KLDC9_HUMAN
ID KLDC9_HUMAN Reviewed; 349 AA.
AC Q8NEP7; Q5SY56; Q6NXT9; Q6PKN4; Q8N5E1; Q8NA16;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-JAN-2005, sequence version 2.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Kelch domain-containing protein 9;
DE AltName: Full=Kelch/ankyrin repeat-containing cyclin A1-interacting protein;
GN Name=KLHDC9; Synonyms=KARCA1;
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 2), AND INTERACTION WITH CCNA1.
RX PubMed=15159402; DOI=10.1074/jbc.m401708200;
RA Diederichs S., Baeumer N., Ji P., Metzelder S.K., Idos G.E., Cauvet T.,
RA Wang W., Moeller M., Pierschalski S., Gromoll J., Schrader M.G.,
RA Koeffler H.P., Berdel W.E., Serve H., Mueller-Tidow C.;
RT "Identification of interaction partners and substrates of the cyclin A1-
RT CDK2 complex.";
RL J. Biol. Chem. 279:33727-33741(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP THR-282.
RC TISSUE=Pancreas, 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).
CC -!- SUBUNIT: Interacts with CCNA1. {ECO:0000269|PubMed:15159402}.
CC -!- INTERACTION:
CC Q8NEP7; O76003: GLRX3; NbExp=5; IntAct=EBI-12214879, EBI-374781;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8NEP7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NEP7-2; Sequence=VSP_027808, VSP_027810;
CC Name=3;
CC IsoId=Q8NEP7-3; Sequence=VSP_027807, VSP_027809;
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DR EMBL; AY601914; AAT09158.1; -; mRNA.
DR EMBL; AK093268; BAC04114.1; -; mRNA.
DR EMBL; AL591806; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW52659.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW52662.1; -; Genomic_DNA.
DR EMBL; BC022077; AAH22077.2; -; mRNA.
DR EMBL; BC032482; AAH32482.1; -; mRNA.
DR EMBL; BC066896; AAH66896.1; -; mRNA.
DR CCDS; CCDS30919.1; -. [Q8NEP7-1]
DR CCDS; CCDS41425.1; -. [Q8NEP7-2]
DR RefSeq; NP_001007256.1; NM_001007255.2. [Q8NEP7-2]
DR RefSeq; NP_689579.3; NM_152366.4. [Q8NEP7-1]
DR AlphaFoldDB; Q8NEP7; -.
DR SMR; Q8NEP7; -.
DR BioGRID; 126019; 37.
DR IntAct; Q8NEP7; 6.
DR STRING; 9606.ENSP00000356990; -.
DR iPTMnet; Q8NEP7; -.
DR PhosphoSitePlus; Q8NEP7; -.
DR BioMuta; KLHDC9; -.
DR DMDM; 74751256; -.
DR MassIVE; Q8NEP7; -.
DR PaxDb; Q8NEP7; -.
DR PeptideAtlas; Q8NEP7; -.
DR PRIDE; Q8NEP7; -.
DR ProteomicsDB; 73194; -. [Q8NEP7-1]
DR Antibodypedia; 34288; 77 antibodies from 15 providers.
DR DNASU; 126823; -.
DR Ensembl; ENST00000368011.9; ENSP00000356990.4; ENSG00000162755.14. [Q8NEP7-1]
DR Ensembl; ENST00000392192.6; ENSP00000376030.2; ENSG00000162755.14. [Q8NEP7-2]
DR GeneID; 126823; -.
DR KEGG; hsa:126823; -.
DR MANE-Select; ENST00000368011.9; ENSP00000356990.4; NM_152366.5; NP_689579.3.
DR UCSC; uc001fxr.4; human. [Q8NEP7-1]
DR CTD; 126823; -.
DR GeneCards; KLHDC9; -.
DR HGNC; HGNC:28489; KLHDC9.
DR HPA; ENSG00000162755; Tissue enriched (testis).
DR MIM; 617375; gene.
DR neXtProt; NX_Q8NEP7; -.
DR OpenTargets; ENSG00000162755; -.
DR PharmGKB; PA162393459; -.
DR VEuPathDB; HostDB:ENSG00000162755; -.
DR eggNOG; KOG0379; Eukaryota.
DR GeneTree; ENSGT00390000011582; -.
DR HOGENOM; CLU_068365_0_0_1; -.
DR InParanoid; Q8NEP7; -.
DR OMA; APHLMEQ; -.
DR OrthoDB; 933937at2759; -.
DR PhylomeDB; Q8NEP7; -.
DR TreeFam; TF337916; -.
DR PathwayCommons; Q8NEP7; -.
DR SignaLink; Q8NEP7; -.
DR BioGRID-ORCS; 126823; 9 hits in 1059 CRISPR screens.
DR ChiTaRS; KLHDC9; human.
DR GenomeRNAi; 126823; -.
DR Pharos; Q8NEP7; Tbio.
DR PRO; PR:Q8NEP7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8NEP7; protein.
DR Bgee; ENSG00000162755; Expressed in right testis and 144 other tissues.
DR Genevisible; Q8NEP7; HS.
DR GO; GO:0030332; F:cyclin binding; IPI:UniProtKB.
DR Gene3D; 2.120.10.80; -; 2.
DR InterPro; IPR011043; Gal_Oxase/kelch_b-propeller.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR042941; KLDC9.
DR PANTHER; PTHR47196; PTHR47196; 1.
DR SUPFAM; SSF50965; SSF50965; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..349
FT /note="Kelch domain-containing protein 9"
FT /id="PRO_0000300464"
FT REPEAT 39..89
FT /note="Kelch 1"
FT REPEAT 91..137
FT /note="Kelch 2"
FT REPEAT 325..349
FT /note="Kelch 3"
FT VAR_SEQ 176..263
FT /note="CYKQEGCHTASRSGHCAALLQTPGPHPGHQLLLFGGCNLAEPEVAGHWSHGK
FT IKEEPPVAPHLMEQLARLVSSGQGSQKGPHGLRHHS -> WYGTLRPKPFTLIHTLEKQ
FT KPKQISQAIYPPPHSSTLLPGEPTMFKLAELSTVLPSLLSHLPHCPMPLLHPSLARAVA
FT LTFSRKPTQP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027807"
FT VAR_SEQ 230..288
FT /note="EEPPVAPHLMEQLARLVSSGQGSQKGPHGLRHHSCSVVGPFAVLFGGETLTR
FT ARDTICN -> SFLSPQGGTTCCSSFDGTACKACEQWAGVPEGAPWTTASLMFCGRALC
FT CAVWWRNSDQS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15159402"
FT /id="VSP_027808"
FT VAR_SEQ 264..349
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027809"
FT VAR_SEQ 289..349
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15159402"
FT /id="VSP_027810"
FT VARIANT 171
FT /note="S -> R (in dbSNP:rs11576830)"
FT /id="VAR_034873"
FT VARIANT 282
FT /note="A -> T (in dbSNP:rs1128750)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_050056"
FT VARIANT 288
FT /note="N -> S (in dbSNP:rs1128750)"
FT /id="VAR_034874"
FT CONFLICT 83
FT /note="D -> G (in Ref. 2; BAC04114)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 349 AA; 37754 MW; 034F41898BDE0BBB CRC64;
MAVAVPPGRA AGSGWAWRPV ARDALLARAF HSCTELRGRF YLVGGLLAGG AREPSSDTVV
FDPARGQAVR LGARGSPPRS HHDAAPVDGR WLCVVGGWDG SRRLATVTAL DTERGVWEAW
TGTPGDCPPA GLSSHTCTRI SDRELQVAGR EGGIHTQRRY GSIYTLRLDP SARTYCYKQE
GCHTASRSGH CAALLQTPGP HPGHQLLLFG GCNLAEPEVA GHWSHGKIKE EPPVAPHLME
QLARLVSSGQ GSQKGPHGLR HHSCSVVGPF AVLFGGETLT RARDTICNDL YIYDTRTSPP
LWFHFPCADR GMKRMGHRTC LWNDQLYLVG GFGEDGRTAS PQVCILDFI
