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   27-MAR-2024, entry version 171.
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   ComplexPortal; CPX-8091; CRL3 E3 ubiquitin ligase complex, KLHL14 variant.
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; 9606-ENSP00000352314; -.
DR   PeptideAtlas; Q9P2G3; -.
DR   ProteomicsDB; 83811; -. [Q9P2G3-1]
DR   ProteomicsDB; 83812; -. [Q9P2G3-2]
DR   Antibodypedia; 8317; 178 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   AGR; HGNC:29266; -.
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; RETRMQH; -.
DR   OrthoDB; 5472491at2759; -.
DR   PhylomeDB; Q9P2G3; -.
DR   TreeFam; TF328485; -.
DR   PathwayCommons; Q9P2G3; -.
DR   SignaLink; Q9P2G3; -.
DR   BioGRID-ORCS; 57565; 8 hits in 1185 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 115 other cell types or tissues.
DR   ExpressionAtlas; Q9P2G3; baseline and differential.
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   CDD; cd18453; BACK_KLHL14; 1.
DR   CDD; cd18243; BTB_POZ_KLHL14_printor; 1.
DR   Gene3D; 1.25.40.420; -; 1.
DR   Gene3D; 2.120.10.80; Kelch-type beta propeller; 2.
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; IPR047027; KLHL14_BACK.
DR   InterPro; IPR030584; KLHL14_BTB_POZ.
DR   InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR   PANTHER; PTHR45632:SF6; KELCH-LIKE PROTEIN 14; 1.
DR   PANTHER; PTHR45632; LD33804P; 1.
DR   Pfam; PF07707; BACK; 1.
DR   Pfam; PF00651; BTB; 2.
DR   Pfam; PF01344; Kelch_1; 5.
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; Kelch motif; 1.
DR   SUPFAM; SSF54695; POZ domain; 1.
DR   PROSITE; PS50097; BTB; 1.
DR   Genevisible; Q9P2G3; HS.
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
//