RTL5_HUMAN
ID RTL5_HUMAN Reviewed; 569 AA.
AC Q5HYW3; A7E2W7; Q8NCM4; Q9NPX1;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Retrotransposon Gag-like protein 5 {ECO:0000312|HGNC:HGNC:29430};
DE AltName: Full=Retrotransposon gag domain-containing protein 4 {ECO:0000305};
GN Name=RTL5 {ECO:0000312|HGNC:HGNC:29430};
GN Synonyms=KIAA2001, RGAG4 {ECO:0000305};
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 MRNA].
RC TISSUE=Brain;
RX PubMed=12056414; DOI=10.1093/dnares/9.2.47;
RA Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S.,
RA Takahashi Y., Kitajima S., Saga Y., Koseki H.;
RT "Characterization of size-fractionated cDNA libraries generated by the in
RT vitro recombination-assisted method.";
RL DNA Res. 9:47-57(2002).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 200-569.
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
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).
CC -!- MISCELLANEOUS: RTL5 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 -!- SEQUENCE CAUTION:
CC Sequence=BAC02710.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB082532; BAC02710.1; ALT_INIT; mRNA.
DR EMBL; BX119917; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC151224; AAI51225.1; -; mRNA.
DR EMBL; AL359579; CAB94872.2; -; mRNA.
DR CCDS; CCDS55446.1; -.
DR PIR; T50613; T50613.
DR RefSeq; NP_001019626.1; NM_001024455.3.
DR AlphaFoldDB; Q5HYW3; -.
DR SMR; Q5HYW3; -.
DR BioGRID; 131065; 2.
DR STRING; 9606.ENSP00000476792; -.
DR iPTMnet; Q5HYW3; -.
DR PhosphoSitePlus; Q5HYW3; -.
DR BioMuta; RTL5; -.
DR DMDM; 74741563; -.
DR MassIVE; Q5HYW3; -.
DR PaxDb; Q5HYW3; -.
DR PeptideAtlas; Q5HYW3; -.
DR PRIDE; Q5HYW3; -.
DR ProteomicsDB; 62963; -.
DR Antibodypedia; 51779; 40 antibodies from 8 providers.
DR DNASU; 340526; -.
DR Ensembl; ENST00000479991.1; ENSP00000418667.1; ENSG00000242732.4.
DR Ensembl; ENST00000609883.1; ENSP00000476792.1; ENSG00000242732.4.
DR GeneID; 340526; -.
DR KEGG; hsa:340526; -.
DR UCSC; uc004eaj.3; human.
DR CTD; 340526; -.
DR DisGeNET; 340526; -.
DR GeneCards; RTL5; -.
DR HGNC; HGNC:29430; RTL5.
DR HPA; ENSG00000242732; Tissue enhanced (pituitary).
DR neXtProt; NX_Q5HYW3; -.
DR OpenTargets; ENSG00000242732; -.
DR PharmGKB; PA134992098; -.
DR VEuPathDB; HostDB:ENSG00000242732; -.
DR eggNOG; ENOG502QPW5; Eukaryota.
DR GeneTree; ENSGT00940000163191; -.
DR HOGENOM; CLU_039587_0_0_1; -.
DR InParanoid; Q5HYW3; -.
DR OMA; WPEIEPF; -.
DR OrthoDB; 82879at2759; -.
DR PhylomeDB; Q5HYW3; -.
DR TreeFam; TF337113; -.
DR PathwayCommons; Q5HYW3; -.
DR BioGRID-ORCS; 340526; 9 hits in 693 CRISPR screens.
DR GenomeRNAi; 340526; -.
DR Pharos; Q5HYW3; Tdark.
DR PRO; PR:Q5HYW3; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5HYW3; protein.
DR Bgee; ENSG00000242732; Expressed in right hemisphere of cerebellum and 154 other tissues.
DR Genevisible; Q5HYW3; HS.
DR InterPro; IPR032549; DUF4939.
DR InterPro; IPR032567; LDOC1-rel.
DR PANTHER; PTHR15503; PTHR15503; 1.
DR Pfam; PF16297; DUF4939; 1.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..569
FT /note="Retrotransposon Gag-like protein 5"
FT /id="PRO_0000259629"
FT REGION 115..151
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 323..506
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 117..150
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 364..397
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 446..468
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 474..488
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 420
FT /note="S -> R (in dbSNP:rs6624595)"
FT /id="VAR_051319"
SQ SEQUENCE 569 AA; 64711 MW; EF48B4A215DC99DE CRC64;
MSEASGNLNS LRMANVALRE ELNALRGENA NLGLQLGRAL AEVNSLRGNV SSYIRWPVPI
VPVLAEENLE FALSEIEVIP GGELPFLCRP PPRAEPDCIS DDLLINVIQD RSTPDGPADP
PLLPIPPPPA LPPPASKEPP PQPPLAPLER PEIEPFSGDP VYLAEFLMQL ETFIADHEVH
FPGGAERVAF LISFFTGEAK DWAISVTQEG SPLHANFPRF LDEIRKEFCG PIPPRVAKKA
IRKLKQGHCT LGSYADAFQF LAQFLSWDDC RLQNQFLKGL SEFFRKELLW STEMADLDEL
ILECVEIERK VRVPKPIPLP GVRNIIFPFA PSPNEEESED EEYYSEDEDQ EARRHRLHSK
DQRKRMRAFQ QEMKEKEEEE MKKEEEMKKK EEKEEEEEEE MKQKEEEEEI RNKNEEEGES
KDEEDEDEDG GQKPEGEPQQ DPGTEETYGE VEEEPLDEAQ DDDLDELMEM EPTFVHASSQ
TSGPTSGYHA ENFLGASPPI IQPSRRRNQN RVPLLEGLPG TNSPFYSSPQ LIRRTGRLGQ
RQVRRRPPVL FRLTPRQGGH RAARGRIRV
