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Q6JEL2

- KLH10_HUMAN

UniProt

Q6JEL2 - KLH10_HUMAN

Protein

Kelch-like protein 10

Gene

KLHL10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis.

    Pathwayi

    GO - Biological processi

    1. cell morphogenesis Source: Ensembl
    2. fertilization Source: Ensembl
    3. homeostasis of number of cells within a tissue Source: Ensembl
    4. male genitalia morphogenesis Source: Ensembl
    5. male gonad development Source: Ensembl
    6. protein ubiquitination Source: UniProtKB-UniPathway
    7. spermatid development Source: Ensembl

    Keywords - Biological processi

    Differentiation, Spermatogenesis, Ubl conjugation pathway

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch-like protein 10
    Gene namesi
    Name:KLHL10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:18829. KLHL10.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Spermatogenic failure 11 (SPGF11) [MIM:615081]: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti216 – 2161Q → P in SPGF11; results in impaired self-association. 1 Publication
    VAR_069357
    Natural varianti313 – 3131A → T in SPGF11; results in impaired self-association. 1 Publication
    VAR_069358

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi615081. phenotype.
    PharmGKBiPA134969977.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 608608Kelch-like protein 10PRO_0000119112Add
    BLAST

    Proteomic databases

    PaxDbiQ6JEL2.
    PRIDEiQ6JEL2.

    PTM databases

    PhosphoSiteiQ6JEL2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6JEL2.
    BgeeiQ6JEL2.
    CleanExiHS_KLHL10.
    GenevestigatoriQ6JEL2.

    Interactioni

    Subunit structurei

    Self-associates Probable. Interacts with CUL3; indicative for the participation in an E3 ubiquitin ligase complex By similarity.By similarityCurated

    Protein-protein interaction databases

    BioGridi130451. 1 interaction.
    IntActiQ6JEL2. 4 interactions.
    STRINGi9606.ENSP00000293303.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6JEL2.
    SMRiQ6JEL2. Positions 25-264, 291-607.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini39 – 10668BTBPROSITE-ProRule annotationAdd
    BLAST
    Repeati292 – 33948Kelch 1Add
    BLAST
    Repeati340 – 38647Kelch 2Add
    BLAST
    Repeati388 – 43346Kelch 3Add
    BLAST
    Repeati434 – 48047Kelch 4Add
    BLAST
    Repeati481 – 52747Kelch 5Add
    BLAST
    Repeati529 – 57446Kelch 6Add
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 6 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG280629.
    HOGENOMiHOG000230814.
    HOVERGENiHBG103704.
    InParanoidiQ6JEL2.
    KOiK10448.
    OMAiKMSAMAC.
    PhylomeDBiQ6JEL2.
    TreeFamiTF329218.

    Family and domain databases

    Gene3Di2.130.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR006652. Kelch_1.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 5 hits.
    [Graphical view]
    PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6JEL2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEMESAAAST RFHQPHMERK MSAMACEIFN ELRLEGKLCD VVIKVNGFEF    50
    SAHKNILCSC SSYFRALFTS GWNNTEKKVY NIPGISPDMM KLIIEYAYTR 100
    TVPITPDNVE KLLAAADQFN IMGIVRGCCE FLKSELCLDN CIGICKFTDY 150
    YYCPELRQKA YMFILHNFEE MVKVSAEFLE LSVTELKDII EKDELNVKQE 200
    DAVFEAILKW ISHDPQNRKQ HISILLPKVR LALMHAEYFM NNVKMNDYVK 250
    DSEECKPVII NALKAMYDLN MNGPSNSDFT NPLTRPRLPY AILFAIGGWS 300
    GGSPTNAIEA YDARADRWVN VTCEEESPRA YHGAAYLKGY VYIIGGFDSV 350
    DYFNSVKRFD PVKKTWHQVA PMHSRRCYVS VTVLGNFIYA MGGFDGYVRL 400
    NTAERYEPET NQWTLIAPMH EQRSDASATT LYGKVYICGG FNGNECLFTA 450
    EVYNTESNQW TVIAPMRSRR SGIGVIAYGE HVYAVGGFDG ANRLRSAEAY 500
    SPVANTWRTI PTMFNPRSNF GIEVVDDLLF VVGGFNGFTT TFNVECYDEK 550
    TDEWYDAHDM SIYRSALSCC VVPGLANVEE YAARRDNFPG LALRDEVKYS 600
    ASTSTLPV 608
    Length:608
    Mass (Da):68,942
    Last modified:July 5, 2004 - v1
    Checksum:i669A5C3D46472915
    GO

    Sequence cautioni

    The sequence BAB71387.1 differs from that shown. Reason: Erroneous termination at position 609. Translated as stop.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti559 – 5591D → G in BAB71387. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti216 – 2161Q → P in SPGF11; results in impaired self-association. 1 Publication
    VAR_069357
    Natural varianti313 – 3131A → T in SPGF11; results in impaired self-association. 1 Publication
    VAR_069358

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY495339 mRNA. Translation: AAS91792.1.
    AK057224 mRNA. Translation: BAB71387.1. Sequence problems.
    CCDSiCCDS42340.1.
    RefSeqiNP_689680.2. NM_152467.3.
    UniGeneiHs.127510.

    Genome annotation databases

    EnsembliENST00000293303; ENSP00000293303; ENSG00000161594.
    GeneIDi317719.
    KEGGihsa:317719.
    UCSCiuc010cxr.3. human.

    Polymorphism databases

    DMDMi52783044.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY495339 mRNA. Translation: AAS91792.1 .
    AK057224 mRNA. Translation: BAB71387.1 . Sequence problems.
    CCDSi CCDS42340.1.
    RefSeqi NP_689680.2. NM_152467.3.
    UniGenei Hs.127510.

    3D structure databases

    ProteinModelPortali Q6JEL2.
    SMRi Q6JEL2. Positions 25-264, 291-607.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130451. 1 interaction.
    IntActi Q6JEL2. 4 interactions.
    STRINGi 9606.ENSP00000293303.

    PTM databases

    PhosphoSitei Q6JEL2.

    Polymorphism databases

    DMDMi 52783044.

    Proteomic databases

    PaxDbi Q6JEL2.
    PRIDEi Q6JEL2.

    Protocols and materials databases

    DNASUi 317719.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293303 ; ENSP00000293303 ; ENSG00000161594 .
    GeneIDi 317719.
    KEGGi hsa:317719.
    UCSCi uc010cxr.3. human.

    Organism-specific databases

    CTDi 317719.
    GeneCardsi GC17P039992.
    HGNCi HGNC:18829. KLHL10.
    MIMi 608778. gene.
    615081. phenotype.
    neXtProti NX_Q6JEL2.
    PharmGKBi PA134969977.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG280629.
    HOGENOMi HOG000230814.
    HOVERGENi HBG103704.
    InParanoidi Q6JEL2.
    KOi K10448.
    OMAi KMSAMAC.
    PhylomeDBi Q6JEL2.
    TreeFami TF329218.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GenomeRNAii 317719.
    NextBioi 96387.
    PROi Q6JEL2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6JEL2.
    Bgeei Q6JEL2.
    CleanExi HS_KLHL10.
    Genevestigatori Q6JEL2.

    Family and domain databases

    Gene3Di 2.130.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR006652. Kelch_1.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 5 hits.
    [Graphical view ]
    PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice."
      Yan W., Ma L., Burns K.H., Matzuk M.M.
      Proc. Natl. Acad. Sci. U.S.A. 101:7793-7798(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Testis.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    3. "Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization."
      Yatsenko A.N., Roy A., Chen R., Ma L., Murthy L.J., Yan W., Lamb D.J., Matzuk M.M.
      Hum. Mol. Genet. 15:3411-3419(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: SELF-ASSOCIATION, VARIANTS SPGF11 PRO-216 AND THR-313, CHARACTERIZATION OF VARIANTS SPGF11 PRO-216 AND THR-313.

    Entry informationi

    Entry nameiKLH10_HUMAN
    AccessioniPrimary (citable) accession number: Q6JEL2
    Secondary accession number(s): Q6NW28, Q96MC0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 27, 2004
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 93 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3