KLH38_HUMAN
ID KLH38_HUMAN Reviewed; 581 AA.
AC Q2WGJ6; A0PK12;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Kelch-like protein 38;
GN Name=KLHL38; Synonyms=C8orfK36;
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].
RC TISSUE=Heart, and Skeletal muscle;
RA Shimizu N., Asakawa S., Shimizu A., Yamazaki S., Ishikawa S.K.;
RT "Novel gene on human chromosome 8.";
RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS VAL-334 AND
RP LYS-346.
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 VARIANTS VAL-334 AND LYS-346.
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 Q2WGJ6; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-6426443, EBI-10173507;
CC Q2WGJ6; P18825: ADRA2C; NbExp=3; IntAct=EBI-6426443, EBI-12015266;
CC Q2WGJ6; O95994: AGR2; NbExp=3; IntAct=EBI-6426443, EBI-712648;
CC Q2WGJ6; Q8WXK4-2: ASB12; NbExp=3; IntAct=EBI-6426443, EBI-18394052;
CC Q2WGJ6; Q6PI77: BHLHB9; NbExp=3; IntAct=EBI-6426443, EBI-11519926;
CC Q2WGJ6; Q9H2G9: BLZF1; NbExp=8; IntAct=EBI-6426443, EBI-2548012;
CC Q2WGJ6; Q9H5F2: C11orf1; NbExp=3; IntAct=EBI-6426443, EBI-718615;
CC Q2WGJ6; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-6426443, EBI-12261896;
CC Q2WGJ6; P27918: CFP; NbExp=3; IntAct=EBI-6426443, EBI-9038570;
CC Q2WGJ6; P78358: CTAG1B; NbExp=5; IntAct=EBI-6426443, EBI-1188472;
CC Q2WGJ6; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-6426443, EBI-3867333;
CC Q2WGJ6; Q99766-3: DMAC2L; NbExp=3; IntAct=EBI-6426443, EBI-13309711;
CC Q2WGJ6; Q16610: ECM1; NbExp=3; IntAct=EBI-6426443, EBI-947964;
CC Q2WGJ6; Q9C0B1-2: FTO; NbExp=3; IntAct=EBI-6426443, EBI-18138793;
CC Q2WGJ6; Q9NYA3: GOLGA6A; NbExp=3; IntAct=EBI-6426443, EBI-11163335;
CC Q2WGJ6; O15499: GSC2; NbExp=3; IntAct=EBI-6426443, EBI-19954058;
CC Q2WGJ6; Q9BSH5: HDHD3; NbExp=3; IntAct=EBI-6426443, EBI-745201;
CC Q2WGJ6; P08238: HSP90AB1; NbExp=3; IntAct=EBI-6426443, EBI-352572;
CC Q2WGJ6; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-6426443, EBI-747204;
CC Q2WGJ6; Q9BS75: KLHL20; NbExp=3; IntAct=EBI-6426443, EBI-10693436;
CC Q2WGJ6; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-6426443, EBI-3044087;
CC Q2WGJ6; Q15323: KRT31; NbExp=6; IntAct=EBI-6426443, EBI-948001;
CC Q2WGJ6; O76011: KRT34; NbExp=5; IntAct=EBI-6426443, EBI-1047093;
CC Q2WGJ6; Q92764: KRT35; NbExp=3; IntAct=EBI-6426443, EBI-1058674;
CC Q2WGJ6; O76015: KRT38; NbExp=6; IntAct=EBI-6426443, EBI-1047263;
CC Q2WGJ6; Q6A163: KRT39; NbExp=3; IntAct=EBI-6426443, EBI-11958242;
CC Q2WGJ6; Q6A162: KRT40; NbExp=3; IntAct=EBI-6426443, EBI-10171697;
CC Q2WGJ6; P78386: KRT85; NbExp=3; IntAct=EBI-6426443, EBI-1049371;
CC Q2WGJ6; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-6426443, EBI-11959885;
CC Q2WGJ6; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-6426443, EBI-11749135;
CC Q2WGJ6; P60409: KRTAP10-7; NbExp=6; IntAct=EBI-6426443, EBI-10172290;
CC Q2WGJ6; P60410: KRTAP10-8; NbExp=6; IntAct=EBI-6426443, EBI-10171774;
CC Q2WGJ6; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-6426443, EBI-10172052;
CC Q2WGJ6; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-6426443, EBI-1052037;
CC Q2WGJ6; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-6426443, EBI-11953846;
CC Q2WGJ6; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-6426443, EBI-14065470;
CC Q2WGJ6; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-6426443, EBI-3957694;
CC Q2WGJ6; Q9BYQ6: KRTAP4-11; NbExp=3; IntAct=EBI-6426443, EBI-10302392;
CC Q2WGJ6; P26371: KRTAP5-9; NbExp=6; IntAct=EBI-6426443, EBI-3958099;
CC Q2WGJ6; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-6426443, EBI-11962084;
CC Q2WGJ6; Q9BYQ4: KRTAP9-2; NbExp=5; IntAct=EBI-6426443, EBI-1044640;
CC Q2WGJ6; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-6426443, EBI-1043191;
CC Q2WGJ6; Q9BYQ0: KRTAP9-8; NbExp=5; IntAct=EBI-6426443, EBI-11958364;
CC Q2WGJ6; Q9UBR4-2: LHX3; NbExp=3; IntAct=EBI-6426443, EBI-12039345;
CC Q2WGJ6; Q969G2: LHX4; NbExp=3; IntAct=EBI-6426443, EBI-2865388;
CC Q2WGJ6; P43360: MAGEA6; NbExp=6; IntAct=EBI-6426443, EBI-1045155;
CC Q2WGJ6; Q99750: MDFI; NbExp=3; IntAct=EBI-6426443, EBI-724076;
CC Q2WGJ6; P50222: MEOX2; NbExp=3; IntAct=EBI-6426443, EBI-748397;
CC Q2WGJ6; Q13064: MKRN3; NbExp=3; IntAct=EBI-6426443, EBI-2340269;
CC Q2WGJ6; Q6PF18: MORN3; NbExp=3; IntAct=EBI-6426443, EBI-9675802;
CC Q2WGJ6; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-6426443, EBI-945833;
CC Q2WGJ6; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-6426443, EBI-22310682;
CC Q2WGJ6; Q8IVD9: NUDCD3; NbExp=2; IntAct=EBI-6426443, EBI-744342;
CC Q2WGJ6; O43482: OIP5; NbExp=3; IntAct=EBI-6426443, EBI-536879;
CC Q2WGJ6; Q02548: PAX5; NbExp=3; IntAct=EBI-6426443, EBI-296331;
CC Q2WGJ6; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-6426443, EBI-10302990;
CC Q2WGJ6; Q99471: PFDN5; NbExp=3; IntAct=EBI-6426443, EBI-357275;
CC Q2WGJ6; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-6426443, EBI-769257;
CC Q2WGJ6; Q8WVV4-1: POF1B; NbExp=3; IntAct=EBI-6426443, EBI-11986735;
CC Q2WGJ6; Q16633: POU2AF1; NbExp=3; IntAct=EBI-6426443, EBI-943588;
CC Q2WGJ6; O76081: RGS20; NbExp=3; IntAct=EBI-6426443, EBI-1052678;
CC Q2WGJ6; O76081-6: RGS20; NbExp=3; IntAct=EBI-6426443, EBI-10178530;
CC Q2WGJ6; Q2I0M5: RSPO4; NbExp=3; IntAct=EBI-6426443, EBI-12821217;
CC Q2WGJ6; Q16348: SLC15A2; NbExp=3; IntAct=EBI-6426443, EBI-12806032;
CC Q2WGJ6; Q9C004: SPRY4; NbExp=3; IntAct=EBI-6426443, EBI-354861;
CC Q2WGJ6; Q9Y6A5: TACC3; NbExp=4; IntAct=EBI-6426443, EBI-2554984;
CC Q2WGJ6; O75478: TADA2A; NbExp=3; IntAct=EBI-6426443, EBI-742268;
CC Q2WGJ6; P15884-3: TCF4; NbExp=3; IntAct=EBI-6426443, EBI-13636688;
CC Q2WGJ6; Q969V4: TEKT1; NbExp=3; IntAct=EBI-6426443, EBI-10180409;
CC Q2WGJ6; Q96M29: TEKT5; NbExp=3; IntAct=EBI-6426443, EBI-10239812;
CC Q2WGJ6; Q96A09: TENT5B; NbExp=3; IntAct=EBI-6426443, EBI-752030;
CC Q2WGJ6; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-6426443, EBI-11139477;
CC Q2WGJ6; Q9Y5J6: TIMM10B; NbExp=3; IntAct=EBI-6426443, EBI-1200382;
CC Q2WGJ6; Q13077: TRAF1; NbExp=3; IntAct=EBI-6426443, EBI-359224;
CC Q2WGJ6; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-6426443, EBI-492476;
CC Q2WGJ6; Q8IWZ5: TRIM42; NbExp=6; IntAct=EBI-6426443, EBI-5235829;
CC Q2WGJ6; Q9BYV2: TRIM54; NbExp=6; IntAct=EBI-6426443, EBI-2130429;
CC Q2WGJ6; Q86WT6-2: TRIM69; NbExp=3; IntAct=EBI-6426443, EBI-11525489;
CC Q2WGJ6; Q6PKC3: TXNDC11; NbExp=3; IntAct=EBI-6426443, EBI-749812;
CC Q2WGJ6; Q05086-2: UBE3A; NbExp=3; IntAct=EBI-6426443, EBI-10175863;
CC Q2WGJ6; Q8N6Y0: USHBP1; NbExp=6; IntAct=EBI-6426443, EBI-739895;
CC Q2WGJ6; Q8TCV5: WFDC5; NbExp=3; IntAct=EBI-6426443, EBI-12175871;
CC Q2WGJ6; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-6426443, EBI-12040603;
CC Q2WGJ6; Q9BYN7: ZNF341; NbExp=3; IntAct=EBI-6426443, EBI-9089622;
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DR EMBL; AB196636; BAE53438.1; -; mRNA.
DR EMBL; AC135166; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471060; EAW92045.1; -; Genomic_DNA.
DR EMBL; BC127886; AAI27887.1; -; mRNA.
DR CCDS; CCDS43766.1; -.
DR RefSeq; NP_001075144.2; NM_001081675.2.
DR RefSeq; XP_005250958.1; XM_005250901.4.
DR AlphaFoldDB; Q2WGJ6; -.
DR SMR; Q2WGJ6; -.
DR BioGRID; 131043; 91.
DR IntAct; Q2WGJ6; 96.
DR STRING; 9606.ENSP00000321475; -.
DR iPTMnet; Q2WGJ6; -.
DR PhosphoSitePlus; Q2WGJ6; -.
DR BioMuta; KLHL38; -.
DR DMDM; 296439315; -.
DR EPD; Q2WGJ6; -.
DR PaxDb; Q2WGJ6; -.
DR PeptideAtlas; Q2WGJ6; -.
DR PRIDE; Q2WGJ6; -.
DR ProteomicsDB; 61535; -.
DR Antibodypedia; 27017; 99 antibodies from 15 providers.
DR DNASU; 340359; -.
DR Ensembl; ENST00000325995.7; ENSP00000321475.7; ENSG00000175946.9.
DR Ensembl; ENST00000684634.1; ENSP00000508228.1; ENSG00000175946.9.
DR GeneID; 340359; -.
DR KEGG; hsa:340359; -.
DR MANE-Select; ENST00000684634.1; ENSP00000508228.1; NM_001081675.3; NP_001075144.2.
DR UCSC; uc003yqs.2; human.
DR CTD; 340359; -.
DR GeneCards; KLHL38; -.
DR HGNC; HGNC:34435; KLHL38.
DR HPA; ENSG00000175946; Tissue enhanced (heart muscle, skeletal muscle, tongue).
DR neXtProt; NX_Q2WGJ6; -.
DR OpenTargets; ENSG00000175946; -.
DR PharmGKB; PA162393613; -.
DR VEuPathDB; HostDB:ENSG00000175946; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000157647; -.
DR HOGENOM; CLU_004253_14_6_1; -.
DR InParanoid; Q2WGJ6; -.
DR OMA; CLTLQCV; -.
DR OrthoDB; 292812at2759; -.
DR PhylomeDB; Q2WGJ6; -.
DR TreeFam; TF329218; -.
DR PathwayCommons; Q2WGJ6; -.
DR SignaLink; Q2WGJ6; -.
DR BioGRID-ORCS; 340359; 15 hits in 1106 CRISPR screens.
DR GenomeRNAi; 340359; -.
DR Pharos; Q2WGJ6; Tdark.
DR PRO; PR:Q2WGJ6; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q2WGJ6; protein.
DR Bgee; ENSG00000175946; Expressed in skeletal muscle tissue and 72 other tissues.
DR Gene3D; 2.120.10.80; -; 2.
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; IPR030568; KLHL38.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR24412:SF462; PTHR24412:SF462; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 2.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 5.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..581
FT /note="Kelch-like protein 38"
FT /id="PRO_0000325809"
FT DOMAIN 34..101
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 136..237
FT /note="BACK"
FT REPEAT 285..332
FT /note="Kelch 1"
FT REPEAT 334..383
FT /note="Kelch 2"
FT REPEAT 384..431
FT /note="Kelch 3"
FT REPEAT 433..479
FT /note="Kelch 4"
FT REPEAT 480..521
FT /note="Kelch 5"
FT REPEAT 523..573
FT /note="Kelch 6"
FT VARIANT 310
FT /note="G -> S (in dbSNP:rs16898693)"
FT /id="VAR_059437"
FT VARIANT 334
FT /note="I -> V (in dbSNP:rs11784192)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_060485"
FT VARIANT 346
FT /note="R -> K (in dbSNP:rs11780509)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_060486"
FT VARIANT 352
FT /note="N -> Y (in dbSNP:rs11784175)"
FT /id="VAR_059438"
FT VARIANT 394
FT /note="G -> R (in dbSNP:rs16898691)"
FT /id="VAR_059439"
FT VARIANT 504
FT /note="C -> Y (in dbSNP:rs11779866)"
FT /id="VAR_059440"
FT CONFLICT 98
FT /note="H -> R (in Ref. 3; EAW92045 and 4; AAI27887)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 581 AA; 65541 MW; C6655BD039F4C757 CRC64;
MDEESLDGLL FKDHDFSSDL LRQLNSLRQS RILTDVSICA GAREIPCHRN VLASSSPYFR
AMFCSSFREK SEAKVQLKGI DPPTLDQIVS YVYTGEAHIA TDNVLPVMEA ASMLQFPKLF
EACSSYLQSQ LAPSNCLGMI RLSEILSCET LKKKAREVAL TSFPEVAASA DLKELCALEL
RDYLGDDGLC GEEEKVFEAL MVWIKHDLQA RKRYMQELFK QVRLQYIHPA FFHHFIANDA
LLQSSPACQI ILETAKRQMF SLCGTTVPDC KLLLHVPPRN SYQDFLILLG GRKDSQQTTR
DVLLYSKQTG QWQSLAKLPT RLYKASAITL HRSIYVLGGM AVSSGRSLVS HNVYIFSLKL
NQWRLGEPML VARYSHRSTA HKNFIFSIGG IGEGQELMGS MERYDSICNV WESMASMPVG
VLHPAVAVKD QRLYLFGGED IMQNPVRLIQ VYHISRNSWF KMETRMIKNV CAPAVVLGER
IVIVGGYTRR ILAYDPQSNK FVKCADMKDR RMHHGATVMG NKLYVTGGRR LTTDCNIEDS
ASFDCYDPET DTWTSQGQLP HKLFDHACLT LQCIPRTSGL P
