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O15040 (TCPR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Tectonin beta-propeller repeat-containing protein 2
Alternative name(s):
WD repeat-containing protein KIAA0329/KIAA0297
Gene names
Name:TECPR2
Synonyms:KIAA0297, KIAA0329
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1411 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably plays a role as positive regulator of autophagy. Ref.7

Subunit structure

Interacts with the ATG8 family members GABARAP, GABARAPL1, GABARAPL2, MAP1LC3B and MAP1LC3C. Ref.6

Tissue specificity

Detected in skin fibroblast (at protein level). Ref.7

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the WD repeat KIAA0329 family.

Contains 6 TECPR repeats.

Contains 3 WD repeats.

Sequence caution

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

Ontologies

Keywords
   Biological processAutophagy
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseHereditary spastic paraplegia
Neurodegeneration
   DomainRepeat
WD repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processautophagy

Inferred from electronic annotation. Source: UniProtKB-KW

cell death

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionprotein binding

Inferred from physical interaction Ref.6. Source: IntAct

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O15040-1)

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.
Isoform 2 (identifier: O15040-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1264-1267: PAGV → VSRS
     1268-1411: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14111411Tectonin beta-propeller repeat-containing protein 2
PRO_0000050747

Regions

Repeat30 – 7142WD 1
Repeat125 – 16339WD 2
Repeat170 – 20738WD 3
Repeat945 – 97632TECPR 1
Repeat994 – 102734TECPR 2
Repeat1179 – 120931TECPR 3
Repeat1226 – 125934TECPR 4
Repeat1279 – 131032TECPR 5
Repeat1322 – 135332TECPR 6
Compositional bias462 – 47110Poly-Lys

Natural variations

Alternative sequence1264 – 12674PAGV → VSRS in isoform 2.
VSP_044793
Alternative sequence1268 – 1411144Missing in isoform 2.
VSP_044794
Natural variant3201V → I. Ref.1 Ref.4
Corresponds to variant rs1309353 [ dbSNP | Ensembl ].
VAR_046529
Natural variant3861A → T.
Corresponds to variant rs11845676 [ dbSNP | Ensembl ].
VAR_046530
Natural variant4391P → S.
Corresponds to variant rs2273906 [ dbSNP | Ensembl ].
VAR_046531
Natural variant6831I → V.
Corresponds to variant rs10149146 [ dbSNP | Ensembl ].
VAR_046532

Experimental info

Sequence conflict601Y → H in AAI42668. Ref.4
Sequence conflict601Y → H in AAI42716. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 4.
Checksum: 7B7C699A614AD547

FASTA1,411153,848
        10         20         30         40         50         60 
MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV GSSIGMLYLY 

        70         80         90        100        110        120 
CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR VAVFQLVSSL PGRNKQLRRF 

       130        140        150        160        170        180 
DVTGIHKNSI TALAWSPNGM KLFSGDDKGK IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY 

       190        200        210        220        230        240 
SQKVLLVSTL QRSLLFYTEE KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL 

       250        260        270        280        290        300 
RLWKADVHGT VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW 

       310        320        330        340        350        360 
VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR ISSRPEGLTS 

       370        380        390        400        410        420 
TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS SVASEPRSRS SSLNSTDSGS 

       430        440        450        460        470        480 
GLLPPGLQAT PELGKGSQPL SQRFNAISSE DFDQELVVKP IKVKRKKKKK KTEGGSRSTC 

       490        500        510        520        530        540 
HSSLESTPCS EFPGDSPQSL NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE 

       550        560        570        580        590        600 
NTDPETFNVL EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE 

       610        620        630        640        650        660 
PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV PSSLSWAPSA 

       670        680        690        700        710        720 
EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA VTDDDTGQKE IPISERVLGS 

       730        740        750        760        770        780 
VGGQLTPVSA LAASTHKPWL EQPPRDQTLT SSDEEDIYAH GLPSSSSETS VTELGPSCSQ 

       790        800        810        820        830        840 
QDLSRLGAED AGLLKPDQFA ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA 

       850        860        870        880        890        900 
GLRWQKFEDA VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS 

       910        920        930        940        950        960 
DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL TEQRALLYRE 

       970        980        990       1000       1010       1020 
GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD IHGNLWFRTG IISKKPQGDD 

      1030       1040       1050       1060       1070       1080 
DHWWQVSITD YVVFDQCSLF QTIIHATHSV ATAAQAPVEK VADKLRMAFW SQQLQCQPSL 

      1090       1100       1110       1120       1130       1140 
LGVNNSGVWI SSGKNEFHVA KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW 

      1150       1160       1170       1180       1190       1200 
LCQSSKDLCS VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP 

      1210       1220       1230       1240       1250       1260 
TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL MLPAWIMIEP 

      1270       1280       1290       1300       1310       1320 
PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM PVGTAWEHVP GLQACQLALS 

      1330       1340       1350       1360       1370       1380 
TRTVWARCPN GDLARRYGVT DKNPAGDYWK KIPGSVSCFT VTASDELWAV GPPGYLLQRL 

      1390       1400       1410 
TKTFSHSHGT QKSSQAAMPH PEDLEDEWEV I 

« Hide

Isoform 2 [UniParc].

Checksum: 062E4192DD8856DC
Show »

FASTA1,267137,944

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis."
Oz-Levi D., Ben-Zeev B., Ruzzo E.K., Hitomi Y., Gelman A., Pelak K., Anikster Y., Reznik-Wolf H., Bar-Joseph I., Olender T., Alkelai A., Weiss M., Ben-Asher E., Ge D., Shianna K.V., Elazar Z., Goldstein D.B., Pras E., Lancet D.
Am. J. Hum. Genet. 91:1065-1072(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPG49, FUNCTION IN AUTOPHAGY REGULATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32162.1. [O15040-1]
CCDS58337.1. [O15040-2]
RefSeqNP_001166102.1. NM_001172631.1. [O15040-2]
NP_055659.2. NM_014844.3. [O15040-1]
UniGeneHs.195667.

3D structure databases

ProteinModelPortalO15040.
SMRO15040. Positions 47-144, 172-197, 1166-1194.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115224. 1 interaction.
IntActO15040. 5 interactions.
STRING9606.ENSP00000352510.

PTM databases

PhosphoSiteO15040.

Proteomic databases

MaxQBO15040.
PaxDbO15040.
PRIDEO15040.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000359520; ENSP00000352510; ENSG00000196663. [O15040-1]
ENST00000558678; ENSP00000453671; ENSG00000196663. [O15040-2]
GeneID9895.
KEGGhsa:9895.
UCSCuc001ylw.2. human. [O15040-1]

Organism-specific databases

CTD9895.
GeneCardsGC14P102829.
HGNCHGNC:19957. TECPR2.
HPAHPA000658.
MIM615000. gene.
615031. phenotype.
neXtProtNX_O15040.
Orphanet320385. Autosomal recessive spastic paraplegia type 49.
PharmGKBPA164726437.
HUGESearch...
Search...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268164.
HOGENOMHOG000113144.
HOVERGENHBG081819.
InParanoidO15040.
OMALDQGVCN.
OrthoDBEOG7VHSWN.
PhylomeDBO15040.
TreeFamTF323607.

Gene expression databases

BgeeO15040.
CleanExHS_KIAA0329.
GenevestigatorO15040.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR006624. Beta-propeller_rpt_TECPR.
IPR009091. RCC1/BLIP-II.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF06462. Hyd_WA. 6 hits.
[Graphical view]
SMARTSM00706. TECPR. 10 hits.
SM00320. WD40. 3 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
SSF50985. SSF50985. 2 hits.
ProtoNetSearch...

Other

GenomeRNAi9895.
NextBio37307.
PROO15040.
SOURCESearch...

Entry information

Entry nameTCPR2_HUMAN
AccessionPrimary (citable) accession number: O15040
Secondary accession number(s): A5PKY3 expand/collapse secondary AC list , A6NFY9, A7E2X3, H0YMM9, Q9UEG6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 114 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM