CQ078_HUMAN
ID CQ078_HUMAN Reviewed; 275 AA.
AC Q8N4C9; Q8N8D2;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Uncharacterized protein C17orf78;
GN Name=C17orf78;
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 2).
RC TISSUE=Small intestine;
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-152.
RC TISSUE=Colon;
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: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N4C9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N4C9-2; Sequence=VSP_027838, VSP_027839;
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DR EMBL; AK096966; BAC04914.1; -; mRNA.
DR EMBL; AC068400; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034672; AAH34672.1; -; mRNA.
DR CCDS; CCDS45655.1; -. [Q8N4C9-1]
DR CCDS; CCDS82110.1; -. [Q8N4C9-2]
DR RefSeq; NP_001308328.1; NM_001321399.1. [Q8N4C9-2]
DR RefSeq; NP_775896.3; NM_173625.4. [Q8N4C9-1]
DR AlphaFoldDB; Q8N4C9; -.
DR BioGRID; 129757; 11.
DR STRING; 9606.ENSP00000478886; -.
DR iPTMnet; Q8N4C9; -.
DR PhosphoSitePlus; Q8N4C9; -.
DR BioMuta; C17orf78; -.
DR DMDM; 296434464; -.
DR PaxDb; Q8N4C9; -.
DR PRIDE; Q8N4C9; -.
DR Antibodypedia; 73298; 83 antibodies from 17 providers.
DR DNASU; 284099; -.
DR Ensembl; ENST00000611038.4; ENSP00000477816.1; ENSG00000278505.5. [Q8N4C9-2]
DR Ensembl; ENST00000615133.2; ENSP00000478886.1; ENSG00000278505.5. [Q8N4C9-1]
DR Ensembl; ENST00000616425.2; ENSP00000484072.1; ENSG00000278145.2. [Q8N4C9-1]
DR Ensembl; ENST00000631822.1; ENSP00000488505.1; ENSG00000278145.2. [Q8N4C9-2]
DR GeneID; 284099; -.
DR KEGG; hsa:284099; -.
DR MANE-Select; ENST00000615133.2; ENSP00000478886.1; NM_173625.5; NP_775896.3.
DR UCSC; uc002hns.3; human. [Q8N4C9-1]
DR CTD; 284099; -.
DR DisGeNET; 284099; -.
DR GeneCards; C17orf78; -.
DR HGNC; HGNC:26831; C17orf78.
DR HPA; ENSG00000278505; Tissue enriched (intestine).
DR neXtProt; NX_Q8N4C9; -.
DR OpenTargets; ENSG00000278505; -.
DR PharmGKB; PA143485402; -.
DR VEuPathDB; HostDB:ENSG00000278505; -.
DR eggNOG; ENOG502SUFK; Eukaryota.
DR GeneTree; ENSGT00390000008122; -.
DR HOGENOM; CLU_1942914_0_0_1; -.
DR InParanoid; Q8N4C9; -.
DR OMA; FIIFEVP; -.
DR OrthoDB; 1246198at2759; -.
DR PhylomeDB; Q8N4C9; -.
DR TreeFam; TF337703; -.
DR PathwayCommons; Q8N4C9; -.
DR BioGRID-ORCS; 284099; 10 hits in 1041 CRISPR screens.
DR GenomeRNAi; 284099; -.
DR Pharos; Q8N4C9; Tdark.
DR PRO; PR:Q8N4C9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N4C9; protein.
DR Bgee; ENSG00000278505; Expressed in duodenum and 21 other tissues.
DR Genevisible; Q8N4C9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR031668; DUF4711.
DR PANTHER; PTHR36870; PTHR36870; 1.
DR Pfam; PF15829; DUF4711; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..275
FT /note="Uncharacterized protein C17orf78"
FT /id="PRO_0000300630"
FT TRANSMEM 187..207
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 148..173
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 234..264
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 148..164
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 240..264
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 131..159
FT /note="AFLPGISQCKVLGASSETFPTTAPSITPG -> VSMPRSQEAVPMPVVVEMA
FT KEGRPATWDS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027838"
FT VAR_SEQ 160..275
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_027839"
FT VARIANT 152
FT /note="T -> S (in dbSNP:rs1714987)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_034877"
SQ SEQUENCE 275 AA; 30555 MW; D39CFF3E8A13A6F8 CRC64;
MDTILVFSLI IASYDANKKD LRDSSCRLEQ LPGIFPKDVR SIRELQMQET HTETKRTTFI
QNRTIATLQC LGSDSKVKVN LVYLERRPKV KHILKNLRII AAPRRNSSAS SSCHLIPTSK
FQTGSLLKGK AFLPGISQCK VLGASSETFP TTAPSITPGN KEGEKTTSTD TDENLEKRQK
WSIVVKILIA VTLLLSGVAI IVFVIFEVPC PYQCLGARKL CQCQWLWRWQ KKGGQPPGTA
ESKPDSQPQK VGQDAANSSN PKKAAEITVI HQTYF
