KLD7B_HUMAN
ID KLD7B_HUMAN Reviewed; 594 AA.
AC Q96G42;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Kelch domain-containing protein 7B;
GN Name=KLHDC7B;
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].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
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 Q96G42; Q9NQ94: A1CF; NbExp=3; IntAct=EBI-9478422, EBI-2809489;
CC Q96G42; O14503: BHLHE40; NbExp=3; IntAct=EBI-9478422, EBI-711810;
CC Q96G42; Q86UW9: DTX2; NbExp=3; IntAct=EBI-9478422, EBI-740376;
CC Q96G42; Q6NXG1: ESRP1; NbExp=3; IntAct=EBI-9478422, EBI-10213520;
CC Q96G42; Q53EP0-3: FNDC3B; NbExp=3; IntAct=EBI-9478422, EBI-10242151;
CC Q96G42; Q9BUJ2: HNRNPUL1; NbExp=3; IntAct=EBI-9478422, EBI-1018153;
CC Q96G42; P0CW20: LIMS4; NbExp=3; IntAct=EBI-9478422, EBI-10196832;
CC Q96G42; Q9UPY8: MAPRE3; NbExp=3; IntAct=EBI-9478422, EBI-726739;
CC Q96G42; Q13952-2: NFYC; NbExp=3; IntAct=EBI-9478422, EBI-11956831;
CC Q96G42; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-9478422, EBI-11022007;
CC Q96G42; B7ZLY0: PHC2; NbExp=3; IntAct=EBI-9478422, EBI-14568740;
CC Q96G42; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-9478422, EBI-1389308;
CC Q96G42; Q2TAL8: QRICH1; NbExp=3; IntAct=EBI-9478422, EBI-2798044;
CC Q96G42; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-9478422, EBI-740343;
CC Q96G42; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-9478422, EBI-11987469;
CC Q96G42; Q9BQY4: RHOXF2; NbExp=3; IntAct=EBI-9478422, EBI-372094;
CC Q96G42; Q53HV7-2: SMUG1; NbExp=3; IntAct=EBI-9478422, EBI-12275818;
CC Q96G42; O95947: TBX6; NbExp=3; IntAct=EBI-9478422, EBI-2824328;
CC Q96G42; Q96LM6: TEX37; NbExp=3; IntAct=EBI-9478422, EBI-743976;
CC Q96G42; Q08117-2: TLE5; NbExp=3; IntAct=EBI-9478422, EBI-11741437;
CC Q96G42; Q12888: TP53BP1; NbExp=3; IntAct=EBI-9478422, EBI-396540;
CC Q96G42; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-9478422, EBI-12040603;
CC Q96G42; Q96K80: ZC3H10; NbExp=3; IntAct=EBI-9478422, EBI-742550;
CC -!- CAUTION: It is uncertain whether Met-1 or Met-100 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH09980.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; U62317; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009980; AAH09980.1; ALT_INIT; mRNA.
DR RefSeq; NP_612442.2; NM_138433.3.
DR AlphaFoldDB; Q96G42; -.
DR SMR; Q96G42; -.
DR BioGRID; 125257; 24.
DR IntAct; Q96G42; 25.
DR STRING; 9606.ENSP00000379034; -.
DR iPTMnet; Q96G42; -.
DR PhosphoSitePlus; Q96G42; -.
DR BioMuta; KLHDC7B; -.
DR DMDM; 296434567; -.
DR EPD; Q96G42; -.
DR jPOST; Q96G42; -.
DR MassIVE; Q96G42; -.
DR PaxDb; Q96G42; -.
DR PeptideAtlas; Q96G42; -.
DR PRIDE; Q96G42; -.
DR ProteomicsDB; 76592; -.
DR Antibodypedia; 237; 81 antibodies from 16 providers.
DR DNASU; 113730; -.
DR Ensembl; ENST00000395676.4; ENSP00000379034.2; ENSG00000130487.9.
DR GeneID; 113730; -.
DR KEGG; hsa:113730; -.
DR UCSC; uc003bmi.3; human.
DR CTD; 113730; -.
DR DisGeNET; 113730; -.
DR GeneCards; KLHDC7B; -.
DR HGNC; HGNC:25145; KLHDC7B.
DR HPA; ENSG00000130487; Tissue enhanced (lymphoid tissue, parathyroid gland).
DR neXtProt; NX_Q96G42; -.
DR OpenTargets; ENSG00000130487; -.
DR PharmGKB; PA142671582; -.
DR VEuPathDB; HostDB:ENSG00000130487; -.
DR eggNOG; KOG1072; Eukaryota.
DR GeneTree; ENSGT00940000163480; -.
DR HOGENOM; CLU_020313_0_0_1; -.
DR InParanoid; Q96G42; -.
DR OMA; LHWFGSG; -.
DR OrthoDB; 594274at2759; -.
DR PhylomeDB; Q96G42; -.
DR TreeFam; TF328485; -.
DR PathwayCommons; Q96G42; -.
DR SignaLink; Q96G42; -.
DR BioGRID-ORCS; 113730; 9 hits in 1067 CRISPR screens.
DR ChiTaRS; KLHDC7B; human.
DR GenomeRNAi; 113730; -.
DR Pharos; Q96G42; Tbio.
DR PRO; PR:Q96G42; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q96G42; protein.
DR Bgee; ENSG00000130487; Expressed in palpebral conjunctiva and 86 other tissues.
DR ExpressionAtlas; Q96G42; baseline and differential.
DR Genevisible; Q96G42; HS.
DR Gene3D; 2.120.10.80; -; 1.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR Pfam; PF01344; Kelch_1; 2.
DR SMART; SM00612; Kelch; 3.
DR SUPFAM; SSF117281; SSF117281; 1.
PE 1: Evidence at protein level;
KW Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..594
FT /note="Kelch domain-containing protein 7B"
FT /id="PRO_0000229000"
FT REPEAT 306..354
FT /note="Kelch 1"
FT REPEAT 355..405
FT /note="Kelch 2"
FT REPEAT 406..448
FT /note="Kelch 3"
FT REPEAT 451..493
FT /note="Kelch 4"
FT REPEAT 495..538
FT /note="Kelch 5"
FT REGION 1..174
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 26..50
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 100..114
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 594 AA; 63314 MW; 2C681C6B95567559 CRC64;
MVLRSHPFPR QDRPQGSVPR AVPGSPVGPS TSTHSEDRHG PSSSVGTVIG TGTGGLVEAG
GQPQPRSSET NGSPSPDPPP GLRGEGTREK SLDPLPQAAM PRGPAQPPAQ RPPGPAASSS
ARRSQPVPQL RKRSRCEIAP SSEQEVRPAA SGDPQGEAPG EGGSPAGRSG ALTEKQEEAR
KLMVFLQRPG GWGVVEGPRK PSSRALEPAT AAALRRRLDL GSCLDVLAFA QQHGEPGLAQ
ETYALMSDNL LRVLGDPCLY RRLSAADRER ILSLRTGRGR AVLGVLVLPS LYQGGRSGLP
RGPRGEEPPA AAPVSLPLPA HLHVFNPREN TWRPLTQVPE EAPLRGCGLC TMHNYLFLAG
GIRGSGAKAV CSNEVFCYNP LTNIWSQVRP MQQARAQLKL VALDGLLYAI GGECLYSMEC
YDPRTDAWTP RAPLPAGTFP VAHEAVACRG DIYVTGGHLF YRLLRYSPVK DAWDECPYSA
SHRRSSDIVA LGGFLYRFDL LRGVGAAVMR YNTVTGSWSR AASLPLPAPA PLHCTTLGNT
IYCLNPQVTA TFTVSGGTAQ FQAKELQPFP LGSTGVLSPF ILTLPPEDRL QTSL
