(data stored in ACNUC9435 zone)

HOGENOM: HS10_PE2326

ID   HS10_PE2326                          STANDARD;      PRT;   684 AA.
AC   HS10_PE2326; Q96RR1; B2CQL2; Q6MZX2; Q6PJP5; Q96RR0;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Twinkle protein, mitochondrial; EC=3.6.4 12;AltName:
DE   Full=Progressive external ophthalmoplegia 1 protein;AltName: Full=T7
DE   gp4-like protein with intramitochondrial nucleoid localization;AltName:
DE   Full=T7-like mitochondrial DNA helicase;Flags: Precursor; (HS10.PE2326).
GN   Name=PEO1; Synonyms=C10orf2;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS10.PE2326.
CC       Homo sapiens chromosome 10 GRCh37  sequence 1..135524747 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:PEO1_HUMAN
CC   -!- FUNCTION: Involved in mitochondrial DNA (mtDNA) metabolism. Could
CC       function as an adenine nucleotide-dependent DNA helicase. Function
CC       inferred to be critical for lifetime maintenance of mtDNA
CC       integrity. In vitro, forms in combination with POLG, a processive
CC       replication machinery, which can use double-stranded DNA (dsDNA)
CC       as template to synthesize single-stranded DNA (ssDNA) molecules.
CC       May be a key regulator of mtDNA copy number in mammals (By
CC       similarity).
CC   -!- CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
CC   -!- SUBUNIT: Forms multimers in vitro, including hexamers. Interacts
CC       with POLG in vitro.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion
CC       nucleoid. Note=Colocalizes with mtDNA in mitochondrial nucleoids,
CC       a nucleoproteins complex consisting of a number of copies of
CC       proteins associated with mtDNA, probably involved in mtDNA
CC       maintenance and expression.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q96RR1-1; Sequence=Displayed;
CC       Name=2; Synonyms=Twinky;
CC         IsoId=Q96RR1-2; Sequence=VSP_015960, VSP_015961;
CC       Name=3;
CC         IsoId=Q96RR1-3; Sequence=VSP_015959;
CC   -!- TISSUE SPECIFICITY: High relative levels in skeletal muscle,
CC       testis and pancreas. Lower levels of expression in the heart,
CC       brain, placenta, lung, liver, kidney, spleen, thymus, prostate,
CC       ovary, small intestine, colon and leukocytes. Expression is
CC       coregulated with MRPL43.
CC   -!- DISEASE: Defects in PEO1 are the cause of progressive external
CC       ophthalmoplegia with mitochondrial DNA deletions autosomal
CC       dominant type 3 (PEOA3) [MIM:609286]. Progressive external
CC       ophthalmoplegia is characterized by progressive weakness of ocular
CC       muscles and levator muscle of the upper eyelid. In a minority of
CC       cases, it is associated with skeletal myopathy, which
CC       predominantly involves axial or proximal muscles and which causes
CC       abnormal fatigability and even permanent muscle weakness. Ragged-
CC       red fibers and atrophy are found on muscle biopsy. A large
CC       proportion of chronic ophthalmoplegias are associated with other
CC       symptoms, leading to a multisystemic pattern of this disease.
CC       Additional symptoms are variable, and may include cataracts,
CC       hearing loss, sensory axonal neuropathy, ataxia, depression,
CC       hypogonadism, and parkinsonism.
CC   -!- DISEASE: Defects in PEO1 are a cause of sensory ataxic neuropathy
CC       dysarthria and ophthalmoparesis (SANDO) [MIM:607459]. SANDO is a
CC       clinically heterogeneous systemic disorder with variable features
CC       resulting from mitochondrial dysfunction. It shares phenotypic
CC       characteristics with autosomal recessive progressive external
CC       ophthalmoplegia and mitochondrial neurogastrointestinal
CC       encephalopathy syndrome. The clinical triad of symptoms consists
CC       of sensory ataxic, neuropathy, dysarthria, and ophthalmoparesis.
CC   -!- DISEASE: Defects in PEO1 are the cause of mitochondrial DNA
CC       depletion syndrome type 7 (MTDPS7) [MIM:271245]; also known as
CC       spinocerebellar ataxia infantile-onset (IOSCA). A severe disease
CC       associated with mitochondrial dysfunction. Some patients are
CC       affected by progressive atrophy of the cerebellum, brain stem, the
CC       spinal cord, and sensory axonal neuropath. Clinical features
CC       include hypotonia, athetosis, ataxia, ophthalmoplegia,
CC       sensorineural hearing deficit, sensory axonal neuropathy,
CC       epileptic encephalopathy and female hypogonadism. Some individuals
CC       manifest a hepatocerebral phenotype characterized by liver
CC       insufficiency, increased serum and CSF lactate, hypotonia,
CC       psychomotor retardation and peripheral neuropathy.
CC   -!- SIMILARITY: Contains 1 SF4 helicase domain.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/C10orf2";
CC   -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC       URL="http://egp.gs.washington.edu/data/peo1/";
CC   -!- GENE_FAMILY: HOG000273872 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000107815;ENST00000311916;ENSP00000309595.
DR   EMBL; AF292004; - ;
DR   EMBL; AF292005; - ;
DR   EMBL; AK025485; - ;
DR   EMBL; AK297068; - ;
DR   EMBL; AL133215; - ;
DR   EMBL; BC013349; - ;
DR   EMBL; BC033762; - ;
DR   EMBL; BX640829; - ;
DR   EMBL; CH471066; - ;
DR   EMBL; EU543650; - ;
DR   UniProtKB/Swiss-Prot; Q96RR1; B2CQL2; Q6MZX2; Q6PJP5; Q96RR0; -.
DR   EMBL; AF292004; AAK69558.1; -; mRNA.
DR   EMBL; AF292005; AAK69559.1; -; mRNA.
DR   EMBL; BX640829; CAE45905.1; -; mRNA.
DR   EMBL; AL133215; CAI10924.1; -; Genomic_DNA.
DR   EMBL; EU543650; ACB21043.1; -; Genomic_DNA.
DR   EMBL; AL133215; CAI10925.1; -; Genomic_DNA.
DR   EMBL; CH471066; EAW49794.1; -; Genomic_DNA.
DR   EMBL; BC013349; AAH13349.1; -; mRNA.
DR   IPI; IPI00102660; -.
DR   IPI; IPI00640641; -.
DR   IPI; IPI00654621; -.
DR   RefSeq; NP_001157284.1; NM_001163812.1.
DR   RefSeq; NP_068602.2; NM_021830.4.
DR   UniGene; Hs.22678; -.
DR   ProteinModelPortal; Q96RR1; -.
DR   SMR; Q96RR1; 405-444.
DR   IntAct; Q96RR1; 3.
DR   MINT; MINT-1385725; -.
DR   STRING; Q96RR1; -.
DR   PRIDE; Q96RR1; -.
DR   Ensembl; ENST00000311916; ENSP00000309595; ENSG00000107815.
DR   GeneID; 56652; -.
DR   KEGG; hsa:56652; -.
DR   UCSC; uc001ksf.1; human.
DR   UCSC; uc001ksg.1; human.
DR   CTD; 56652; -.
DR   GeneCards; GC10P096376; -.
DR   H-InvDB; HIX0009132; -.
DR   HGNC; HGNC:1160; C10orf2.
DR   HPA; HPA002532; -.
DR   MIM; 271245; phenotype.
DR   MIM; 606075; gene.
DR   MIM; 607459; phenotype.
DR   MIM; 609286; phenotype.
DR   neXtProt; NX_Q96RR1; -.
DR   Orphanet; 254892; Autosomal dominant progressive external ophthalmoplegia.
DR   Orphanet; 1186; Infantile onset spinocerebellar ataxia.
DR   PharmGKB; PA162377675; -.
DR   eggNOG; prNOG12384; -.
DR   InParanoid; Q96RR1; -.
DR   OMA; SCLRAPS; -.
DR   OrthoDB; EOG434W5N; -.
DR   PhylomeDB; Q96RR1; -.
DR   NextBio; 62113; -.
DR   ArrayExpress; Q96RR1; -.
DR   Bgee; Q96RR1; -.
DR   CleanEx; HS_C10orf2; -.
DR   Genevestigator; Q96RR1; -.
DR   GermOnline; ENSG00000107815; Homo sapiens.
DR   GO; GO:0042645; C:mitochondrial nucleoid; IDA:UniProtKB.
DR   GO; GO:0043139; F:5'-3' DNA helicase activity; IDA:UniProtKB.
DR   GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR   GO; GO:0002020; F:protease binding; IPI:UniProtKB.
DR   GO; GO:0003697; F:single-stranded DNA binding; IDA:UniProtKB.
DR   GO; GO:0008219; P:cell death; IEA:UniProtKB-KW.
DR   GO; GO:0006264; P:mitochondrial DNA replication; IMP:UniProtKB.
DR   GO; GO:0034214; P:protein hexamerization; IDA:UniProtKB.
DR   GO; GO:0051260; P:protein homooligomerization; IDA:UniProtKB.
DR   GO; GO:0006390; P:transcription from mitochondrial promoter; IMP:UniProtKB.
DR   InterPro; IPR014774; Circ_KaiC/RadA.
DR   InterPro; IPR007694; DNA_helicase_DnaB-like_C.
DR   Pfam; PF06745; KaiC; 1.
DR   PROSITE; PS51199; SF4_HELICASE; 1.
DR   HOGENOMDNA; HS10.PE2326; -.
KW   ENSG000001078151755old_1320000031; ENSP000003095957901old_1320000031;
KW   B4DLM7_HUMAN; Q9H6V3_HUMAN; AF292004; AF292005; AK025485; AK297068;
KW   BC013349; BC033762; BX640829; CH471066; EU543650;
KW   Alternative splicing; ATP-binding; Complete proteome;
KW   Disease mutation; DNA replication; Helicase; Hydrolase; Mitochondrion;
KW   Mitochondrion nucleoid; Neurodegeneration; Neuropathy;
KW   Nucleotide-binding; Polymorphism;
KW   Progressive external ophthalmoplegia; Reference proteome;
KW   Transit peptide.
SQ   SEQUENCE   684 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM PVLPVTATEI
     RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF SLFIDKTTGH FLCMTSLAEG
     SWEDFQASVE GRGDGAREGF LLSKAPEFED SEEVRRIWNR AIPLWELPDQ EEVQLADTMF
     GLTKVTDDTL KRFSVRYLRP ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR
     PSAYHNLFGL PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
     FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF NLSRILRTAL
     PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR ILKGHRKGEL TVFTGPTGSG
     KTTFISEYAL DLCSQGVNTL WGSFEISNVR LARVMLTQFA EGRLEDQLDK YDHWADRFED
     LPLYFMTFHG QQSIRTVIDT MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG
     VFRKFATDNN CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK
     RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK KPSSGKKGAT
     TQNSEICSGQ APTPDQPDTS KRSK
//

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