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    RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 284485, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RIIAD1provided by HGNC
    Official Full Name
    regulatory subunit of type II PKA R-subunit domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26686
    See related
    Ensembl:ENSG00000178796 AllianceGenome:HGNC:26686
    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
    C1orf230; NCRNA00166
    Expression
    Biased expression in testis (RPKM 5.0), brain (RPKM 1.9) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIIAD1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151711551..151729805)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150834937..150853183)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151693998..151702281)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591098-151591598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151591599-151592099 Neighboring gene sorting nexin 27 Neighboring gene RNA, U6 small nuclear 1062, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678174-151678674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:151678675-151679175 Neighboring gene CUGBP Elav-like family member 3 Neighboring gene Sharpr-MPRA regulatory region 11691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1325 Neighboring gene RNA, U6 small nuclear 662, pseudogene Neighboring gene ribosomal protein S11 pseudogene 3

    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
    • 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. Uncoupling of bait-protein expression from the prey protein environment adds versatility for cell and tissue interaction proteomics and reveals a complex of CARP-1 and the PKA Cbeta1 subunit. Erlbruch A, et al. Proteomics, 2010 Aug. PMID 20564261
    2. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36032

    General protein information

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    Preferred Names
    RIIa domain-containing protein 1
    Names
    RIIa domain-containing protein C1orf230
    RIIa domain-containing protein ENSP00000357824
    regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

    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_001144956.3 → NP_001138428.1  RIIa domain-containing protein 1

      See identical proteins and their annotated locations for NP_001138428.1

      Status: VALIDATED

      Source sequence(s)
      AA393535, AL589765, CK300240, HY019544
      Consensus CDS
      CCDS53368.1
      UniProtKB/Swiss-Prot
      A6NNX1
      Related
      ENSP00000419249.1, ENST00000479191.2
      Conserved Domains (1) summary
      cl02594
      Location:48 → 72
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151711551..151729805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418094.1 → XP_047274050.1  RIIa domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      C9JPK7
      Related
      ENSP00000420280.1, ENST00000326413.7
      Conserved Domains (1) summary
      cd22971
      Location:50 → 90
      DD_RIIAD1; dimerization/docking (D/D) domain found in RIIa domain-containing protein 1 (RIIAD1) and similar proteins

    2. XM_047418090.1 → XP_047274046.1  RIIa domain-containing protein 1 isoform X1

    3. XM_047418091.1 → XP_047274047.1  RIIa domain-containing protein 1 isoform X2

    4. XM_047418092.1 → XP_047274048.1  RIIa domain-containing protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150834937..150853183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336093.1 → XP_054192068.1  RIIa domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      C9JPK7

    2. XM_054336090.1 → XP_054192065.1  RIIa domain-containing protein 1 isoform X1

    3. XM_054336091.1 → XP_054192066.1  RIIa domain-containing protein 1 isoform X2

    4. XM_054336092.1 → XP_054192067.1  RIIa domain-containing protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NNX1.1 GenPept UniProtKB/Swiss-Prot:A6NNX1

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