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

Gene ID: 203069, updated on 9-Feb-2020

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
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
Expression
Ubiquitous expression in testis (RPKM 16.1), fat (RPKM 12.3) and 25 other tissues See more
Orthologs

Genomic context

See R3HCC1 in Genome Data Viewer
Location:
8p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (23288092..23296279)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23145442..23153792)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379326 Neighboring gene charged multivesicular body protein 7 Neighboring gene lysyl oxidase like 2 Neighboring gene uncharacterized LOC100507156 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 4

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

Homology

Clone Names

  • DKFZp564N123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with exon-exon junction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q9Y3T6
    Related
    ENSP00000265806.7, ENST00000265806.11
    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_001301650.1NP_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/Swiss-Prot
    Q9Y3T6
    Related
    ENSP00000486278.1, ENST00000625275.2
    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

    Description
    Transcript Variant: This variant (3) lacks an internal segment, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC032421, BC143827

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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