PRELID1 - PRELI domain containing 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27166

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
Molecular Function GO Annotation Evidence References 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 References 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
Others PRELID1 NCBI