CF118_HUMAN
ID CF118_HUMAN Reviewed; 469 AA.
AC Q5T5N4; Q8TC11;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Uncharacterized protein C6orf118;
GN Name=C6orf118;
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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLU-271 AND GLN-385.
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).
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DR EMBL; AL356125; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL117345; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026278; AAH26278.1; -; mRNA.
DR CCDS; CCDS5288.1; -.
DR RefSeq; NP_659417.2; NM_144980.3.
DR AlphaFoldDB; Q5T5N4; -.
DR SMR; Q5T5N4; -.
DR BioGRID; 127954; 10.
DR IntAct; Q5T5N4; 4.
DR STRING; 9606.ENSP00000230301; -.
DR iPTMnet; Q5T5N4; -.
DR PhosphoSitePlus; Q5T5N4; -.
DR BioMuta; C6orf118; -.
DR DMDM; 71152375; -.
DR EPD; Q5T5N4; -.
DR MassIVE; Q5T5N4; -.
DR PaxDb; Q5T5N4; -.
DR PeptideAtlas; Q5T5N4; -.
DR PRIDE; Q5T5N4; -.
DR ProteomicsDB; 64534; -.
DR Antibodypedia; 33511; 18 antibodies from 7 providers.
DR DNASU; 168090; -.
DR Ensembl; ENST00000230301.9; ENSP00000230301.8; ENSG00000112539.15.
DR GeneID; 168090; -.
DR KEGG; hsa:168090; -.
DR MANE-Select; ENST00000230301.9; ENSP00000230301.8; NM_144980.4; NP_659417.2.
DR UCSC; uc003qum.5; human.
DR CTD; 168090; -.
DR GeneCards; C6orf118; -.
DR HGNC; HGNC:21233; C6orf118.
DR HPA; ENSG00000112539; Group enriched (brain, choroid plexus, fallopian tube, testis).
DR neXtProt; NX_Q5T5N4; -.
DR OpenTargets; ENSG00000112539; -.
DR PharmGKB; PA134954942; -.
DR VEuPathDB; HostDB:ENSG00000112539; -.
DR eggNOG; ENOG502RB3J; Eukaryota.
DR GeneTree; ENSGT00390000009877; -.
DR HOGENOM; CLU_040125_0_0_1; -.
DR InParanoid; Q5T5N4; -.
DR OMA; NADRYRM; -.
DR OrthoDB; 1005609at2759; -.
DR PhylomeDB; Q5T5N4; -.
DR TreeFam; TF329261; -.
DR PathwayCommons; Q5T5N4; -.
DR SignaLink; Q5T5N4; -.
DR BioGRID-ORCS; 168090; 9 hits in 1036 CRISPR screens.
DR ChiTaRS; C6orf118; human.
DR GenomeRNAi; 168090; -.
DR Pharos; Q5T5N4; Tdark.
DR PRO; PR:Q5T5N4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5T5N4; protein.
DR Bgee; ENSG00000112539; Expressed in right uterine tube and 91 other tissues.
DR Genevisible; Q5T5N4; HS.
DR InterPro; IPR032755; TSNAXIP1_N.
DR Pfam; PF15739; TSNAXIP1_N; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..469
FT /note="Uncharacterized protein C6orf118"
FT /id="PRO_0000089523"
FT REGION 152..174
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 346..375
FT /evidence="ECO:0000255"
FT COILED 423..453
FT /evidence="ECO:0000255"
FT VARIANT 166
FT /note="R -> L (in dbSNP:rs36007498)"
FT /id="VAR_050807"
FT VARIANT 256
FT /note="I -> M (in dbSNP:rs510579)"
FT /id="VAR_022887"
FT VARIANT 271
FT /note="G -> E (in dbSNP:rs17852379)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_050808"
FT VARIANT 301
FT /note="T -> M (in dbSNP:rs540751)"
FT /id="VAR_050809"
FT VARIANT 363
FT /note="V -> L (in dbSNP:rs9459350)"
FT /id="VAR_022888"
FT VARIANT 385
FT /note="R -> Q (in dbSNP:rs17856754)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_050810"
SQ SEQUENCE 469 AA; 53772 MW; EE38A4E9C3290040 CRC64;
MAEEREPELY LKWKHCETPG VKTLCNLKHC ETPGVKTLCN LKKLLNRLQK DHREDVYLYI
SGHLNPNKLY QPPETILQHW PNAHRPKGER ASEVGEPPAG KVARMKEALA HFTIHTALVP
SEAQDTPLFR YLNPQASLSH TSEEDFLPVE AVREGKEEKK GGPPGRGPPG WRRREELRLP
DLKVLCYQEA GSRGTRDRHH YVSSYLAGAT SADRYRMFLR FQKEVLAKQD LLKNDFTGSK
AAAGHERKLQ QELQKICTCS PQQFNRLHVF GKVFEDICNS SLIFGDLLKK VKDEYELYMA
TLLESQPAAQ YEALLAQLKA LGQRPVKTAD MDLAREELRM LVTATKAALE QNDRLRSELE
MEVALLQSAK ERSESSEKHI IDENRLTLTE KVEKKRCEIL SKWDEIQALE KEIKTTLVHT
GISDITENRI KSIEHEAIQL ETENMILKKK IKGPLEIYQG ICKIRGNRR