ID CRNL1_HUMAN STANDARD; PRT; 848 AA. AC Q9BZJ0; Q5JY64; Q8WYI5; Q9BZI9; Q9BZJ1; Q9BZJ2; Q9GZW7; Q9H8F8; AC Q9NQH5; Q9NYD8; DT 01-FEB-2003, integrated into UniProtKB/Swiss-Prot. DT 24-JAN-2006, sequence version 3. DT 18-APR-2006, entry version 39. DE Crooked neck-like protein 1 (Crooked neck homolog) (hCrn). GN Name=CRNKL1; Synonyms=CRN; ORFNames=CGI-201, MSTP021; 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] (ISOFORMS 1; 2; 3; 4 AND 5). RX MEDLINE=21240337; PubMed=11342225; DOI=10.1016/S0167-4781(00)00295-5; RA Lai C.-H., Chiu J.-Y., Lin W.-C.; RT "Identification of the human crooked neck gene by comparative gene RT identification."; RL Biochim. Biophys. Acta 1517:449-454(2001). RN [2] RP NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2), CHARACTERIZATION, AND RP IDENTIFICATION IN SPLICEOSOMAL COMPLEX WITH HPRP8BP AND SNRPB2. RC TISSUE=T lymphoblast; RX MEDLINE=22079017; PubMed=12084575; DOI=10.1016/S0167-4781(02)00368-8; RA Chung S., Zhou Z., Huddleston K.A., Harrison D.A., Reed R., RA Coleman T.A., Rymond B.C.; RT "Crooked neck is a component of the human spliceosome and implicated RT in the splicing process."; RL Biochim. Biophys. Acta 1576:287-297(2002). RN [3] RP NUCLEOTIDE SEQUENCE (ISOFORM 2). RC TISSUE=Heart; RA Xu Y.Y., Sun L.Z., Wu Q.Y., Liu Y.Q., Liu B., Zhao B., Wang X.Y., RA Song L., Ye J., Sheng H., Gao Y., Zhang C.L., Zhang J., Wei Y.J., RA Sun Y.H., Jiang Y.X., Zhao X.W., Liu S., Liu L.S., Ding J.F., RA Gao R.L., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T.; RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=21638749; PubMed=11780052; DOI=10.1038/414865a; RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., RA Rogers J.; RT "The DNA sequence and comparative analysis of human chromosome 20."; RL Nature 414:865-871(2001). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 220-848 (ISOFORMS 1/2/3). RC TISSUE=Placenta; 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 [6] RP SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). RX PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8; RA Hillman R.T., Green R.E., Brenner S.E.; RT "An unappreciated role for RNA surveillance."; RL Genome Biol. 5:RESEARCH008.1-RESEARCH008.16(2004). CC -!- FUNCTION: Involved in pre-mRNA splicing process. CC -!- SUBUNIT: Present in a spliceosome complex assembled in vitro CC containing CRNKL1, HPRP8BP and SNRPB2. Isoform 2 seems to be CC predominant in the spliceosome complex. CC -!- SUBCELLULAR LOCATION: Nuclear; in nuclear speckles. Colocalizes CC with core spliceosomal snRNP proteins. Also diffusely expressed in CC cytoplasm. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=5; CC Name=1; Synonyms=Type-II; CC IsoId=Q9BZJ0-1; Sequence=Displayed; CC Name=2; Synonyms=Short; CC IsoId=Q9BZJ0-2; Sequence=VSP_002058; CC Name=3; CC IsoId=Q9BZJ0-3; Sequence=VSP_002059; CC Name=4; Synonyms=Type-III; CC IsoId=Q9BZJ0-4; Sequence=VSP_002059, VSP_002062; CC Note=May be produced at very low levels due to a premature stop CC codon in the mRNA, leading to nonsense-mediated mRNA decay; CC Name=5; Synonyms=type-IV; CC IsoId=Q9BZJ0-5; Sequence=VSP_002060, VSP_002061; CC Note=May be produced at very low levels due to a premature stop CC codon in the mRNA, leading to nonsense-mediated mRNA decay; CC -!- TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis. CC Not expressed in brain and lung. CC -!- SIMILARITY: Belongs to the crooked-neck family. CC -!- SIMILARITY: Contains 17 HAT repeats. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AF255443; AAF65571.2; -; mRNA. DR EMBL; AF318302; AAK01924.1; -; mRNA. DR EMBL; AF318303; AAK01925.1; -; mRNA. DR EMBL; AF318304; AAK01926.1; -; mRNA. DR EMBL; AF318305; AAK01927.1; -; mRNA. DR EMBL; AF111802; AAL39004.1; -; mRNA. DR EMBL; AL035454; CAI42113.1; -; Genomic_DNA. DR EMBL; AK022908; BAB14303.1; ALT_INIT; mRNA. DR EMBL; AK023246; BAB14485.1; ALT_INIT; mRNA. DR EMBL; AK023728; BAB14659.1; -; mRNA. DR UniGene; Hs.171342; -. DR Ensembl; ENSG00000101343; Homo sapiens. DR HGNC; HGNC:15762; CRNKL1. DR GO; GO:0005634; C:nucleus; NAS. DR GO; GO:0000245; P:spliceosome assembly; TAS. DR InterPro; IPR003107; HAT. DR Pfam; PF02184; HAT; 12. DR SMART; SM00386; HAT; 13. KW Alternative splicing; mRNA processing; mRNA splicing; Nuclear protein; KW Polymorphism; Repeat. FT CHAIN 1 848 Crooked neck-like protein 1. FT /FTId=PRO_0000205719. FT REPEAT 222 254 HAT 1. FT REPEAT 256 288 HAT 2. FT REPEAT 290 322 HAT 3. FT REPEAT 324 355 HAT 4. FT REPEAT 357 388 HAT 5. FT REPEAT 390 425 HAT 6. FT REPEAT 427 461 HAT 7. FT REPEAT 471 503 HAT 8. FT REPEAT 505 539 HAT 9. FT REPEAT 549 585 HAT 10. FT REPEAT 587 618 HAT 11. FT REPEAT 620 652 HAT 12. FT REPEAT 654 688 HAT 13. FT REPEAT 690 721 HAT 14. FT REPEAT 726 767 HAT 15. FT REPEAT 769 807 HAT 16. FT REPEAT 809 834 HAT 17. FT COMPBIAS 207 210 Poly-Pro. FT VARSPLIC 1 161 Missing (in isoform 2). FT /FTId=VSP_002058. FT VARSPLIC 23 74 TSRLELRSYSLARRHGSTEPLVLAWSSQFRRLTWGCALDAL FT HRSPCVAASQH -> ILASLLVSTALPTSSAAPGRRTPRAA FT ARRTRSLVTMETVPPPSRLKREVKGQ (in isoform FT 5). FT /FTId=VSP_002060. FT VARSPLIC 23 34 Missing (in isoform 3 and isoform 4). FT /FTId=VSP_002059. FT VARSPLIC 75 848 Missing (in isoform 5). FT /FTId=VSP_002061. FT VARSPLIC 117 848 Missing (in isoform 4). FT /FTId=VSP_002062. FT VARIANT 35 35 R -> G (in dbSNP:7508949). FT /FTId=VAR_024995. FT CONFLICT 213 213 K -> R (in Ref. 1). FT CONFLICT 513 513 V -> A (in Ref. 5; BAB14659). SQ SEQUENCE 848 AA; 100551 MW; 7C4509D2B635DE4D CRC64; MTATVENLTF QKDTLGNAVD KNTSRLELRS YSLARRHGST EPLVLAWSSQ FRRLTWGCAL DALHRSPCVA ASQHGVTHLI RSSRTPHSTR CRKEDAQPGH HGNGAASVTA QARGQRSVLQ VPLPVPRSCL FSESFVVSVS SQSRFLASVP GTGVQRSTAA DMAASTAAGK QRIPKVAKVK NKAPAEVQIT AEQLLREAKE RELELLPPPP QQKITDEEEL NDYKLRKRKT FEDNIRKNRT VISNWIKYAQ WEESLKEIQR ARSIYERALD VDYRNITLWL KYAEMEMKNR QVNHARNIWD RAITTLPRVN QFWYKYTYME EMLGNVAGAR QVFERWMEWQ PEEQAWHSYI NFELRYKEVD RARTIYERFV LVHPDVKNWI KYARFEEKHA YFAHARKVYE RAVEFFGDEH MDEHLYVAFA KFEENQKEFE RVRVIYKYAL DRISKQDAQE LFKNYTIFEK KFGDRRGIED IIVSKRRFQY EEEVKANPHN YDAWFDYLRL VESDAEAEAV REVYERAIAN VPPIQEKRHW KRYIYLWINY ALYEELEAKD PERTRQVYQA SLELIPHKKF TFAKMWILYA QFEIRQKNLS LARRALGTSI GKCPKNKLFK VYIELELQLR EFDRCRKLYE KFLEFGPENC TSWIKFAELE TILGDIDRAR AIYELAISQP RLDMPEVLWK SYIDFEIEQE ETERTRNLYR RLLQRTQHVK VWISFAQFEL SSGKEGSLTK CRQIYEEANK TMRNCEEKEE RLMLLESWRS FEEEFGTASD KERVDKLMPE KVKKRRKVQT DDGSDAGWEE YFDYIFPEDA ANQPNLKLLA MAKLWKKQQQ EKEDAEHHPD EDVDESES //