KLD8A_HUMAN
ID KLD8A_HUMAN Reviewed; 350 AA.
AC Q8IYD2; B3KU70; Q9NVG5;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Kelch domain-containing protein 8A;
DE AltName: Full=Substitute for delta-EGFR expression 1;
DE Short=S-delta-E1;
GN Name=KLHDC8A;
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].
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 [2]
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 [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].
RC TISSUE=Brain;
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 Q8IYD2; Q8IVD9: NUDCD3; NbExp=2; IntAct=EBI-9477915, EBI-744342;
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DR EMBL; AK001610; BAA91787.1; -; mRNA.
DR EMBL; AK096590; BAG53332.1; -; mRNA.
DR EMBL; AC098933; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098936; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91550.1; -; Genomic_DNA.
DR EMBL; BC036076; AAH36076.1; -; mRNA.
DR CCDS; CCDS30985.1; -.
DR RefSeq; NP_001258792.1; NM_001271863.1.
DR RefSeq; NP_001258793.1; NM_001271864.1.
DR RefSeq; NP_001258794.1; NM_001271865.1.
DR RefSeq; NP_060673.1; NM_018203.2.
DR AlphaFoldDB; Q8IYD2; -.
DR SMR; Q8IYD2; -.
DR BioGRID; 120516; 20.
DR IntAct; Q8IYD2; 17.
DR STRING; 9606.ENSP00000356124; -.
DR iPTMnet; Q8IYD2; -.
DR PhosphoSitePlus; Q8IYD2; -.
DR BioMuta; KLHDC8A; -.
DR DMDM; 296434568; -.
DR MassIVE; Q8IYD2; -.
DR PaxDb; Q8IYD2; -.
DR PeptideAtlas; Q8IYD2; -.
DR PRIDE; Q8IYD2; -.
DR ProteomicsDB; 71157; -.
DR Antibodypedia; 20678; 122 antibodies from 22 providers.
DR CPTC; Q8IYD2; 2 antibodies.
DR DNASU; 55220; -.
DR Ensembl; ENST00000367155.8; ENSP00000356123.3; ENSG00000162873.15.
DR Ensembl; ENST00000367156.7; ENSP00000356124.3; ENSG00000162873.15.
DR Ensembl; ENST00000539253.5; ENSP00000442229.1; ENSG00000162873.15.
DR GeneID; 55220; -.
DR KEGG; hsa:55220; -.
DR MANE-Select; ENST00000367155.8; ENSP00000356123.3; NM_018203.3; NP_060673.1.
DR UCSC; uc001hcf.3; human.
DR CTD; 55220; -.
DR GeneCards; KLHDC8A; -.
DR HGNC; HGNC:25573; KLHDC8A.
DR HPA; ENSG00000162873; Tissue enriched (ovary).
DR MIM; 614503; gene.
DR neXtProt; NX_Q8IYD2; -.
DR OpenTargets; ENSG00000162873; -.
DR PharmGKB; PA142671583; -.
DR VEuPathDB; HostDB:ENSG00000162873; -.
DR eggNOG; KOG1072; Eukaryota.
DR GeneTree; ENSGT00940000160742; -.
DR HOGENOM; CLU_046864_0_0_1; -.
DR InParanoid; Q8IYD2; -.
DR OMA; KWEVLPA; -.
DR OrthoDB; 1562595at2759; -.
DR PhylomeDB; Q8IYD2; -.
DR PathwayCommons; Q8IYD2; -.
DR SignaLink; Q8IYD2; -.
DR BioGRID-ORCS; 55220; 44 hits in 1068 CRISPR screens.
DR ChiTaRS; KLHDC8A; human.
DR GenomeRNAi; 55220; -.
DR Pharos; Q8IYD2; Tdark.
DR PRO; PR:Q8IYD2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8IYD2; protein.
DR Bgee; ENSG00000162873; Expressed in left ovary and 150 other tissues.
DR ExpressionAtlas; Q8IYD2; baseline and differential.
DR Genevisible; Q8IYD2; HS.
DR Gene3D; 2.120.10.80; -; 2.
DR InterPro; IPR011043; Gal_Oxase/kelch_b-propeller.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR Pfam; PF01344; Kelch_1; 3.
DR SMART; SM00612; Kelch; 5.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF50965; SSF50965; 1.
PE 1: Evidence at protein level;
KW Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..350
FT /note="Kelch domain-containing protein 8A"
FT /id="PRO_0000229001"
FT REPEAT 1..31
FT /note="Kelch 1"
FT REPEAT 32..79
FT /note="Kelch 2"
FT REPEAT 81..127
FT /note="Kelch 3"
FT REPEAT 128..175
FT /note="Kelch 4"
FT REPEAT 176..222
FT /note="Kelch 5"
FT REPEAT 224..278
FT /note="Kelch 6"
FT REPEAT 279..326
FT /note="Kelch 7"
FT CONFLICT 160
FT /note="P -> H (in Ref. 4; AAH36076)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 350 AA; 38859 MW; 18F980074F22074B CRC64;
MEVPNVKDFQ WKRLAPLPSR RVYCSLLETG GQVYAIGGCD DNGVPMDCFE VYSPEADQWT
ALPRLPTARA GVAVTALGKR IMVIGGVGTN QLPLKVVEMY NIDEGKWKKR SMLREAAMGI
SVTAKDYRVY AAGGMGLDLR PHNHLQHYDM LKDMWVSLAP MPTPRYAATS FLRGSKIYVL
GGRQSKYAVN AFEVFDIETR SWTKFPNIPY KRAFSSFVTL DNHLYSLGGL RQGRLYRQPK
FLRTMDVFDM EQGGWLKMER SFFLKKRRAD FVAGSLSGRV IVAGGLGNQP TVLETAEAFH
PGKNKWEILP AMPTPRCACS SIVVKNCLLA VGGVNQGLSD AVEALCVSDS
