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RWDD1 RWD domain containing 1 [ Homo sapiens (human) ]

Gene ID: 51389, updated on 2-Nov-2024

Summary

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Official Symbol
RWDD1provided by HGNC
Official Full Name
RWD domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20993
See related
Ensembl:ENSG00000111832 MIM:620844; AllianceGenome:HGNC:20993
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
CGI-24; PTD013
Summary
Predicted to be involved in cytoplasmic translation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 22.0), adrenal (RPKM 19.3) and 25 other tissues See more
Orthologs
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Genomic context

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See RWDD1 in Genome Data Viewer
Location:
6q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (116571504..116597675)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (117755215..117781381)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116892667..116918838)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 3L Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr6:116832513-116833094 Neighboring gene calcium homeostasis modulator family member 5 Neighboring gene MPRA-validated peak6051 silencer Neighboring gene calcium homeostasis modulator family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17496 Neighboring gene MPRA-validated peak6052 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24998 Neighboring gene uncharacterized LOC124901386 Neighboring gene radial spoke head component 4A Neighboring gene zinc finger containing ubiquitin peptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24999

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Identification of DRG family regulatory proteins (DFRPs): specific regulation of DRG1 and DRG2. Ishikawa K, et al. Genes Cells, 2005 Feb. PMID 15676025
  2. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Vieira AR, et al. Genet Med, 2008 Sep. PMID 18978678, Free PMC Article
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
  5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in androgen receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to testosterone stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in cytoplasmic translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of androgen receptor activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
RWD domain-containing protein 1
Names
DRG family-regulatory protein 2

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_001007464.3 → NP_001007465.1  RWD domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_001007465.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK301089, AL121953, BC012534, CK817864
    Consensus CDS
    CCDS43496.1
    UniProtKB/Swiss-Prot
    Q9H446
    Related
    ENSP00000428778.1, ENST00000487832.6
    Conserved Domains (1) summary
    pfam16543
    Location:48 → 101
    DFRP_C; DRG Family Regulatory Proteins, Tma46

  2. NM_015952.4 → NP_057036.2  RWD domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_057036.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK290727, AK301089, AL121953, CK817864
    Consensus CDS
    CCDS34520.1
    UniProtKB/Swiss-Prot
    A8K3W2, A8MT24, Q9H446, Q9Y313, Q9Y6B3
    Related
    ENSP00000420357.2, ENST00000466444.7
    Conserved Domains (2) summary
    pfam05773
    Location:6 → 111
    RWD; RWD domain
    pfam16543
    Location:144 → 217
    DFRP_C; DRG Family Regulatory Proteins, Tma46

  3. NM_016104.4 → NP_057188.2  RWD domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_057188.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK290727, AK301089, AL121953, CK817864, CN363729
    Consensus CDS
    CCDS43496.1
    UniProtKB/Swiss-Prot
    Q9H446
    Conserved Domains (1) summary
    pfam16543
    Location:48 → 101
    DFRP_C; DRG Family Regulatory Proteins, Tma46

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    116571504..116597675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418863.1 → XP_047274819.1  RWD domain-containing protein 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    117755215..117781381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355582.1 → XP_054211557.1  RWD domain-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H446.1 GenPept UniProtKB/Swiss-Prot:Q9H446

Gene LinkOut

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