CXX1_HUMAN
ID CXX1_HUMAN Reviewed; 209 AA.
AC O15255; Q6IBF1;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 25-MAY-2022, entry version 130.
DE RecName: Full=CAAX box protein 1;
DE AltName: Full=Cerebral protein 5;
DE Flags: Precursor;
GN Name=RTL8C {ECO:0000312|HGNC:HGNC:2569};
GN Synonyms=CXX1, FAM127A, MAR8, MAR8C, MART8; ORFNames=hucep-5;
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 [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=9403077; DOI=10.1006/geno.1997.5006;
RA Frattini A., Faranda S., Zucchi I., Vezzoni P.;
RT "A low-copy repeat in Xq26 represents a novel putatively prenylated protein
RT gene (CXX1) and its pseudogenes (DXS9914, DXS9915, and DXS9916).";
RL Genomics 46:167-169(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RA Yoshimoto M., Yazaki M., Takayama K., Matsumoto K.;
RT "Biological functions of a novel human gene, hucep-5, which is specifically
RT expressed in the central nervous system.";
RL Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RA Yu W., Sarginson J., Gibbs R.A.;
RL Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
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).
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor
CC {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9403077}.
CC -!- CAUTION: There seem to be two proteins encoded by the FAM127A gene, one
CC with a C-terminal CAAX box (the sequence shown here) and a smaller
CC protein (AC A6ZKI3). {ECO:0000305}.
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DR EMBL; Y13374; CAA73804.1; -; mRNA.
DR EMBL; D88756; BAB46920.1; -; mRNA.
DR EMBL; AF038168; AAB97361.1; -; mRNA.
DR EMBL; AF052096; AAC28618.1; -; mRNA.
DR EMBL; CR456853; CAG33134.1; -; mRNA.
DR EMBL; AL136169; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002385; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC002410; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; O15255; -.
DR IntAct; O15255; 2.
DR iPTMnet; O15255; -.
DR BioMuta; RTL8C; -.
DR PRIDE; O15255; -.
DR GeneCards; RTL8C; -.
DR HGNC; HGNC:2569; RTL8C.
DR MIM; 300213; gene.
DR neXtProt; NX_O15255; -.
DR InParanoid; O15255; -.
DR PhylomeDB; O15255; -.
DR PathwayCommons; O15255; -.
DR SignaLink; O15255; -.
DR ChiTaRS; RTL8C; human.
DR Pharos; O15255; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; O15255; protein.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR InterPro; IPR031771; CAAX_1.
DR Pfam; PF15895; CAAX_1; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Lipoprotein; Membrane; Methylation; Prenylation;
KW Reference proteome.
FT CHAIN 1..206
FT /note="CAAX box protein 1"
FT /id="PRO_0000079745"
FT PROPEP 207..209
FT /note="Removed in mature form"
FT /evidence="ECO:0000255"
FT /id="PRO_0000396750"
FT REGION 182..209
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 206
FT /note="Cysteine methyl ester"
FT /evidence="ECO:0000255"
FT LIPID 206
FT /note="S-farnesyl cysteine"
FT /evidence="ECO:0000255"
FT VARIANT 152
FT /note="S -> W (in dbSNP:rs5930670)"
FT /id="VAR_037283"
SQ SEQUENCE 209 AA; 22278 MW; 976E0D2AE93023A8 CRC64;
MGGGRGLLGR ETLGPGGGCS GEGPLCYWPP PGSPPAPSLR ASLPLEPPRC PLRSCSLPRS
ACLCSRNSAP GSCCRPWASL WSEPPPSPSS QPAPPMYIWT LSCAPAASWA PVTHWTDHPL
PPLPSPLLPT RLPDDYIILP TDLRCHSHRH PSHPTDRLLL LVIWTHLGGI WAGHSPWTVI
QTAGRPPRDL SPSARPISSP PPETSCVLA
