KLH14_HUMAN
ID KLH14_HUMAN Reviewed; 628 AA.
AC Q9P2G3; A6NNW1; B4DHA0; Q8WU41;
DT 01-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 08-NOV-2005, sequence version 2.
DT 03-AUG-2022, entry version 163.
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 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 MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Kidney;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 126-628 (ISOFORM 1).
RC TISSUE=Brain;
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 [6]
RP INTERACTION WITH TOR1A, AND SUBCELLULAR LOCATION.
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, preferentially with the ATP-free form.
CC {ECO:0000269|PubMed:19535332}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19535332}.
CC Endoplasmic reticulum membrane {ECO:0000269|PubMed:19535332}.
CC Note=Colocalizes with TOR1A at the endoplasmic reticulum level.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9P2G3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P2G3-2; Sequence=VSP_041342, VSP_041343;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA92622.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAG58061.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB037805; BAA92622.1; ALT_INIT; mRNA.
DR EMBL; AC025887; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471088; EAX01296.1; -; Genomic_DNA.
DR EMBL; CH471088; EAX01295.1; -; Genomic_DNA.
DR EMBL; BC021267; AAH21267.1; -; mRNA.
DR EMBL; AK294996; BAG58061.1; ALT_INIT; mRNA.
DR CCDS; CCDS32813.1; -. [Q9P2G3-1]
DR RefSeq; NP_065856.1; NM_020805.2. [Q9P2G3-1]
DR AlphaFoldDB; Q9P2G3; -.
DR SMR; Q9P2G3; -.
DR BioGRID; 121619; 81.
DR IntAct; Q9P2G3; 8.
DR STRING; 9606.ENSP00000352314; -.
DR iPTMnet; Q9P2G3; -.
DR PhosphoSitePlus; Q9P2G3; -.
DR BioMuta; KLHL14; -.
DR DMDM; 81175180; -.
DR EPD; Q9P2G3; -.
DR MassIVE; Q9P2G3; -.
DR MaxQB; Q9P2G3; -.
DR PaxDb; Q9P2G3; -.
DR PeptideAtlas; Q9P2G3; -.
DR PRIDE; Q9P2G3; -.
DR ProteomicsDB; 83811; -. [Q9P2G3-1]
DR ProteomicsDB; 83812; -. [Q9P2G3-2]
DR Antibodypedia; 8317; 169 antibodies from 22 providers.
DR DNASU; 57565; -.
DR Ensembl; ENST00000358095.4; ENSP00000350808.4; ENSG00000197705.10. [Q9P2G3-2]
DR Ensembl; ENST00000359358.9; ENSP00000352314.4; ENSG00000197705.10. [Q9P2G3-1]
DR GeneID; 57565; -.
DR KEGG; hsa:57565; -.
DR MANE-Select; ENST00000359358.9; ENSP00000352314.4; NM_020805.3; NP_065856.1.
DR UCSC; uc002kxm.2; human. [Q9P2G3-1]
DR CTD; 57565; -.
DR DisGeNET; 57565; -.
DR GeneCards; KLHL14; -.
DR HGNC; HGNC:29266; KLHL14.
DR HPA; ENSG00000197705; Tissue enhanced (seminal vesicle, thyroid gland).
DR MIM; 613772; gene.
DR neXtProt; NX_Q9P2G3; -.
DR OpenTargets; ENSG00000197705; -.
DR PharmGKB; PA134945930; -.
DR VEuPathDB; HostDB:ENSG00000197705; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000159556; -.
DR HOGENOM; CLU_004253_14_3_1; -.
DR InParanoid; Q9P2G3; -.
DR OMA; QITKLCV; -.
DR OrthoDB; 250404at2759; -.
DR PhylomeDB; Q9P2G3; -.
DR TreeFam; TF328485; -.
DR PathwayCommons; Q9P2G3; -.
DR SignaLink; Q9P2G3; -.
DR BioGRID-ORCS; 57565; 7 hits in 1107 CRISPR screens.
DR ChiTaRS; KLHL14; human.
DR GenomeRNAi; 57565; -.
DR Pharos; Q9P2G3; Tbio.
DR PRO; PR:Q9P2G3; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9P2G3; protein.
DR Bgee; ENSG00000197705; Expressed in oviduct epithelium and 113 other tissues.
DR ExpressionAtlas; Q9P2G3; baseline and differential.
DR Genevisible; Q9P2G3; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:HPA.
DR GO; GO:0016235; C:aggresome; IDA:HPA.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:MGI.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
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 Alternative splicing; Cytoplasm; Endoplasmic reticulum; Kelch repeat;
KW Membrane; Reference proteome; Repeat.
FT CHAIN 1..628
FT /note="Kelch-like protein 14"
FT /id="PRO_0000119117"
FT DOMAIN 33..151
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 210..279
FT /note="BACK"
FT REPEAT 323..372
FT /note="Kelch 1"
FT REPEAT 373..424
FT /note="Kelch 2"
FT REPEAT 425..471
FT /note="Kelch 3"
FT REPEAT 473..518
FT /note="Kelch 4"
FT REPEAT 520..570
FT /note="Kelch 5"
FT REPEAT 572..620
FT /note="Kelch 6"
FT REGION 69..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 92..106
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 358..388
FT /note="MPYNSAHHCVVEVENFLFVLGGEDQWNPNGK -> TGPHPISGKQESASSPE
FT FRRRKTREFSNNTM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041342"
FT VAR_SEQ 389..628
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041343"
SQ SEQUENCE 628 AA; 70714 MW; CF642DAA16F8A718 CRC64;
MSRSGDRTST FDPSHSDNLL HGLNLLWRKQ LFCDVTLTAQ GQQFHCHKAV LASCSQYFRS
LFSSHPPLGG GVGGQDGLGA PKDQQQPPQQ QPSQQQQPPP QEEPGTPSSS PDDKLLTSPR
AINNLVLQGC SSIGLRLVLE YLYTANVTLS LDTVEEVLSV SKILHIPQVT KLCVQFLNDQ
ISVQNYKQVC KIAALHGLEE TKKLANKYLV EDVLLLNFEE MRALLDSLPP PVESELALFQ
MSVLWLEHDR ETRMQYAPDL MKRLRFALIP APELVERVQS VDFMRTDPVC QKLLLDAMNY
HLMPFRQHCR QSLASRIRSN KKMLLLVGGL PPGPDRLPSN LVQYYDDEKK TWKILTIMPY
NSAHHCVVEV ENFLFVLGGE DQWNPNGKHS TNFVSRYDPR FNSWIQLPPM QERRASFYAC
RLDKHLYVIG GRNETGYLSS VECYNLETNE WRYVSSLPQP LAAHAGAVHN GKIYISGGVH
NGEYVPWLYC YDPVMDVWAR KQDMNTKRAI HTLAVMNDRL YAIGGNHLKG FSHLDVMLVE
CYDPKGDQWN ILQTPILEGR SGPGCAVLDD SIYLVGGYSW SMGAYKSSTI CYCPEKGTWT
ELEGDVAEPL AGPACVTVIL PSCVPYNK
