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

Gene ID: 51315, updated on 5-Mar-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
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Genomic context

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Location:
2p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (88027205..88055783, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (88038504..88067074, complement)
105.20220307 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
  • 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_2023_10

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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