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

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; AllianceGenome:HGNC:30255
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: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (177303799..177306949)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (177847033..177850183)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (176730800..176733950)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The pseudogene PRELID1P6 promotes glioma progression via the hnHNPH1-Akt/mTOR axis.
Title: The pseudogene PRELID1P6 promotes glioma progression via the hnHNPH1-Akt/mTOR axis.
Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins has been reported.
Title: Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins.
This study suggests that the regulation of PRELID1 expression, by alternative polyadenylation and other mechanisms, plays a role in mitochondrial ROS signaling and represents a novel prognostic factor and therapeutic target in cancer
Title: Alternative Polyadenylation of PRELID1 Regulates Mitochondrial ROS Signaling and Cancer Outcomes.
PRELI plays an important role in the suppression of apoptosis in HepG2 cells in response to oxidative stress.
Title: Effects of PRELI in Oxidative-Stressed HepG2 Cells.
Loss of TRIAP1 or PRELI impairs the accumulation of Cardiolipin, facilitates the release of cytochrome c, and renders cells vulnerable to apoptosis upon intrinsic and extrinsic stimulation.
Title: TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid.
PRELI is a vital LEA B cell protein with failsafe genetics
Title: Spare PRELI gene loci: failsafe chromosome insurance?
PRELI interacts with OPA1 to maintain mitochondria structures intact, sustain balanced ion(-)/proton(+) gradients, promote oxidative phosphorylation reactions, regulate pro- and antiapoptotic protein traffic and enable cell responses to induced death.
Title: Vital function of PRELI and essential requirement of its LEA motif.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54137 (e-PCR)
- UniSTS:109374

G09547 (e-PCR)
- UniSTS:1647

STS-N94309 (e-PCR)
- UniSTS:42989

RH69707 (e-PCR)
- UniSTS:87545

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to phosphatidic acid transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cellular respiration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane lipid distribution	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_001271828.2 → NP_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:16 → 170

PRELI; PRELI-like family
NM_013237.4 → NP_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

B2R5F7, D6RD25, Q549N2, Q9UI13, Q9UJS9, Q9Y255

Related

ENSP00000302114.4, ENST00000303204.9

Conserved Domains (1) summary

pfam04707
Location:16 → 172

PRELI; PRELI-like family