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

Gene ID: 55486, updated on 19-Sep-2024

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; AllianceGenome:HGNC:18253
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
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Genomic context

See PARL in Genome Data Viewer
Location:
3q27.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183826489..183884880, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186635981..186694605, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183547059..183602668, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene YEATS domain containing 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:183527422-183528621 Neighboring gene YEATS2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:183535409-183536020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14950 Neighboring gene MAP6 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14951 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:183602698-183602848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20898 Neighboring gene microRNA 4448 Neighboring gene ribosomal protein SA pseudogene 31

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables serine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in membrane protein proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane protein proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in membrane protein proteolysis TAS
Traceable Author Statement
more info
PubMed 
involved_in mitochondrial fusion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteolysis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mitophagy ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of protein targeting to mitochondrion IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of protein targeting to mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of proteolysis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal peptide processing IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
presenilin-associated rhomboid-like protein, mitochondrial
Names
mitochondrial intramembrane-cleaving protease PARL
presenilins-associated rhomboid-like protein, mitochondrial
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_024309396.1
XP_024309397.1
XP_024309399.1
XP_047304474.1
XP_054203151.1
XP_054203152.1
XP_054203153.1
XP_054203154.1
XP_054203155.1
XP_054203156.1
XP_054203157.1
XP_054203158.1

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.

Genomic

  1. NG_046164.2 RefSeqGene

    Range
    5000..60609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037639.3NP_001032728.1  presenilin-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  presenilin-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  presenilin-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  presenilin-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  presenilin-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
    Q96CQ4, Q9BTJ6, Q9H300, Q9P1E3
    UniProtKB/TrEMBL
    A0A1W2PP11
    Related
    ENSP00000325421.5, ENST00000317096.9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    183826489..183884880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006802.2XP_016862291.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X4

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

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

  4. XM_005247582.6XP_005247639.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A1W2PP11
    Conserved Domains (1) summary
    pfam01694
    Location:209351
    Rhomboid; Rhomboid family
  5. XM_024453628.2XP_024309396.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family
  6. XM_047448518.1XP_047304474.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

  7. XM_024453629.2XP_024309397.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family
  8. XM_024453631.2XP_024309399.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

    Conserved Domains (1) summary
    pfam01694
    Location:18160
    Rhomboid; Rhomboid family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    186635981..186694605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347179.1XP_054203154.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X4

  2. XM_054347178.1XP_054203153.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X3

  3. XM_054347177.1XP_054203152.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X2

  4. XM_054347176.1XP_054203151.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X1

    UniProtKB/TrEMBL
    A0A1W2PP11
  5. XM_054347180.1XP_054203155.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

  6. XM_054347183.1XP_054203158.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

  7. XM_054347181.1XP_054203156.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

  8. XM_054347182.1XP_054203157.1  presenilin-associated rhomboid-like protein, mitochondrial isoform X5

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.