Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Tectonin beta-propeller repeat-containing protein 2

Gene

TECPR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Complete GO annotation...

Keywords - Biological processi

Autophagy

Enzyme and pathway databases

BioCyciZFISH:G66-33613-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19957. TECPR2.

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 49, autosomal recessive (SPG49)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615031

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi9895.
MalaCardsiTECPR2.
MIMi615031. phenotype.
OpenTargetsiENSG00000196663.
Orphaneti320385. Autosomal recessive spastic paraplegia type 49.
PharmGKBiPA164726437.

Polymorphism and mutation databases

BioMutaiTECPR2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507471 – 1411Tectonin beta-propeller repeat-containing protein 2Add BLAST1411

Proteomic databases

MaxQBiO15040.
PaxDbiO15040.
PeptideAtlasiO15040.
PRIDEiO15040.

PTM databases

iPTMnetiO15040.
PhosphoSitePlusiO15040.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000196663.
CleanExiHS_KIAA0329.
GenevisibleiO15040. HS.

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. 7 interactors.
IntActiO15040. 5 interactors.
STRINGi9606.ENSP00000352510.

Structurei

3D structure databases

ProteinModelPortaliO15040.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati23 – 66WD 1Add BLAST44
Repeati67 – 114WD 2Add BLAST48
Repeati115 – 161WD 3Add BLAST47
Repeati162 – 203WD 4Add BLAST42
Repeati204 – 265WD 5Add BLAST62
Repeati266 – 309WD 6Add BLAST44
Repeati310 – 343WD 7Add BLAST34
Repeati945 – 976TECPR 1Add BLAST32
Repeati994 – 1027TECPR 2Add BLAST34
Repeati1179 – 1209TECPR 3Add BLAST31
Repeati1226 – 1259TECPR 4Add BLAST34
Repeati1279 – 1310TECPR 5Add BLAST32
Repeati1322 – 1353TECPR 6Add BLAST32

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi462 – 471Poly-Lys10

Sequence similaritiesi

Belongs to the WD repeat KIAA0329 family.Curated
Contains 6 TECPR repeats.Curated
Contains 7 WD repeats.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG3621. Eukaryota.
KOG3669. Eukaryota.
ENOG410Z1TM. LUCA.
GeneTreeiENSGT00530000063527.
HOGENOMiHOG000113144.
HOVERGENiHBG081819.
InParanoidiO15040.
OMAiGDRDIIR.
OrthoDBiEOG091G01HA.
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. 3 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. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti60Y → H in AAI42668 (PubMed:15489334).Curated1
Sequence conflicti60Y → H in AAI42716 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046529320V → I.2 PublicationsCorresponds to variant rs1309353dbSNPEnsembl.1
Natural variantiVAR_046530386A → T.Corresponds to variant rs11845676dbSNPEnsembl.1
Natural variantiVAR_046531439P → S.Corresponds to variant rs2273906dbSNPEnsembl.1
Natural variantiVAR_046532683I → V.Corresponds to variant rs10149146dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0447931264 – 1267PAGV → VSRS in isoform 2. 1 Publication4
Alternative sequenceiVSP_0447941268 – 1411Missing in isoform 2. 1 PublicationAdd BLAST144

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001172631.2. [O15040-2]
NP_055659.2. NM_014844.4. [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:
EMBLi
GenBanki
DDBJi
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_001172631.2. [O15040-2]
NP_055659.2. NM_014844.4. [O15040-1]
UniGeneiHs.195667.

3D structure databases

ProteinModelPortaliO15040.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115224. 7 interactors.
IntActiO15040. 5 interactors.
STRINGi9606.ENSP00000352510.

PTM databases

iPTMnetiO15040.
PhosphoSitePlusiO15040.

Polymorphism and mutation databases

BioMutaiTECPR2.

Proteomic databases

MaxQBiO15040.
PaxDbiO15040.
PeptideAtlasiO15040.
PRIDEiO15040.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9895.
DisGeNETi9895.
GeneCardsiTECPR2.
HGNCiHGNC:19957. TECPR2.
HPAiHPA000658.
MalaCardsiTECPR2.
MIMi615000. gene.
615031. phenotype.
neXtProtiNX_O15040.
OpenTargetsiENSG00000196663.
Orphaneti320385. Autosomal recessive spastic paraplegia type 49.
PharmGKBiPA164726437.
HUGEiSearch...
Search...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3621. Eukaryota.
KOG3669. Eukaryota.
ENOG410Z1TM. LUCA.
GeneTreeiENSGT00530000063527.
HOGENOMiHOG000113144.
HOVERGENiHBG081819.
InParanoidiO15040.
OMAiGDRDIIR.
OrthoDBiEOG091G01HA.
PhylomeDBiO15040.
TreeFamiTF323607.

Enzyme and pathway databases

BioCyciZFISH:G66-33613-MONOMER.

Miscellaneous databases

ChiTaRSiTECPR2. human.
GenomeRNAii9895.
PROiO15040.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196663.
CleanExiHS_KIAA0329.
GenevisibleiO15040. HS.

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. 3 hits.
[Graphical view]
SMARTiSM00706. TECPR. 10 hits.
SM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF50985. SSF50985. 2 hits.
ProtoNetiSearch...

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: November 2, 2016
This is version 133 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.