DNAI7_HUMAN
ID DNAI7_HUMAN Reviewed; 716 AA.
AC Q6TDU7; B4DNP2; F5H6T6; Q17RL2; Q4G171; Q5U5K5; Q9NV50;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 2.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Dynein axonemal intermediate chain 7 {ECO:0000305};
DE AltName: Full=Cancer susceptibility candidate gene 1 protein;
DE Short=Protein CASC1;
DE AltName: Full=Cilia and flagella associated protein 94 {ECO:0000312|HGNC:HGNC:29599};
DE AltName: Full=Lung adenoma susceptibility 1-like protein;
DE AltName: Full=Protein phosphatase 1 regulatory subunit 54;
GN Name=DNAI7 {ECO:0000312|HGNC:HGNC:29599};
GN Synonyms=CASC1, CFAP94 {ECO:0000312|HGNC:HGNC:29599}, LAS1, PPP1R54;
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 [MRNA] (ISOFORM 1), AND VARIANT GLU-633.
RX PubMed=14583591; DOI=10.1073/pnas.2133947100;
RA Zhang Z., Futamura M., Vikis H.G., Wang M., Li J., Wang Y., Guan K.-L.,
RA You M.;
RT "Positional cloning of the major quantitative trait locus underlying lung
RT tumor susceptibility in mice.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:12642-12647(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 166-716 (ISOFORM 1), AND VARIANT GLU-633.
RC TISSUE=Lung, and Ovarian carcinoma;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLU-633.
RC TISSUE=Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP GLU-633.
RC TISSUE=Colon, and Testis;
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).
RN [6]
RP VARIANT SER-33.
RX PubMed=16410263; DOI=10.1093/carcin/bgi332;
RA Manenti G., Galbiati F., Pettinicchio A., Spinola M., Piconese S.,
RA Leoni V.P., Conti B., Ravagnani F., Incarbone M., Pastorino U.,
RA Dragani T.A.;
RT "A V141L polymorphism of the human LRMP gene is associated with survival of
RT lung cancer patients.";
RL Carcinogenesis 27:1386-1390(2006).
CC -!- FUNCTION: Via its association with the multisubunit axonemal dynein
CC complex, is potentially involved in the regulation of cilia function.
CC May also act as a cell cycle regulator. {ECO:0000250|UniProtKB:Q6TDU8}.
CC -!- SUBUNIT: Part of the multisubunit axonemal dynein complex formed at
CC least of two heavy chains and a number of intermediate and light
CC chains. Interacts with tubulin. Associates with microtubule.
CC {ECO:0000250|UniProtKB:Q6TDU8}.
CC -!- INTERACTION:
CC Q6TDU7; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-5235378, EBI-11096309;
CC Q6TDU7; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-5235378, EBI-744782;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q6TDU8}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q6TDU8}. Note=Colocalizes with microtubules in
CC interphase. {ECO:0000250|UniProtKB:Q6TDU8}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6TDU7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6TDU7-2; Sequence=VSP_033380;
CC Name=3;
CC IsoId=Q6TDU7-3; Sequence=VSP_033381, VSP_033382, VSP_033383;
CC Name=4;
CC IsoId=Q6TDU7-4; Sequence=VSP_046917;
CC -!- PTM: Ubiquitinated. Ubiquitination leads to its degradation through the
CC 26S proteasome. Ubiquitin-proteasome-mediated DNAI7 degradation occurs
CC in mitosis. {ECO:0000250|UniProtKB:Q6TDU8}.
CC -!- SIMILARITY: Belongs to the DNAI7 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91908.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91908.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY423543; AAQ93499.1; -; mRNA.
DR EMBL; AK001783; BAA91908.1; ALT_SEQ; mRNA.
DR EMBL; AK297998; BAG60304.1; -; mRNA.
DR EMBL; AC023510; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471094; EAW96509.1; -; Genomic_DNA.
DR EMBL; BC028415; AAH28415.1; -; mRNA.
DR EMBL; BC047415; AAH47415.2; -; mRNA.
DR EMBL; BC057795; AAH57795.1; -; mRNA.
DR EMBL; BC117281; AAI17282.2; -; mRNA.
DR EMBL; BC117283; AAI17284.2; -; mRNA.
DR CCDS; CCDS41762.1; -. [Q6TDU7-1]
DR CCDS; CCDS41763.1; -. [Q6TDU7-3]
DR CCDS; CCDS55810.1; -. [Q6TDU7-2]
DR CCDS; CCDS55811.1; -. [Q6TDU7-4]
DR RefSeq; NP_001076441.1; NM_001082972.2. [Q6TDU7-3]
DR RefSeq; NP_001076442.1; NM_001082973.2. [Q6TDU7-1]
DR RefSeq; NP_001191030.1; NM_001204101.2. [Q6TDU7-4]
DR RefSeq; NP_001191031.1; NM_001204102.2. [Q6TDU7-2]
DR RefSeq; NP_001306906.1; NM_001319977.1.
DR RefSeq; NP_001306907.1; NM_001319978.1. [Q6TDU7-2]
DR RefSeq; NP_060742.3; NM_018272.4.
DR RefSeq; XP_016875050.1; XM_017019561.1.
DR AlphaFoldDB; Q6TDU7; -.
DR SMR; Q6TDU7; -.
DR BioGRID; 120550; 15.
DR IntAct; Q6TDU7; 7.
DR STRING; 9606.ENSP00000379310; -.
DR iPTMnet; Q6TDU7; -.
DR PhosphoSitePlus; Q6TDU7; -.
DR BioMuta; CASC1; -.
DR DMDM; 313104089; -.
DR jPOST; Q6TDU7; -.
DR MassIVE; Q6TDU7; -.
DR MaxQB; Q6TDU7; -.
DR PaxDb; Q6TDU7; -.
DR PeptideAtlas; Q6TDU7; -.
DR PRIDE; Q6TDU7; -.
DR ProteomicsDB; 27287; -.
DR ProteomicsDB; 67386; -. [Q6TDU7-1]
DR ProteomicsDB; 67387; -. [Q6TDU7-2]
DR ProteomicsDB; 67388; -. [Q6TDU7-3]
DR Antibodypedia; 50635; 39 antibodies from 10 providers.
DR DNASU; 55259; -.
DR Ensembl; ENST00000320267.13; ENSP00000313141.9; ENSG00000118307.20. [Q6TDU7-1]
DR Ensembl; ENST00000354189.9; ENSP00000346126.5; ENSG00000118307.20. [Q6TDU7-3]
DR Ensembl; ENST00000395990.6; ENSP00000379313.2; ENSG00000118307.20. [Q6TDU7-2]
DR Ensembl; ENST00000545133.5; ENSP00000437373.1; ENSG00000118307.20. [Q6TDU7-4]
DR GeneID; 55259; -.
DR KEGG; hsa:55259; -.
DR UCSC; uc001rgj.4; human. [Q6TDU7-1]
DR CTD; 55259; -.
DR DisGeNET; 55259; -.
DR GeneCards; DNAI7; -.
DR HGNC; HGNC:29599; DNAI7.
DR HPA; ENSG00000118307; Tissue enhanced (fallopian tube, testis).
DR MIM; 616906; gene.
DR neXtProt; NX_Q6TDU7; -.
DR OpenTargets; ENSG00000118307; -.
DR VEuPathDB; HostDB:ENSG00000118307; -.
DR eggNOG; ENOG502QQM9; Eukaryota.
DR GeneTree; ENSGT00390000004708; -.
DR InParanoid; Q6TDU7; -.
DR OrthoDB; 526857at2759; -.
DR PhylomeDB; Q6TDU7; -.
DR PathwayCommons; Q6TDU7; -.
DR SignaLink; Q6TDU7; -.
DR BioGRID-ORCS; 55259; 13 hits in 1061 CRISPR screens.
DR ChiTaRS; CASC1; human.
DR GenomeRNAi; 55259; -.
DR Pharos; Q6TDU7; Tdark.
DR PRO; PR:Q6TDU7; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6TDU7; protein.
DR Bgee; ENSG00000118307; Expressed in sperm and 120 other tissues.
DR ExpressionAtlas; Q6TDU7; baseline and differential.
DR Genevisible; Q6TDU7; HS.
DR GO; GO:0005858; C:axonemal dynein complex; ISS:UniProtKB.
DR GO; GO:0005930; C:axoneme; IBA:GO_Central.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0048487; F:beta-tubulin binding; ISS:UniProtKB.
DR GO; GO:0008017; F:microtubule binding; ISS:UniProtKB.
DR InterPro; IPR022110; CASC1_C.
DR InterPro; IPR031826; IC97/Casc1_N.
DR InterPro; IPR023247; IC97/Dnai7-like.
DR PANTHER; PTHR20929; PTHR20929; 1.
DR Pfam; PF12366; Casc1_C; 1.
DR Pfam; PF15927; Casc1_N; 1.
DR PRINTS; PR02043; CANCERSCCP1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cytoplasm; Reference proteome;
KW Ubl conjugation.
FT CHAIN 1..716
FT /note="Dynein axonemal intermediate chain 7"
FT /id="PRO_0000332731"
FT VAR_SEQ 1..60
FT /note="MSGSKKKKVTKAERLKLLQEEEERRLKEEEEARLKYEKEEMERLEIQRIEKE
FT KWHRLEAK -> M (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046917"
FT VAR_SEQ 1..40
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033380"
FT VAR_SEQ 1
FT /note="M -> MRQTGGGATTDSASPVLNNVIKSQSYFTAKRVGLGNNSYLGVGRPSS
FT QQWLSLPGPGGQGPKAKK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033381"
FT VAR_SEQ 626
FT /note="V -> W (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033382"
FT VAR_SEQ 627..716
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033383"
FT VARIANT 33
FT /note="R -> S (in dbSNP:rs10842496)"
FT /evidence="ECO:0000269|PubMed:16410263"
FT /id="VAR_043008"
FT VARIANT 633
FT /note="A -> E (in dbSNP:rs859146)"
FT /evidence="ECO:0000269|PubMed:14583591,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_062232"
SQ SEQUENCE 716 AA; 83160 MW; BDDCE21CB7E701B6 CRC64;
MSGSKKKKVT KAERLKLLQE EEERRLKEEE EARLKYEKEE MERLEIQRIE KEKWHRLEAK
DLERRNEELE ELYLLERCFP EAEKLKQETK LLSQWKHYIQ CDGSPDPSVA QEMNTFISLW
KEKTNETFEE VIEKSKVVLN LIEKLKFILL ETPPCDLQDK NIIQYQESIL QLQELLHLKF
GVATEILLKQ ASTLADLDSG NMEKVIKDEN VTLYVWANLK KNPRHRSVRF SETQIGFEIP
RILATSDIAV RLLHTHYDHV SALHPVSTPS KEYTSAVTEL VKDDVKNVEK AISKEVEEES
KQQERGSHLI QEEEIKVEEE QGDIEVKMSS AEEESEAIKC EREMKVLSET VSAAQLLLVE
NSSEKPDFFE DNVVDLCQFT TLGGVYHLDI LELPPQCKPV KGWMIVEILK EGLQKYTYPP
ETTEEFETEN AFPPIEVTLE VHENVIFFED PVVVRWDAEG KHWRTDGISN VSYKPKERLV
TFSLDTFGPV TLIQDAHINM PYQSWELRPL DVNKVLLTVT TVFTEIQIQI KENLCMLSSI
KLKDKKHISI LEGTWMTPIP FIIALKEAGL NIFPTRHSHF YVIINNKVPL VEVKAYRQMA
LLSSAFAFGW SKWNLLCNST KVVFKVREHL TEACTENPNW ALLMFSGDRA QRLKIKEESE
AFSEALKEET EFHSTLYHMV KDFASEEAME KVRSSNCQFV NSVCHMLLST RLLSYS
