RTL8C_HUMAN
ID RTL8C_HUMAN Reviewed; 113 AA.
AC A6ZKI3;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-AUG-2007, sequence version 1.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Retrotransposon Gag-like protein 8C {ECO:0000312|HGNC:HGNC:2569};
DE AltName: Full=Mammalian retrotransposon derived protein 8C {ECO:0000312|HGNC:HGNC:2569};
GN Name=RTL8C {ECO:0000312|HGNC:HGNC:2569};
GN Synonyms=CXX1 {ECO:0000312|HGNC:HGNC:2569},
GN FAM127A {ECO:0000312|HGNC:HGNC:2569}, MAR8 {ECO:0000312|HGNC:HGNC:2569},
GN MAR8C {ECO:0000312|HGNC:HGNC:2569}, MART8 {ECO:0000312|HGNC:HGNC:2569};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION, AND GENE FAMILY.
RX PubMed=16093683; DOI=10.1159/000084963;
RA Brandt J., Veith A.-M., Volff J.-N.;
RT "A family of neofunctionalized Ty3/gypsy retrotransposon genes in mammalian
RT genomes.";
RL Cytogenet. Genome Res. 110:307-317(2005).
RN [4]
RP IDENTIFICATION.
RX PubMed=15716091; DOI=10.1016/j.gene.2004.11.022;
RA Brandt J., Schrauth S., Veith A.-M., Froschauer A., Haneke T.,
RA Schultheis C., Gessler M., Leimeister C., Volff J.-N.;
RT "Transposable elements as a source of genetic innovation: expression and
RT evolution of a family of retrotransposon-derived neogenes in mammals.";
RL Gene 345:101-111(2005).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- INTERACTION:
CC A6ZKI3; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-10174072, EBI-10171570;
CC A6ZKI3; P42772: CDKN2B; NbExp=3; IntAct=EBI-10174072, EBI-711280;
CC A6ZKI3; O95872: GPANK1; NbExp=3; IntAct=EBI-10174072, EBI-751540;
CC A6ZKI3; P25791-3: LMO2; NbExp=3; IntAct=EBI-10174072, EBI-11959475;
CC A6ZKI3; Q86TG7: PEG10; NbExp=3; IntAct=EBI-10174072, EBI-2858265;
CC A6ZKI3; Q86TG7-2: PEG10; NbExp=10; IntAct=EBI-10174072, EBI-6259410;
CC A6ZKI3; Q04864-2: REL; NbExp=3; IntAct=EBI-10174072, EBI-10829018;
CC A6ZKI3; Q96NU1: SAMD11; NbExp=3; IntAct=EBI-10174072, EBI-14067109;
CC A6ZKI3; Q9UMX0: UBQLN1; NbExp=6; IntAct=EBI-10174072, EBI-741480;
CC A6ZKI3; Q9UMX0-2: UBQLN1; NbExp=3; IntAct=EBI-10174072, EBI-10173939;
CC A6ZKI3; Q9UHD9: UBQLN2; NbExp=5; IntAct=EBI-10174072, EBI-947187;
CC -!- MISCELLANEOUS: RTL8C is one of at least 11 genes called Mar or Mart
CC related to long terminal repeat retrotransposons. They do not
CC correspond to functional retrotransposons, but rather to
CC neofunctionalized retrotransposons genes.
CC {ECO:0000269|PubMed:16093683}.
CC -!- SIMILARITY: Belongs to the FAM127 family. {ECO:0000305}.
CC -!- CAUTION: There seem to be two proteins that can be transcribed from
CC FAM127A, one with a C-terminal CAAX box (AC O15255) and a smaller
CC protein (the sequence shown here) that seems to be encoded by a
CC multicopy gene originating from a retrotransposon. {ECO:0000305}.
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DR EMBL; AL136169; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002385; AAH02385.4; -; mRNA.
DR EMBL; BC002410; AAH02410.4; -; mRNA.
DR CCDS; CCDS43997.1; -.
DR RefSeq; NP_001071639.1; NM_001078171.1.
DR AlphaFoldDB; A6ZKI3; -.
DR SMR; A6ZKI3; -.
DR BioGRID; 114446; 50.
DR IntAct; A6ZKI3; 28.
DR STRING; 9606.ENSP00000257013; -.
DR iPTMnet; A6ZKI3; -.
DR PhosphoSitePlus; A6ZKI3; -.
DR BioMuta; RTL8C; -.
DR EPD; A6ZKI3; -.
DR jPOST; A6ZKI3; -.
DR MassIVE; A6ZKI3; -.
DR MaxQB; A6ZKI3; -.
DR PaxDb; A6ZKI3; -.
DR PeptideAtlas; A6ZKI3; -.
DR PRIDE; A6ZKI3; -.
DR ProteomicsDB; 1787; -.
DR TopDownProteomics; A6ZKI3; -.
DR Antibodypedia; 30334; 109 antibodies from 16 providers.
DR DNASU; 8933; -.
DR Ensembl; ENST00000257013.9; ENSP00000257013.7; ENSG00000134590.14.
DR GeneID; 8933; -.
DR KEGG; hsa:8933; -.
DR MANE-Select; ENST00000257013.9; ENSP00000257013.7; NM_001078171.2; NP_001071639.1.
DR UCSC; uc004eyd.4; human.
DR CTD; 8933; -.
DR DisGeNET; 8933; -.
DR GeneCards; RTL8C; -.
DR HGNC; HGNC:2569; RTL8C.
DR HPA; ENSG00000134590; Low tissue specificity.
DR MIM; 300213; gene.
DR neXtProt; NX_A6ZKI3; -.
DR OpenTargets; ENSG00000134590; -.
DR PharmGKB; PA162385908; -.
DR VEuPathDB; HostDB:ENSG00000134590; -.
DR eggNOG; ENOG502RU23; Eukaryota.
DR GeneTree; ENSGT00940000154665; -.
DR HOGENOM; CLU_154949_0_0_1; -.
DR OMA; LMAWPRR; -.
DR OrthoDB; 1526235at2759; -.
DR PhylomeDB; A6ZKI3; -.
DR TreeFam; TF337843; -.
DR PathwayCommons; A6ZKI3; -.
DR SignaLink; A6ZKI3; -.
DR BioGRID-ORCS; 8933; 14 hits in 698 CRISPR screens.
DR ChiTaRS; RTL8C; human.
DR GeneWiki; FAM127A; -.
DR GenomeRNAi; 8933; -.
DR Pharos; A6ZKI3; Tbio.
DR Proteomes; UP000005640; Chromosome X.
DR Bgee; ENSG00000134590; Expressed in Brodmann (1909) area 10 and 206 other tissues.
DR Genevisible; A6ZKI3; HS.
DR InterPro; IPR032549; DUF4939.
DR InterPro; IPR032567; LDOC1-rel.
DR PANTHER; PTHR15503; PTHR15503; 1.
DR Pfam; PF16297; DUF4939; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..113
FT /note="Retrotransposon Gag-like protein 8C"
FT /id="PRO_0000311726"
FT VARIANT 60
FT /note="S -> N (in dbSNP:rs1056977)"
FT /id="VAR_053975"
SQ SEQUENCE 113 AA; 13171 MW; 104B1C2FB5E362EA CRC64;
MDGRVQLIKA LLALPIRPAT RRWRNPIPFP ETFDGDTDRL PEFIVQTGSY MFVDENTFSS
DALKVTFLIT RLTGPALQWV IPYIKKESPL LNDYRGFLAE MKRVFGWEED EDF
