2024-03-29 01:10:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018947 5544 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens cytochrome c, somatic (CYCS), mRNA. ACCESSION NM_018947 VERSION NM_018947.5 GI:300863084 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 5544) AUTHORS Sherva R, Tripodis Y, Bennett DA, Chibnik LB, Crane PK, de Jager PL, Farrer LA, Saykin AJ, Shulman JM and Green RC. CONSRTM The GENAROADS Consortium, and The Alzheimer's Disease Neuroimaging Initiative TITLE Genome-wide association study of the rate of cognitive decline in Alzheimer's disease JOURNAL Alzheimers Dement (2013) In press PUBMED 23535033 REMARK Publication Status: Available-Online prior to print REFERENCE 2 (bases 1 to 5544) AUTHORS Li,T., Zeng,L., Gao,W., Cui,M.Z., Fu,X. and Xu,X. TITLE PSAP induces a unique Apaf-1 and Smac-dependent mitochondrial apoptotic pathway independent of Bcl-2 family proteins JOURNAL Biochim. Biophys. Acta 1832 (3), 453-474 (2013) PUBMED 23207240 REMARK GeneRIF: Data indicate that the formation of cytochrome c-Apaf-1 apoptosome and the presence of Smac are absolutely required for PSAP-induced apoptosis. REFERENCE 3 (bases 1 to 5544) AUTHORS San Francisco,B., Bretsnyder,E.C. and Kranz,R.G. TITLE Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (9), E788-E797 (2013) PUBMED 23150584 REMARK GeneRIF: Spectroscopic analyses of HCCS alone and complexes of HCCS with site-directed variants of cytochrome c revealed the fundamental steps of heme attachment and maturation. REFERENCE 4 (bases 1 to 5544) AUTHORS Simon,M., Metzinger-Le Meuth,V., Chevance,S., Delalande,O. and Bondon,A. TITLE Versatility of non-native forms of human cytochrome c: pH and micellar concentration dependence JOURNAL J. Biol. Inorg. Chem. 18 (1), 27-38 (2013) PUBMED 23070294 REMARK GeneRIF: structural characterization of cytochrome c in micelle REFERENCE 5 (bases 1 to 5544) AUTHORS Zhang,Z. and Gerstein,M. TITLE The human genome has 49 cytochrome c pseudogenes, including a relic of a primordial gene that still functions in mouse JOURNAL Gene 312, 61-72 (2003) PUBMED 12909341 REFERENCE 6 (bases 1 to 5544) AUTHORS Lynch,S.R., Sherman,D. and Copeland,R.A. TITLE Cytochrome c binding affects the conformation of cytochrome a in cytochrome c oxidase JOURNAL J. Biol. Chem. 267 (1), 298-302 (1992) PUBMED 1309738 REFERENCE 7 (bases 1 to 5544) AUTHORS Garber,E.A. and Margoliash,E. TITLE Interaction of cytochrome c with cytochrome c oxidase: an understanding of the high- to low-affinity transition JOURNAL Biochim. Biophys. Acta 1015 (2), 279-287 (1990) PUBMED 2153405 REFERENCE 8 (bases 1 to 5544) AUTHORS Evans,M.J. and Scarpulla,R.C. TITLE The human somatic cytochrome c gene: two classes of processed pseudogenes demarcate a period of rapid molecular evolution JOURNAL Proc. Natl. Acad. Sci. U.S.A. 85 (24), 9625-9629 (1988) PUBMED 2849112 REFERENCE 9 (bases 1 to 5544) AUTHORS Bedetti,C.D. TITLE Immunocytochemical demonstration of cytochrome c oxidase with an immunoperoxidase method: a specific stain for mitochondria in formalin-fixed and paraffin-embedded human tissues JOURNAL J. Histochem. Cytochem. 33 (5), 446-452 (1985) PUBMED 2580882 REFERENCE 10 (bases 1 to 5544) AUTHORS Ng,S., Smith,M.B., Smith,H.T. and Millett,F. TITLE Effect of modification of individual cytochrome c lysines on the reaction with cytochrome b5 JOURNAL Biochemistry 16 (23), 4975-4978 (1977) PUBMED 199233 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC004129.2, DB447825.1, BC024216.1, AC007487.2 and AI365318.1. This sequence is a reference standard in the RefSeqGene project. On Jul 20, 2010 this sequence version replaced gi:34328939. Summary: This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DB447825.1, AL713681.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-3 AC004129.2 493-495 c 4-190 DB447825.1 4-190 191-1363 BC024216.1 133-1305 1364-5445 AC007487.2 16857-20938 c 5446-5544 AI365318.1 1-99 c FEATURES Location/Qualifiers source 1..5544 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15.3" gene 1..5544 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /note="cytochrome c, somatic" /db_xref="GeneID:54205" /db_xref="HGNC:19986" /db_xref="HPRD:00479" /db_xref="MIM:123970" exon 1..162 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /inference="alignment:Splign:1.39.8" exon 163..339 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /inference="alignment:Splign:1.39.8" variation 165 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="g" /replace="t" /db_xref="dbSNP:11267038" CDS 171..488 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /codon_start=1 /product="cytochrome c" /protein_id="NP_061820.1" /db_xref="GI:11128019" /db_xref="CCDS:CCDS5393.1" /db_xref="GeneID:54205" /db_xref="HGNC:19986" /db_xref="HPRD:00479" /db_xref="MIM:123970" /translation="
MGDVEKGKKIFIMKCSQCHTVEKGGKHKTGPNLHGLFGRKTGQAPGYSYTAANKNKGIIWGEDTLMEYLENPKKYIPGTKMIFVGIKKKEERADLIAYLKKATNE
" misc_feature 174..485 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /note="Cytochrome c; Region: Cytochrom_C; cl11414" /db_xref="CDD:214175" misc_feature <174..470 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /note="Cytochrome c, mono- and diheme variants [Energy production and conversion]; Region: CccA; COG2010" /db_xref="CDD:32193" misc_feature 174..176 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /experiment="experimental evidence, no additional details recorded" /note="N-acetylglycine; propagated from UniProtKB/Swiss-Prot (P99999.2); acetylation site" variation 261 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="c" /replace="t" /db_xref="dbSNP:11548796" variation 263 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:11548779" variation 274 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:11548805" variation 285 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="c" /replace="t" /db_xref="dbSNP:11548791" variation 290 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="g" /replace="t" /db_xref="dbSNP:11548812" variation 300 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:11548807" variation 312 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="c" /replace="t" /db_xref="dbSNP:11548783" variation 337 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:11548795" exon 340..5538 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /inference="alignment:Splign:1.39.8" variation 412 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="c" /replace="t" /db_xref="dbSNP:11548778" variation 433 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:11548785" variation 455 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:3211448" STS 607..784 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="SHGC-60475" /db_xref="UniSTS:82647" STS 911..1260 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="D1S3438" /db_xref="UniSTS:28510" polyA_signal 1338..1343 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" polyA_site 1363 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" STS 2499..3171 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="GDB:434012" /db_xref="UniSTS:157204" STS 2499..2752 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="GDB:434012" /db_xref="UniSTS:157204" STS 2500..3846 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="GDB:631813" /db_xref="UniSTS:158430" STS 2507..3132 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="GDB:314949" /db_xref="UniSTS:156503" STS 2510..3156 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="L17709" /db_xref="UniSTS:42599" STS 2849..3842 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="RH79802" /db_xref="UniSTS:88688" STS 3304..3846 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /standard_name="GDB:631813" /db_xref="UniSTS:158430" variation 3804 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1060388" variation 3822 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1060389" STS 3824..3955 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /db_xref="UniSTS:9484" variation 3830..3831 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1137505" variation 3876 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1137509" variation 3936 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1137510" variation 3943 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1137511" variation 3998 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1137512" variation 4001 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="g" /db_xref="dbSNP:1137513" variation 5445 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" /replace="a" /replace="c" /db_xref="dbSNP:3173604" polyA_signal 5512..5517 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" polyA_site 5538 /gene="CYCS" /gene_synonym="CYC; HCS; THC4" ORIGIN
gtagccgccagctcggccgcacgtcagggcgcgggagcgcggagcgagtttggttgcacttacaccggtacttaagcgcggaccggcgtgtccttggacttagagagtggggacgtccggcttcggagcgggagtgttcgttgtgccagcgactaaaaagagaattaaatatgggtgatgttgagaaaggcaagaagatttttattatgaagtgttcccagtgccacaccgttgaaaagggaggcaagcacaagactgggccaaatctccatggtctctttgggcggaagacaggtcaggcccctggatactcttacacagccgccaataagaacaaaggcatcatctggggagaggatacactgatggagtatttggagaatcccaagaagtacatccctggaacaaaaatgatctttgtcggcattaagaagaaggaagaaagggcagacttaatagcttatctcaaaaaagctactaatgagtaataattggccactgccttatttattacaaaacagaaatgtctcatgacttttttatgtgtaccatcctttaatagatctcatacaccagaattcagatcatgaatgactgacagaatattttgttgggcagtcctgatttaaaactaagactggcttgtggttaaatgaatatgttcagtttttgaattttaatagtaactccaattcagtaaatggtatcactgtttaccccttttaaagatatgattagacttcgttagtaatgttcaacttttcacaaagatggtgagtgccatcttaaaacttactggagattggttttatatttagatttatataactggttatgtgaatatatttaaatactggggaaattgcttcactgtcttagaaccaagcaagattcacctgtgttttgtgttcatgttcatttgcctcttaaaggcaagggttgaagataaataaggtagcaatgtctatagttttggccttaactatgccaatctaattataattccctgtatttaaaatggtttcttttacttattgaaaggcattttagtgtggtttatgtgtaatattaaagattattcaacacctctcacatcttacagatctataaggtcacatgcttttaaaatagtagcaagttaaacttcactcttgaattctttacaatctaagtcaaactaagttataatttaggattgtctttaaacagccattcagaaacaaaactgtagaactgtgtatttgattgggaatggtgcttttgccaacttaaaaggattaaagtaacggagatatacacaaattttaaaattatgtgtgatcacaagactaaagataattaaaaagaaaaccacagatcatgactttttgactgtgcttgatttcatgactgatgcacaaattttaatgattaaaaagtgcaggagccctaaatgtcagtgcagcagccctaaatgtcagtgcagcagtgttaaccagtcatggtgctagattgtttacttggttttctaggactgcctcaactagaataacacttcactaattgactcttagtttctttgctcagattgagaactgcagcatttatgccagacatggacagaggaatgcctgtggtcatagttttgtgatgtgtaacagtgtataattacatactgaattatttcatgcatagtctgtgccatacacatttagagtagtccttggagattttatggagatggtgagcacaaggtaagtcataaagaataatgagaaaataaatctatgctggtgcagctgagaactgtatctttgtgggacagtgagaagactgagaagatgtgaatccatggtctcaaaggtgatagggacgattagataggtgttttaaggcctgaaagcaatttataacatatgagtcttatttttatttatagaaatgtggaaagcttgctgtaattcatatttgaagtcctagtctgagttctggtggggaatttaaaaatgcatcctggaaatcctttaaagatttcagactttgaaaggccttgtagcagaggacttggtgactgtataaagttagtggtattcagggacagtgtagcaagtagcttacaaggggacaattctggactaatgagaaagacctgaagtgaaggctagagagttgattttttttttttttggcatcctggaaatgatacaggaaacatattaagatagatacagaaatgtgttcaaccttccatcttggctagttgtggcgtttagtttgttttttgagacatggtcacgctgtgtcgccaaggctggagtgcagtggtgcgatctcggctggctgcaacctctatttcccaggctcaagcgattctctcacttcagcttcccaagtagctgggactacaggtgttcgccaccatgcccagctaatttttttgtagagatggagttttgccatgtggtcccaggctggtctcaaactcctgagctcaagcaatccgtccacttgccttggctccccaaagtgctgggattacaggcgtgagccaccaggccctgcctggttttcaaattcagaaatcttattatttaacccagaagtaatcagcccagtagtaacttaggtttaattttttttcaggtttaaaatttttctcatttattttttctgagacggagtttcgcccttttcgcccaggctgagtacagtggtgcaatctcactgcaacctccgccttccagttgcaagtgattctcctgcctcagcctcctgagtagctgggattacaggcacccgccaccacgcctggctaatttttgtatttttagtggagatggtgtttcaccatgttggccagactggtcttggactcctgacctcgtgatccacccaccttggcctcccaaagttctaggattacaggtgtgagccaccacgtccggccaatttttctcatttctatgcctcctatattaaggtctgtgttggcacagatgagtaactgccatgttctaggtcagttatacccaagcacttctggtggtttaaaatgtgattctgtaacttttttatttttatttttttgagataatttcactcttgttgcccaggctggagtgcaatggcgtgatcgctgctcaccgcaacctccgccttccaggttcaagcgattctcctgactcagcctctcaagtagctgggattacaagcatgcgccaccatgcccagcttattttgtgtttttagtagagacagggtttctccatgctggacaggctggtcttgaactcccgacgtcaggtgatctacctgcctcggcctcccaaagtgctgggattacaggcgtgagccaccacgcctggccaattatgtaattttttaaaaaggacatttctatcagggatatataccttcagaaataaggaaataggggaaaaaaagagcactataaaccacatgttttcatttctagtgcttcgctgtaagtggctaggttggtagaatcaaaaacaagggccagatgtatttaaggggtattcagatgccacctacatgcttattttgtctagaacagtgctgtctaatagaactttctgtgacgatggatattttgtagacttttgctgtccagtgtggtagccactaaccacatgtggctgttaagcccttgaaatatagctagtgtgactagaaagtattttattttaaatttacataggcacaagtggctagtggctactgtattgacattctgggtctaggactagaaccagtggtctgtaacaaaagtactttctctttactctattaaatctagaattagccgggcatggtcgctcatgcctgtaatcccagcactttgggaggccaaggcaggcagatcacttgaggtcaggcgtttgagaccagcctggtcaacatggcgaaaccctgtctctacaaaaaacataaaaattagccaggtgtggtggtgggcacctgtaatctcagctacttgggaggctgaggcacaagaatcacttgaacttgggaggtggaggttgcagtgagccaagattgtgccactgcactcaagcctgggtgacgagtgaaactgtctccaaaaaaaaaaaaaaatctagaattcttggaagtacattatattgcccttcagaatagattccagttcctgttgtgctcacctttataattttaccataagttttacctattcgtaagttggcagttttagatagataacattctggtggtagctagggatttaccttttgtcatccttttcctgcacttctcttgaattcctttatagatgtacagttttgctttaaccactgaagattgctgtaaattataaagggtgtgatagaatccacatggctgtcaagaaggagatcttaccaaggacagttgactgactagtctcagattgtttcatatcatttatacttgggtaagagtaaactagataactgggcgtcgtggtgcacacctgtagtcccagccactctgaggcaggaggactgcttgtgcccagaagttcgaggctgcagtgtagctgtgattgtgctactgcactccagcctgggcaacagataaaggaaactccatctcttttaaaaaaaaaaaaagtggtctgggtgcagtaggtcatgcctgcaatcccagcactttgggaggccaaggcaggcagatcacctgaggtcaggagcttgagaccagcctggccaacatggtgaaaccccatctctaccaaaaatataaaaactagctgggcgtggtggcggcacctgtaattgcagctatttgagaggctgaggcaggagaatcgcttgaacctgggagatgggggttgcagtgagccaagaccgccccatcgcactccagcctgggcaacaatagtgaaactccgtctcaaaaagaaaaaaagtttccttagaatggaaaatattcattcatgagctcttttggcaatccgtcatcagtatattctgaaaaccaataagatgttgccaagttgggggcgagagctatgtaatgcaaggcatatgcctgatgaagtatacaaatacacctgaccagaaactttgtctcccacataagtctcttctaggcactgtcggggtacatactgagctgctgctttggctgtattttctgtgcctcagaataaccattgtcctggtgttcatatccttagagttcagtacaaaatgttggatatccatttaataggttccaggttatcttagttggagtttggggtatttgaaaacgtcatgccttcaggctatcatttccctcagaaagctaagtaaatttactgcattcatttctcaaagagtaaaagtgcaggttgtatgtgtctatgaacatttaaacatgttaaaatgttaaatttaacattttaaatttaaacatttaaatatgtctgtaacttgaacagtgtagtttcagaaaggaccactgggctagtgtaatgcagaaaatgctgggtctaggattaggagaaaattgtgtttagtgtgtatcaataaacagcccgtggacccaatctgaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:54205 -> Molecular function: GO:0004722 [protein serine/threonine phosphatase activity] evidence: TAS GeneID:54205 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA GeneID:54205 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:54205 -> Molecular function: GO:0020037 [heme binding] evidence: TAS GeneID:54205 -> Molecular function: GO:0045155 [electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity] evidence: IDA GeneID:54205 -> Biological process: GO:0006309 [apoptotic DNA fragmentation] evidence: IMP GeneID:54205 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:54205 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: TAS GeneID:54205 -> Biological process: GO:0022904 [respiratory electron transport chain] evidence: TAS GeneID:54205 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS GeneID:54205 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:54205 -> Biological process: GO:0045333 [cellular respiration] evidence: TAS GeneID:54205 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:54205 -> Cellular component: GO:0000159 [protein phosphatase type 2A complex] evidence: TAS GeneID:54205 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:54205 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS GeneID:54205 -> Cellular component: GO:0005758 [mitochondrial intermembrane space] evidence: TAS GeneID:54205 -> Cellular component: GO:0005829 [cytosol] evidence: IMP GeneID:54205 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:54205 -> Cellular component: GO:0070469 [respiratory chain] evidence: IEA
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