PRRG1 - proline rich and Gla domain 1 Gene

Also Known as PRGP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5638

About PRRG1

Cytogenetic location: Xp21.1 Genomic coordinates (GRCh38): X:37,349,364-37,457,291 (from NCBI)

This gene has 9 transcripts (splice variants), 203 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 6.8), gall bladder (RPKM 4.8) and 23 other tissues.

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]

PRRG1 Products (5)

mRNA Protein Name
NM_000950.3 NP_000941.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
NM_001142395.2 NP_001135867.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
NM_001173486.2 NP_001166957.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 2 precursor
NM_001173489.2 NP_001166960.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
NM_001173490.2 NP_001166961.1 transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRRG1 Protein Structure

Gla

Gla: Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain (25 - 65)

  • 0
  • 100
  • 200
  • 218 a.a.
Protein Preferred Names Protein Names

transmembrane gamma-carboxyglutamic acid protein 1

  • proline rich Gla (G-carboxyglutamic acid) 1

PRRG1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PRRG1 O14668 UQCRH Homo sapiens P07919 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
  • VKCFD1

  • Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1

  • Vitamin K-Dependent Coagulation Defect

  • Multiple Coagulation Factor Deficiency Iii

  • Mcfd3

  • Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1

  • Vkcfd

  • Familial Multiple Coagulation Factor Deficiency Iii

  • Fmfd Iii

  • Factors Ii, Vii, Ix, And X, Combined Deficiency Of

  • Glutamic Acid, Deficient Gamma-Carboxylation Of

Meckel Syndrome, Type 7
  • Meckel Syndrome 7

  • Nphp3-Related Meckel-Like Syndrome

  • MKS7

  • Goldston Syndrome

  • Meckel Syndrome Type 7

  • Meckel-Like Syndrome Type 1

  • Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome

  • Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst

  • Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst

  • Meckel-Gruber Syndrome, Type 7

  • Dandy-Walker Cyst With Renal-Hepatic-Pancreatic Dysplasia

Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors
  • Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X

  • Vkcfd

Vitamin K Deficiency Bleeding
  • Vitamin K Deficiency

  • Deficiency Of Vitamin K

  • Vitamin K

  • Vitamin K Deficiency Hemorrhagic Disease

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
  • Wagr Syndrome

  • 11p Partial Monosomy Syndrome

  • Chromosome 11p13 Deletion Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

  • 11p Deletion Syndrome

  • Chromosome 11p Deletion Syndrome

  • Wagr Complex

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

  • Deletion 11p13

  • WAGR

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

  • Chromosome 11p Deletion

  • 11p Deletion

  • 11p Monosomy

  • Deletion 11p

  • Monosomy 11p

  • Partial Monosomy 11p

  • Agr Triad

  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

  • Wagr Contiguous Gene Syndrome

  • Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

  • Del(11)(P13)

  • Monosomy 11p13

  • Chromosome 11, Deletion 11p

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus PRRG1 VGNC VGNC:69084
Canis familiaris PRRG1 VGNC VGNC:45055
Rattus norvegicus PRRG1 RGD RGD:1561320
Bos taurus PRRG1 VGNC VGNC:106878
Mus musculus PRRG1 MGD MGI:1917364
Others PRRG1 NCBI