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    CCER1 coiled-coil glutamate rich protein 1 [ Homo sapiens (human) ]

    Gene ID: 196477, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCER1provided by HGNC
    Official Full Name
    coiled-coil glutamate rich protein 1provided by HGNC
    Primary source
    HGNC:HGNC:28373
    See related
    Ensembl:ENSG00000197651 MIM:620881; AllianceGenome:HGNC:28373
    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
    C12orf12
    Expression
    Restricted expression toward testis (RPKM 6.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCER1 in Genome Data Viewer
    Location:
    12q21.33
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (90952215..90955176, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (90929723..90932684, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (91345992..91348953, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903074 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:91203521-91204720 Neighboring gene Sharpr-MPRA regulatory region 14687 Neighboring gene long intergenic non-protein coding RNA 615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6716 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91377884-91378418 Neighboring gene epiphycan Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91434914-91435454 Neighboring gene keratocan

    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. Phase-separated CCER1 coordinates the histone-to-protamine transition and male fertility. Qin D, et al. Nat Commun, 2023 Dec 11. PMID 38081819, Free PMC Article
    2. Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters. Shen L, et al. PLoS Genet, 2007 Oct. PMID 17967063, Free PMC Article
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    5. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phase-separated CCER1 coordinates the histone-to-protamine transition and male fertility.
      Title: Phase-separated CCER1 coordinates the histone-to-protamine transition and male fertility.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC26598

    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
    coiled-coil domain-containing glutamate-rich protein 1

    NCBI Reference Sequences (RefSeq)

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    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_152638.4 → NP_689851.1  coiled-coil domain-containing glutamate-rich protein 1

      See identical proteins and their annotated locations for NP_689851.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AC078873, BC027600
      Consensus CDS
      CCDS9036.1
      UniProtKB/Swiss-Prot
      Q8TC47, Q8TC90
      Related
      ENSP00000351727.2, ENST00000358859.3
      Conserved Domains (1) summary
      pfam15482
      Location:4 → 219
      CCER1; Coiled-coil domain-containing glutamate-rich protein family 1

    RNA

    1. NR_130711.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal segment, compared to variant 1. This variant is represented as non-coding because it lacks all of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AC078873, BC027600, BX114695

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      90952215..90955176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      90929723..90932684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC90.1 GenPept UniProtKB/Swiss-Prot:Q8TC90

    Gene LinkOut

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

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