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Protein

Kelch-like protein 10

Gene

KLHL10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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.

Pathway:iprotein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18829. KLHL10.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 11 (SPGF11)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:615081
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.

Polymorphism and mutation databases

BioMutaiKLHL10.
DMDMi52783044.

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

BgeeiQ6JEL2.
CleanExiHS_KLHL10.
ExpressionAtlasiQ6JEL2. baseline and differential.
GenevisibleiQ6JEL2. HS.

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, 291-606.
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.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG103704.
InParanoidiQ6JEL2.
KOiK10448.
OMAiIYITGGF.
PhylomeDBiQ6JEL2.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
IPR030608. KLHL10.
[Graphical view]
PANTHERiPTHR24412:SF165. PTHR24412:SF165. 1 hit.
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

        10         20         30         40         50
MEMESAAAST RFHQPHMERK MSAMACEIFN ELRLEGKLCD VVIKVNGFEF
60 70 80 90 100
SAHKNILCSC SSYFRALFTS GWNNTEKKVY NIPGISPDMM KLIIEYAYTR
110 120 130 140 150
TVPITPDNVE KLLAAADQFN IMGIVRGCCE FLKSELCLDN CIGICKFTDY
160 170 180 190 200
YYCPELRQKA YMFILHNFEE MVKVSAEFLE LSVTELKDII EKDELNVKQE
210 220 230 240 250
DAVFEAILKW ISHDPQNRKQ HISILLPKVR LALMHAEYFM NNVKMNDYVK
260 270 280 290 300
DSEECKPVII NALKAMYDLN MNGPSNSDFT NPLTRPRLPY AILFAIGGWS
310 320 330 340 350
GGSPTNAIEA YDARADRWVN VTCEEESPRA YHGAAYLKGY VYIIGGFDSV
360 370 380 390 400
DYFNSVKRFD PVKKTWHQVA PMHSRRCYVS VTVLGNFIYA MGGFDGYVRL
410 420 430 440 450
NTAERYEPET NQWTLIAPMH EQRSDASATT LYGKVYICGG FNGNECLFTA
460 470 480 490 500
EVYNTESNQW TVIAPMRSRR SGIGVIAYGE HVYAVGGFDG ANRLRSAEAY
510 520 530 540 550
SPVANTWRTI PTMFNPRSNF GIEVVDDLLF VVGGFNGFTT TFNVECYDEK
560 570 580 590 600
TDEWYDAHDM SIYRSALSCC VVPGLANVEE YAARRDNFPG LALRDEVKYS

ASTSTLPV
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.Curated

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:
EMBLi
GenBanki
DDBJi
Links Updated
AY495339 mRNA. Translation: AAS91792.1.
AK057224 mRNA. Translation: BAB71387.1. Sequence problems.
CCDSiCCDS42340.1.
RefSeqiNP_689680.2. NM_152467.3.
XP_011523008.1. XM_011524706.1.
UniGeneiHs.127510.

Genome annotation databases

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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY495339 mRNA. Translation: AAS91792.1.
AK057224 mRNA. Translation: BAB71387.1. Sequence problems.
CCDSiCCDS42340.1.
RefSeqiNP_689680.2. NM_152467.3.
XP_011523008.1. XM_011524706.1.
UniGeneiHs.127510.

3D structure databases

ProteinModelPortaliQ6JEL2.
SMRiQ6JEL2. Positions 25-264, 291-606.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ6JEL2.

Polymorphism and mutation databases

BioMutaiKLHL10.
DMDMi52783044.

Proteomic databases

PaxDbiQ6JEL2.
PRIDEiQ6JEL2.

Protocols and materials databases

DNASUi317719.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi317719.
GeneCardsiGC17P039992.
HGNCiHGNC:18829. KLHL10.
MIMi608778. gene.
615081. phenotype.
neXtProtiNX_Q6JEL2.
PharmGKBiPA134969977.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG280629.
GeneTreeiENSGT00760000118931.
HOGENOMiHOG000230814.
HOVERGENiHBG103704.
InParanoidiQ6JEL2.
KOiK10448.
OMAiIYITGGF.
PhylomeDBiQ6JEL2.
TreeFamiTF329218.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

ChiTaRSiKLHL10. human.
GenomeRNAii317719.
NextBioi96387.
PROiQ6JEL2.
SOURCEiSearch...

Gene expression databases

BgeeiQ6JEL2.
CleanExiHS_KLHL10.
ExpressionAtlasiQ6JEL2. baseline and differential.
GenevisibleiQ6JEL2. HS.

Family and domain databases

Gene3Di2.130.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR015916. Gal_Oxidase_b-propeller.
IPR006652. Kelch_1.
IPR030608. KLHL10.
[Graphical view]
PANTHERiPTHR24412:SF165. PTHR24412:SF165. 1 hit.
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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: July 22, 2015
This is version 101 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.