1; NbExp=2; IntAct=EBI-2946991, EBI-746969;
CC O15040; P60520: GABARAPL2; NbExp=2; IntAct=EBI-2946991, EBI-720116;
CC O15040; Q9BXW4: MAP1LC3C; NbExp=2; IntAct=EBI-2946991, EBI-2603996;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O15040-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O15040-2; Sequence=VSP_044793, VSP_044794;
CC -!- TISSUE SPECIFICITY: Detected in skin fibroblast (at protein level).
CC {ECO:0000269|PubMed:23176824}.
CC -!- DISEASE: Neuropathy, hereditary sensory and autonomic, 9, with
CC developmental delay (HSAN9) [MIM:615031]: A form of hereditary sensory
CC and autonomic neuropathy, a genetically and clinically heterogeneous
CC group of disorders characterized by degeneration of dorsal root and
CC autonomic ganglion cells, and by sensory and/or autonomic
CC abnormalities. HSAN9 is characterized by global developmental delay and
CC intellectual disability, axial and appendicular hypotonia, dysarthria,
CC and an abnormal gait that is often described as ataxic. Other features
CC may include peripheral neuropathy, hyporeflexia, and autonomic
CC dysfunction. Affected individuals also have dysmorphic features, thin
CC corpus callosum on brain imaging, and episodes of central apnea, which
CC may be fatal. {ECO:0000269|PubMed:23176824}. Note=The disease is caused
CC by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the WD repeat KIAA0329 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20787.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB002295; BAA20757.1; -; mRNA.
DR EMBL; AB002327; BAA20787.2; ALT_INIT; mRNA.
DR EMBL; AL137229; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136293; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471061; EAW81789.1; -; Genomic_DNA.
DR EMBL; BC136647; AAI36648.1; -; mRNA.
DR EMBL; BC142667; AAI42668.1; -; mRNA.
DR EMBL; BC142715; AAI42716.1; -; mRNA.
DR EMBL; BC151230; AAI51231.1; -; mRNA.
DR CCDS; CCDS32162.1; -. [O15040-1]
DR CCDS; CCDS58337.1; -. [O15040-2]
DR RefSeq; NP_001166102.1; NM_001172631.2. [O15040-2]
DR RefSeq; NP_055659.2; NM_014844.4. [O15040-1]
DR AlphaFoldDB; O15040; -.
DR SMR; O15040; -.
DR BioGRID; 115224; 15.
DR IntAct; O15040; 12.
DR MINT; O15040; -.
DR STRING; 9606.ENSP00000352510; -.
DR GlyGen; O15040; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O15040; -.
DR PhosphoSitePlus; O15040; -.
DR BioMuta; TECPR2; -.
DR EPD; O15040; -.
DR jPOST; O15040; -.
DR MassIVE; O15040; -.
DR MaxQB; O15040; -.
DR PaxDb; O15040; -.
DR PeptideAtlas; O15040; -.
DR PRIDE; O15040; -.
DR ProteomicsDB; 40302; -.
DR ProteomicsDB; 48395; -. [O15040-1]
DR Antibodypedia; 64; 38 antibodies from 11 providers.
DR DNASU; 9895; -.
DR Ensembl; ENST00000359520.12; ENSP00000352510.7; ENSG00000196663.16. [O15040-1]
DR Ensembl; ENST00000558678.1; ENSP00000453671.1; ENSG00000196663.16. [O15040-2]
DR GeneID; 9895; -.
DR KEGG; hsa:9895; -.
DR MANE-Select; ENST00000359520.12; ENSP00000352510.7; NM_014844.5; NP_055659.2.
DR UCSC; uc001ylw.2; human. [O15040-1]
DR CTD; 9895; -.
DR DisGeNET; 9895; -.
DR GeneCards; TECPR2; -.
DR HGNC; HGNC:19957; TECPR2.
DR HPA; ENSG00000196663; Low tissue specificity.
DR MalaCards; TECPR2; -.
DR MIM; 615000; gene.
DR MIM; 615031; phenotype.
DR neXtProt; NX_O15040; -.
DR OpenTargets; ENSG00000196663; -.
DR Orphanet; 320385; Hereditary sensory and autonomic neuropathy due to TECPR2 mutation.
DR PharmGKB; PA164726437; -.
DR VEuPathDB; HostDB:ENSG00000196663; -.
DR eggNOG; KOG3621; Eukaryota.
DR eggNOG; KOG3669; Eukaryota.
DR GeneTree; ENSGT00940000157283; -.
DR HOGENOM; CLU_005841_0_0_1; -.
DR InParanoid; O15040; -.
DR OMA; DQMLWVL; -.
DR OrthoDB; 881551at2759; -.
DR PhylomeDB; O15040; -.
DR TreeFam; TF323607; -.
DR PathwayCommons; O15040; -.
DR SignaLink; O15040; -.
DR BioGRID-ORCS; 9895; 12 hits in 1066 CRISPR screens.
DR ChiTaRS; TECPR2; human.
DR GenomeRNAi; 9895; -.
DR Pharos; O15040; Tbio.
DR PRO; PR:O15040; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; O15040; protein.
DR Bgee; ENSG00000196663; Expressed in secondary oocyte and 175 other tissues.
DR Genevisible; O15040; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:GOC.
DR GO; GO:0006914; P:autophagy; IEA:UniProtKB-KW.
DR GO; GO:0032527; P:protein exit from endoplasmic reticulum; IMP:CACAO.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR006624; Beta-propeller_rpt_TECPR.
DR InterPro; IPR009091; RCC1/BLIP-II.
DR InterPro; IPR029772; TECPR2.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR23287:SF16; PTHR23287:SF16; 1.
DR Pfam; PF06462; Hyd_WA; 2.
DR Pfam; PF19193; Tectonin; 1.
DR SMART; SM00706; TECPR; 10.
DR SMART; SM00320; WD40; 3.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF50985; SSF50985; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Autophagy; Hereditary spastic paraplegia;
KW Neurodegeneration; Neuropathy; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1411
FT /note="Tectonin beta-propeller repeat-containing protein 2"
FT /id="PRO_0000050747"
FT REPEAT 23..66
FT /note="WD 1"
FT REPEAT 67..114
FT /note="WD 2"
FT REPEAT 115..161
FT /note="WD 3"
FT REPEAT 162..203
FT /note="WD 4"
FT REPEAT 204..265
FT /note="WD 5"
FT REPEAT 266..309
FT /note="WD 6"
FT REPEAT 310..343
FT /note="WD 7"
FT REPEAT 945..976
FT /note="TECPR 1"
FT REPEAT 994..1027
FT /note="TECPR 2"
FT REPEAT 1179..1209
FT /note="TECPR 3"
FT REPEAT 1226..1259
FT /note="TECPR 4"
FT REPEAT 1279..1310
FT /note="TECPR 5"
FT REPEAT 1322..1353
FT /note="TECPR 6"
FT REGION 379..439
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 463..542
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 579..637
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 758..779
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1388..1411
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 390..423
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 477..542
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 762..779
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1264..1267
FT /note="PAGV -> VSRS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044793"
FT VAR_SEQ 1268..1411
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044794"
FT VARIANT 320
FT /note="V -> I (in dbSNP:rs1309353)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9205841"
FT /id="VAR_046529"
FT VARIANT 386
FT /note="A -> T (in dbSNP:rs11845676)"
FT /id="VAR_046530"
FT VARIANT 439
FT /note="P -> S (in dbSNP:rs2273906)"
FT /id="VAR_046531"
FT VARIANT 683
FT /note="I -> V (in dbSNP:rs10149146)"
FT /id="VAR_046532"
FT CONFLICT 60
FT /note="Y -> H (in Ref. 4; AAI42668/AAI42716)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1411 AA; 153848 MW; 7B7C699A614AD547 CRC64;
MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV GSSIGMLYLY
CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR VAVFQLVSSL PGRNKQLRRF
DVTGIHKNSI TALAWSPNGM KLFSGDDKGK IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY
SQKVLLVSTL QRSLLFYTEE KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL
RLWKADVHGT VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW
VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR ISSRPEGLTS
TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS SVASEPRSRS SSLNSTDSGS
GLLPPGLQAT PELGKGSQPL SQRFNAISSE DFDQELVVKP IKVKRKKKKK KTEGGSRSTC
HSSLESTPCS EFPGDSPQSL NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE
NTDPETFNVL EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE
PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV PSSLSWAPSA
EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA VTDDDTGQKE IPISERVLGS
VGGQLTPVSA LAASTHKPWL EQPPRDQTLT SSDEEDIYAH GLPSSSSETS VTELGPSCSQ
QDLSRLGAED AGLLKPDQFA ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA
GLRWQKFEDA VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS
DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL TEQRALLYRE
GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD IHGNLWFRTG IISKKPQGDD
DHWWQVSITD YVVFDQCSLF QTIIHATHSV ATAAQAPVEK VADKLRMAFW SQQLQCQPSL
LGVNNSGVWI SSGKNEFHVA KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW
LCQSSKDLCS VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP
TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL MLPAWIMIEP
PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM PVGTAWEHVP GLQACQLALS
TRTVWARCPN GDLARRYGVT DKNPAGDYWK KIPGSVSCFT VTASDELWAV GPPGYLLQRL
TKTFSHSHGT QKSSQAAMPH PEDLEDEWEV I
