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O15040

- TCPR2_HUMAN

UniProt

O15040 - TCPR2_HUMAN

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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

Functioni

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

GO - Biological processi

  1. autophagy Source: UniProtKB-KW
  2. cell death Source: UniProtKB-KW
Complete GO annotation...

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 299-348.
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.
GeneTreeiENSGT00530000063527.
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.
IPR029772. TECPR2.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR23287:SF16. PTHR23287:SF16. 1 hit.
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

        10         20         30         40         50
MASISEPVTF REFCPLYYLL NAIPTKIQKG FRSIVVYLTA LDTNGDYIAV
60 70 80 90 100
GSSIGMLYLY CRHLNQMRKY NFEGKTESIT VVKLLSCFDD LVAAGTASGR
110 120 130 140 150
VAVFQLVSSL PGRNKQLRRF DVTGIHKNSI TALAWSPNGM KLFSGDDKGK
160 170 180 190 200
IVYSSLDLDQ GLCNSQLVLE EPSSIVQLDY SQKVLLVSTL QRSLLFYTEE
210 220 230 240 250
KSVRQIGTQP RKSTGKFGAC FIPGLCKQSD LTLYASRPGL RLWKADVHGT
260 270 280 290 300
VQATFILKDA FAGGVKPFEL HPRLESPNSG SCSLPERHLG LVSCFFQEGW
310 320 330 340 350
VLSWNEYSIY LLDTVNQATV AGLEGSGDIV SVSCTENEIF FLKGDRNIIR
360 370 380 390 400
ISSRPEGLTS TVRDGLEMSG CSERVHVQQA EKLPGATVSE TRLRGSSMAS
410 420 430 440 450
SVASEPRSRS SSLNSTDSGS GLLPPGLQAT PELGKGSQPL SQRFNAISSE
460 470 480 490 500
DFDQELVVKP IKVKRKKKKK KTEGGSRSTC HSSLESTPCS EFPGDSPQSL
510 520 530 540 550
NTDLLSMTSS VLGSSVDQLS AESPDQESSF NGEVNGVPQE NTDPETFNVL
560 570 580 590 600
EVSGSMPDSL AEEDDIRTEM PHCHHAHGRE LLNGAREDVG GSDVTGLGDE
610 620 630 640 650
PCPADDGPNS TQLPFQEQDS SPGAHDGEDI QPIGPQSTFC EVPLLNSLTV
660 670 680 690 700
PSSLSWAPSA EQWLPGTRAD EGSPVEPSQE QDILTSMEAS GHLSTNLWHA
710 720 730 740 750
VTDDDTGQKE IPISERVLGS VGGQLTPVSA LAASTHKPWL EQPPRDQTLT
760 770 780 790 800
SSDEEDIYAH GLPSSSSETS VTELGPSCSQ QDLSRLGAED AGLLKPDQFA
810 820 830 840 850
ESWMGYSGPG YGILSLVVSE KYIWCLDYKG GLFCSALPGA GLRWQKFEDA
860 870 880 890 900
VQQVAVSPSG ALLWKIEQKS NRAFACGKVT IKGKRHWYEA LPQAVFVALS
910 920 930 940 950
DDTAWIIRTS GDLYLQTGLS VDRPCARAVK VDCPYPLSQI TARNNVVWAL
960 970 980 990 1000
TEQRALLYRE GVSSFCPEGE QWKCDIVSER QALEPVCITL GDQQTLWALD
1010 1020 1030 1040 1050
IHGNLWFRTG IISKKPQGDD DHWWQVSITD YVVFDQCSLF QTIIHATHSV
1060 1070 1080 1090 1100
ATAAQAPVEK VADKLRMAFW SQQLQCQPSL LGVNNSGVWI SSGKNEFHVA
1110 1120 1130 1140 1150
KGSLIGTYWN HVVPRGTASA TKWAFVLASA APTKEGSFLW LCQSSKDLCS
1160 1170 1180 1190 1200
VSAQSAQSRP STVQLPPEAE MRAYAACQDA LWALDSLGQV FIRTLSKSCP
1210 1220 1230 1240 1250
TGMHWTRLDL SQLGAVKLTS LACGNQHIWA CDSRGGVYFR VGTQPLNPSL
1260 1270 1280 1290 1300
MLPAWIMIEP PVQPAGVSLV SVHSSPNDQM LWVLDSRWNV HVRTGITEEM
1310 1320 1330 1340 1350
PVGTAWEHVP GLQACQLALS TRTVWARCPN GDLARRYGVT DKNPAGDYWK
1360 1370 1380 1390 1400
KIPGSVSCFT VTASDELWAV GPPGYLLQRL TKTFSHSHGT QKSSQAAMPH
1410
PEDLEDEWEV I
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 299-348.
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.
GeneTreei ENSGT00530000063527.
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.
IPR029772. TECPR2.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
PANTHERi PTHR23287:SF16. PTHR23287:SF16. 1 hit.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 116 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