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    KRBOX1 KRAB box domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 100506243, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRBOX1provided by HGNC
    Official Full Name
    KRAB box domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:38708
    See related
    Ensembl:ENSG00000240747 AllianceGenome:HGNC:38708
    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 involved in regulation of DNA-templated transcription. [provided by Alliance of Genome Resources, Dec 2024]
    Annotation information
    Note: This gene LOC26172 (GeneID: 26172) was previously annotated as C3orf41, and a chimeric/readthrough mRNA that contained part of the neighboring gene (GeneID: 729085) as well as LOC26172 was associated with this GeneID. The two genes are now represented by separate entries, LOC26172 (GeneID: 26172) and C3orf41 (GeneID: 729085). [13 Feb 2013]
    Expression
    Biased expression in testis (RPKM 80.1) and endometrium (RPKM 3.4) See more
    Orthologs
    all
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    Genomic context

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    See KRBOX1 in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42936386..42942792)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42952031..42958437)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42977878..42984284)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:42931092-42931592 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 22 Neighboring gene zinc finger protein 662 Neighboring gene KRBOX1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025326-43025826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43025827-43026327 Neighboring gene golgi associated kinase 1A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43104067-43104586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121119-43121620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43121621-43122120 Neighboring gene uncharacterized LOC107986079 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The DNA sequence, annotation and analysis of human chromosome 3. Muzny DM, et al. Nature, 2006 Apr 27. PMID 16641997
    2. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Goldstein JI, et al. Nat Commun, 2014 Sep 4. PMID 25187353, Free PMC Article
    3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    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

    • FLJ27464, FLJ51974, MGC141710

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    KRAB domain-containing protein 1

    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_001205272.2 → NP_001192201.1  KRAB domain-containing protein 1

      See identical proteins and their annotated locations for NP_001192201.1

      Status: VALIDATED

      Source sequence(s)
      BC062786
      Consensus CDS
      CCDS54572.1
      UniProtKB/Swiss-Prot
      B4DJE8, C9JBD0
      Related
      ENSP00000373254.5, ENST00000383748.9
      Conserved Domains (2) summary
      smart00349
      Location:15 → 74
      KRAB; krueppel associated box
      pfam01352
      Location:15 → 54
      KRAB; KRAB box

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      42936386..42942792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      42952031..42958437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015673.1: Suppressed sequence

      Description
      NM_015673.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JBD0.1 GenPept UniProtKB/Swiss-Prot:C9JBD0

    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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