KLH14_MOUSE
ID KLH14_MOUSE Reviewed; 630 AA.
AC Q69ZK5; Q9CU51;
DT 31-MAY-2011, integrated into UniProtKB/Swiss-Prot.
DT 31-MAY-2011, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Kelch-like protein 14;
DE AltName: Full=Protein interactor of Torsin-1A;
DE Short=Printor;
DE Short=Protein interactor of torsinA;
GN Name=Klhl14; Synonyms=Kiaa1384;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 96-630.
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-630.
RC TISSUE=Fetal brain;
RX PubMed=15368895; DOI=10.1093/dnares/11.3.205;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H.,
RA Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: IV.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 11:205-218(2004).
RN [4]
RP INTERACTION WITH TOR1A, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=19535332; DOI=10.1074/jbc.m109.004838;
RA Giles L.M., Li L., Chin L.S.;
RT "Printor, a novel torsinA-interacting protein implicated in dystonia
RT pathogenesis.";
RL J. Biol. Chem. 284:21765-21775(2009).
CC -!- SUBUNIT: Interacts with TOR1A. {ECO:0000269|PubMed:19535332}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Endoplasmic
CC reticulum membrane {ECO:0000250}. Note=In neurons, located in cell
CC bodies, as well as in neurites. {ECO:0000269|PubMed:19535332}.
CC -!- TISSUE SPECIFICITY: Expressed in the brain, primarily in neurons. In
CC the cerebral cortex, mostly expressed in layers I and II (at protein
CC level). Also observed in some neurons of the corpus striatum (at
CC protein level). Expressed at high levels in the hippocampus, including
CC in pyramidal cells of the CA1 and CA3 layers (at protein level). In the
CC cerebellum, expression in Purkinje cells is higher than in granular
CC cells (at protein level). Also detected in the medial septum, ventral
CC pallidum, thalamus, hypothalamus, amygdala, inferior colliculi, locus
CC caeruleus, peripyramidal nucleus, raphe nucleus, reticular formation,
CC spinal trigeminal nucleus, and vestibular nuclei (at protein level).
CC Low expression, if any, in glial cells (at protein level). Not observed
CC in the corpus callosum. {ECO:0000269|PubMed:19535332}.
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DR EMBL; CH466557; EDK96966.1; -; Genomic_DNA.
DR EMBL; AK018108; BAB31073.1; -; mRNA.
DR EMBL; AK173163; BAD32441.1; -; mRNA.
DR CCDS; CCDS37748.1; -.
DR RefSeq; NP_001074872.1; NM_001081403.1.
DR RefSeq; XP_006525885.1; XM_006525822.2.
DR RefSeq; XP_006525886.1; XM_006525823.3.
DR AlphaFoldDB; Q69ZK5; -.
DR SMR; Q69ZK5; -.
DR BioGRID; 230376; 1.
DR STRING; 10090.ENSMUSP00000113755; -.
DR PhosphoSitePlus; Q69ZK5; -.
DR MaxQB; Q69ZK5; -.
DR PaxDb; Q69ZK5; -.
DR PRIDE; Q69ZK5; -.
DR ProteomicsDB; 264775; -.
DR Antibodypedia; 8317; 169 antibodies from 22 providers.
DR Ensembl; ENSMUST00000049105; ENSMUSP00000042015; ENSMUSG00000042514.
DR Ensembl; ENSMUST00000122333; ENSMUSP00000113755; ENSMUSG00000042514.
DR GeneID; 225266; -.
DR KEGG; mmu:225266; -.
DR UCSC; uc008efi.1; mouse.
DR CTD; 57565; -.
DR MGI; MGI:1921249; Klhl14.
DR VEuPathDB; HostDB:ENSMUSG00000042514; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000159556; -.
DR HOGENOM; CLU_004253_14_3_1; -.
DR InParanoid; Q69ZK5; -.
DR OMA; QITKLCV; -.
DR OrthoDB; 250404at2759; -.
DR PhylomeDB; Q69ZK5; -.
DR TreeFam; TF328485; -.
DR BioGRID-ORCS; 225266; 1 hit in 71 CRISPR screens.
DR ChiTaRS; Klhl14; mouse.
DR PRO; PR:Q69ZK5; -.
DR Proteomes; UP000000589; Chromosome 18.
DR RNAct; Q69ZK5; protein.
DR Bgee; ENSMUSG00000042514; Expressed in lumbar subsegment of spinal cord and 87 other tissues.
DR Genevisible; Q69ZK5; MM.
DR GO; GO:0015629; C:actin cytoskeleton; ISO:MGI.
DR GO; GO:0016235; C:aggresome; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0005783; C:endoplasmic reticulum; ISO:MGI.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0043005; C:neuron projection; IDA:MGI.
DR GO; GO:0043025; C:neuronal cell body; IDA:MGI.
DR Gene3D; 2.120.10.80; -; 2.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR017096; BTB-kelch_protein.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR030584; KLHL14.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR45632:SF6; PTHR45632:SF6; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 2.
DR Pfam; PF01344; Kelch_1; 4.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 6.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Endoplasmic reticulum; Kelch repeat; Membrane;
KW Reference proteome; Repeat.
FT CHAIN 1..630
FT /note="Kelch-like protein 14"
FT /id="PRO_0000409552"
FT DOMAIN 33..153
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 212..281
FT /note="BACK"
FT REPEAT 325..374
FT /note="Kelch 1"
FT REPEAT 375..426
FT /note="Kelch 2"
FT REPEAT 427..473
FT /note="Kelch 3"
FT REPEAT 475..520
FT /note="Kelch 4"
FT REPEAT 522..572
FT /note="Kelch 5"
FT REPEAT 574..622
FT /note="Kelch 6"
FT REGION 69..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 94..108
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 96
FT /note="Q -> E (in Ref. 2; BAB31073)"
FT /evidence="ECO:0000305"
FT CONFLICT 252
FT /note="R -> H (in Ref. 2; BAB31073)"
FT /evidence="ECO:0000305"
FT CONFLICT 300
FT /note="M -> L (in Ref. 2; BAB31073)"
FT /evidence="ECO:0000305"
FT CONFLICT 439
FT /note="Y -> D (in Ref. 2; BAB31073)"
FT /evidence="ECO:0000305"
FT CONFLICT 453
FT /note="W -> R (in Ref. 2; BAB31073)"
FT /evidence="ECO:0000305"
FT CONFLICT 515
FT /note="L -> P (in Ref. 2; BAB31073)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 630 AA; 70953 MW; 83218E8488919F9D CRC64;
MSRSGDRTST FDPSHSDNLL HGLNLLWRKQ LFCDVTLTAQ GQQFHCHKAV LASCSQYFRS
LFSSHPPLGG GVGGQDGLGA PKDQQQQQQP QQQPPQQQQP PPQEEPGTPS SSPDDKLLTS
PRAINNLVLQ GCSSIGLRLV LEYLYTANVT LSLDTVEEVL SVSKILHIPQ VTKLCVQFLN
DQISVQNYKQ VCKIAALHGL EETKKLANKY LVEDVLLLNF EEMRALLDSL PPPVESELAL
FQMSVLWLEH DRETRMQYAP DLMKRLRFAL IPAPELVERV QSVDFMRTDP VCQKLLLDAM
NYHLMPFRQH CRQSLASRIR SNKKMLLLVG GLPPGPDRLP SNLVQYYDDE KKTWKILTIM
PYNSAHHCVV EVENFLFVLG GEDQWNPNGK HSTNFVSRYD PRFNSWIQLP PMQERRASFY
ACRLDKHLYV IGGRNETGYL SSVECYNLDT NEWRYVSSLP QPLAAHAGAV HNGKIYISGG
VHNGEYVPWL YCYDPVMDVW ARKQDMNTKR AIHTLAVMND RLYAIGGNHL KGFSHLDVML
VECYDPKGDQ WNILQTPILE GRSGPGCAVL DDSIYLVGGY SWSMGAYKSS TICYCPEKGT
WTELEGDVAE PLAGPACATV ILPACVPYNK
