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Aliases for KLHL7 Gene

Aliases for KLHL7 Gene

  • Kelch Like Family Member 7 2 3 5
  • Kelch-Like 7 (Drosophila) 2
  • Retinitis Pigmentosa 42 2
  • Kelch-Like Protein 7 3
  • Kelch-Like 6 3
  • Kelch-Like 7 3
  • Kelch/BTB 3
  • SBBI26 3
  • CISS3 3
  • KLHL6 3

External Ids for KLHL7 Gene

Previous GeneCards Identifiers for KLHL7 Gene

  • GC00U991218
  • GC07P022888
  • GC07P022918
  • GC07P023111
  • GC07P023029
  • GC07P023145

Summaries for KLHL7 Gene

Entrez Gene Summary for KLHL7 Gene

  • This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

GeneCards Summary for KLHL7 Gene

KLHL7 (Kelch Like Family Member 7) is a Protein Coding gene. Diseases associated with KLHL7 include Retinitis Pigmentosa 42 and Cold-Induced Sweating Syndrome 3. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is IPP.

UniProtKB/Swiss-Prot for KLHL7 Gene

  • 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.

Gene Wiki entry for KLHL7 Gene

Additional gene information for KLHL7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL7 Gene

Genomics for KLHL7 Gene

Regulatory Elements for KLHL7 Gene

Enhancers for KLHL7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H023104 1.1 ENCODE 8.8 +0.6 634 2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 DEK SP3 KLHL7-AS1 NUPL2 FAM126A KLHL7 AK3P3
GH07H023291 1 dbSUPER 7.2 +188.4 188397 4 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 SLC30A9 SP5 MXD4 MIER2 KLHL7-AS1 IGF2BP3 LOC389473 KLHL7 MALSU1 GPNMB
GH07H023246 0.8 ENCODE 7.3 +141.7 141709 2 ZMYM3 ZNF316 POLR2A EED SCRT2 FOSL2 FOS RCOR1 IKZF2 TCF7L2 KLHL7-AS1 IGF2BP3 LOC389473 KLHL7 ENSG00000226816 GPNMB MALSU1
GH07H023396 0.5 ENCODE 5.5 +291.0 291018 1 JUND POLR2A ZSCAN4 ZNF398 ZKSCAN1 KLHL7-AS1 KLHL7 SNORD65C GC07M023312
GH07H023117 0.4 ENCODE 5.6 +12.5 12470 0 FEZF1 KLHL7-AS1 KLHL7 AK3P3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLHL7 on UCSC Golden Path with GeneCards custom track

Promoters for KLHL7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000209468 566 2601 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 DEK SP3

Genomic Location for KLHL7 Gene

Chromosome:
7
Start:
23,105,734 bp from pter
End:
23,177,914 bp from pter
Size:
72,181 bases
Orientation:
Plus strand

Genomic View for KLHL7 Gene

Genes around KLHL7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL7 Gene

Proteins for KLHL7 Gene

  • Protein details for KLHL7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXQ5-KLHL7_HUMAN
    Recommended name:
    Kelch-like protein 7
    Protein Accession:
    Q8IXQ5
    Secondary Accessions:
    • A4D144
    • B7Z5I9
    • G5E9G3
    • Q7Z765
    • Q96MV2
    • Q9BQF8
    • Q9UDQ9

    Protein attributes for KLHL7 Gene

    Size:
    586 amino acids
    Molecular mass:
    65992 Da
    Quaternary structure:
    • Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.

    Three dimensional structures from OCA and Proteopedia for KLHL7 Gene

    Alternative splice isoforms for KLHL7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL7 Gene

Post-translational modifications for KLHL7 Gene

  • Ubiquitination at posLast=261261, isoforms=2, 5517, and posLast=560560
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KLHL7 Gene

Domains & Families for KLHL7 Gene

Gene Families for KLHL7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KLHL7: view

No data available for UniProtKB/Swiss-Prot for KLHL7 Gene

Function for KLHL7 Gene

Molecular function for KLHL7 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for KLHL7 Gene

Gene Ontology (GO) - Molecular Function for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 21828050
GO:0042802 identical protein binding IPI 21828050
GO:0042803 protein homodimerization activity IDA 21828050
genes like me logo Genes that share ontologies with KLHL7: view
genes like me logo Genes that share phenotypes with KLHL7: view

Human Phenotype Ontology for KLHL7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KLHL7
  • Applied Biological Materials Clones for KLHL7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL7 Gene

Localization for KLHL7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL7 Gene

Nucleus. Cytoplasm. Note=Colocalizes with CUL3 in punctate structures at the perinuclear region of the cytoplasm. {ECO:0000269 PubMed:27392078}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLHL7 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with KLHL7: view

Pathways & Interactions for KLHL7 Gene

SuperPathways for KLHL7 Gene

No Data Available

UniProtKB/Swiss-Prot Q8IXQ5-KLHL7_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for KLHL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KLHL7: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL7 Gene

Drugs & Compounds for KLHL7 Gene

No Compound Related Data Available

Transcripts for KLHL7 Gene

Unigene Clusters for KLHL7 Gene

Kelch-like family member 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KLHL7
  • Applied Biological Materials Clones for KLHL7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
SP1: - - -
SP2:
SP3: -
SP4: - - - - - - - - -
SP5: - - -
SP6:
SP7:
SP8:

Relevant External Links for KLHL7 Gene

GeneLoc Exon Structure for
KLHL7
ECgene alternative splicing isoforms for
KLHL7

Expression for KLHL7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLHL7 Gene

mRNA differential expression in normal tissues according to GTEx for KLHL7 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.9).

Protein differential expression in normal tissues from HIPED for KLHL7 Gene

This gene is overexpressed in Testis (50.2) and Ovary (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLHL7 Gene



Protein tissue co-expression partners for KLHL7 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLHL7 Gene:

KLHL7

SOURCE GeneReport for Unigene cluster for KLHL7 Gene:

Hs.654817

mRNA Expression by UniProt/SwissProt for KLHL7 Gene:

Q8IXQ5-KLHL7_HUMAN
Tissue specificity: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.

Evidence on tissue expression from TISSUES for KLHL7 Gene

  • Nervous system(4.9)
  • Skin(4.2)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KLHL7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with KLHL7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KLHL7 Gene

Orthologs for KLHL7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL7 33 34
  • 99.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL7 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL7 33 34
  • 94.49 (n)
cow
(Bos Taurus)
Mammalia KLHL7 33 34
  • 93.97 (n)
oppossum
(Monodelphis domestica)
Mammalia KLHL7 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl7 33 16 34
  • 91.24 (n)
rat
(Rattus norvegicus)
Mammalia Klhl7 33
  • 89.53 (n)
chicken
(Gallus gallus)
Aves KLHL7 33 34
  • 84.98 (n)
lizard
(Anolis carolinensis)
Reptilia KLHL7 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl7 33
  • 80.42 (n)
Str.1353 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7658 33
zebrafish
(Danio rerio)
Actinopterygii zgc:63520 33
  • 70.01 (n)
KLHL7 34
  • 59 (a)
OneToOne
zgc63520 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5646 34
  • 27 (a)
OneToOne
Species where no ortholog for KLHL7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL7 Gene

ENSEMBL:
Gene Tree for KLHL7 (if available)
TreeFam:
Gene Tree for KLHL7 (if available)

Paralogs for KLHL7 Gene

Paralogs for KLHL7 Gene

genes like me logo Genes that share paralogs with KLHL7: view

Variants for KLHL7 Gene

Sequence variations from dbSNP and Humsavar for KLHL7 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs137853112 Pathogenic, Retinitis pigmentosa 42 (RP42) [MIM:612943] 23,140,775(+) TATAA(A/G)TGTGC nc-transcript-variant, reference, missense
rs137853113 Pathogenic, Retinitis pigmentosa 42 (RP42) [MIM:612943] 23,140,784(+) GCTAG(C/T)GGAGT nc-transcript-variant, reference, missense
rs137853114 Pathogenic, Retinitis pigmentosa 42 (RP42) [MIM:612943] 23,140,783(+) TGCTA(A/G)CGGAG nc-transcript-variant, reference, missense
rs780705654 Cold-induced sweating syndrome 3 (CISS3) [MIM:617055] 23,167,916(+) CCCAG(A/C/T)GCTGC nc-transcript-variant, reference, missense
rs879255556 Pathogenic, Cold-induced sweating syndrome 3 (CISS3) [MIM:617055] 23,167,919(+) AGCGC(A/T)GCAGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KLHL7 Gene

Variant ID Type Subtype PubMed ID
esv29260 CNV loss 19812545
esv3612537 CNV loss 21293372
nsv1027363 CNV gain 25217958
nsv437539 CNV loss 16327808
nsv437540 CNV loss 16327808
nsv516984 CNV loss 19592680
nsv524486 CNV gain 19592680
nsv526131 CNV loss 19592680
nsv7393 OTHER inversion 18451855
nsv8070 CNV loss 18304495

Variation tolerance for KLHL7 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.58; 12.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL7 Gene

Human Gene Mutation Database (HGMD)
KLHL7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLHL7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL7 Gene

Disorders for KLHL7 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KLHL7 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KLHL7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KLHL7_HUMAN
  • Cold-induced sweating syndrome 3 (CISS3) [MIM:617055]: A form of cold-induced sweating syndrome, an autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. {ECO:0000269 PubMed:27392078}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 42 (RP42) [MIM:612943]: A 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. {ECO:0000269 PubMed:19520207, ECO:0000269 PubMed:20547956, ECO:0000269 PubMed:21828050, ECO:0000269 PubMed:22084217}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLHL7

Genetic Association Database (GAD)
KLHL7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL7
genes like me logo Genes that share disorders with KLHL7: view

No data available for Genatlas for KLHL7 Gene

Publications for KLHL7 Gene

  1. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. (PMID: 19520207) Friedman JS … Swaroop A (American journal of human genetics 2009) 2 3 4 60
  2. Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. (PMID: 27392078) Angius A … Rutsch F (American journal of human genetics 2016) 3 4 60
  3. Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation. (PMID: 21828050) Kigoshi Y … Chiba T (The Journal of biological chemistry 2011) 3 4 60
  4. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. (PMID: 22084217) Wen Y … Hughbanks-Wheaton DK (Archives of ophthalmology (Chicago, Ill. : 1960) 2011) 3 4 60
  5. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. (PMID: 20547956) Hugosson T … Andréasson S (Archives of ophthalmology (Chicago, Ill. : 1960) 2010) 3 4 60

Products for KLHL7 Gene

  • Addgene plasmids for KLHL7

Sources for KLHL7 Gene

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