ID KLDC4_HUMAN Reviewed; 520 AA.
AC Q8TBB5; D3DUN3; D3DUN4; D3DUN5; Q96F29; Q9BVN3;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 24-JAN-2024, entry version 155.
DE RecName: Full=Kelch domain-containing protein 4;
GN Name=KLHDC4;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP ILE-102.
RC TISSUE=Cervix, Placenta, and Uterus;
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 [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient
RT phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-413 AND SER-418, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-418, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- INTERACTION:
CC Q8TBB5; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-8472352, EBI-742887;
CC Q8TBB5; O60341: KDM1A; NbExp=2; IntAct=EBI-8472352, EBI-710124;
CC Q8TBB5; O43463: SUV39H1; NbExp=2; IntAct=EBI-8472352, EBI-349968;
CC Q8TBB5; Q9H5I1: SUV39H2; NbExp=2; IntAct=EBI-8472352, EBI-723127;
CC Q8TBB5; P54274: TERF1; NbExp=2; IntAct=EBI-8472352, EBI-710997;
CC Q8TBB5-2; P55212: CASP6; NbExp=3; IntAct=EBI-21838933, EBI-718729;
CC Q8TBB5-2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-21838933, EBI-21591415;
CC Q8TBB5-2; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-21838933, EBI-5280197;
CC Q8TBB5-2; P62826: RAN; NbExp=3; IntAct=EBI-21838933, EBI-286642;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TBB5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TBB5-2; Sequence=VSP_017728;
CC Name=3;
CC IsoId=Q8TBB5-3; Sequence=VSP_017729;
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DR EMBL; CH471114; EAW95377.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95378.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95379.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95381.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95382.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95383.1; -; Genomic_DNA.
DR EMBL; BC001044; AAH01044.1; -; mRNA.
DR EMBL; BC011680; AAH11680.1; -; mRNA.
DR EMBL; BC022969; AAH22969.1; -; mRNA.
DR CCDS; CCDS10963.1; -. [Q8TBB5-1]
DR CCDS; CCDS54050.1; -. [Q8TBB5-2]
DR CCDS; CCDS54051.1; -. [Q8TBB5-3]
DR RefSeq; NP_001171783.1; NM_001184854.1. [Q8TBB5-2]
DR RefSeq; NP_001171785.1; NM_001184856.1. [Q8TBB5-3]
DR RefSeq; NP_060036.2; NM_017566.3. [Q8TBB5-1]
DR RefSeq; XP_005256051.1; XM_005255994.3.
DR RefSeq; XP_016878833.1; XM_017023344.1.
DR AlphaFoldDB; Q8TBB5; -.
DR SMR; Q8TBB5; -.
DR BioGRID; 120134; 36.
DR IntAct; Q8TBB5; 19.
DR MINT; Q8TBB5; -.
DR STRING; 9606.ENSP00000270583; -.
DR GlyGen; Q8TBB5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8TBB5; -.
DR PhosphoSitePlus; Q8TBB5; -.
DR BioMuta; KLHDC4; -.
DR DMDM; 74730447; -.
DR EPD; Q8TBB5; -.
DR jPOST; Q8TBB5; -.
DR MassIVE; Q8TBB5; -.
DR MaxQB; Q8TBB5; -.
DR PaxDb; 9606-ENSP00000270583; -.
DR PeptideAtlas; Q8TBB5; -.
DR ProteomicsDB; 73984; -. [Q8TBB5-1]
DR ProteomicsDB; 73985; -. [Q8TBB5-2]
DR ProteomicsDB; 73986; -. [Q8TBB5-3]
DR Pumba; Q8TBB5; -.
DR Antibodypedia; 30690; 178 antibodies from 26 providers.
DR DNASU; 54758; -.
DR Ensembl; ENST00000270583.10; ENSP00000270583.4; ENSG00000104731.14. [Q8TBB5-1]
DR Ensembl; ENST00000347925.9; ENSP00000325717.5; ENSG00000104731.14. [Q8TBB5-3]
DR Ensembl; ENST00000353170.9; ENSP00000262530.5; ENSG00000104731.14. [Q8TBB5-2]
DR Ensembl; ENST00000567298.5; ENSP00000457570.1; ENSG00000104731.14. [Q8TBB5-1]
DR GeneID; 54758; -.
DR KEGG; hsa:54758; -.
DR MANE-Select; ENST00000270583.10; ENSP00000270583.4; NM_017566.4; NP_060036.2.
DR UCSC; uc002fki.4; human. [Q8TBB5-1]
DR AGR; HGNC:25272; -.
DR CTD; 54758; -.
DR DisGeNET; 54758; -.
DR GeneCards; KLHDC4; -.
DR HGNC; HGNC:25272; KLHDC4.
DR HPA; ENSG00000104731; Low tissue specificity.
DR MIM; 620518; gene.
DR neXtProt; NX_Q8TBB5; -.
DR OpenTargets; ENSG00000104731; -.
DR PharmGKB; PA134914472; -.
DR VEuPathDB; HostDB:ENSG00000104731; -.
DR eggNOG; KOG1230; Eukaryota.
DR GeneTree; ENSGT00390000003374; -.
DR HOGENOM; CLU_008722_3_1_1; -.
DR InParanoid; Q8TBB5; -.
DR OMA; PSPRVGC; -.
DR OrthoDB; 5481217at2759; -.
DR PhylomeDB; Q8TBB5; -.
DR TreeFam; TF323290; -.
DR PathwayCommons; Q8TBB5; -.
DR SignaLink; Q8TBB5; -.
DR BioGRID-ORCS; 54758; 11 hits in 1153 CRISPR screens.
DR ChiTaRS; KLHDC4; human.
DR GenomeRNAi; 54758; -.
DR Pharos; Q8TBB5; Tdark.
DR PRO; PR:Q8TBB5; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8TBB5; Protein.
DR Bgee; ENSG00000104731; Expressed in sural nerve and 129 other cell types or tissues.
DR ExpressionAtlas; Q8TBB5; baseline and differential.
DR Genevisible; Q8TBB5; HS.
DR Gene3D; 2.120.10.80; Kelch-type beta propeller; 2.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR PANTHER; PTHR46063; KELCH DOMAIN-CONTAINING PROTEIN; 1.
DR PANTHER; PTHR46063:SF1; KELCH DOMAIN-CONTAINING PROTEIN 4; 1.
DR Pfam; PF13415; Kelch_3; 2.
DR Pfam; PF13418; Kelch_4; 1.
DR SUPFAM; SSF117281; Kelch motif; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Kelch repeat; Phosphoprotein; Reference proteome;
KW Repeat.
FT CHAIN 1..520
FT /note="Kelch domain-containing protein 4"
FT /id="PRO_0000228998"
FT REPEAT 77..129
FT /note="Kelch 1"
FT REPEAT 133..187
FT /note="Kelch 2"
FT REPEAT 188..241
FT /note="Kelch 3"
FT REPEAT 243..289
FT /note="Kelch 4"
FT REPEAT 308..361
FT /note="Kelch 5"
FT REPEAT 443..494
FT /note="Kelch 6"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 346..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 402..432
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 481..520
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 11..33
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 483..520
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 413
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 418
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:18220336, ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT VAR_SEQ 34..90
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017728"
FT VAR_SEQ 170..200
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017729"
FT VARIANT 56
FT /note="L -> V (in dbSNP:rs2303772)"
FT /id="VAR_033986"
FT VARIANT 102
FT /note="T -> I (in dbSNP:rs2303771)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_050054"
FT VARIANT 130
FT /note="G -> V (in dbSNP:rs34779002)"
FT /id="VAR_061340"
FT VARIANT 155
FT /note="L -> V (in dbSNP:rs3751727)"
FT /id="VAR_033987"
SQ SEQUENCE 520 AA; 57892 MW; 0DD22CB9FEBD5A72 CRC64;
MGKKGKKEKK GRGAEKTAAK MEKKVSKRSR KEEEDLEALI AHFQTLDAKR TQTVELPCPP
PSPRLNASLS VHPEKDELIL FGGEYFNGQK TFLYNELYVY NTRKDTWTKV DIPSPPPRRC
AHQAVVVPQG GGQLWVFGGE FASPNGEQFY HYKDLWVLHL ATKTWEQVKS TGGPSGRSGH
RMVAWKRQLI LFGGFHESTR DYIYYNDVYA FNLDTFTWSK LSPSGTGPTP RSGCQMSVTP
QGGIVVYGGY SKQRVKKDVD KGTRHSDMFL LKPEDGREDK WVWTRMNPSG VKPTPRSGFS
VAMAPNHQTL FFGGVCDEEE EESLSGEFFN DLYFYDATRN RWFEGQLKGP KSEKKKRRRG
RKEEPEGGSR PACGGAGTQG PVQLVKEVVA EDGTVVTIKQ VLTAPGSAGQ PRSEDEDSLE
EAGSPAPGPC PRSNAMLAVK HGVLYVYGGM FEAGDRQVTL SDLHCLDLHR MEAWKALVEM
DPETQEWLEE TDSEEDSEEV EGAEGGVDDE DSGEESGAED
//
