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

Gene ID: 284485, updated on 5-Mar-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
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Genomic context

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Location:
1q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151711551..151729805)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150834937..150853183)
105.20220307 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

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_2023_10

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

Gene LinkOut

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