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

Gene ID: 140902, updated on 13-May-2022

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 active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See R3HDML in Genome Data Viewer
Location:
20q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (44337043..44351238)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (46071781..46085977)
105.20220307 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 fat storage inducing transmembrane protein 2 Neighboring gene R3HDML antisense RNA 1 Neighboring gene HNF4A antisense RNA 1 Neighboring gene hepatocyte nuclear factor 4 alpha Neighboring gene microRNA 3646

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

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

Homology

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
PubMed 

General protein information

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

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_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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)