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Q6JEL2 (KLH10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Kelch-like protein 10
Gene names
Name:KLHL10
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length608 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Protein modification; protein ubiquitination.

Subunit structure

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

Subcellular location

Cytoplasm By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Contains 1 BTB (POZ) domain.

Contains 6 Kelch repeats.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 608608Kelch-like protein 10
PRO_0000119112

Regions

Domain39 – 10668BTB
Repeat292 – 33948Kelch 1
Repeat340 – 38647Kelch 2
Repeat388 – 43346Kelch 3
Repeat434 – 48047Kelch 4
Repeat481 – 52747Kelch 5
Repeat529 – 57446Kelch 6

Natural variations

Natural variant2161Q → P in SPGF11; results in impaired self-association. Ref.3
VAR_069357
Natural variant3131A → T in SPGF11; results in impaired self-association. Ref.3
VAR_069358

Experimental info

Sequence conflict5591D → G in BAB71387. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q6JEL2 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 669A5C3D46472915

FASTA60868,942
        10         20         30         40         50         60 
MEMESAAAST RFHQPHMERK MSAMACEIFN ELRLEGKLCD VVIKVNGFEF SAHKNILCSC 

        70         80         90        100        110        120 
SSYFRALFTS GWNNTEKKVY NIPGISPDMM KLIIEYAYTR TVPITPDNVE KLLAAADQFN 

       130        140        150        160        170        180 
IMGIVRGCCE FLKSELCLDN CIGICKFTDY YYCPELRQKA YMFILHNFEE MVKVSAEFLE 

       190        200        210        220        230        240 
LSVTELKDII EKDELNVKQE DAVFEAILKW ISHDPQNRKQ HISILLPKVR LALMHAEYFM 

       250        260        270        280        290        300 
NNVKMNDYVK DSEECKPVII NALKAMYDLN MNGPSNSDFT NPLTRPRLPY AILFAIGGWS 

       310        320        330        340        350        360 
GGSPTNAIEA YDARADRWVN VTCEEESPRA YHGAAYLKGY VYIIGGFDSV DYFNSVKRFD 

       370        380        390        400        410        420 
PVKKTWHQVA PMHSRRCYVS VTVLGNFIYA MGGFDGYVRL NTAERYEPET NQWTLIAPMH 

       430        440        450        460        470        480 
EQRSDASATT LYGKVYICGG FNGNECLFTA EVYNTESNQW TVIAPMRSRR SGIGVIAYGE 

       490        500        510        520        530        540 
HVYAVGGFDG ANRLRSAEAY SPVANTWRTI PTMFNPRSNF GIEVVDDLLF VVGGFNGFTT 

       550        560        570        580        590        600 
TFNVECYDEK TDEWYDAHDM SIYRSALSCC VVPGLANVEE YAARRDNFPG LALRDEVKYS 


ASTSTLPV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY495339 mRNA. Translation: AAS91792.1.
AK057224 mRNA. Translation: BAB71387.1. Sequence problems.
RefSeqNP_689680.2. NM_152467.3.
UniGeneHs.127510.

3D structure databases

ProteinModelPortalQ6JEL2.
SMRQ6JEL2. Positions 25-264, 291-604.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid130451. 1 interaction.
IntActQ6JEL2. 2 interactions.
STRING9606.ENSP00000293303.

PTM databases

PhosphoSiteQ6JEL2.

Polymorphism databases

DMDM52783044.

Proteomic databases

PaxDbQ6JEL2.
PRIDEQ6JEL2.

Protocols and materials databases

DNASU317719.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293303; ENSP00000293303; ENSG00000161594.
ENST00000568725; ENSP00000454897; ENSG00000261631.
GeneID317719.
KEGGhsa:317719.
UCSCuc010cxr.3. human.

Organism-specific databases

CTD317719.
GeneCardsGC17P039992.
HGNCHGNC:18829. KLHL10.
MIM608778. gene.
615081. phenotype.
neXtProtNX_Q6JEL2.
PharmGKBPA134969977.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280629.
HOGENOMHOG000230814.
HOVERGENHBG103704.
InParanoidQ6JEL2.
KOK10448.
OMAKMSAMAC.
PhylomeDBQ6JEL2.
TreeFamTF329218.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ6JEL2.
BgeeQ6JEL2.
CleanExHS_KLHL10.
GenevestigatorQ6JEL2.

Family and domain databases

Gene3D2.130.10.80. 1 hit.
3.30.710.10. 1 hit.
InterProIPR011705. 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]
PfamPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 5 hits.
[Graphical view]
PIRSFPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMSSF54695. SSF54695. 1 hit.
PROSITEPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi317719.
NextBio96387.
PROQ6JEL2.
SOURCESearch...

Entry information

Entry nameKLH10_HUMAN
AccessionPrimary (citable) accession number: Q6JEL2
Secondary accession number(s): Q6NW28, Q96MC0
Entry history
Integrated into UniProtKB/Swiss-Prot: September 27, 2004
Last sequence update: July 5, 2004
Last modified: March 19, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM