KLH10_HUMAN
ID KLH10_HUMAN Reviewed; 608 AA.
AC Q6JEL2; Q6NW28; Q96MC0;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Kelch-like protein 10;
GN Name=KLHL10;
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=Testis;
RX PubMed=15136734; DOI=10.1073/pnas.0308025101;
RA Yan W., Ma L., Burns K.H., Matzuk M.M.;
RT "Haploinsufficiency of kelch-like protein homolog 10 causes infertility in
RT male mice.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:7793-7798(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [3]
RP SELF-ASSOCIATION, VARIANTS SPGF11 PRO-216 AND THR-313, AND CHARACTERIZATION
RP OF VARIANTS SPGF11 PRO-216 AND THR-313.
RX PubMed=17047026; DOI=10.1093/hmg/ddl417;
RA Yatsenko A.N., Roy A., Chen R., Ma L., Murthy L.J., Yan W., Lamb D.J.,
RA Matzuk M.M.;
RT "Non-invasive genetic diagnosis of male infertility using spermatozoal RNA:
RT KLHL10 mutations in oligozoospermic patients impair homodimerization.";
RL Hum. Mol. Genet. 15:3411-3419(2006).
CC -!- FUNCTION: May be a substrate-specific adapter of a CUL3-based E3
CC ubiquitin-protein ligase complex which mediates the ubiquitination and
CC subsequent proteasomal degradation of target proteins during
CC spermatogenesis.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- SUBUNIT: Self-associates (Probable). Interacts with CUL3; indicative
CC for the participation in an E3 ubiquitin ligase complex (By
CC similarity). {ECO:0000250, ECO:0000305}.
CC -!- INTERACTION:
CC Q6JEL2; Q9H4Y5: GSTO2; NbExp=3; IntAct=EBI-6426253, EBI-10194609;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- DISEASE: Spermatogenic failure 11 (SPGF11) [MIM:615081]: An infertility
CC disorder caused by spermatogenesis defects. It results in decreased
CC sperm motility, concentration, and multiple sperm structural defects.
CC Oligozoospermia is usually observed in SPGF11 patients. In addition to
CC oligozoospermia, teratozoospermia and moderate asthenozoospermia is
CC observed in some cases. {ECO:0000269|PubMed:17047026}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71387.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY495339; AAS91792.1; -; mRNA.
DR EMBL; AK057224; BAB71387.1; ALT_SEQ; mRNA.
DR CCDS; CCDS42340.1; -.
DR RefSeq; NP_001316524.1; NM_001329595.1.
DR RefSeq; NP_001316525.1; NM_001329596.1.
DR RefSeq; NP_689680.2; NM_152467.4.
DR AlphaFoldDB; Q6JEL2; -.
DR SMR; Q6JEL2; -.
DR BioGRID; 130451; 43.
DR IntAct; Q6JEL2; 37.
DR STRING; 9606.ENSP00000293303; -.
DR iPTMnet; Q6JEL2; -.
DR PhosphoSitePlus; Q6JEL2; -.
DR BioMuta; KLHL10; -.
DR DMDM; 52783044; -.
DR MassIVE; Q6JEL2; -.
DR PaxDb; Q6JEL2; -.
DR PeptideAtlas; Q6JEL2; -.
DR PRIDE; Q6JEL2; -.
DR ProteomicsDB; 66513; -.
DR Antibodypedia; 29004; 49 antibodies from 12 providers.
DR DNASU; 317719; -.
DR Ensembl; ENST00000293303.5; ENSP00000293303.4; ENSG00000161594.7.
DR GeneID; 317719; -.
DR KEGG; hsa:317719; -.
DR MANE-Select; ENST00000293303.5; ENSP00000293303.4; NM_152467.5; NP_689680.2.
DR UCSC; uc010cxr.4; human.
DR CTD; 317719; -.
DR DisGeNET; 317719; -.
DR GeneCards; KLHL10; -.
DR HGNC; HGNC:18829; KLHL10.
DR HPA; ENSG00000161594; Tissue enriched (testis).
DR MalaCards; KLHL10; -.
DR MIM; 608778; gene.
DR MIM; 615081; phenotype.
DR neXtProt; NX_Q6JEL2; -.
DR OpenTargets; ENSG00000161594; -.
DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR PharmGKB; PA134969977; -.
DR VEuPathDB; HostDB:ENSG00000161594; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000154664; -.
DR HOGENOM; CLU_004253_14_1_1; -.
DR InParanoid; Q6JEL2; -.
DR OMA; SRMCSGE; -.
DR OrthoDB; 277265at2759; -.
DR PhylomeDB; Q6JEL2; -.
DR TreeFam; TF329218; -.
DR PathwayCommons; Q6JEL2; -.
DR SignaLink; Q6JEL2; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 317719; 17 hits in 1105 CRISPR screens.
DR ChiTaRS; KLHL10; human.
DR GenomeRNAi; 317719; -.
DR Pharos; Q6JEL2; Tdark.
DR PRO; PR:Q6JEL2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6JEL2; protein.
DR Bgee; ENSG00000161594; Expressed in sperm and 91 other tissues.
DR ExpressionAtlas; Q6JEL2; baseline and differential.
DR Genevisible; Q6JEL2; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl.
DR GO; GO:0009566; P:fertilization; IEA:Ensembl.
DR GO; GO:0048873; P:homeostasis of number of cells within a tissue; IEA:Ensembl.
DR GO; GO:0048808; P:male genitalia morphogenesis; IEA:Ensembl.
DR GO; GO:0008584; P:male gonad development; IEA:Ensembl.
DR GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway.
DR GO; GO:0007286; P:spermatid development; IEA:Ensembl.
DR CDD; cd18240; BTB_POZ_KLHL10; 1.
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; IPR030608; KLHL10_BTB/POZ.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 6.
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 1: Evidence at protein level;
KW Cytoplasm; Differentiation; Disease variant; Kelch repeat; Phosphoprotein;
KW Reference proteome; Repeat; Spermatogenesis; Ubl conjugation pathway.
FT CHAIN 1..608
FT /note="Kelch-like protein 10"
FT /id="PRO_0000119112"
FT DOMAIN 39..106
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 292..339
FT /note="Kelch 1"
FT REPEAT 340..386
FT /note="Kelch 2"
FT REPEAT 388..433
FT /note="Kelch 3"
FT REPEAT 434..480
FT /note="Kelch 4"
FT REPEAT 481..527
FT /note="Kelch 5"
FT REPEAT 529..574
FT /note="Kelch 6"
FT MOD_RES 501
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6JEL3"
FT VARIANT 216
FT /note="Q -> P (in SPGF11; results in impaired self-
FT association; dbSNP:rs116420871)"
FT /evidence="ECO:0000269|PubMed:17047026"
FT /id="VAR_069357"
FT VARIANT 313
FT /note="A -> T (in SPGF11; results in impaired self-
FT association; dbSNP:rs370756367)"
FT /evidence="ECO:0000269|PubMed:17047026"
FT /id="VAR_069358"
FT CONFLICT 559
FT /note="D -> G (in Ref. 2; BAB71387)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 608 AA; 68942 MW; 669A5C3D46472915 CRC64;
MEMESAAAST RFHQPHMERK MSAMACEIFN ELRLEGKLCD VVIKVNGFEF SAHKNILCSC
SSYFRALFTS GWNNTEKKVY NIPGISPDMM KLIIEYAYTR TVPITPDNVE KLLAAADQFN
IMGIVRGCCE FLKSELCLDN CIGICKFTDY YYCPELRQKA YMFILHNFEE MVKVSAEFLE
LSVTELKDII EKDELNVKQE DAVFEAILKW ISHDPQNRKQ HISILLPKVR LALMHAEYFM
NNVKMNDYVK DSEECKPVII NALKAMYDLN MNGPSNSDFT NPLTRPRLPY AILFAIGGWS
GGSPTNAIEA YDARADRWVN VTCEEESPRA YHGAAYLKGY VYIIGGFDSV DYFNSVKRFD
PVKKTWHQVA PMHSRRCYVS VTVLGNFIYA MGGFDGYVRL NTAERYEPET NQWTLIAPMH
EQRSDASATT LYGKVYICGG FNGNECLFTA EVYNTESNQW TVIAPMRSRR SGIGVIAYGE
HVYAVGGFDG ANRLRSAEAY SPVANTWRTI PTMFNPRSNF GIEVVDDLLF VVGGFNGFTT
TFNVECYDEK TDEWYDAHDM SIYRSALSCC VVPGLANVEE YAARRDNFPG LALRDEVKYS
ASTSTLPV
