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    R3HDML R3H domain containing like [ Homo sapiens (human) ]

    Gene ID: 140902, updated on 28-Oct-2024

    Summary

    Official Symbol
    R3HDMLprovided by HGNC
    Official Full Name
    R3H domain containing likeprovided by HGNC
    Primary source
    HGNC:HGNC:16249
    See related
    Ensembl:ENSG00000101074 AllianceGenome:HGNC:16249
    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
    dJ881L22.3
    Summary
    Predicted to enable peptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See R3HDML in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44337043..44351238)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46071781..46085977)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42965683..42979878)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42938689-42939418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42939419-42940148 Neighboring gene fat storage inducing transmembrane protein 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42952746-42953298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42962599-42963110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42964365-42965354 Neighboring gene R3HDML antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42981671-42982170 Neighboring gene HNF4A antisense RNA 1 Neighboring gene hepatocyte nuclear factor 4 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43017550-43018051 Neighboring gene microRNA 3646

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of R3H domain containing-like (R3HDML) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC129564

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables peptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    peptidase inhibitor R3HDML
    Names
    cysteine-rich secretory protein R3HDML

    NCBI Reference Sequences (RefSeq)

    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_178491.4NP_848586.1  peptidase inhibitor R3HDML precursor

      See identical proteins and their annotated locations for NP_848586.1

      Status: VALIDATED

      Source sequence(s)
      AL117382
      Consensus CDS
      CCDS13329.1
      UniProtKB/Swiss-Prot
      Q9H3Y0
      Related
      ENSP00000217043.3, ENST00000217043.4
      Conserved Domains (1) summary
      cl00133
      Location:65207
      SCP; SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in ...

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      44337043..44351238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46071781..46085977
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)