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

    Gene ID: 51389, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 22.0), adrenal (RPKM 19.3) and 25 other tissues See more
    Orthologs
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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
    		  
    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

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

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