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    PPP1R21 protein phosphatase 1 regulatory subunit 21 [ Homo sapiens (human) ]

    Gene ID: 129285, updated on 17-Jun-2019

    Summary

    Official Symbol
    PPP1R21provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 21provided by HGNC
    Primary source
    HGNC:HGNC:30595
    See related
    Ensembl:ENSG00000162869 MIM:618159
    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
    KLRAQ1; CCDC128
    Expression
    Ubiquitous expression in thyroid (RPKM 15.5), kidney (RPKM 15.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See PPP1R21 in Genome Data Viewer
    Location:
    2p16.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (48440766..48515392)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48667908..48742531)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724008 Neighboring gene forkhead box N2 Neighboring gene RNA, U4 small nuclear 49, pseudogene Neighboring gene STON1-GTF2A1L readthrough Neighboring gene RNA, U6 small nuclear 282, pseudogene Neighboring gene stonin 1 Neighboring gene general transcription factor IIA subunit 1 like Neighboring gene tumor protein, translationally-controlled 1 pseudogene 11

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ16566, MGC111781

    General protein information

    Preferred Names
    protein phosphatase 1 regulatory subunit 21
    Names
    KLRAQ motif containing 1
    KLRAQ motif-containing protein 1
    coiled-coil domain containing 128
    coiled-coil domain-containing protein 128

    NCBI Reference Sequences (RefSeq)

    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_001135629.3NP_001129101.1  protein phosphatase 1 regulatory subunit 21 isoform 1

      See identical proteins and their annotated locations for NP_001129101.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AA449986, AC093635, AK172762, AY134855, BC117279
      Consensus CDS
      CCDS46278.1
      UniProtKB/Swiss-Prot
      Q6ZMI0
      Related
      ENSP00000294952.8, ENST00000294952.13
      Conserved Domains (3) summary
      pfam10205
      Location:11111
      KLRAQ; Predicted coiled-coil domain-containing protein
      pfam10212
      Location:255771
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
      cl25732
      Location:5274
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001193475.1NP_001180404.1  protein phosphatase 1 regulatory subunit 21 isoform 5

      See identical proteins and their annotated locations for NP_001180404.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter than isoform 1.
      Source sequence(s)
      AA449986, AK172762, AY134855, BC143466
      Consensus CDS
      CCDS54358.1
      UniProtKB/Swiss-Prot
      Q6ZMI0
      Related
      ENSP00000415696.2, ENST00000449090.6
      Conserved Domains (2) summary
      pfam10205
      Location:11111
      KLRAQ; Predicted coiled-coil domain-containing protein
      pfam10212
      Location:255729
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    3. NM_152994.5NP_694539.1  protein phosphatase 1 regulatory subunit 21 isoform 2

      See identical proteins and their annotated locations for NP_694539.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AA449986, AC093635, AK172762, AY134855
      Consensus CDS
      CCDS1839.1
      UniProtKB/Swiss-Prot
      Q6ZMI0
      Related
      ENSP00000281394.4, ENST00000281394.8
      Conserved Domains (2) summary
      pfam10205
      Location:11111
      KLRAQ; Predicted coiled-coil domain-containing protein
      pfam10212
      Location:255760
      TTKRSYEDQ; Predicted coiled-coil domain-containing protein

    RNA

    1. NR_024188.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA449986, AK122900, AK172762, AY134855, BC117279
      Related
      ENST00000416913.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      48440766..48515392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003301.1XP_016858790.1  protein phosphatase 1 regulatory subunit 21 isoform X1

    2. XM_017003302.1XP_016858791.1  protein phosphatase 1 regulatory subunit 21 isoform X2

    RNA

    1. XR_001738609.1 RNA Sequence

    2. XR_001738608.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135630.1: Suppressed sequence

      Description
      NM_001135630.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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