U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 51389, updated on 14-Nov-2024

    Summary

    Go to the top of the page Help
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    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

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    RWD domain-containing protein 1
    Names
    DRG family-regulatory protein 2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous