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   27-MAR-2024, entry version 134.
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; 9606-ENSP00000375267; -.
DR   PeptideAtlas; Q9BWD3; -.
DR   ProteomicsDB; 79269; -.
DR   Pumba; Q9BWD3; -.
DR   TopDownProteomics; Q9BWD3; -.
DR   Antibodypedia; 44892; 64 antibodies from 13 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   AGR; HGNC:24514; -.
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; HQEVETT; -.
DR   OrthoDB; 4727992at2759; -.
DR   PhylomeDB; Q9BWD3; -.
DR   TreeFam; TF337843; -.
DR   PathwayCommons; Q9BWD3; -.
DR   SignaLink; Q9BWD3; -.
DR   BioGRID-ORCS; 26071; 10 hits in 702 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 141 other cell types or tissues.
DR   InterPro; IPR032549; DUF4939.
DR   InterPro; IPR032567; LDOC1-rel.
DR   PANTHER; PTHR15503; LDOC1 RELATED; 1.
DR   PANTHER; PTHR15503:SF30; RETROTRANSPOSON GAG-LIKE PROTEIN 6; 1.
DR   Pfam; PF16297; DUF4939; 1.
DR   Genevisible; Q9BWD3; HS.
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
//