1. Gene
  2. PRELID1 - PRELI domain containing 1 Gene

PRELID1 - PRELI domain containing 1 Gene

Homo sapiens

Also known as PX19; PRELI; SBBI12; CGI-106

Gene ID: 27166 | Gene type: protein coding

About PRELID1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,303,799-177,306,949 (from NCBI)

This gene has 8 transcripts (splice variants), 339 orthologues and 3 paralogues. Ubiquitous expression in colon (RPKM 60.0), small intestine (RPKM 55.2) and 25 other tissues.

Summary

This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]

PRELID1 Products(2)

mRNA Protein Name
NM_001271828.2 NP_001258757.1 PRELI domain-containing protein 1, mitochondrial isoform 2 precursor
NM_013237.4 NP_037369.1 PRELI domain-containing protein 1, mitochondrial isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to phosphatidic acid transfer activity IMP
IMP: Inferred from mutant phenotype
23931759 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21364629 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial intermembrane space IDA
IDA: Inferred from direct assay
21364629 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
23931759 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

PRELID1 Protein Structure

PRELI

PRELI: PRELI-like family (16 - 171)

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

PRELI domain-containing protein 1, mitochondrial

25 kDa protein of relevant evolutionary and lymphoid interest

Related Diseases

Diseases Alias
Chronic Closed-Angle Glaucoma

Anatomical Narrow Angle Glaucoma

Chronic Angle-Closure Glaucoma

Chronic Narrow Angle Glaucoma

Secondary Angle-Closure Glaucoma - Synechial

Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28

SCA28

Ataxia, Spinocerebellar, Type 28

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

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
Mus musculus PRELID1 MGD MGI:1913744
Rattus norvegicus PRELID1 RGD RGD:1308082
Macaca mulatta PRELID1 VGNC VGNC:84481
Canis familiaris PRELID1 VGNC VGNC:44955
Felis catus PRELID1 VGNC VGNC:97567
Bos taurus PRELID1 VGNC VGNC:33306