1. Gene
  2. PRRG1 - proline rich and Gla domain 1 Gene

PRRG1 - proline rich and Gla domain 1 Gene

Homo sapiens

Also known as PRGP1

Gene ID: 5638 | Gene type: protein coding

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

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

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