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Entry version 157 (12 Aug 2020)
Sequence version 2 (24 May 2004)
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Protein

PEX5-related protein

Gene

PEX5L

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

Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence.By similarity

<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

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8IYB4

<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%5Fand%5Ftaxonomy%5Fsection">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:
PEX5-related protein
Alternative name(s):
PEX2-related protein
PEX5-like protein
Peroxin-5-related protein
Peroxisome biogenesis factor 5-like
Tetratricopeptide repeat-containing Rab8b-interacting protein
Short name:
Pex5Rp
Short name:
TRIP8b
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PEX5L
Synonyms:PEX5R, PXR2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000114757.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30024, PEX5L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611058, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IYB4

<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

<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>Keywords - Cellular componenti

Cytoplasm, Membrane

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
51555

Open Targets

More...
OpenTargetsi
ENSG00000114757

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134892044

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IYB4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PEX5L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
47606040

<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 polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001063171 – 626PEX5-related proteinAdd BLAST626

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 residuei205PhosphoserineBy similarity1
Modified residuei253PhosphoserineBy similarity1
Modified residuei257PhosphoserineBy similarity1
Modified residuei261PhosphoserineBy similarity1
Modified residuei445PhosphoserineBy similarity1
Modified residuei447PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IYB4

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

More...
PaxDbi
Q8IYB4

PeptideAtlas

More...
PeptideAtlasi
Q8IYB4

PRoteomics IDEntifications database

More...
PRIDEi
Q8IYB4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
18507
18530
19857
20485
6966
71142 [Q8IYB4-1]
71143 [Q8IYB4-2]
71144 [Q8IYB4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IYB4

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

More...
PhosphoSitePlusi
Q8IYB4

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mainly expressed in brain. Also expressed in pancreas, testis and pituitary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114757, Expressed in corpus callosum and 128 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IYB4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IYB4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000114757, Group enriched (brain, parathyroid gland)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAB8B.

Forms an obligate 4:4 complex with HCN2 (By similarity). May interact with the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type); the relevance of such interaction is however unclear (PubMed:11463335).

Interacts with HCN3 (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
119607, 1 interactor

Database of interacting proteins

More...
DIPi
DIP-58547N

Protein interaction database and analysis system

More...
IntActi
Q8IYB4, 8 interactors

Molecular INTeraction database

More...
MINTi
Q8IYB4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000419975

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q8IYB4

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IYB4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IYB4

Database of comparative protein structure models

More...
ModBasei
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati326 – 359TPR 1Add BLAST34
Repeati360 – 393TPR 2Add BLAST34
Repeati395 – 427TPR 3Add BLAST33
Repeati474 – 507TPR 4Add BLAST34
Repeati509 – 541TPR 5Add BLAST33
Repeati543 – 575TPR 6Add BLAST33

<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

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1125, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155931

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_013516_5_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IYB4

KEGG Orthology (KO)

More...
KOi
K13342

Identification of Orthologs from Complete Genome Data

More...
OMAi
KYKYIAK

Database of Orthologous Groups

More...
OrthoDBi
588648at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IYB4

TreeFam database of animal gene trees

More...
TreeFami
TF315044

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024112, PEX5-rel
IPR024111, PTS1R_family
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

The PANTHER Classification System

More...
PANTHERi
PTHR10130, PTHR10130, 1 hit
PTHR10130:SF1, PTHR10130:SF1, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13181, TPR_8, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00028, TPR, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452, SSF48452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005, TPR, 5 hits
PS50293, TPR_REGION, 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%5Flength">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 (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 8 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IYB4-1) [UniParc]FASTAAdd to basket
Also known as: PXR2b

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
MYQGHMQKSK EQGYGKLSSD EDLEIIVDQK QGKGSRAADK AVAMVMKEIP
60 70 80 90 100
REESAEEKPL LTMTSQLVNE QQESRPLLSP SIDDFLCETK SEAIARPVTS
110 120 130 140 150
NTAVLTTGLD LLDLSEPVSQ TQTKAKKSEP SSKTSSLKKK ADGSDLISTD
160 170 180 190 200
AEQRGQPLRV PETSSLDLDI QTQLEKWDDV KFHGDRNTKG HPMAERKSSS
210 220 230 240 250
SRTGSKELLW SSEHRSQPEL SGGKSALNSE SASELELVAP TQARLTKEHR
260 270 280 290 300
WGSALLSRNH SLEEEFERAK AAVESDTEFW DKMQAEWEEM ARRNWISENQ
310 320 330 340 350
EAQNQVTISA SEKGYYFHTE NPFKDWPGAF EEGLKRLKEG DLPVTILFME
360 370 380 390 400
AAILQDPGDA EAWQFLGITQ AENENEQAAI VALQRCLELQ PNNLKALMAL
410 420 430 440 450
AVSYTNTGHQ QDACDALKNW IKQNPKYKYL VKSKKGSPGL TRRMSKSPVD
460 470 480 490 500
SSVLEGVKEL YLEAAHQNGD MIDPDLQTGL GVLFHLSGEF NRAIDAFNAA
510 520 530 540 550
LTVRPEDYSL WNRLGATLAN GDRSEEAVEA YTRALEIQPG FIRSRYNLGI
560 570 580 590 600
SCINLGAYRE AVSNFLTALS LQRKSRNQQQ VPHPAISGNI WAALRIALSL
610 620
MDQPELFQAA NLGDLDVLLR AFNLDP
Length:626
Mass (Da):69,697
Last modified:May 24, 2004 - 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:i07109ABE1B2314C1
GO
Isoform 2 (identifier: Q8IYB4-2) [UniParc]FASTAAdd to basket
Also known as: PXR2a

The sequence of this isoform differs from the canonical sequence as follows:
     8-31: KSKEQGYGKLSSDEDLEIIVDQKQ → VVGVTLKKKWHCLQKSDLTLAL

Show »
Length:624
Mass (Da):69,440
Checksum:i1DDBBDDC6F190235
GO
Isoform 3 (identifier: Q8IYB4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-66: Missing.

Show »
Length:591
Mass (Da):65,925
Checksum:i62176C47BB9C5C21
GO
Isoform 4 (identifier: Q8IYB4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-65: Missing.

Show »
Length:567
Mass (Da):63,205
Checksum:iDB22E2E2FE2BC3F9
GO
Isoform 5 (identifier: Q8IYB4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Show »
Length:583
Mass (Da):64,989
Checksum:iBA1CD881FACB3C60
GO
Isoform 6 (identifier: Q8IYB4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-30: Missing.

Show »
Length:602
Mass (Da):66,977
Checksum:i167497DDAC5F36B4
GO
Isoform 7 (identifier: Q8IYB4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.
     104-168: Missing.

Show »
Length:518
Mass (Da):58,079
Checksum:iD27BA80B03F9F914
GO
Isoform 8 (identifier: Q8IYB4-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-192: Missing.

Show »
Length:434
Mass (Da):48,529
Checksum:i510C8912004FB8F9
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZ09C9IZ09_HUMAN
PEX5-related protein
PEX5L
70Annotation 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>
C9JUZ5C9JUZ5_HUMAN
PEX5-related protein
PEX5L
203Annotation 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>
C9JB85C9JB85_HUMAN
PEX5-related protein
PEX5L
194Annotation 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>
C9JZE2C9JZE2_HUMAN
PEX5-related protein
PEX5L
34Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAC01120 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti88E → K in BAH12041 (PubMed:14702039).Curated1
Sequence conflicti216S → Y in AAH36183 (PubMed:15489334).Curated1
Sequence conflicti292R → Q in BAH13081 (PubMed:14702039).Curated1
Sequence conflicti318H → P in BAH11791 (PubMed:14702039).Curated1
Sequence conflicti409H → Y in BAH12054 (PubMed:14702039).Curated1
Sequence conflicti474P → T in AAH36183 (PubMed:15489334).Curated1

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_035865226A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs146906651Ensembl.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_0469761 – 192Missing in isoform 8. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_0451361 – 43Missing in isoform 5 and isoform 7. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0447437 – 65Missing in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0469777 – 30Missing in isoform 6. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_0104358 – 31KSKEQ…VDQKQ → VVGVTLKKKWHCLQKSDLTL AL in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_01043632 – 66Missing in isoform 3. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_046978104 – 168Missing in isoform 7. 1 PublicationAdd BLAST65

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB032592 mRNA Translation: BAA92878.1
AB032593 mRNA Translation: BAA92879.1
AK294501 mRNA Translation: BAH11791.1
AK295349 mRNA Translation: BAH12041.1
AK295386 mRNA Translation: BAH12054.1
AK299633 mRNA Translation: BAH13081.1
AK303716 mRNA Translation: BAH14028.1
AC007687 Genomic DNA No translation available.
AC090024 Genomic DNA No translation available.
AC092939 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78382.1
BC036183 mRNA Translation: AAH36183.2
AJ245503 mRNA Translation: CAC01120.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3236.1 [Q8IYB4-1]
CCDS58861.1 [Q8IYB4-8]
CCDS58862.1 [Q8IYB4-7]
CCDS58863.1 [Q8IYB4-5]
CCDS58864.1 [Q8IYB4-4]
CCDS58865.1 [Q8IYB4-6]
CCDS58866.1 [Q8IYB4-2]
CCDS58867.1 [Q8IYB4-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001243679.1, NM_001256750.1 [Q8IYB4-2]
NP_001243680.1, NM_001256751.1 [Q8IYB4-6]
NP_001243681.1, NM_001256752.1 [Q8IYB4-3]
NP_001243682.1, NM_001256753.1 [Q8IYB4-4]
NP_001243683.1, NM_001256754.1 [Q8IYB4-5]
NP_001243684.1, NM_001256755.1 [Q8IYB4-7]
NP_001243685.1, NM_001256756.1 [Q8IYB4-8]
NP_057643.1, NM_016559.2 [Q8IYB4-1]
XP_011511189.1, XM_011512887.2
XP_011511193.1, XM_011512891.2 [Q8IYB4-8]
XP_011511194.1, XM_011512892.2 [Q8IYB4-8]
XP_016862095.1, XM_017006606.1
XP_016862096.1, XM_017006607.1 [Q8IYB4-8]
XP_016862097.1, XM_017006608.1 [Q8IYB4-8]
XP_016862098.1, XM_017006609.1
XP_016862099.1, XM_017006610.1
XP_016862100.1, XM_017006611.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263962; ENSP00000263962; ENSG00000114757 [Q8IYB4-2]
ENST00000392649; ENSP00000376420; ENSG00000114757 [Q8IYB4-7]
ENST00000464614; ENSP00000417270; ENSG00000114757 [Q8IYB4-7]
ENST00000465751; ENSP00000419348; ENSG00000114757 [Q8IYB4-6]
ENST00000467460; ENSP00000419975; ENSG00000114757 [Q8IYB4-1]
ENST00000468741; ENSP00000418665; ENSG00000114757 [Q8IYB4-8]
ENST00000472994; ENSP00000418054; ENSG00000114757 [Q8IYB4-4]
ENST00000476138; ENSP00000420555; ENSG00000114757 [Q8IYB4-5]
ENST00000485199; ENSP00000418440; ENSG00000114757 [Q8IYB4-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51555

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51555

UCSC genome browser

More...
UCSCi
uc003fki.3, human [Q8IYB4-1]

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
AB032592 mRNA Translation: BAA92878.1
AB032593 mRNA Translation: BAA92879.1
AK294501 mRNA Translation: BAH11791.1
AK295349 mRNA Translation: BAH12041.1
AK295386 mRNA Translation: BAH12054.1
AK299633 mRNA Translation: BAH13081.1
AK303716 mRNA Translation: BAH14028.1
AC007687 Genomic DNA No translation available.
AC090024 Genomic DNA No translation available.
AC092939 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78382.1
BC036183 mRNA Translation: AAH36183.2
AJ245503 mRNA Translation: CAC01120.1 Different initiation.
CCDSiCCDS3236.1 [Q8IYB4-1]
CCDS58861.1 [Q8IYB4-8]
CCDS58862.1 [Q8IYB4-7]
CCDS58863.1 [Q8IYB4-5]
CCDS58864.1 [Q8IYB4-4]
CCDS58865.1 [Q8IYB4-6]
CCDS58866.1 [Q8IYB4-2]
CCDS58867.1 [Q8IYB4-3]
RefSeqiNP_001243679.1, NM_001256750.1 [Q8IYB4-2]
NP_001243680.1, NM_001256751.1 [Q8IYB4-6]
NP_001243681.1, NM_001256752.1 [Q8IYB4-3]
NP_001243682.1, NM_001256753.1 [Q8IYB4-4]
NP_001243683.1, NM_001256754.1 [Q8IYB4-5]
NP_001243684.1, NM_001256755.1 [Q8IYB4-7]
NP_001243685.1, NM_001256756.1 [Q8IYB4-8]
NP_057643.1, NM_016559.2 [Q8IYB4-1]
XP_011511189.1, XM_011512887.2
XP_011511193.1, XM_011512891.2 [Q8IYB4-8]
XP_011511194.1, XM_011512892.2 [Q8IYB4-8]
XP_016862095.1, XM_017006606.1
XP_016862096.1, XM_017006607.1 [Q8IYB4-8]
XP_016862097.1, XM_017006608.1 [Q8IYB4-8]
XP_016862098.1, XM_017006609.1
XP_016862099.1, XM_017006610.1
XP_016862100.1, XM_017006611.1

3D structure databases

SMRiQ8IYB4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119607, 1 interactor
DIPiDIP-58547N
IntActiQ8IYB4, 8 interactors
MINTiQ8IYB4
STRINGi9606.ENSP00000419975

Chemistry databases

BindingDBiQ8IYB4

PTM databases

iPTMnetiQ8IYB4
PhosphoSitePlusiQ8IYB4

Polymorphism and mutation databases

BioMutaiPEX5L
DMDMi47606040

Proteomic databases

MassIVEiQ8IYB4
PaxDbiQ8IYB4
PeptideAtlasiQ8IYB4
PRIDEiQ8IYB4
ProteomicsDBi18507
18530
19857
20485
6966
71142 [Q8IYB4-1]
71143 [Q8IYB4-2]
71144 [Q8IYB4-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
54548, 43 antibodies

Genome annotation databases

EnsembliENST00000263962; ENSP00000263962; ENSG00000114757 [Q8IYB4-2]
ENST00000392649; ENSP00000376420; ENSG00000114757 [Q8IYB4-7]
ENST00000464614; ENSP00000417270; ENSG00000114757 [Q8IYB4-7]
ENST00000465751; ENSP00000419348; ENSG00000114757 [Q8IYB4-6]
ENST00000467460; ENSP00000419975; ENSG00000114757 [Q8IYB4-1]
ENST00000468741; ENSP00000418665; ENSG00000114757 [Q8IYB4-8]
ENST00000472994; ENSP00000418054; ENSG00000114757 [Q8IYB4-4]
ENST00000476138; ENSP00000420555; ENSG00000114757 [Q8IYB4-5]
ENST00000485199; ENSP00000418440; ENSG00000114757 [Q8IYB4-3]
GeneIDi51555
KEGGihsa:51555
UCSCiuc003fki.3, human [Q8IYB4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51555
DisGeNETi51555
EuPathDBiHostDB:ENSG00000114757.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PEX5L
HGNCiHGNC:30024, PEX5L
HPAiENSG00000114757, Group enriched (brain, parathyroid gland)
MIMi611058, gene
neXtProtiNX_Q8IYB4
OpenTargetsiENSG00000114757
PharmGKBiPA134892044

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1125, Eukaryota
GeneTreeiENSGT00940000155931
HOGENOMiCLU_013516_5_0_1
InParanoidiQ8IYB4
KOiK13342
OMAiKYKYIAK
OrthoDBi588648at2759
PhylomeDBiQ8IYB4
TreeFamiTF315044

Enzyme and pathway databases

PathwayCommonsiQ8IYB4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
51555, 4 hits in 865 CRISPR screens

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

More...
ChiTaRSi
PEX5L, human

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

More...
GenomeRNAii
51555
PharosiQ8IYB4, Tbio

Protein Ontology

More...
PROi
PR:Q8IYB4
RNActiQ8IYB4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114757, Expressed in corpus callosum and 128 other tissues
ExpressionAtlasiQ8IYB4, baseline and differential
GenevisibleiQ8IYB4, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR024112, PEX5-rel
IPR024111, PTS1R_family
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PANTHERiPTHR10130, PTHR10130, 1 hit
PTHR10130:SF1, PTHR10130:SF1, 1 hit
PfamiView protein in Pfam
PF13181, TPR_8, 2 hits
SMARTiView protein in SMART
SM00028, TPR, 5 hits
SUPFAMiSSF48452, SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005, TPR, 5 hits
PS50293, TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiPEX5R_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: Q8IYB4
Secondary accession number(s): B7Z2A5
, B7Z305, B7Z318, B7Z5Z5, B7Z8P2, E7EUV8, E7EUZ0, E9PEC1, E9PH97, Q9NQD1, Q9P2U3, Q9P2U4
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: August 12, 2020
This is version 157 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

Reference proteome

Documents

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