Details for: KLHL7

Gene ID: 55975

Symbol: KLHL7

Ensembl ID: ENSG00000122550

Description: kelch like family member 7

Associated with

Other Information

Genular Protein ID: 3486233140

Symbol: KLHL7_HUMAN

Name: Kelch-like protein 7

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16918702

Title: Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera.

PubMed ID: 16918702

DOI: 10.1111/j.1365-3083.2006.01821.x

PubMed ID: 21828050

Title: Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.

PubMed ID: 21828050

DOI: 10.1074/jbc.m111.245126

PubMed ID: 19520207

Title: Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

PubMed ID: 19520207

DOI: 10.1016/j.ajhg.2009.05.007

PubMed ID: 20547956

Title: Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

PubMed ID: 20547956

DOI: 10.1001/archophthalmol.2010.98

PubMed ID: 22084217

Title: Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.

PubMed ID: 22084217

DOI: 10.1001/archophthalmol.2011.307

PubMed ID: 27392078

Title: Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa.

PubMed ID: 27392078

DOI: 10.1016/j.ajhg.2016.05.026

Sequence Information:

  • Length: 586
  • Mass: 65992
  • Checksum: FA4ED8F1567AC7A8
  • Sequence:
  • MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV QERKIPAHRV 
    VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE FAYTARISVN SNNVQSLLDA 
    ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS VLAECLDCPE LKATADDFIH QHFTEVYKTD 
    EFLQLDVKRV THLLNQDTLT VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK 
    NFLSKTVQAE PLIQDNPECL KMVISGMRYH LLSPEDREEL VDGTRPRRKK HDYRIALFGG 
    SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK RMDCYNVVKD 
    SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF ECYDTRTESW HTKPSMLTQR 
    CSHGMVEANG LIYVCGGSLG NNVSGRVLNS CEVYDPATET WTELCPMIEA RKNHGLVFVK 
    DKIFAVGGQN GLGGLDNVEY YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG 
    RLGHILEYNT ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET

Genular Protein ID: 3352986322

Symbol: A8K364_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 586
  • Mass: 65830
  • Checksum: AD9591DD79EDEE88
  • Sequence:
  • MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV QERKIPAHRV 
    VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE FAYTARISVN SNNVQSLLDA 
    ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS VLAECLDCPE LKATADDFIH QHFTEVYKTD 
    ESLQLDVKRV THLLNQDTLT VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK 
    NFLSKTVQAE PLIQDNPECL KMVISGMRYH LLSPGDREEL VDGTRPRRKK HDYRIALFGG 
    SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK RMDCYNVVKD 
    SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF ECYDTRTESW HTKPSMLTQR 
    CSHGMVEANG LIYVCGGSLG NNVSGRVLNS CEVYDPATEA WTELCPMIEA RKNHGLVFVK 
    DKIFAVGGQN GLGGLDNVEY YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG 
    RLGHILEYNT ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.