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R3HDM1 R3H domain containing 1 [ Homo sapiens (human) ]

Gene ID: 23518, updated on 6-Sep-2021

Summary

Official Symbol
R3HDM1provided by HGNC
Official Full Name
R3H domain containing 1provided by HGNC
Primary source
HGNC:HGNC:9757
See related
Ensembl:ENSG00000048991 MIM:619474
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
R3HDM
Expression
Broad expression in brain (RPKM 20.1), testis (RPKM 10.5) and 23 other tissues See more
Orthologs
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Genomic context

See R3HDM1 in Genome Data Viewer
Location:
2q21.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (135531484..135725269)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (136289054..136482839)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RAB3 GTPase activating protein catalytic subunit 1 Neighboring gene small nucleolar RNA, H/ACA box 40B Neighboring gene zinc finger RANBP2-type containing 3 Neighboring gene Sharpr-MPRA regulatory region 5980 Neighboring gene G3BP1 pseudogene 1 Neighboring gene RNA, U6 small nuclear 512, pseudogene Neighboring gene microRNA 128-1 Neighboring gene uncharacterized LOC107985946 Neighboring gene UBX domain protein 4 Neighboring gene LCT antisense RNA 1 Neighboring gene lactase

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of R3H domain containing 1 (R3HDM1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23334, KIAA0029

General protein information

Preferred Names
R3H domain-containing protein 1
Names
R3H domain (binds single-stranded nucleic acids) containing

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_001282798.2NP_001269727.1  R3H domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_001269727.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC011893, AC016742, AK290015, BQ011745, D21852, DA324823
    Consensus CDS
    CCDS63025.1
    UniProtKB/Swiss-Prot
    Q15032
    Related
    ENSP00000387010.1, ENST00000409606.5
    Conserved Domains (3) summary
    cd02642
    Location:167228
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:579910
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:251302
    SUZ; SUZ domain
  2. NM_001282799.2NP_001269728.1  R3H domain-containing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001269728.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks two alternate exons that result in the loss of an in-frame segment in the 5' coding region, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC016742, AL704414, BQ011745, D21852
    Consensus CDS
    CCDS63026.1
    UniProtKB/Swiss-Prot
    Q15032
    Related
    ENSP00000386457.1, ENST00000409478.5
    Conserved Domains (2) summary
    cd02642
    Location:123184
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam12752
    Location:205258
    SUZ; SUZ domain
  3. NM_001282800.2NP_001269729.1  R3H domain-containing protein 1 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three alternate exons in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC016742, AK127793, BQ011745
    Consensus CDS
    CCDS63024.1
    UniProtKB/Swiss-Prot
    Q15032
    Related
    ENSP00000386877.1, ENST00000410054.5
    Conserved Domains (2) summary
    cd02642
    Location:111172
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam12752
    Location:193246
    SUZ; SUZ domain
  4. NM_001354199.2NP_001341128.1  R3H domain-containing protein 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC011893, AC016742, BQ011745
    Consensus CDS
    CCDS2177.1
    Conserved Domains (3) summary
    cd02642
    Location:167228
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:578909
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:251302
    SUZ; SUZ domain
  5. NM_001354200.2NP_001341129.1  R3H domain-containing protein 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Both variants 1 and 6 encoded the same isoform (a).
    Source sequence(s)
    AC011893, AC016742, BQ011745
    Consensus CDS
    CCDS63025.1
    Conserved Domains (3) summary
    cd02642
    Location:167228
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:579910
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:251302
    SUZ; SUZ domain
  6. NM_001378107.1NP_001365036.1  R3H domain-containing protein 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC011893, AC016742
    Related
    ENSP00000506980.1, ENST00000683871.1
    Conserved Domains (3) summary
    cd02642
    Location:167228
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam03157
    Location:653855
    Glutenin_hmw; High molecular weight glutenin subunit
    pfam12752
    Location:251302
    SUZ; SUZ domain
  7. NM_015361.4NP_056176.2  R3H domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_056176.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is 1 aa shorter than isoform a.
    Source sequence(s)
    AK026987, AL704414, BC041093, BQ011745
    Consensus CDS
    CCDS2177.1
    UniProtKB/Swiss-Prot
    Q15032
    Related
    ENSP00000264160.4, ENST00000264160.8
    Conserved Domains (3) summary
    cd02642
    Location:167228
    R3H_encore_like; R3H domain of encore-like and DIP1-like proteins. Drosophila encore is involved in the germline exit after four mitotic divisions, by facilitating SCF-ubiquitin-proteasome-dependent proteolysis. Maize DBF1-interactor protein 1 (DIP1) containing an R3H ...
    pfam09606
    Location:578909
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam12752
    Location:251302
    SUZ; SUZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    135531484..135725269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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