RTL8A_HUMAN
ID RTL8A_HUMAN Reviewed; 113 AA.
AC Q9BWD3; A2A2V9; Q8TBU2;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 3.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Retrotransposon Gag-like protein 8A {ECO:0000312|HGNC:HGNC:24514};
DE AltName: Full=Mammalian retrotransposon derived protein 8A;
GN Name=RTL8A {ECO:0000312|HGNC:HGNC:24514};
GN Synonyms=CXX1B, FAM127B {ECO:0000305}, MAR8A;
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], AND VARIANT CYS-48.
RC TISSUE=Lung;
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 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 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 Q9BWD3; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-741643, EBI-10171570;
CC Q9BWD3; Q86TG7-2: PEG10; NbExp=8; IntAct=EBI-741643, EBI-6259410;
CC Q9BWD3; Q9UMX0: UBQLN1; NbExp=4; IntAct=EBI-741643, EBI-741480;
CC Q9BWD3; Q9UMX0-2: UBQLN1; NbExp=3; IntAct=EBI-741643, EBI-10173939;
CC Q9BWD3; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-741643, EBI-947187;
CC -!- MISCELLANEOUS: RTL8A 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}.
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DR EMBL; AL136169; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000393; AAH00393.2; -; mRNA.
DR EMBL; BC019300; AAH19300.1; -; mRNA.
DR CCDS; CCDS43998.1; -.
DR RefSeq; NP_001071640.1; NM_001078172.1.
DR RefSeq; NP_001127793.1; NM_001134321.1.
DR AlphaFoldDB; Q9BWD3; -.
DR SMR; Q9BWD3; -.
DR BioGRID; 117530; 7.
DR IntAct; Q9BWD3; 4.
DR STRING; 9606.ENSP00000375267; -.
DR iPTMnet; Q9BWD3; -.
DR PhosphoSitePlus; Q9BWD3; -.
DR BioMuta; RTL8A; -.
DR EPD; Q9BWD3; -.
DR jPOST; Q9BWD3; -.
DR MassIVE; Q9BWD3; -.
DR MaxQB; Q9BWD3; -.
DR PaxDb; Q9BWD3; -.
DR PeptideAtlas; Q9BWD3; -.
DR PRIDE; Q9BWD3; -.
DR ProteomicsDB; 79269; -.
DR TopDownProteomics; Q9BWD3; -.
DR Antibodypedia; 44892; 56 antibodies from 12 providers.
DR DNASU; 26071; -.
DR Ensembl; ENST00000370775.3; ENSP00000375267.1; ENSG00000203950.7.
DR GeneID; 26071; -.
DR KEGG; hsa:26071; -.
DR MANE-Select; ENST00000370775.3; ENSP00000375267.1; NM_001078172.2; NP_001071640.1.
DR UCSC; uc004eyf.4; human.
DR CTD; 26071; -.
DR GeneCards; RTL8A; -.
DR HGNC; HGNC:24514; RTL8A.
DR HPA; ENSG00000203950; Low tissue specificity.
DR neXtProt; NX_Q9BWD3; -.
DR OpenTargets; ENSG00000203950; -.
DR PharmGKB; PA162385915; -.
DR VEuPathDB; HostDB:ENSG00000203950; -.
DR eggNOG; ENOG502RU23; Eukaryota.
DR GeneTree; ENSGT00940000154665; -.
DR HOGENOM; CLU_154949_0_0_1; -.
DR InParanoid; Q9BWD3; -.
DR OMA; TEEHRWR; -.
DR OrthoDB; 1526235at2759; -.
DR PhylomeDB; Q9BWD3; -.
DR TreeFam; TF337843; -.
DR PathwayCommons; Q9BWD3; -.
DR SignaLink; Q9BWD3; -.
DR BioGRID-ORCS; 26071; 8 hits in 635 CRISPR screens.
DR ChiTaRS; FAM127B; human.
DR GenomeRNAi; 26071; -.
DR Pharos; Q9BWD3; Tdark.
DR PRO; PR:Q9BWD3; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9BWD3; protein.
DR Bgee; ENSG00000203950; Expressed in ganglionic eminence and 139 other tissues.
DR Genevisible; Q9BWD3; HS.
DR GO; GO:0005730; C:nucleolus; IBA:GO_Central.
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 8A"
FT /id="PRO_0000311693"
FT VARIANT 48
FT /note="S -> C (in dbSNP:rs2498776)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_060162"
SQ SEQUENCE 113 AA; 13188 MW; 65227B6D28946B9F CRC64;
MDGRVQLMKA LLAGPLRPAA RRWRNPIPFP ETFDGDTDRL PEFIVQTSSY MFVDENTFSN
DALKVTFLIT RLTGPALQWV IPYIRKESPL LNDYRGFLAE MKRVFGWEED EDF
