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

Gene ID: 5638, updated on 12-Oct-2019

Summary

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
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

Genomic context

See PRRG1 in Genome Data Viewer
Location:
Xp21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (37349330..37457295)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (37208528..37316548)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ferritin, heavy polypeptide-like 17 pseudogene Neighboring gene MOB kinase activator 1A pseudogene 2 Neighboring gene ferritin heavy chain like 17 pseudogene Neighboring gene ferritin heavy chain 1 pseudogene 19 Neighboring gene ferritin heavy chain 1 pseudogene 27

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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)

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_000950.3NP_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
    O14668
    UniProtKB/TrEMBL
    Q8NEK6
    Related
    ENSP00000390332.2, ENST00000449135.6
    Conserved Domains (1) summary
    smart00069
    Location:265
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
  2. NM_001142395.2NP_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
    O14668
    UniProtKB/TrEMBL
    Q8NEK6
    Related
    ENSP00000367894.4, ENST00000378628.8
    Conserved Domains (1) summary
    smart00069
    Location:265
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
  3. NM_001173486.2NP_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:257
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
  4. NM_001173489.1NP_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
    O14668
    Related
    ENSP00000444278.1, ENST00000542554.5
    Conserved Domains (1) summary
    smart00069
    Location:265
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
  5. NM_001173490.1NP_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
    O14668
    Related
    ENSP00000443271.1, ENST00000543642.5
    Conserved Domains (1) summary
    smart00069
    Location:265
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    37349330..37457295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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