Q8IXQ5 · KLHL7_HUMAN
- ProteinKelch-like protein 7
- GeneKLHL7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids586 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.
Pathway
Protein modification; protein ubiquitination.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | Cul3-RING ubiquitin ligase complex | |
Cellular Component | cytosol | |
Cellular Component | nucleolus | |
Cellular Component | nucleoplasm | |
Cellular Component | perinuclear region of cytoplasm | |
Cellular Component | plasma membrane | |
Molecular Function | identical protein binding | |
Molecular Function | protein homodimerization activity | |
Biological Process | protein ubiquitination |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameKelch-like protein 7
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8IXQ5
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Perching syndrome (PERCHING)
- Note
- DescriptionAn autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating.
- See alsoMIM:617055
Natural variants in PERCHING
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_077161 | 372 | R>Q | in PERCHING; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3; dbSNP:rs879255558 | |
VAR_077162 | 420 | R>C | in PERCHING; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3; dbSNP:rs780705654 | |
VAR_077163 | 421 | C>S | in PERCHING; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3; dbSNP:rs879255556 |
Retinitis pigmentosa 42 (RP42)
- Note
- DescriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
- See alsoMIM:612943
Natural variants in RP42
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_060672 | 150 | S>N | in RP42; dbSNP:rs137853112 | |
VAR_060673 | 153 | A>T | in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex; dbSNP:rs137853114 | |
VAR_060674 | 153 | A>V | in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex; dbSNP:rs137853113 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_082842 | 18 | In isoform Q8IXQ5-2; in dbSNP:rs17147682 | |||
Sequence: K → R | ||||||
Natural variant | VAR_060672 | 150 | in RP42; dbSNP:rs137853112 | |||
Sequence: S → N | ||||||
Natural variant | VAR_060673 | 153 | in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex; dbSNP:rs137853114 | |||
Sequence: A → T | ||||||
Natural variant | VAR_060674 | 153 | in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex; dbSNP:rs137853113 | |||
Sequence: A → V | ||||||
Natural variant | VAR_060675 | 255 | in a patient with retinitis pigmentosa; uncertain significance; dbSNP:rs1227070758 | |||
Sequence: D → N | ||||||
Natural variant | VAR_077161 | 372 | in PERCHING; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3; dbSNP:rs879255558 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_077162 | 420 | in PERCHING; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3; dbSNP:rs780705654 | |||
Sequence: R → C | ||||||
Natural variant | VAR_077163 | 421 | in PERCHING; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3; dbSNP:rs879255556 | |||
Sequence: C → S | ||||||
Natural variant | VAR_060676 | 423 | ||||
Sequence: H → Y | ||||||
Natural variant | VAR_060677 | 472 | in a patient with retinitis pigmentosa; uncertain significance | |||
Sequence: K → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 429 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000228988 | 1-586 | Kelch-like protein 7 | |||
Sequence: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVKDKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET |
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8IXQ5 | CUL3 Q13618 | 13 | EBI-6153160, EBI-456129 | |
BINARY | Q8IXQ5 | KLHL7 Q8IXQ5 | 7 | EBI-6153160, EBI-6153160 | |
BINARY | Q8IXQ5-4 | VHL P40337-2 | 3 | EBI-25895859, EBI-12157263 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 44-111 | BTB | ||||
Sequence: CDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNS | ||||||
Domain | 146-248 | BACK | ||||
Sequence: CLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQ | ||||||
Repeat | 294-336 | Kelch 1 | ||||
Sequence: RIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDN | ||||||
Repeat | 337-382 | Kelch 2 | ||||
Sequence: VVYILGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSLAACAAEG | ||||||
Repeat | 383-430 | Kelch 3 | ||||
Sequence: KIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQRCSHGMVEANG | ||||||
Repeat | 431-481 | Kelch 4 | ||||
Sequence: LIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVKD | ||||||
Repeat | 483-528 | Kelch 5 | ||||
Sequence: IFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGS | ||||||
Repeat | 530-575 | Kelch 6 | ||||
Sequence: VYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVD |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 5 isoforms produced by Alternative splicing.
Q8IXQ5-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length586
- Mass (Da)65,992
- Last updated2006-10-17 v2
- ChecksumFA4ED8F1567AC7A8
Q8IXQ5-2
- Name2
- Differences from canonical
- 1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK
Q8IXQ5-3
- Name3
Q8IXQ5-4
- Name4
Q8IXQ5-5
- Name5
- Differences from canonical
- 1-48: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_038416 | 1-40 | in isoform 2 and isoform 4 | |||
Sequence: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK | ||||||
Alternative sequence | VSP_046974 | 1-48 | in isoform 5 | |||
Sequence: Missing | ||||||
Sequence conflict | 85 | in Ref. 8; AAH39585 | ||||
Sequence: V → L | ||||||
Sequence conflict | 138 | in Ref. 3; BAB71175 | ||||
Sequence: K → R | ||||||
Alternative sequence | VSP_038417 | 149-166 | in isoform 3 and isoform 4 | |||
Sequence: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV | ||||||
Alternative sequence | VSP_038418 | 167-586 | in isoform 3 and isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 507 | in Ref. 3; BAH12925 | ||||
Sequence: E → D |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF111113 EMBL· GenBank· DDBJ | AAF27196.1 EMBL· GenBank· DDBJ | mRNA | ||
AL136597 EMBL· GenBank· DDBJ | CAB66532.1 EMBL· GenBank· DDBJ | mRNA | ||
AK056390 EMBL· GenBank· DDBJ | BAB71175.1 EMBL· GenBank· DDBJ | mRNA | ||
AK299006 EMBL· GenBank· DDBJ | BAH12925.1 EMBL· GenBank· DDBJ | mRNA | ||
EF560731 EMBL· GenBank· DDBJ | ABQ59041.1 EMBL· GenBank· DDBJ | mRNA | ||
AC005082 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC006039 EMBL· GenBank· DDBJ | AAO21916.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC073992 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH236948 EMBL· GenBank· DDBJ | EAL24261.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471073 EMBL· GenBank· DDBJ | EAW93770.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471073 EMBL· GenBank· DDBJ | EAW93773.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471073 EMBL· GenBank· DDBJ | EAW93774.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC009555 EMBL· GenBank· DDBJ | AAH09555.1 EMBL· GenBank· DDBJ | mRNA | ||
BC039585 EMBL· GenBank· DDBJ | AAH39585.1 EMBL· GenBank· DDBJ | mRNA |