CQ080_HUMAN
ID CQ080_HUMAN Reviewed; 609 AA.
AC Q9BSJ5; A8K9X3; Q5JB45; Q6YAU3; Q9H0L9; Q9H5E6; Q9NWN5;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Uncharacterized protein C17orf80;
DE AltName: Full=Cell migration-inducing gene 3 protein;
DE AltName: Full=Human lung cancer oncogene 8 protein;
DE Short=HLC-8;
GN Name=C17orf80; ORFNames=HLC8, MIG3;
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), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1), AND VARIANTS LEU-356; ASN-395;
RP ARG-396; HIS-420 AND THR-522.
RA Kim J.W.;
RT "Identification of a new human cancer-related gene (HLC-8).";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ASN-395.
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANTS
RP ASN-395; HIS-420 AND THR-522.
RC TISSUE=Lung, and Trachea;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-395.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ASN-395.
RC TISSUE=Kidney;
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 -!- INTERACTION:
CC Q9BSJ5; P21333-2: FLNA; NbExp=3; IntAct=EBI-2872520, EBI-9641086;
CC Q9BSJ5; Q9HB07: MYG1; NbExp=3; IntAct=EBI-2872520, EBI-709754;
CC Q9BSJ5; Q8N2W9: PIAS4; NbExp=3; IntAct=EBI-2872520, EBI-473160;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BSJ5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSJ5-2; Sequence=VSP_024572;
CC Name=3;
CC IsoId=Q9BSJ5-3; Sequence=VSP_024573, VSP_024574;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP72185.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91344.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB15680.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY163812; AAO25513.1; -; mRNA.
DR EMBL; AY239293; AAP72185.1; ALT_INIT; mRNA.
DR EMBL; AL136740; CAB66674.1; -; mRNA.
DR EMBL; AK000728; BAA91344.1; ALT_FRAME; mRNA.
DR EMBL; AK027166; BAB15680.1; ALT_INIT; mRNA.
DR EMBL; AK292838; BAF85527.1; -; mRNA.
DR EMBL; AC087301; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC097641; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471099; EAW89118.1; -; Genomic_DNA.
DR EMBL; BC005005; AAH05005.1; -; mRNA.
DR CCDS; CCDS11694.1; -. [Q9BSJ5-1]
DR CCDS; CCDS42377.1; -. [Q9BSJ5-2]
DR CCDS; CCDS45767.1; -. [Q9BSJ5-3]
DR RefSeq; NP_001094091.1; NM_001100621.2. [Q9BSJ5-2]
DR RefSeq; NP_001275699.1; NM_001288770.1. [Q9BSJ5-2]
DR RefSeq; NP_060411.2; NM_017941.5. [Q9BSJ5-1]
DR RefSeq; XP_005257544.1; XM_005257487.3.
DR RefSeq; XP_011523263.1; XM_011524961.1. [Q9BSJ5-1]
DR RefSeq; XP_011523264.1; XM_011524962.2. [Q9BSJ5-1]
DR RefSeq; XP_016880295.1; XM_017024806.1.
DR AlphaFoldDB; Q9BSJ5; -.
DR BioGRID; 120358; 254.
DR IntAct; Q9BSJ5; 34.
DR MINT; Q9BSJ5; -.
DR STRING; 9606.ENSP00000351937; -.
DR iPTMnet; Q9BSJ5; -.
DR MetOSite; Q9BSJ5; -.
DR PhosphoSitePlus; Q9BSJ5; -.
DR BioMuta; C17orf80; -.
DR DMDM; 317373351; -.
DR EPD; Q9BSJ5; -.
DR jPOST; Q9BSJ5; -.
DR MassIVE; Q9BSJ5; -.
DR MaxQB; Q9BSJ5; -.
DR PaxDb; Q9BSJ5; -.
DR PeptideAtlas; Q9BSJ5; -.
DR PRIDE; Q9BSJ5; -.
DR ProteomicsDB; 78901; -. [Q9BSJ5-1]
DR ProteomicsDB; 78902; -. [Q9BSJ5-2]
DR ProteomicsDB; 78903; -. [Q9BSJ5-3]
DR Antibodypedia; 2478; 79 antibodies from 18 providers.
DR DNASU; 55028; -.
DR Ensembl; ENST00000268942.12; ENSP00000268942.8; ENSG00000141219.16. [Q9BSJ5-2]
DR Ensembl; ENST00000359042.6; ENSP00000351937.2; ENSG00000141219.16. [Q9BSJ5-1]
DR Ensembl; ENST00000426147.6; ENSP00000396970.2; ENSG00000141219.16. [Q9BSJ5-3]
DR Ensembl; ENST00000535032.7; ENSP00000440551.2; ENSG00000141219.16. [Q9BSJ5-1]
DR Ensembl; ENST00000577615.5; ENSP00000464132.1; ENSG00000141219.16. [Q9BSJ5-2]
DR GeneID; 55028; -.
DR KEGG; hsa:55028; -.
DR MANE-Select; ENST00000535032.7; ENSP00000440551.2; NM_001351264.2; NP_001338193.2.
DR UCSC; uc002jjk.3; human. [Q9BSJ5-1]
DR CTD; 55028; -.
DR DisGeNET; 55028; -.
DR GeneCards; C17orf80; -.
DR HGNC; HGNC:29601; C17orf80.
DR HPA; ENSG00000141219; Low tissue specificity.
DR neXtProt; NX_Q9BSJ5; -.
DR OpenTargets; ENSG00000141219; -.
DR PharmGKB; PA143485404; -.
DR VEuPathDB; HostDB:ENSG00000141219; -.
DR eggNOG; KOG4092; Eukaryota.
DR GeneTree; ENSGT00510000049019; -.
DR HOGENOM; CLU_037702_0_0_1; -.
DR InParanoid; Q9BSJ5; -.
DR OMA; LYPNYQR; -.
DR OrthoDB; 1133806at2759; -.
DR PhylomeDB; Q9BSJ5; -.
DR TreeFam; TF324369; -.
DR PathwayCommons; Q9BSJ5; -.
DR SignaLink; Q9BSJ5; -.
DR BioGRID-ORCS; 55028; 20 hits in 1064 CRISPR screens.
DR ChiTaRS; C17orf80; human.
DR GenomeRNAi; 55028; -.
DR Pharos; Q9BSJ5; Tbio.
DR PRO; PR:Q9BSJ5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BSJ5; protein.
DR Bgee; ENSG00000141219; Expressed in sperm and 171 other tissues.
DR ExpressionAtlas; Q9BSJ5; baseline and differential.
DR Genevisible; Q9BSJ5; HS.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR037694; C17orf80.
DR PANTHER; PTHR16270; PTHR16270; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..609
FT /note="Uncharacterized protein C17orf80"
FT /id="PRO_0000284612"
FT TOPO_DOM 1..552
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 553..573
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 574..609
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 142..168
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 183..202
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 410..441
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 412..441
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 505..540
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:14702039, ECO:0000303|Ref.1"
FT /id="VSP_024572"
FT VAR_SEQ 578..583
FT /note="KLCRPL -> LQRWRK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024573"
FT VAR_SEQ 584..609
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024574"
FT VARIANT 226
FT /note="G -> S (in dbSNP:rs9902726)"
FT /id="VAR_031779"
FT VARIANT 322
FT /note="K -> Q (in dbSNP:rs34784472)"
FT /id="VAR_031780"
FT VARIANT 356
FT /note="F -> L (in dbSNP:rs745143)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_031781"
FT VARIANT 395
FT /note="H -> N (in dbSNP:rs904384)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.1, ECO:0000269|Ref.5"
FT /id="VAR_031782"
FT VARIANT 396
FT /note="C -> R (in dbSNP:rs904383)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_031783"
FT VARIANT 420
FT /note="Q -> H (in dbSNP:rs745142)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1"
FT /id="VAR_031784"
FT VARIANT 522
FT /note="A -> T (in dbSNP:rs1566286)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1"
FT /id="VAR_031785"
FT CONFLICT 33
FT /note="P -> S (in Ref. 2; CAB66674)"
FT /evidence="ECO:0000305"
FT CONFLICT 484
FT /note="C -> R (in Ref. 4; BAB15680)"
FT /evidence="ECO:0000305"
FT CONFLICT 536
FT /note="G -> R (in Ref. 4; BAA91344)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 609 AA; 67315 MW; 2579A2A739C10A43 CRC64;
MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP RAKKMKGPIK
DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL ERAATTKADK DIKNPIQPSF
KMLKNTKPMT TFQEETKAQF YASEKTSPKR ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP
SLSNQDRKYS STLPNDVQTT SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK
RVRTLLSNER DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL
TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER PHLSLFIPRE
TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV KALMESPEGQ LSLEPKSDSQ
FQASHTGCQS PLCSAQRHTP QSPFTNHAAA AGRKTLRSCM GLEWFPELYP GYLGLGVLPG
KPQCWNAMTQ KPQLISPQGE RLSQVSLLER SSTHIRSLEP PAGLTTSNFS LMRLLGAVQK
GWIRCNTTIR KSGFGGITML FTGYFVLCCS WSFRRLKKLC RPLPWKSTVP PCIGVAKTTG
DCRSKTCLD
