ID CASP_HUMAN Reviewed; 678 AA. AC Q13948; B3KWH3; B3KWH8; B4DZZ2; G3V1Z6; J3KPQ6; Q53GU9; Q8TBS3; DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot. DT 10-JAN-2006, sequence version 2. DT 19-FEB-2014, entry version 92. DE RecName: Full=Protein CASP; GN Name=CUX1; Synonyms=CUTL1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Umbilical vein; RX PubMed=9332351; DOI=10.1016/S0378-1119(97)00243-6; RA Lievens P.M.-J., Tufarelli C., Donady J.J., Stagg A., Neufeld E.J.; RT "CASP, a novel, highly conserved alternative-splicing product of the RT CDP/cut/cux gene, lacks cut-repeat and homeo DNA-binding domains, and RT interacts with full-length CDP in vitro."; RL Gene 197:73-81(1997). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 9 AND 10), AND RP VARIANT THR-464. RC TISSUE=Thalamus, Thymus, and Tongue; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT RP THR-464. RC TISSUE=Liver; RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., RA Tanaka A., Yokoyama S.; RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT RP VAL-545. 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP ALTERNATIVE SPLICING. RX PubMed=10607901; DOI=10.1016/S0378-1119(99)00465-5; RA Rong Zeng W., Soucie E., Sung Moon N., Martin-Soudant N., Berube G., RA Leduy L., Nepveu A.; RT "Exon/intron structure and alternative transcripts of the CUTL1 RT gene."; RL Gene 241:75-85(2000). RN [8] RP SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, SUBUNIT, AND MUTAGENESIS RP OF TYR-624 AND HIS-629. RX PubMed=12429822; DOI=10.1091/mbc.E02-06-0349; RA Gillingham A.K., Pfeifer A.C., Munro S.; RT "CASP, the alternatively spliced product of the gene encoding the RT CCAAT-displacement protein transcription factor, is a Golgi membrane RT protein related to giantin."; RL Mol. Biol. Cell 13:3761-3774(2002). RN [9] RP FUNCTION, AND INTERACTION WITH GOLGA5. RX PubMed=15718469; DOI=10.1126/science.1108061; RA Malsam J., Satoh A., Pelletier L., Warren G.; RT "Golgin tethers define subpopulations of COPI vesicles."; RL Science 307:1095-1098(2005). RN [10] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Embryonic kidney; RX PubMed=17525332; DOI=10.1126/science.1140321; RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, RA Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., RA Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.; RT "ATM and ATR substrate analysis reveals extensive protein networks RT responsive to DNA damage."; RL Science 316:1160-1166(2007). RN [11] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [12] RP VARIANTS [LARGE SCALE ANALYSIS] GLY-490 AND CYS-609. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., RA Vogelstein B., Kinzler K.W., Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal RT cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: May be involved in intra-Golgi retrograde transport. CC -!- SUBUNIT: Homodimer; disulfide-linked. Interacts with GOLGA5. CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type CC IV membrane protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=11; CC Comment=Additional isoforms seem to exist; CC Name=4; Synonyms=CASP; CC IsoId=Q13948-1; Sequence=Displayed; CC Name=11; CC IsoId=P39880-9; Sequence=External; CC Note=No experimental confirmation available; CC Name=1; CC IsoId=P39880-1; Sequence=External; CC Name=2; CC IsoId=P39880-2; Sequence=External; CC Name=3; CC IsoId=P39880-3; Sequence=External; CC Note=No experimental confirmation available; CC Name=5; CC IsoId=P39880-4; Sequence=External; CC Name=6; CC IsoId=P39880-5; Sequence=External; CC Name=7; CC IsoId=P39880-6; Sequence=External; CC Name=8; CC IsoId=Q13948-2; Sequence=VSP_040094; CC Note=No experimental confirmation available; CC Name=9; CC IsoId=Q13948-9; Sequence=VSP_045593, VSP_040094; CC Note=No experimental confirmation available; CC Name=10; CC IsoId=Q13948-10; Sequence=VSP_045927; CC Note=No experimental confirmation available; CC -!- SIMILARITY: Belongs to the CASP family. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology CC and Haematology; CC URL="http://atlasgeneticsoncology.org/Genes/CUX1ID403ch7q22.html"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L12579; AAA35654.1; -; mRNA. DR EMBL; AK125076; BAG54135.1; -; mRNA. DR EMBL; AK125097; BAG54140.1; -; mRNA. DR EMBL; AK303151; BAG64254.1; -; mRNA. DR EMBL; AK222832; BAD96552.1; -; mRNA. DR EMBL; AC005072; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC005086; AAP22331.1; -; Genomic_DNA. DR EMBL; AC005088; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC005096; AAS07410.1; -; Genomic_DNA. DR EMBL; AC005103; AAS07388.1; -; Genomic_DNA. DR EMBL; AC092788; AAS07523.1; -; Genomic_DNA. DR EMBL; CH471197; EAW50227.1; -; Genomic_DNA. DR EMBL; BC025422; AAH25422.1; -; mRNA. DR RefSeq; NP_001189473.1; NM_001202544.1. DR RefSeq; NP_001189474.1; NM_001202545.1. DR RefSeq; NP_001189475.1; NM_001202546.1. DR RefSeq; NP_001904.2; NM_001913.3. DR RefSeq; NP_852477.1; NM_181500.2. DR UniGene; Hs.191482; -. DR ProteinModelPortal; Q13948; -. DR BioGrid; 107903; 19. DR DMDM; 85681028; -. DR PaxDb; Q13948; -. DR PRIDE; Q13948; -. DR DNASU; 1523; -. DR Ensembl; ENST00000292538; ENSP00000292538; ENSG00000257923. DR Ensembl; ENST00000393824; ENSP00000377410; ENSG00000257923. DR Ensembl; ENST00000437600; ENSP00000414091; ENSG00000257923. DR Ensembl; ENST00000547394; ENSP00000449371; ENSG00000257923. DR Ensembl; ENST00000561974; ENSP00000455766; ENSG00000259938. DR Ensembl; ENST00000562243; ENSP00000457546; ENSG00000259938. DR Ensembl; ENST00000565172; ENSP00000456937; ENSG00000259938. DR Ensembl; ENST00000567764; ENSP00000455653; ENSG00000259938. DR GeneID; 1523; -. DR KEGG; hsa:1523; -. DR UCSC; uc011kkn.2; human. DR CTD; 1523; -. DR GeneCards; GC07P101459; -. DR HGNC; HGNC:2557; CUX1. DR HPA; HPA003317; -. DR MIM; 116896; gene. DR neXtProt; NX_Q13948; -. DR PharmGKB; PA162382924; -. DR eggNOG; NOG325167; -. DR HOVERGEN; HBG053415; -. DR KO; K09313; -. DR OMA; RAYKRMS; -. DR SignaLink; Q13948; -. DR ChiTaRS; CUX1; human. DR GenomeRNAi; 1523; -. DR NextBio; 35535186; -. DR PRO; PR:Q13948; -. DR ArrayExpress; Q13948; -. DR Bgee; Q13948; -. DR CleanEx; HS_CUX1; -. DR Genevestigator; Q13948; -. DR GO; GO:0030173; C:integral component of Golgi membrane; IEA:InterPro. DR GO; GO:0006891; P:intra-Golgi vesicle-mediated transport; IEA:InterPro. DR InterPro; IPR012955; CASP_C. DR Pfam; PF08172; CASP_C; 1. PE 1: Evidence at protein level; KW Alternative splicing; Coiled coil; Complete proteome; Disulfide bond; KW Golgi apparatus; Membrane; Polymorphism; Reference proteome; KW Transmembrane; Transmembrane helix; Transport. FT CHAIN 1 678 Protein CASP. FT /FTId=PRO_0000071790. FT TOPO_DOM 1 619 Cytoplasmic (Potential). FT TRANSMEM 620 640 Helical; Anchor for type IV membrane FT protein; (Potential). FT TOPO_DOM 641 678 Lumenal (Potential). FT COILED 67 450 Potential. FT COILED 502 556 Potential. FT VAR_SEQ 22 58 Missing (in isoform 9). FT /FTId=VSP_045593. FT VAR_SEQ 58 73 Missing (in isoform 10). FT /FTId=VSP_045927. FT VAR_SEQ 288 289 Missing (in isoform 8 and isoform 9). FT /FTId=VSP_040094. FT VARIANT 464 464 A -> T (in dbSNP:rs803064). FT /FTId=VAR_024923. FT VARIANT 490 490 S -> G (in a breast cancer sample; FT somatic mutation). FT /FTId=VAR_036285. FT VARIANT 545 545 I -> V (in dbSNP:rs2230103). FT /FTId=VAR_024924. FT VARIANT 609 609 R -> C (in a colorectal cancer sample; FT somatic mutation). FT /FTId=VAR_036286. FT MUTAGEN 624 624 Y->L: Retained in the endoplasmic FT reticulum. FT MUTAGEN 629 629 H->L: No effect on subcellular location. FT CONFLICT 407 407 N -> S (in Ref. 6; AAH25422). FT CONFLICT 455 455 I -> V (in Ref. 2; BAG64254). FT CONFLICT 525 525 L -> V (in Ref. 2; BAG64254). FT CONFLICT 551 551 I -> V (in Ref. 3; BAD96552). FT CONFLICT 613 613 S -> P (in Ref. 2; BAG54140). FT CONFLICT 657 657 F -> L (in Ref. 1; AAA35654). SQ SEQUENCE 678 AA; 77455 MW; E587F222825EA47E CRC64; MAANVGSMFQ YWKRFDLQQL QRELDATATV LANRQDESEQ SRKRLIEQSR EFKKNTPEDL RKQVAPLLKS FQGEIDALSK RSKEAEAAFL NVYKRLIDVP DPVPALDLGQ QLQLKVQRLH DIETENQKLR ETLEEYNKEF AEVKNQEVTI KALKEKIREY EQTLKNQAET IALEKEQKLQ NDFAEKERKL QETQMSTTSK LEEAEHKVQS LQTALEKTRT ELFDLKTKYD EETTAKADEI EMIMTDLERA NQRAEVAQRE AETLREQLSS ANHSLQLASQ IQKAPDVEQA IEVLTRSSLE VELAAKEREI AQLVEDVQRL QASLTKLREN SASQISQLEQ QLSAKNSTLK QLEEKLKGQA DYEEVKKELN ILKSMEFAPS EGAGTQDAAK PLEVLLLEKN RSLQSENAAL RISNSDLSGR CAELQVRITE AVATATEQRE LIARLEQDLS IIQSIQRPDA EGAAEHRLEK IPEPIKEATA LFYGPAAPAS GALPEGQVDS LLSIISSQRE RFRARNQELE AENRLAQHTL QALQSELDSL RADNIKLFEK IKFLQSYPGR GSGSDDTELR YSSQYEERLD PFSSFSKRER QRKYLSLSPW DKATLSMGRL VLSNKMARTI GFFYTLFLHC LVFLVLYKLA WSESMERDCA TFCAKKFADH LHKFHENDNG AAAGDLWQ //