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   24-JAN-2024, entry version 176.
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; 17.
DR   IntAct; O15040; 12.
DR   MINT; O15040; -.
DR   STRING; 9606.ENSP00000352510; -.
DR   GlyCosmos; O15040; 1 site, 1 glycan.
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; 9606-ENSP00000352510; -.
DR   PeptideAtlas; O15040; -.
DR   ProteomicsDB; 40302; -.
DR   ProteomicsDB; 48395; -. [O15040-1]
DR   Pumba; O15040; -.
DR   Antibodypedia; 64; 39 antibodies from 12 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   AGR; HGNC:19957; -.
DR   CTD; 9895; -.
DR   DisGeNET; 9895; -.
DR   GeneCards; TECPR2; -.
DR   GeneReviews; 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; WFRTGVC; -.
DR   OrthoDB; 3675109at2759; -.
DR   PhylomeDB; O15040; -.
DR   TreeFam; TF323607; -.
DR   PathwayCommons; O15040; -.
DR   SignaLink; O15040; -.
DR   BioGRID-ORCS; 9895; 13 hits in 1143 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 177 other cell types or tissues.
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; YVTN repeat-like/Quinoprotein amine dehydrogenase; 1.
DR   InterPro; IPR006624; Beta-propeller_rpt_TECPR.
DR   InterPro; IPR009091; RCC1/BLIP-II.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR   InterPro; IPR036322; WD40_repeat_dom_sf.
DR   InterPro; IPR001680; WD40_rpt.
DR   PANTHER; PTHR23287; RUBY-EYE2-LIKE PROTEIN; 1.
DR   PANTHER; PTHR23287:SF16; TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; 1.
DR   Pfam; PF06462; Hyd_WA; 2.
DR   Pfam; PF19193; Tectonin; 1.
DR   SMART; SM00706; TECPR; 10.
DR   SMART; SM00320; WD40; 3.
DR   SUPFAM; SSF50985; RCC1/BLIP-II; 1.
DR   SUPFAM; SSF50978; WD40 repeat-like; 1.
DR   Genevisible; O15040; HS.
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
//