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    KRCC1 lysine rich coiled-coil 1 [ Homo sapiens (human) ]

    Gene ID: 51315, updated on 17-Sep-2024

    Summary

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    Official Symbol
    KRCC1provided by HGNC
    Official Full Name
    lysine rich coiled-coil 1provided by HGNC
    Primary source
    HGNC:HGNC:28039
    See related
    Ensembl:ENSG00000172086 AllianceGenome:HGNC:28039
    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
    Also known as
    CHBP2
    Expression
    Ubiquitous expression in colon (RPKM 25.0), thyroid (RPKM 18.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KRCC1 in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (88027205..88055783, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (88038504..88067074, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88326724..88355302, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16166 Neighboring gene uncharacterized LOC105374852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88318573-88319088 Neighboring gene RNA, U2 small nuclear 63, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16167 Neighboring gene CRISPRi-validated cis-regulatory element chr2.3248 Neighboring gene skeletal muscle cis-regulatory module upstream of SMYD1 Neighboring gene Sharpr-MPRA regulatory region 1533 Neighboring gene SET and MYND domain containing 1 Neighboring gene microRNA 4780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88406623-88407124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88407125-88407624 Neighboring gene Sharpr-MPRA regulatory region 11659 Neighboring gene fatty acid binding protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. KRCC1, a modulator of the DNA damage response. Neizer-Ashun F, et al. Nucleic Acids Res, 2022 Oct 28. PMID 36243983, Free PMC Article
    2. KRCC1: A potential therapeutic target in ovarian cancer. Dwivedi SKD, et al. FASEB J, 2020 Feb. PMID 31908025, Free PMC Article
    3. Measurement of binding strength between prey proteins interacting with Toxoplasma gondii SAG1 and SAG2 using isothermal titration calorimetry (ITC). Lai MY, et al. Acta Parasitol, 2018 Mar 26. PMID 29351065
    4. Genome-wide association meta-analysis for total serum bilirubin levels. Johnson AD, et al. Hum Mol Genet, 2009 Jul 15. PMID 19414484, Free PMC Article
    5. Cloning of ARE-containing genes by AU-motif-directed display. Dominguez O, et al. Genomics, 1998 Dec 1. PMID 9828130

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KRCC1: A potential therapeutic target in ovarian cancer.
      Title: KRCC1: A potential therapeutic target in ovarian cancer.
    2. By observing the data obtained from the isothermal titration calorimetry assay, both of the human proteins (KRCC1 and ZFAND6) were demonstrated to bind to their respective Toxoplasma gondii SAG1 and SAG2 proteins.
      Title: Measurement of binding strength between prey proteins interacting with Toxoplasma gondii SAG1 and SAG2 using isothermal titration calorimetry (ITC).
    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 association meta-analysis for total serum bilirubin levels.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22333

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lysine-rich coiled-coil protein 1
    Names
    cryptogenic hepatitis-binding protein 2

    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_001304526.2 → NP_001291455.1  lysine-rich coiled-coil protein 1

      See identical proteins and their annotated locations for NP_001291455.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC015927, DB461504
      Consensus CDS
      CCDS2000.1
      UniProtKB/Swiss-Prot
      Q3B7J7, Q9NPI7
      Related
      ENSP00000499834.1, ENST00000672766.1

    2. NM_016618.3 → NP_057702.1  lysine-rich coiled-coil protein 1

      See identical proteins and their annotated locations for NP_057702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC108479, AF208845, DB461504
      Consensus CDS
      CCDS2000.1
      UniProtKB/Swiss-Prot
      Q3B7J7, Q9NPI7
      Related
      ENSP00000340083.3, ENST00000347055.4

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      88027205..88055783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004292.3 → XP_016859781.1  lysine-rich coiled-coil protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J7, Q9NPI7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      88038504..88067074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342458.1 → XP_054198433.1  lysine-rich coiled-coil protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J7, Q9NPI7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPI7.1 GenPept UniProtKB/Swiss-Prot:Q9NPI7

    Gene LinkOut

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

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