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    REDIC1 regulator of DNA class I crossover intermediates 1 [ Homo sapiens (human) ]

    Gene ID: 283461, updated on 28-Oct-2024

    Summary

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    Official Symbol
    REDIC1provided by HGNC
    Official Full Name
    regulator of DNA class I crossover intermediates 1provided by HGNC
    Primary source
    HGNC:HGNC:26846
    See related
    Ensembl:ENSG00000180116 MIM:620495; AllianceGenome:HGNC:26846
    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
    HEIP1; HEL-206; C12orf40; HEL-S-94
    Summary
    Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in meiotic cell cycle. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 2.2) and brain (RPKM 0.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See REDIC1 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (39626183..39908300)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (39576056..39858183)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (40019985..40302102)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6202 Neighboring gene ribosomal protein L7a pseudogene 74 Neighboring gene uncharacterized LOC124902918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:39968122-39968922 Neighboring gene ATP binding cassette subfamily D member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6205 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:40069543-40069733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40092729-40093230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40093231-40093730 Neighboring gene solute carrier family 2 member 13 Neighboring gene small nucleolar RNA SNORA22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:40340515-40341014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40371836-40372393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40372394-40372950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4349 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:40422025-40423224 Neighboring gene uncharacterized LOC112268095 Neighboring gene ribosomal protein L30 pseudogene 13

    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. A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation. Fan S, et al. Cell Discov, 2023 Aug 23. PMID 37612290, Free PMC Article
    2. Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Tu C, et al. Cell Discov, 2023 Aug 22. PMID 37604834, Free PMC Article
    3. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    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. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    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

    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

    • FLJ40126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    regulator of DNA class I crossover intermediates 1
    Names
    HEI10 Interacting Protein 1
    epididymis luminal protein 206
    epididymis secretory protein Li 94
    uncharacterized protein C12orf40

    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_001031748.4 → NP_001026918.2  regulator of DNA class I crossover intermediates 1 isoform 1

      See identical proteins and their annotated locations for NP_001026918.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL705293, BC048120
      Consensus CDS
      CCDS41770.1
      UniProtKB/Swiss-Prot
      B7WNU1, Q86WS4, Q8IXY6, Q8N818, V9HW02
      Related
      ENSP00000317671.5, ENST00000324616.9
      Conserved Domains (1) summary
      pfam15089
      Location:229 → 652
      DUF4552; Domain of unknown function (DUF4552)

    2. NM_001319247.2 → NP_001306176.1  regulator of DNA class I crossover intermediates 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two 3' coding exons and its transcription extends past a splice site used in the variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
      Source sequence(s)
      AC125491, BC038754
      Consensus CDS
      CCDS81681.1
      UniProtKB/Swiss-Prot
      Q86WS4
      Related
      ENSP00000383897.3, ENST00000405531.7
      Conserved Domains (1) summary
      pfam15089
      Location:229 → 470
      DUF4552; Domain of unknown function (DUF4552)

    RNA

    1. NR_135051.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region, contains an alternate exon in the central region, lacks the 3' terminal exon, and contains seven alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC121335, AC121336, AC125491, AK097445
      Related
      ENST00000468200.2

    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
      39626183..39908300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268806.4 → XP_005268863.1  regulator of DNA class I crossover intermediates 1 isoform X1

      See identical proteins and their annotated locations for XP_005268863.1

      Conserved Domains (1) summary
      pfam15089
      Location:152 → 575
      DUF4552; Domain of unknown function (DUF4552)

    2. XM_011538231.3 → XP_011536533.1  regulator of DNA class I crossover intermediates 1 isoform X1

      See identical proteins and their annotated locations for XP_011536533.1

      Conserved Domains (1) summary
      pfam15089
      Location:152 → 575
      DUF4552; Domain of unknown function (DUF4552)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      39576056..39858183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371846.1 → XP_054227821.1  regulator of DNA class I crossover intermediates 1 isoform X1

    2. XM_054371847.1 → XP_054227822.1  regulator of DNA class I crossover intermediates 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WS4.3 GenPept UniProtKB/Swiss-Prot:Q86WS4

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