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    PRRG1 proline rich and Gla domain 1 [ Homo sapiens (human) ]

    Gene ID: 5638, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRRG1provided by HGNC
    Official Full Name
    proline rich and Gla domain 1provided by HGNC
    Primary source
    HGNC:HGNC:9469
    See related
    Ensembl:ENSG00000130962 MIM:300935; AllianceGenome:HGNC:9469
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRGP1
    Summary
    This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in brain (RPKM 6.8), gall bladder (RPKM 4.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRRG1 in Genome Data Viewer
    Location:
    Xp21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (37349364..37457291)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (36752902..36860846)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37208617..37316544)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ferritin heavy chain 1 pseudogene 29 Neighboring gene MOB kinase activator 1A pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:37208413-37208924 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:37208925-37209435 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:37319949-37320696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:37328077-37328667 Neighboring gene ferritin heavy chain 1 pseudogene 28 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chrX:37335671-37336508 Neighboring gene ferritin heavy chain 1 pseudogene 19 Neighboring gene ferritin heavy chain 1 pseudogene 27

    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 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. Primary structure and tissue distribution of two novel proline-rich gamma-carboxyglutamic acid proteins. Kulman JD, et al. Proc Natl Acad Sci U S A, 1997 Aug 19. PMID 9256434, Free PMC Article
    2. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. Teixeira FR, et al. J Biol Chem, 2013 Sep 27. PMID 23940030, Free PMC Article
    3. Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. Persaud A, et al. Mol Syst Biol, 2009. PMID 19953087, Free PMC Article
    4. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    5. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791

    See all (13) 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)

    Genotypes

    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 calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane gamma-carboxyglutamic acid protein 1
    Names
    proline rich Gla (G-carboxyglutamic acid) 1
    proline-rich Gla (G-carboxyglutamic acid) polypeptide 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.

    Genomic

    1. NG_016770.1 RefSeqGene

      Range
      5090..113017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000950.3 → NP_000941.1  transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000941.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1-4 encode the same isoform.
      Source sequence(s)
      AF009242, BC030786, DA411839
      Consensus CDS
      CCDS14239.1
      UniProtKB/Swiss-Prot
      B2R7A3, C9JXL7, D3DWA9, O14668, Q5JT66
      UniProtKB/TrEMBL
      Q8NEK6
      Related
      ENSP00000390332.2, ENST00000449135.6
      Conserved Domains (1) summary
      smart00069
      Location:2 → 65
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    2. NM_001142395.2 → NP_001135867.1  transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001135867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing a 5' non-coding exon compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      BC030786, BC060833
      Consensus CDS
      CCDS14239.1
      UniProtKB/Swiss-Prot
      B2R7A3, C9JXL7, D3DWA9, O14668, Q5JT66
      UniProtKB/TrEMBL
      Q8NEK6
      Related
      ENSP00000367894.4, ENST00000378628.9
      Conserved Domains (1) summary
      smart00069
      Location:2 → 65
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    3. NM_001173486.2 → NP_001166957.1  transmembrane gamma-carboxyglutamic acid protein 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) is missing a 5' non-coding exon, and contains an alternate 3' terminal exon compared to variant 1. The latter causes a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Isoform 2 retains a partial Gla domain at the N-terminus, however, this protein is predicted and lacks experimental evidence.
      Source sequence(s)
      AC245096, BC041591, BC060833
      Consensus CDS
      CCDS55397.1
      UniProtKB/Swiss-Prot
      O14668
      Related
      ENSP00000419999.1, ENST00000463135.1
      Conserved Domains (1) summary
      smart00069
      Location:2 → 57
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    4. NM_001173489.2 → NP_001166960.1  transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001166960.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternative donor splice site at the 5' terminal non-coding exon compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AF009242, BX097465, CB134819, DA245329, DA417581
      Consensus CDS
      CCDS14239.1
      UniProtKB/Swiss-Prot
      B2R7A3, C9JXL7, D3DWA9, O14668, Q5JT66
      UniProtKB/TrEMBL
      Q8NEK6
      Conserved Domains (1) summary
      smart00069
      Location:2 → 65
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    5. NM_001173490.2 → NP_001166961.1  transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001166961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternative donor splice site at the 5' terminal non-coding exon, and is missing another 5' non-coding exon compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AF009242, BX097465, CB134819, DA417581
      Consensus CDS
      CCDS14239.1
      UniProtKB/Swiss-Prot
      B2R7A3, C9JXL7, D3DWA9, O14668, Q5JT66
      UniProtKB/TrEMBL
      Q8NEK6
      Conserved Domains (1) summary
      smart00069
      Location:2 → 65
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      37349364..37457291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      36752902..36860846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14668.1 GenPept UniProtKB/Swiss-Prot:O14668

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