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Entry version 154 (16 Oct 2019)
Sequence version 2 (03 Apr 2007)
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Protein

Presenilins-associated rhomboid-like protein, mitochondrial

Gene

PARL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain.By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains. EC:3.4.21.105

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei277NucleophileBy similarity1
Active sitei335By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • endopeptidase activity Source: ParkinsonsUK-UCL
  • serine-type endopeptidase activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8949664 Processing of SMDT1

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S54.009

Transport Classification Database

More...
TCDBi
9.B.104.1.6 the rhomboid protease (rhomboid) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Presenilins-associated rhomboid-like protein, mitochondrial (EC:3.4.21.105)
Alternative name(s):
Mitochondrial intramembrane cleaving protease PARL
Cleaved into the following chain:
P-beta
Short name:
Pbeta
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PARL
Synonyms:PSARL
ORF Names:PRO2207
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18253 PARL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607858 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H300

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini53 – 101Mitochondrial matrixSequence analysisAdd BLAST49
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei102 – 121HelicalSequence analysisAdd BLAST20
Topological domaini122 – 167Mitochondrial intermembraneSequence analysisAdd BLAST46
Transmembranei168 – 187HelicalSequence analysisAdd BLAST20
Topological domaini188 – 207Mitochondrial matrixSequence analysisAdd BLAST20
Transmembranei208 – 230HelicalSequence analysisAdd BLAST23
Topological domaini231 – 244Mitochondrial intermembraneSequence analysisAdd BLAST14
Transmembranei245 – 262HelicalSequence analysisAdd BLAST18
Topological domaini263 – 272Mitochondrial matrixSequence analysis10
Transmembranei273 – 289HelicalSequence analysisAdd BLAST17
Topological domaini290 – 295Mitochondrial intermembraneSequence analysis6
Transmembranei296 – 318HelicalSequence analysisAdd BLAST23
Topological domaini319 – 332Mitochondrial matrixSequence analysisAdd BLAST14
Transmembranei333 – 354HelicalSequence analysisAdd BLAST22
Topological domaini355 – 379Mitochondrial intermembraneSequence analysisAdd BLAST25

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi65S → D: Strongly reduces the beta cleavage; when associated with D-69 and D-70. 1 Publication1
Mutagenesisi69T → D: Strongly reduces the beta cleavage; when associated with D-65 and D-70. 1 Publication1
Mutagenesisi70S → D: Strongly reduces the beta cleavage; when associated with D-65 and D-69. 1 Publication1
Mutagenesisi76R → E: Abolishes the beta cleavage. 1 Publication1
Mutagenesisi76R → G: Abolishes the beta cleavage. 1 Publication1
Mutagenesisi77S → E: Abolishes the beta cleavage. 1 Publication1
Mutagenesisi78A → E: Abolishes the beta cleavage. 1 Publication1
Mutagenesisi79L → E: Abolishes the beta cleavage. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
55486

Open Targets

More...
OpenTargetsi
ENSG00000175193

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134939789

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H300

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PARL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
143811433

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 52Mitochondrion1 PublicationAdd BLAST52
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002738653 – 379Presenilins-associated rhomboid-like protein, mitochondrialAdd BLAST327
<p>This subsection of the ‘PTM / Processing’ section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_000002738753 – 77P-beta1 PublicationAdd BLAST25

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei65Phosphoserine1 Publication1
Modified residuei69Phosphothreonine1 Publication1
Modified residuei70Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

P-beta is proteolytically processed (beta-cleavage) in a PARL-dependent manner. The cleavage is inhibited when residues Ser-65, Thr-69 and Ser-70 are all phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H300

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H300

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9H300

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H300

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H300

PeptideAtlas

More...
PeptideAtlasi
Q9H300

PRoteomics IDEntifications database

More...
PRIDEi
Q9H300

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80637 [Q9H300-1]
80638 [Q9H300-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H300

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H300

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9H300

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q9H300

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000175193 Expressed in 227 organ(s), highest expression level in oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H300 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H300 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019545

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PSEN1 and PSEN2. Binds OPA1.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120678, 15 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H300, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000325421

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase S54 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2980 Eukaryota
COG0705 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013063

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230670

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H300

KEGG Orthology (KO)

More...
KOi
K09650

Identification of Orthologs from Complete Genome Data

More...
OMAi
IFANMYV

Database of Orthologous Groups

More...
OrthoDBi
1554324at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H300

TreeFam database of animal gene trees

More...
TreeFami
TF313603

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1540.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR022764 Peptidase_S54_rhomboid_dom
IPR035952 Rhomboid-like_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01694 Rhomboid, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H300-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAWRGWAQRG WGCGQAWGAS VGGRSCEELT AVLTPPQLLG RRFNFFIQQK
60 70 80 90 100
CGFRKAPRKV EPRRSDPGTS GEAYKRSALI PPVEETVFYP SPYPIRSLIK
110 120 130 140 150
PLFFTVGFTG CAFGSAAIWQ YESLKSRVQS YFDGIKADWL DSIRPQKEGD
160 170 180 190 200
FRKEINKWWN NLSDGQRTVT GIIAANVLVF CLWRVPSLQR TMIRYFTSNP
210 220 230 240 250
ASKVLCSPML LSTFSHFSLF HMAANMYVLW SFSSSIVNIL GQEQFMAVYL
260 270 280 290 300
SAGVISNFVS YVGKVATGRY GPSLGASGAI MTVLAAVCTK IPEGRLAIIF
310 320 330 340 350
LPMFTFTAGN ALKAIIAMDT AGMILGWKFF DHAAHLGGAL FGIWYVTYGH
360 370
ELIWKNREPL VKIWHEIRTN GPKKGGGSK
Length:379
Mass (Da):42,190
Last modified:April 3, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2B07EF04C7130B0B
GO
Isoform 2 (identifier: Q9H300-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     203-253: KVLCSPMLLSTFSHFSLFHMAANMYVLWSFSSSIVNILGQEQFMAVYLSAG → S

Show »
Length:329
Mass (Da):36,589
Checksum:i55E752160C632DBF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C122H7C122_HUMAN
Presenilins-associated rhomboid-lik...
PARL
171Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PP66A0A1W2PP66_HUMAN
Presenilins-associated rhomboid-lik...
PARL
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JNP8C9JNP8_HUMAN
Presenilins-associated rhomboid-lik...
PARL
295Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C045H7C045_HUMAN
Presenilins-associated rhomboid-lik...
PARL
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0U0H7C0U0_HUMAN
Presenilins-associated rhomboid-lik...
PARL
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1V6H7C1V6_HUMAN
Presenilins-associated rhomboid-lik...
PARL
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCQ4F8WCQ4_HUMAN
Presenilins-associated rhomboid-lik...
PARL
173Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PS40A0A1W2PS40_HUMAN
Presenilins-associated rhomboid-lik...
PARL
177Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_029801137A → G. Corresponds to variant dbSNP:rs4912470Ensembl.1
Natural variantiVAR_021578262V → L2 PublicationsCorresponds to variant dbSNP:rs3732581Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013310203 – 253KVLCS…YLSAG → S in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF197937 mRNA Translation: AAG28519.1
BC003653 mRNA Translation: AAH03653.1
BC014058 mRNA Translation: AAH14058.1
AF116692 mRNA Translation: AAF71112.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3248.1 [Q9H300-1]
CCDS33897.1 [Q9H300-2]

NCBI Reference Sequences

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RefSeqi
NP_001032728.1, NM_001037639.2 [Q9H300-2]
NP_061092.3, NM_018622.6 [Q9H300-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311101; ENSP00000310676; ENSG00000175193 [Q9H300-2]
ENST00000317096; ENSP00000325421; ENSG00000175193 [Q9H300-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55486

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55486

UCSC genome browser

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UCSCi
uc003fmd.4 human [Q9H300-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF197937 mRNA Translation: AAG28519.1
BC003653 mRNA Translation: AAH03653.1
BC014058 mRNA Translation: AAH14058.1
AF116692 mRNA Translation: AAF71112.1
CCDSiCCDS3248.1 [Q9H300-1]
CCDS33897.1 [Q9H300-2]
RefSeqiNP_001032728.1, NM_001037639.2 [Q9H300-2]
NP_061092.3, NM_018622.6 [Q9H300-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120678, 15 interactors
IntActiQ9H300, 11 interactors
STRINGi9606.ENSP00000325421

Protein family/group databases

MEROPSiS54.009
TCDBi9.B.104.1.6 the rhomboid protease (rhomboid) family

PTM databases

iPTMnetiQ9H300
PhosphoSitePlusiQ9H300
SwissPalmiQ9H300

Polymorphism and mutation databases

BioMutaiPARL
DMDMi143811433

Proteomic databases

EPDiQ9H300
jPOSTiQ9H300
MassIVEiQ9H300
MaxQBiQ9H300
PaxDbiQ9H300
PeptideAtlasiQ9H300
PRIDEiQ9H300
ProteomicsDBi80637 [Q9H300-1]
80638 [Q9H300-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55486

Genome annotation databases

EnsembliENST00000311101; ENSP00000310676; ENSG00000175193 [Q9H300-2]
ENST00000317096; ENSP00000325421; ENSG00000175193 [Q9H300-1]
GeneIDi55486
KEGGihsa:55486
UCSCiuc003fmd.4 human [Q9H300-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55486
DisGeNETi55486

GeneCards: human genes, protein and diseases

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GeneCardsi
PARL
HGNCiHGNC:18253 PARL
HPAiHPA019545
MIMi607858 gene
neXtProtiNX_Q9H300
OpenTargetsiENSG00000175193
PharmGKBiPA134939789

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2980 Eukaryota
COG0705 LUCA
GeneTreeiENSGT00390000013063
HOGENOMiHOG000230670
InParanoidiQ9H300
KOiK09650
OMAiIFANMYV
OrthoDBi1554324at2759
PhylomeDBiQ9H300
TreeFamiTF313603

Enzyme and pathway databases

ReactomeiR-HSA-8949664 Processing of SMDT1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PARL human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PARL

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55486
PharosiQ9H300
PMAP-CutDBiQ9H300

Protein Ontology

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PROi
PR:Q9H300

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175193 Expressed in 227 organ(s), highest expression level in oocyte
ExpressionAtlasiQ9H300 baseline and differential
GenevisibleiQ9H300 HS

Family and domain databases

Gene3Di1.20.1540.10, 1 hit
InterProiView protein in InterPro
IPR022764 Peptidase_S54_rhomboid_dom
IPR035952 Rhomboid-like_sf
PfamiView protein in Pfam
PF01694 Rhomboid, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPARL_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H300
Secondary accession number(s): Q96CQ4, Q9BTJ6, Q9P1E3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 12, 2005
Last sequence update: April 3, 2007
Last modified: October 16, 2019
This is version 154 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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