Human Gene KLHL7 (uc003svs.4) Description and Page Index
  Description: Homo sapiens kelch-like family member 7 (KLHL7), transcript variant 1, mRNA.
RefSeq Summary (NM_001031710): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:23,145,353-23,215,038 Size: 69,686 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr7:23,145,646-23,213,917 Size: 68,272 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:23,145,353-23,215,038)mRNA (may differ from genome)Protein (586 aa)
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: KLHL7_HUMAN
DESCRIPTION: RecName: Full=Kelch-like protein 7;
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.
SUBUNIT: Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.
DISEASE: Defects in KLHL7 are the cause of retinitis pigmentosa type 42 (RP42) [MIM:612943]. A retinal dystrophy belonging to the group of pigmentary retinopathies. RP 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.
SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 6 Kelch repeats.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KLHL7
CDC HuGE Published Literature: KLHL7
Positive Disease Associations: Platelet Aggregation
Related Studies:
  1. Platelet Aggregation
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  2. Platelet Aggregation
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.

-  MalaCards Disease Associations
  MalaCards Gene Search: KLHL7
Diseases sorted by gene-association score: retinitis pigmentosa 42* (1259), cold-induced sweating syndrome 3* (1230), klhl7-related retinitis pigmentosa* (500), cold-induced sweating syndrome 1* (283), crlf1-related cold-induced sweating syndrome including crisponi syndrome* (283), cold-induced sweating syndrome* (223), retinitis pigmentosa* (63), retinitis (15), ichthyosis, congenital, autosomal recessive 11 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.12 RPKM in Testis
Total median expression: 214.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -142.30293-0.486 Picture PostScript Text
3' UTR -244.801121-0.218 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011705 - BACK
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR017096 - Kelch-like_gigaxonin
IPR015915 - Kelch-typ_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07646 - Kelch motif
PF07707 - BTB And C-terminal Kelch
PF13418 - Galactose oxidase, central domain
PF13964 - Kelch motif

SCOP Domains:
50965 - Galactose oxidase, central domain
54695 - POZ domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3II7
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8IXQ5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0031463 Cul3-RING ubiquitin ligase complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK297421 - Homo sapiens cDNA FLJ54026 complete cds, highly similar to Kelch-like protein 7.
AK056390 - Homo sapiens cDNA FLJ31828 fis, clone NT2RP6000109, weakly similar to RING CANAL PROTEIN.
AK297595 - Homo sapiens cDNA FLJ52332 complete cds, highly similar to Kelch-like protein 7.
AL136597 - Homo sapiens mRNA; cDNA DKFZp564C1616 (from clone DKFZp564C1616).
AK297369 - Homo sapiens cDNA FLJ55340 complete cds, highly similar to Kelch-like protein 7.
AK296219 - Homo sapiens cDNA FLJ52310 complete cds, highly similar to Kelch-like protein 7.
BC039585 - Homo sapiens kelch-like 7 (Drosophila), mRNA (cDNA clone MGC:48764 IMAGE:5527346), complete cds.
AK290479 - Homo sapiens cDNA FLJ77412 complete cds.
EF560731 - Homo sapiens clone DKFZp686N2237 KLHL7 protein (KLHL7) mRNA, complete cds.
EU831716 - Synthetic construct Homo sapiens clone HAIB:100066745; DKFZo003E0420 kelch-like 7 (Drosophila) protein (KLHL7) gene, encodes complete protein.
EU831631 - Synthetic construct Homo sapiens clone HAIB:100066660; DKFZo007E0419 kelch-like 7 (Drosophila) protein (KLHL7) gene, encodes complete protein.
EU831829 - Synthetic construct Homo sapiens clone HAIB:100066858; DKFZo004A0622 kelch-like 7 (Drosophila) protein (KLHL7) gene, encodes complete protein.
AK299006 - Homo sapiens cDNA FLJ53164 complete cds, highly similar to Kelch-like protein 7.
AY028802 - Homo sapiens kelch/BTB protein mRNA, complete cds.
GQ129238 - Synthetic construct Homo sapiens clone HAIB:100068501; DKFZo004E0734 kelch-like 7 (Drosophila) protein (KLHL7) gene, partial cds.
EU832811 - Synthetic construct Homo sapiens clone HAIB:100067840; DKFZo008E0733 kelch-like 7 (Drosophila) protein (KLHL7) gene, encodes complete protein.
BC009555 - Homo sapiens kelch-like 7 (Drosophila), mRNA (cDNA clone IMAGE:3899090), complete cds.
AF111113 - Homo sapiens SBBI26 mRNA, complete cds.
JD152787 - Sequence 133811 from Patent EP1572962.
JD527152 - Sequence 508176 from Patent EP1572962.
AK302995 - Homo sapiens cDNA FLJ54973 complete cds, highly similar to Homo sapiens kelch-like 7 (KLHL7), transcript variant 2, mRNA.
KJ906250 - Synthetic construct Homo sapiens clone ccsbBroadEn_15920 KLHL7 gene, encodes complete protein.
CU679399 - Synthetic construct Homo sapiens gateway clone IMAGE:100022633 5' read KLHL7 mRNA.
AL834193 - Homo sapiens mRNA; cDNA DKFZp434K1317 (from clone DKFZp434K1317).
JD202353 - Sequence 183377 from Patent EP1572962.
JD360005 - Sequence 341029 from Patent EP1572962.
JD549338 - Sequence 530362 from Patent EP1572962.
JD463615 - Sequence 444639 from Patent EP1572962.
JD036636 - Sequence 17660 from Patent EP1572962.
JD038966 - Sequence 19990 from Patent EP1572962.
JD207868 - Sequence 188892 from Patent EP1572962.
JD417382 - Sequence 398406 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D144, KLHL7_HUMAN, NM_001031710, NP_061334, Q7Z765, Q8IXQ5, Q96MV2, Q9BQF8, Q9UDQ9
UCSC ID: uc003svs.4
RefSeq Accession: NM_001031710
Protein: Q8IXQ5 (aka KLHL7_HUMAN)
CCDS: CCDS34609.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KLHL7:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001031710.2
exon count: 11CDS single in 3' UTR: no RNA size: 3195
ORF size: 1761CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3722.00frame shift in genome: no % Coverage: 99.37
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.