U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 283461, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
Expression
Biased expression in testis (RPKM 2.2) and brain (RPKM 0.2) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12q12
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (39626183..39908300)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (39576056..39858183)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  3. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
regulator of DNA class I crossover intermediates 1; uncharacterized protein C12orf40
Names
HEI10 Interacting Protein 1
epididymis luminal protein 206
epididymis secretory protein Li 94

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_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_2023_10

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  uncharacterized protein C12orf40 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  uncharacterized protein C12orf40 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  uncharacterized protein C12orf40 isoform X1

  2. XM_054371847.1 → XP_054227822.1  uncharacterized protein C12orf40 isoform X1

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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous