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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association meta-analysis for total serum bilirubin levels.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001304526.2NP_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_016618.3NP_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_017004292.3XP_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_054342458.1XP_054198433.1  lysine-rich coiled-coil protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J7, Q9NPI7