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PRELID1 PRELI domain containing 1 [ Homo sapiens (human) ]

Gene ID: 27166, updated on 22-Aug-2020

Summary

Official Symbol
PRELID1provided by HGNC
Official Full Name
PRELI domain containing 1provided by HGNC
Primary source
HGNC:HGNC:30255
See related
Ensembl:ENSG00000169230 MIM:605733
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PX19; PRELI; SBBI12; CGI-106
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]
Expression
Ubiquitous expression in colon (RPKM 60.0), small intestine (RPKM 55.2) and 25 other tissues See more
Orthologs

Genomic context

See PRELID1 in Genome Data Viewer
Location:
5q35.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177303799..177306949)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176730763..176733960)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene protein arginine methyltransferase 1 pseudogene 1 Neighboring gene RAB24, member RAS oncogene family Neighboring gene MAX dimerization protein 3 Neighboring gene lectin, mannose binding 2 Neighboring gene ribosomal protein S20 pseudogene 17 Neighboring gene regulator of G protein signaling 14

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87972

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to phosphatidic acid transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mitochondrial membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of T cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cellular respiration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of membrane lipid distribution IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
PRELI domain-containing protein 1, mitochondrial
Names
25 kDa protein of relevant evolutionary and lymphoid interest
px19-like protein

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001271828.2NP_001258757.1  PRELI domain-containing protein 1, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001258757.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AA844687, AF112203, BC007268, BG739785, BU956915
    Consensus CDS
    CCDS64328.1
    UniProtKB/Swiss-Prot
    Q9Y255
    Related
    ENSP00000427097.1, ENST00000503216.5
    Conserved Domains (1) summary
    pfam04707
    Location:16170
    PRELI; PRELI-like family
  2. NM_013237.4NP_037369.1  PRELI domain-containing protein 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_037369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA844687, BC007268, BU956915
    Consensus CDS
    CCDS4415.1
    UniProtKB/Swiss-Prot
    Q9Y255
    Related
    ENSP00000302114.4, ENST00000303204.9
    Conserved Domains (1) summary
    pfam04707
    Location:16172
    PRELI; PRELI-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177303799..177306949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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