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

Gene ID: 5638, updated on 2-Nov-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
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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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