RSP14_HUMAN
ID RSP14_HUMAN Reviewed; 348 AA.
AC Q9UHP6;
DT 25-MAR-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Radial spoke head 14 homolog;
DE AltName: Full=Rhabdoid tumor deletion region protein 1;
GN Name=RSPH14 {ECO:0000312|HGNC:HGNC:13437}; Synonyms=RTDR1;
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 GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT MET-42.
RX PubMed=10607907; DOI=10.1016/s0378-1119(99)00456-4;
RA Zhou J.-Y., Fogelgren B., Wang Z., Roe B.A., Biegel J.A.;
RT "Isolation of genes from the rhabdoid tumor deletion region in chromosome
RT band 22q11.2.";
RL Gene 241:133-141(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lymph;
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 Q9UHP6; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-748350, EBI-11096309;
CC Q9UHP6; Q9UPQ3: AGAP1; NbExp=3; IntAct=EBI-748350, EBI-7159788;
CC Q9UHP6; Q60I27: ALS2CL; NbExp=3; IntAct=EBI-748350, EBI-12078276;
CC Q9UHP6; Q9BXS5: AP1M1; NbExp=6; IntAct=EBI-748350, EBI-541426;
CC Q9UHP6; Q96CW1: AP2M1; NbExp=6; IntAct=EBI-748350, EBI-297683;
CC Q9UHP6; Q9Y2T2: AP3M1; NbExp=11; IntAct=EBI-748350, EBI-2371151;
CC Q9UHP6; Q9NP55: BPIFA1; NbExp=3; IntAct=EBI-748350, EBI-953896;
CC Q9UHP6; Q68D86: CCDC102B; NbExp=6; IntAct=EBI-748350, EBI-10171570;
CC Q9UHP6; Q01850: CDR2; NbExp=3; IntAct=EBI-748350, EBI-1181367;
CC Q9UHP6; Q8N137: CNTROB; NbExp=3; IntAct=EBI-748350, EBI-947360;
CC Q9UHP6; Q9Y2V7: COG6; NbExp=3; IntAct=EBI-748350, EBI-3866319;
CC Q9UHP6; Q13643: FHL3; NbExp=3; IntAct=EBI-748350, EBI-741101;
CC Q9UHP6; Q06547: GABPB1; NbExp=3; IntAct=EBI-748350, EBI-618165;
CC Q9UHP6; Q08379: GOLGA2; NbExp=6; IntAct=EBI-748350, EBI-618309;
CC Q9UHP6; P14923: JUP; NbExp=3; IntAct=EBI-748350, EBI-702484;
CC Q9UHP6; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-748350, EBI-749265;
CC Q9UHP6; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-748350, EBI-2125614;
CC Q9UHP6; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-748350, EBI-14069005;
CC Q9UHP6; P19012: KRT15; NbExp=3; IntAct=EBI-748350, EBI-739566;
CC Q9UHP6; Q15323: KRT31; NbExp=6; IntAct=EBI-748350, EBI-948001;
CC Q9UHP6; Q6A162: KRT40; NbExp=3; IntAct=EBI-748350, EBI-10171697;
CC Q9UHP6; O95678: KRT75; NbExp=4; IntAct=EBI-748350, EBI-2949715;
CC Q9UHP6; Q01546: KRT76; NbExp=3; IntAct=EBI-748350, EBI-2952745;
CC Q9UHP6; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-748350, EBI-1216080;
CC Q9UHP6; Q8NEH6: MNS1; NbExp=3; IntAct=EBI-748350, EBI-743811;
CC Q9UHP6; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-748350, EBI-14066006;
CC Q9UHP6; O15160: POLR1C; NbExp=3; IntAct=EBI-748350, EBI-1055079;
CC Q9UHP6; Q04864: REL; NbExp=3; IntAct=EBI-748350, EBI-307352;
CC Q9UHP6; Q9UNE2: RPH3AL; NbExp=3; IntAct=EBI-748350, EBI-2855824;
CC Q9UHP6; Q86UC2: RSPH3; NbExp=3; IntAct=EBI-748350, EBI-6873025;
CC Q9UHP6; Q8IYM1: SEPTIN12; NbExp=3; IntAct=EBI-748350, EBI-2585067;
CC Q9UHP6; P15884: TCF4; NbExp=3; IntAct=EBI-748350, EBI-533224;
CC Q9UHP6; P15884-3: TCF4; NbExp=3; IntAct=EBI-748350, EBI-13636688;
CC Q9UHP6; Q12933: TRAF2; NbExp=3; IntAct=EBI-748350, EBI-355744;
CC Q9UHP6; P14373: TRIM27; NbExp=3; IntAct=EBI-748350, EBI-719493;
CC Q9UHP6; Q86XT4: TRIM50; NbExp=3; IntAct=EBI-748350, EBI-9867283;
CC Q9UHP6; Q86WT6: TRIM69; NbExp=3; IntAct=EBI-748350, EBI-749955;
CC Q9UHP6; Q86WT6-2: TRIM69; NbExp=5; IntAct=EBI-748350, EBI-11525489;
CC Q9UHP6; Q9C029: TRIM7; NbExp=3; IntAct=EBI-748350, EBI-2813981;
CC Q9UHP6; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-748350, EBI-9031083;
CC Q9UHP6; Q6S9Z5: ZNF474; NbExp=3; IntAct=EBI-748350, EBI-17269964;
CC Q9UHP6; Q9UEG4: ZNF629; NbExp=3; IntAct=EBI-748350, EBI-9977294;
CC -!- TISSUE SPECIFICITY: Expressed in adult cerebellum, spinal cord, spleen,
CC skeletal muscle and some/5 out of 9 rhabdoid tumors. Detected in fetal
CC brain, lung, liver and kidney. {ECO:0000269|PubMed:10607907}.
CC -!- SIMILARITY: Belongs to the flagellar radial spoke RSP14 family.
CC {ECO:0000305}.
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DR EMBL; AF133587; AAF02484.1; -; mRNA.
DR EMBL; CR456567; CAG30453.1; -; mRNA.
DR EMBL; AC245054; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC000029; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008986; AAH08986.1; -; mRNA.
DR CCDS; CCDS13803.1; -.
DR RefSeq; NP_055248.1; NM_014433.2.
DR AlphaFoldDB; Q9UHP6; -.
DR SMR; Q9UHP6; -.
DR BioGRID; 118037; 50.
DR IntAct; Q9UHP6; 44.
DR STRING; 9606.ENSP00000216036; -.
DR iPTMnet; Q9UHP6; -.
DR PhosphoSitePlus; Q9UHP6; -.
DR BioMuta; RSPH14; -.
DR DMDM; 29337004; -.
DR MassIVE; Q9UHP6; -.
DR PaxDb; Q9UHP6; -.
DR PeptideAtlas; Q9UHP6; -.
DR PRIDE; Q9UHP6; -.
DR ProteomicsDB; 84388; -.
DR Antibodypedia; 9251; 167 antibodies from 26 providers.
DR DNASU; 27156; -.
DR Ensembl; ENST00000216036.9; ENSP00000216036.4; ENSG00000100218.12.
DR GeneID; 27156; -.
DR KEGG; hsa:27156; -.
DR MANE-Select; ENST00000216036.9; ENSP00000216036.4; NM_014433.3; NP_055248.1.
DR UCSC; uc002zwt.4; human.
DR CTD; 27156; -.
DR DisGeNET; 27156; -.
DR GeneCards; RSPH14; -.
DR HGNC; HGNC:13437; RSPH14.
DR HPA; ENSG00000100218; Tissue enhanced (fallopian tube, testis).
DR MIM; 605663; gene.
DR neXtProt; NX_Q9UHP6; -.
DR OpenTargets; ENSG00000100218; -.
DR PharmGKB; PA34878; -.
DR VEuPathDB; HostDB:ENSG00000100218; -.
DR eggNOG; KOG0167; Eukaryota.
DR GeneTree; ENSGT00500000044989; -.
DR HOGENOM; CLU_057538_0_0_1; -.
DR InParanoid; Q9UHP6; -.
DR OMA; DYLHDPE; -.
DR OrthoDB; 1376007at2759; -.
DR PhylomeDB; Q9UHP6; -.
DR TreeFam; TF329375; -.
DR PathwayCommons; Q9UHP6; -.
DR SignaLink; Q9UHP6; -.
DR BioGRID-ORCS; 27156; 21 hits in 1058 CRISPR screens.
DR ChiTaRS; RSPH14; human.
DR GenomeRNAi; 27156; -.
DR Pharos; Q9UHP6; Tdark.
DR PRO; PR:Q9UHP6; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9UHP6; protein.
DR Bgee; ENSG00000100218; Expressed in bronchial epithelial cell and 124 other tissues.
DR ExpressionAtlas; Q9UHP6; baseline and differential.
DR Genevisible; Q9UHP6; HS.
DR Gene3D; 1.25.10.10; -; 2.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR000225; Armadillo.
DR InterPro; IPR042856; RSP14.
DR PANTHER; PTHR15599:SF1; PTHR15599:SF1; 1.
DR Pfam; PF00514; Arm; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Reference proteome; Repeat.
FT CHAIN 1..348
FT /note="Radial spoke head 14 homolog"
FT /id="PRO_0000097511"
FT REPEAT 16..55
FT /note="ARM 1"
FT /evidence="ECO:0000255"
FT REPEAT 57..96
FT /note="ARM 2"
FT /evidence="ECO:0000255"
FT REPEAT 99..137
FT /note="ARM 3"
FT /evidence="ECO:0000255"
FT REPEAT 139..179
FT /note="ARM 4"
FT /evidence="ECO:0000255"
FT REPEAT 180..219
FT /note="ARM 5"
FT /evidence="ECO:0000255"
FT REPEAT 221..260
FT /note="ARM 6"
FT /evidence="ECO:0000255"
FT REPEAT 262..301
FT /note="ARM 7"
FT /evidence="ECO:0000255"
FT REPEAT 303..346
FT /note="ARM 8"
FT /evidence="ECO:0000255"
FT VARIANT 42
FT /note="T -> M (in dbSNP:rs35211242)"
FT /evidence="ECO:0000269|PubMed:10607907"
FT /id="VAR_015443"
SQ SEQUENCE 348 AA; 38592 MW; FAED74B2479179A0 CRC64;
MAHSQNSLEL PININATQIT TAYGHRALPK LKEELQSEDL QTRQKALMAL CDLMHDPECI
YKAMNIGCME NLKALLKDSN SMVRIKTTEV LHITASHSVG RYAFLEHDIV LALSFLLNDP
SPVCRGNLYK AYMQLVQVPR GAQEIISKGL ISSLVWKLQV EVEEEEFQEF ILDTLVLCLQ
EDATEALGSN VVLVLKQKLL SANQNIRSKA ARALLNVSIS REGKKQVCHF DVIPILVHLL
KDPVEHVKSN AAGALMFATV ITEGKYAALE AQAIGLLLEL LHSPMTIARL NATKALTMLA
EAPEGRKALQ THVPTFRAME VETYEKPQVA EALQRAARIA ISVIEFKP
