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PARL presenilin associated rhomboid like [ Homo sapiens (human) ]

Gene ID: 55486, updated on 12-Oct-2019

Summary

Official Symbol
PARLprovided by HGNC
Official Full Name
presenilin associated rhomboid likeprovided by HGNC
Primary source
HGNC:HGNC:18253
See related
Ensembl:ENSG00000175193 MIM:607858
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
PSARL; PSARL1; RHBDS1; PRO2207; PSENIP2
Summary
This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]
Expression
Ubiquitous expression in fat (RPKM 16.5), colon (RPKM 14.6) and 25 other tissues See more
Orthologs

Genomic context

See PARL in Genome Data Viewer
Location:
3q27.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (183826488..183884901, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183543522..183602693, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene YEATS domain containing 2 Neighboring gene YEATS2 antisense RNA 1 Neighboring gene MAP6 domain containing 1 Neighboring gene microRNA 4448 Neighboring gene ribosomal protein SA pseudogene 31

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

NHGRI GWAS Catalog

Description
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
membrane protein proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
membrane protein proteolysis TAS
Traceable Author Statement
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
proteolysis IGI
Inferred from Genetic Interaction
more info
PubMed 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein targeting to mitochondrion IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of protein targeting to mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
regulation of proteolysis IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
presenilins-associated rhomboid-like protein, mitochondrial
Names
mitochondrial intramembrane-cleaving protease PARL
rhomboid 7 homolog 1
NP_001032728.1
NP_001311365.1
NP_001311366.1
NP_001311367.1
NP_061092.3
XP_005247639.1
XP_016862289.1
XP_016862290.1
XP_016862291.1
XP_016862292.1
XP_024309396.1
XP_024309397.1
XP_024309398.1
XP_024309399.1
XP_024309400.1
XP_024309401.1

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.

Genomic

  1. NG_046164.1 RefSeqGene

    Range
    5026..60635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037639.3NP_001032728.1  presenilins-associated rhomboid-like protein, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001032728.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. The encoded isoform (2) may be localized to the mitochondria.
    Source sequence(s)
    AC131160, BC003653, BC014058, CA417847
    Consensus CDS
    CCDS33897.1
    UniProtKB/Swiss-Prot
    Q9H300
    Related
    ENSP00000310676.5, ENST00000311101.9
    Conserved Domains (1) summary
    cl21536
    Location:201304
    Rhomboid; Rhomboid family
  2. NM_001324436.2NP_001311365.1  presenilins-associated rhomboid-like protein, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3, which may be localized to the mitochondria.
    Source sequence(s)
    AC068644, AC131160, CA417847
    Conserved Domains (1) summary
    cl21536
    Location:209316
    Rhomboid; Rhomboid family
  3. NM_001324437.2NP_001311366.1  presenilins-associated rhomboid-like protein, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform 4, which may be localized to the mitochondria.
    Source sequence(s)
    AC068644, AC131160, CA417847
    Consensus CDS
    CCDS82878.1
    UniProtKB/TrEMBL
    C9JNP8
    Related
    ENSP00000402137.1, ENST00000435888.5
    Conserved Domains (1) summary
    cl21536
    Location:219270
    Rhomboid; Rhomboid family
  4. NM_001324438.2NP_001311367.1  presenilins-associated rhomboid-like protein, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes isoform 5, which is localized to the mitochondria.
    Source sequence(s)
    AC068644, AC131160, CA417847
  5. NM_018622.7NP_061092.3  presenilins-associated rhomboid-like protein, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_061092.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1), which is localized to the mitochondria.
    Source sequence(s)
    AC131160, BC014058, CA417847, CB122278
    Consensus CDS
    CCDS3248.1
    UniProtKB/Swiss-Prot
    Q9H300
    Related
    ENSP00000325421.4, ENST00000317096.8
    Conserved Domains (1) summary
    pfam01694
    Location:209350
    Rhomboid; Rhomboid family

RNA

  1. NR_136893.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068644, AC131160, CA417847
    Related
    ENST00000421484.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    183826488..183884901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006802.1XP_016862291.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X4

    Conserved Domains (1) summary
    cl21536
    Location:219267
    Rhomboid; Rhomboid family
  2. XM_017006801.1XP_016862290.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X3

  3. XM_017006800.2XP_016862289.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X2

  4. XM_005247582.5XP_005247639.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01694
    Location:209351
    Rhomboid; Rhomboid family
  5. XM_017006803.1XP_016862292.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X7

  6. XM_024453630.1XP_024309398.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family
  7. XM_024453631.1XP_024309399.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family
  8. XM_024453628.1XP_024309396.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family
  9. XM_024453629.1XP_024309397.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family
  10. XM_024453632.1XP_024309400.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X6

    Conserved Domains (1) summary
    pfam01694
    Location:18163
    Rhomboid; Rhomboid family
  11. XM_024453633.1XP_024309401.1  presenilins-associated rhomboid-like protein, mitochondrial isoform X6

    Related
    ENSP00000491186.1, ENST00000639100.1
    Conserved Domains (1) summary
    pfam01694
    Location:18163
    Rhomboid; Rhomboid family

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001037640.1: Suppressed sequence

    Description
    NM_001037640.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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