Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q6JEL2

- KLH10_HUMAN

UniProt

Q6JEL2 - KLH10_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Kelch-like protein 10

Gene

KLHL10

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

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
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: Chromosome 17

Organism-specific databases

HGNCiHGNC:18829. KLHL10.

Subcellular locationi

Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ6JEL2.
CleanExiHS_KLHL10.
ExpressionAtlasiQ6JEL2. baseline and differential.
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, 291-606.
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.
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

        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.

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, 291-606.
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.
GeneTreei ENSGT00760000118931.
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

Bgeei Q6JEL2.
CleanExi HS_KLHL10.
ExpressionAtlasi Q6JEL2. baseline and differential.
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

« 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: October 29, 2014
This is version 94 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