KLHDC7A (1p36.13) ( Koko :777 aa)

https://www.ncbi.nlm.nih.gov/gene/127707
 https://www.ncbi.nlm.nih.gov/protein/NP_689588.2

Preferred Names

kelch domain-containing protein 7A

1. NM_152375.2 → NP_689588.2  kelch domain-containing protein 7A
   See identical proteins and their annotated locations for NP_689588.2
   

   ORIGIN      
           1 mfprgaeaqd whldmqltgk vvlsaaalll vtvayrlyks rpapaqrwgg ngqaeakeea
          61 egsgqpavqe aspgvllrgp rrrrsskrae apqgcscenp rgpyvlvtga tstdrkpqrk
         121 gsgeerggqg sdseqvppcc psqetrtavg snpdpphfpr lgsepksspa gliaaadgsc
         181 aggepspwqd skprehpglg qlepphchyv aplqgssdmn qswvftrvig vsreeagale
         241 aasdvdltlh qqegapnssy tfssiarvrm eehfiqkaeg veprlkgkvy dyyvestsqa
         301 ifqgrlaprt aaltevpspr pppgslgtga asggqagdtk gaaeraaspq tgpwpstrgf
         361 srkesllqia enpelqlqpd gfrlpappcp dpgalpglgr ssrephvqpv agtnffhipl
         421 tpasapqvrl dlgncyevlt lakrqnleal keaaykvmse nylqvlrspd iygclsgaer
         481 elilqrrlrg rqylvvadvc pkedsgglcc yddeqdvwrp larmppeavs rgcaicslfn
         541 ylfvvsgcqg pghqpssrvf cynpltgiws evcplnqarp hcrlvaldgh lyaiggecln
         601 sverydprld rwdfapplps dtfalahtat vrakeifvtg gslrfllfrf saqeqrwwag
         661 ptggskdrta emvavngfly rfdlnrslgi avyrcsastr lwyecatyrt pypdafqcav
         721 vdnliycvgr rstlcflads vsprfvpkel rsfpapqgtl lptvltlptp dlpqtrv

   Conserved Domains (4) summary

   smart00612
   Location:542 → 589

   Kelch; Kelch domain

   sd00038
   Location:531 → 575

   Kelch; KELCH repeat [structural motif]

   pfam01344
   Location:578 → 619

   Kelch_1; Kelch motif

   cl06652
   Location:430 → 470

   BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains

1. Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population. Lin X, et al. J Gene Med, 2016 Oct. PMID 27607899
2. Genome-wide meta-analysis for severe diabetic retinopathy. Grassi MA, et al. Hum Mol Genet, 2011 Jun 15. PMID 21441570, Free PMC Article
3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. Results suggest that LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms influence the development of diabetic retinopathy (DR).
2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)