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    KLHDC7A kelch domain containing 7A [ Homo sapiens (human) ]

    Gene ID: 127707, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLHDC7Aprovided by HGNC
    Official Full Name
    kelch domain containing 7Aprovided by HGNC
    Primary source
    HGNC:HGNC:26791
    See related
    Ensembl:ENSG00000179023 AllianceGenome:HGNC:26791
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    mouse all
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    Genomic context

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    See KLHDC7A in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (18480930..18485974)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (18301029..18306073)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (18807424..18812468)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene immunoglobin superfamily member 21 Neighboring gene uncharacterized LOC124903863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18620236-18621123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:18622899-18623785 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18624079-18624604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18626609-18627236 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:18633258-18633415 Neighboring gene Sharpr-MPRA regulatory region 11488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18672835-18673336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18673337-18673836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18709612-18710411 Neighboring gene uncharacterized LOC124903865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18733166-18733860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18733861-18734554 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:18794765-18794938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18806502-18807374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18807375-18808246 Neighboring gene dynein light chain LC8-type 1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18877005-18877829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18879379-18879880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18879881-18880380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18884373-18884880 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18883865-18884372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18898371-18898870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18901646-18902224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18902225-18902802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18925717-18926246 Neighboring gene PAX7 promoter region Neighboring gene PAX7 intron homotypic clusters of transcription factor binding sites enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18963062-18963678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18963679-18964296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18962444-18963061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18967445-18967966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18976025-18976654 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:18978097-18978886 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:18979869-18980025 Neighboring gene Sharpr-MPRA regulatory region 1855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19018361-19018860 Neighboring gene paired box 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19064331-19064838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19064839-19065345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19066201-19066702

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    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

    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).
      Title: Association between LEKR1-CCNL1 and IGSF21-KLHDC7A gene polymorphisms and diabetic retinopathy of type 2 diabetes mellitus in the Chinese Han population.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38753

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kelch domain-containing protein 7A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_152375.3 → NP_689588.2  kelch domain-containing protein 7A

      See identical proteins and their annotated locations for NP_689588.2

      Status: VALIDATED

      Source sequence(s)
      AL591896
      Consensus CDS
      CCDS185.2
      UniProtKB/Swiss-Prot
      Q5VTJ3, Q8N8W6
      UniProtKB/TrEMBL
      A7E2V3
      Related
      ENSP00000383505.1, ENST00000400664.3
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      18480930..18485974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      18301029..18306073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VTJ3.5 GenPept UniProtKB/Swiss-Prot:Q5VTJ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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