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R3HCC1 R3H domain and coiled-coil containing 1 [ Homo sapiens (human) ]

Gene ID: 203069, updated on 17-Jun-2024

Summary

Official Symbol
R3HCC1provided by HGNC
Official Full Name
R3H domain and coiled-coil containing 1provided by HGNC
Primary source
HGNC:HGNC:27329
See related
Ensembl:ENSG00000104679 AllianceGenome:HGNC:27329
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
Summary
Predicted to enable nucleic acid binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 16.1), fat (RPKM 12.3) and 25 other tissues See more
Orthologs
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Genomic context

See R3HCC1 in Genome Data Viewer
Location:
8p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (23288092..23296279)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23562965..23571152)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23145605..23153792)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene TNFRSF10A 5' regulatory region Neighboring gene TNFRSF10A divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr8:23100842-23101343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27114 Neighboring gene MPRA-validated peak6945 silencer Neighboring gene charged multivesicular body protein 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23129689-23130226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159094-23159594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159595-23160095 Neighboring gene lysyl oxidase like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23177410-23177975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23182003-23182503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23195830-23196330 Neighboring gene LOXL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23209911-23210493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23236632-23237224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23237225-23237815 Neighboring gene Sharpr-MPRA regulatory region 9444 Neighboring gene Sharpr-MPRA regulatory region 13358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23273382-23273902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23279735-23280235 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23308148-23308855 Neighboring gene Sharpr-MPRA regulatory region 8456 Neighboring gene NANOG hESC enhancer GRCh37_chr8:23312327-23312828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19024

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp564N123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
R3H and coiled-coil domain-containing protein 1

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_001136108.3NP_001129580.2  R3H and coiled-coil domain-containing protein 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC032421, BC143829
    Consensus CDS
    CCDS47826.2
    UniProtKB/Swiss-Prot
    B7ZLI1, Q9Y3T6
    UniProtKB/TrEMBL
    A0A0R4J2E2
    Related
    ENSP00000265806.8, ENST00000265806.12
    Conserved Domains (2) summary
    cd02638
    Location:1980
    R3H_unknown_1; R3H domain of a group of eukaryotic proteins with unknown function. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. The function of the domain is predicted to bind ssDNA or ssRNA in ...
    cl17169
    Location:318382
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. NM_001301650.2NP_001288579.1  R3H and coiled-coil domain-containing protein 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    BC032421, BC143822
    Consensus CDS
    CCDS78317.1
    UniProtKB/TrEMBL
    A0A0D9SF44
    Related
    ENSP00000486278.2, ENST00000625275.3
    Conserved Domains (2) summary
    cd02638
    Location:1980
    R3H_unknown_1; R3H domain of a group of eukaryotic proteins with unknown function. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. The function of the domain is predicted to bind ssDNA or ssRNA in ...
    cl17169
    Location:276340
    RRM_SF; RNA recognition motif (RRM) superfamily

RNA

  1. NR_125897.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC032421, BC143827

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    23288092..23296279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    23562965..23571152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)