PRRG3 proline rich and Gla domain 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRRG3provided by HGNC
Official Full Name: proline rich and Gla domain 3provided by HGNC
Primary source: HGNC:HGNC:30798
See related: Ensembl:ENSG00000130032 MIM:300685; AllianceGenome:HGNC:30798
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: TMG3; PRGP3
Summary: This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011]
Expression: Broad expression in brain (RPKM 1.6), endometrium (RPKM 0.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (151694607..151705924)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (149962930..149974244)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (150863079..150874396)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
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 membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transmembrane gamma-carboxyglutamic acid protein 3

Names: proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane); proline-rich Gla protein 3; proline-rich gamma-carboxyglutamic acid protein 3

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

NG_016589.2 RefSeqGene

Range

5853..16319

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001372163.1 → NP_001359092.1 transmembrane gamma-carboxyglutamic acid protein 3 isoform 1

Status: VALIDATED

Source sequence(s)

AF274854

Consensus CDS

CCDS14699.1

UniProtKB/Swiss-Prot

A1A523, A1A575, Q8N2N6, Q9BZD7

Related

ENSP00000501544.1, ENST00000674457.1

Conserved Domains (1) summary

pfam00594
Location:24 → 63

Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
NM_001372165.1 → NP_001359094.1 transmembrane gamma-carboxyglutamic acid protein 3 isoform 2

Status: VALIDATED

Source sequence(s)

AF274854

Consensus CDS

CCDS94688.1

UniProtKB/TrEMBL

A0A6I8PL69

Related

ENSP00000501402.1, ENST00000674441.1

Conserved Domains (1) summary

pfam00594
Location:1 → 27

Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
NM_024082.4 → NP_076987.3 transmembrane gamma-carboxyglutamic acid protein 3 isoform 1

See identical proteins and their annotated locations for NP_076987.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AF274854, CD631899

Consensus CDS

CCDS14699.1

UniProtKB/Swiss-Prot

A1A523, A1A575, Q8N2N6, Q9BZD7

Related

ENSP00000440217.1, ENST00000538575.5

Conserved Domains (1) summary

pfam00594
Location:24 → 63

Gla; Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

RNA

NR_033262.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF274854, AK074574