CA127_HUMAN
ID CA127_HUMAN Reviewed; 656 AA.
AC Q8N9H9; A0AVG8; A6NKM7; Q5VXJ2;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 2.
DT 25-MAY-2022, entry version 109.
DE RecName: Full=Uncharacterized protein C1orf127;
GN Name=C1orf127;
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] (ISOFORM 1).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9H9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9H9-2; Sequence=VSP_024543, VSP_024544;
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DR EMBL; AK094437; BAC04355.1; -; mRNA.
DR EMBL; AL358492; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC126349; AAI26350.1; -; mRNA.
DR AlphaFoldDB; Q8N9H9; -.
DR IntAct; Q8N9H9; 3.
DR STRING; 9606.ENSP00000366203; -.
DR iPTMnet; Q8N9H9; -.
DR PhosphoSitePlus; Q8N9H9; -.
DR BioMuta; C1orf127; -.
DR DMDM; 145558873; -.
DR MassIVE; Q8N9H9; -.
DR PaxDb; Q8N9H9; -.
DR PeptideAtlas; Q8N9H9; -.
DR PRIDE; Q8N9H9; -.
DR GeneCards; C1orf127; -.
DR HGNC; HGNC:26730; C1orf127.
DR MIM; 619700; gene.
DR neXtProt; NX_Q8N9H9; -.
DR eggNOG; ENOG502S0MU; Eukaryota.
DR InParanoid; Q8N9H9; -.
DR PhylomeDB; Q8N9H9; -.
DR PathwayCommons; Q8N9H9; -.
DR SignaLink; Q8N9H9; -.
DR Pharos; Q8N9H9; Tdark.
DR PRO; PR:Q8N9H9; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8N9H9; protein.
DR GO; GO:0007507; P:heart development; IBA:GO_Central.
DR InterPro; IPR027956; DUF4556.
DR PANTHER; PTHR38653; PTHR38653; 1.
DR Pfam; PF15094; DUF4556; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..656
FT /note="Uncharacterized protein C1orf127"
FT /id="PRO_0000284492"
FT REGION 206..242
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 269..422
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 434..520
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 632..656
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 216..230
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 299..316
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 497..511
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 84..92
FT /note="SGGQQALPG -> LNTSAELLPLWLVSGHHAYSLEAACPP (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024543"
FT VAR_SEQ 238..263
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024544"
FT VARIANT 256
FT /note="R -> Q (in dbSNP:rs1281012)"
FT /id="VAR_056766"
FT VARIANT 366
FT /note="V -> D (in dbSNP:rs1281016)"
FT /id="VAR_056767"
FT VARIANT 530
FT /note="A -> V (in dbSNP:rs1281018)"
FT /id="VAR_031750"
FT CONFLICT 127
FT /note="F -> L (in Ref. 1; BAC04355)"
FT /evidence="ECO:0000305"
FT CONFLICT 205
FT /note="S -> P (in Ref. 1; BAC04355)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 656 AA; 69787 MW; 3C2BB4E265669023 CRC64;
MKCPMLRSRL GQESVHCGPM FIQVSRPLPL WRDNRQTPWL LSLRGELVAS LEDASLMGLY
VDMNATTVTV QSPRQGLLQR WEVSGGQQAL PGVSFQPESE VLVHIPKQRL GLVKRGSYIE
ETLSLRFLRV HQSNIFMVTE NKDFVVVSIP AAGVLQVQRC QEVGGTPGTQ AFYRVDLSLE
FAEMAAPVLW TVESFFQCVG SGTESPASTA ALRTTPSPPS PGPETPPAGV PPAASSQVWA
AGPAAQEWLS RDLLHRPSDA LAKKGLGPFL QTAKPARRGQ TSASILPRVV QAQRGPQPPP
GEAGIPGHPT PPATLPSEPV EGVQASPWRP RPVLPTHPAL TLPVSSDASS PSPPAPRPER
PESLLVSGPS VTLTEGLGTV RPEQDPAKSP GSPLLLRGLS SGDVAAPEPI MGEPGQASEE
FQPLARPWRA TLAAEELVSH RSPGEPQETC SGTEVERPRQ TGPGLPREGA RGHMDLSSSE
PSQDIEGPGL SILPARDATF STPSVRQPDP SAWLSSGPEL TGMPRVRLAA PLAVLPMEPL
PPEPVRPAAL LTPEASSVGG PDQARYLESA PGWPVGQEEW GVAHTSSPPS TQTLSLWAPT
GVLLPSLVEL EYPFQAGRGA SLQQELTEPT LALSAESHRP PELQDSVEGL SERPSR
