KLH31_HUMAN
ID KLH31_HUMAN Reviewed; 634 AA.
AC Q9H511; A6N9J2; B2RP49;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Kelch-like protein 31;
DE AltName: Full=BTB and kelch domain-containing protein 6;
DE AltName: Full=Kelch repeat and BTB domain-containing protein 1;
DE AltName: Full=Kelch-like protein KLHL;
GN Name=KLHL31; Synonyms=BKLHD6, KBTBD1, KLHL;
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], FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Embryonic heart;
RX PubMed=18719355;
RA Yu W., Li Y., Zhou X., Deng Y., Wang Z., Yuan W., Li D., Zhu C., Zhao X.,
RA Mo X., Huang W., Luo N., Yan Y., Ocorr K., Bodmer R., Wang Y., Wu X.;
RT "A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and
RT heart, inhibits transcriptional activities of TRE and SRE.";
RL Mol. Cells 26:443-453(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-156.
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], AND VARIANT ILE-156.
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 IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=15302408; DOI=10.1016/j.gene.2004.05.016;
RA Wu Y.L., Gong Z.;
RT "A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display
RT conserved expression patterns in skeletal and cardiac muscles.";
RL Gene 338:75-83(2004).
CC -!- FUNCTION: Transcriptional repressor in MAPK/JNK signaling pathway to
CC regulate cellular functions. Overexpression inhibits the
CC transcriptional activities of both the TPA-response element (TRE) and
CC serum response element (SRE). {ECO:0000269|PubMed:18719355}.
CC -!- TISSUE SPECIFICITY: Strongly expressed in skeletal muscle and weakly in
CC heart. According to PubMed:15302408, not expressed in other tissues.
CC According to PubMed:18719355, abundantly expressed in both embryonic
CC skeletal and heart tissues. {ECO:0000269|PubMed:15302408,
CC ECO:0000269|PubMed:18719355}.
CC -!- PTM: N-terminus is methylated by METTL11A/NTM1. {ECO:0000250}.
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DR EMBL; EF633513; ABR23528.1; -; mRNA.
DR EMBL; AL157773; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX04428.1; -; Genomic_DNA.
DR EMBL; BC137267; AAI37268.1; -; mRNA.
DR EMBL; BC137269; AAI37270.1; -; mRNA.
DR CCDS; CCDS34478.1; -.
DR RefSeq; NP_001003760.2; NM_001003760.4.
DR RefSeq; XP_005249164.1; XM_005249107.4.
DR RefSeq; XP_016866347.1; XM_017010858.1.
DR AlphaFoldDB; Q9H511; -.
DR SMR; Q9H511; -.
DR IntAct; Q9H511; 1.
DR STRING; 9606.ENSP00000359942; -.
DR iPTMnet; Q9H511; -.
DR PhosphoSitePlus; Q9H511; -.
DR BioMuta; KLHL31; -.
DR DMDM; 74752656; -.
DR MassIVE; Q9H511; -.
DR PaxDb; Q9H511; -.
DR PeptideAtlas; Q9H511; -.
DR PRIDE; Q9H511; -.
DR ProteomicsDB; 80888; -.
DR Antibodypedia; 2404; 70 antibodies from 20 providers.
DR DNASU; 401265; -.
DR Ensembl; ENST00000370905.4; ENSP00000359942.3; ENSG00000124743.6.
DR Ensembl; ENST00000407079.1; ENSP00000384644.1; ENSG00000124743.6.
DR GeneID; 401265; -.
DR KEGG; hsa:401265; -.
DR MANE-Select; ENST00000370905.4; ENSP00000359942.3; NM_001003760.5; NP_001003760.2.
DR UCSC; uc003pcb.4; human.
DR CTD; 401265; -.
DR DisGeNET; 401265; -.
DR GeneCards; KLHL31; -.
DR HGNC; HGNC:21353; KLHL31.
DR HPA; ENSG00000124743; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR MIM; 610749; gene.
DR neXtProt; NX_Q9H511; -.
DR OpenTargets; ENSG00000124743; -.
DR PharmGKB; PA162393541; -.
DR VEuPathDB; HostDB:ENSG00000124743; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158352; -.
DR HOGENOM; CLU_004253_14_3_1; -.
DR InParanoid; Q9H511; -.
DR OMA; MPNSVTR; -.
DR OrthoDB; 250404at2759; -.
DR PhylomeDB; Q9H511; -.
DR TreeFam; TF328485; -.
DR PathwayCommons; Q9H511; -.
DR SignaLink; Q9H511; -.
DR BioGRID-ORCS; 401265; 12 hits in 1108 CRISPR screens.
DR ChiTaRS; KLHL31; human.
DR GenomeRNAi; 401265; -.
DR Pharos; Q9H511; Tbio.
DR PRO; PR:Q9H511; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9H511; protein.
DR Bgee; ENSG00000124743; Expressed in left ventricle myocardium and 112 other tissues.
DR Genevisible; Q9H511; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0046329; P:negative regulation of JNK cascade; IMP:UniProtKB.
DR GO; GO:0001933; P:negative regulation of protein phosphorylation; IMP:UniProtKB.
DR Gene3D; 2.120.10.80; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
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; IPR030604; KLHL31.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR45632:SF17; PTHR45632:SF17; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 4.
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; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Kelch repeat; Methylation; Reference proteome; Repeat; Repressor;
KW Transcription; Transcription regulation.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:Q8BWA5"
FT CHAIN 2..634
FT /note="Kelch-like protein 31"
FT /id="PRO_0000271035"
FT DOMAIN 73..137
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 172..273
FT /note="BACK"
FT REPEAT 317..365
FT /note="Kelch 1"
FT REPEAT 366..419
FT /note="Kelch 2"
FT REPEAT 420..466
FT /note="Kelch 3"
FT REPEAT 468..513
FT /note="Kelch 4"
FT REPEAT 515..565
FT /note="Kelch 5"
FT REPEAT 567..614
FT /note="Kelch 6"
FT MOD_RES 2
FT /note="N,N,N-trimethylalanine"
FT /evidence="ECO:0000250|UniProtKB:Q8BWA5"
FT VARIANT 11
FT /note="N -> S (in dbSNP:rs6908377)"
FT /id="VAR_050050"
FT VARIANT 156
FT /note="V -> I (in dbSNP:rs3799260)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_050051"
FT VARIANT 508
FT /note="A -> T (in dbSNP:rs3799261)"
FT /id="VAR_050052"
SQ SEQUENCE 634 AA; 70246 MW; E9099A93864CFC02 CRC64;
MAPKKKIVKK NKGDINEMTI IVEDSPLNKL NALNGLLEGG NGLSCISSEL TDASYGPNLL
EGLSKMRQEN FLCDLVIGTK TKSFDVHKSV MASCSEYFYN ILKKDPSIQR VDLNDISPLG
LATVIAYAYT GKLTLSLYTI GSIISAAVYL QIHTLVKMCS DFLIREMSVE NCMYVVNIAE
TYSLKNAKAA AQKFIRDNFL EFAESDQFMK LTFEQINELL IDDDLQLPSE IVAFQIAMKW
LEFDQKRVKY AADLLSNIRF GTISAQDLVN YVQSVPRMMQ DADCHRLLVD AMNYHLLPYH
QNTLQSRRTR IRGGCRVLVT VGGRPGLTEK SLSRDILYRD PENGWSKLTE MPAKSFNQCV
AVMDGFLYVA GGEDQNDARN QAKHAVSNFC RYDPRFNTWI HLASMNQKRT HFSLSVFNGL
VYAAGGRNAE GSLASLECYV PSTNQWQPKT PLEVARCCHA SAVADGRVLV TGGYIANAYS
RSVCAYDPAS DSWQELPNLS TPRGWHCAVT LSDRVYVMGG SQLGPRGERV DVLTVECYSP
ATGQWSYAAP LQVGVSTAGV SALHGRAYLV GGWNEGEKKY KKCIQCFSPE LNEWTEDDEL
PEATVGVSCC TLSMPNNVTR ESRASSVSSV PVSI
