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Protein

PEX5-related protein

Gene

PEX5L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • peroxisome matrix targeting signal-1 binding Source: UniProtKB
  • peroxisome targeting sequence binding Source: UniProtKB
  • small GTPase binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

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
Gene namesi
Name:PEX5L
Synonyms:PEX5R, PXR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:30024. PEX5L.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • peroxisomal membrane Source: GO_Central
  • receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi51555.
OpenTargetsiENSG00000114757.
PharmGKBiPA134892044.

Polymorphism and mutation databases

BioMutaiPEX5L.
DMDMi47606040.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063171 – 626PEX5-related proteinAdd BLAST626

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei205PhosphoserineBy similarity1
Modified residuei253PhosphoserineBy similarity1
Modified residuei257PhosphoserineBy similarity1
Modified residuei261PhosphoserineBy similarity1
Modified residuei445PhosphoserineBy similarity1
Modified residuei447PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8IYB4.
PeptideAtlasiQ8IYB4.
PRIDEiQ8IYB4.

PTM databases

iPTMnetiQ8IYB4.
PhosphoSitePlusiQ8IYB4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000114757.
CleanExiHS_PEX5L.
ExpressionAtlasiQ8IYB4. baseline and differential.
GenevisibleiQ8IYB4. HS.

Organism-specific databases

HPAiHPA058026.

Interactioni

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.By similarity

GO - Molecular functioni

  • small GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119607. 1 interactor.
DIPiDIP-58547N.
STRINGi9606.ENSP00000419975.

Structurei

3D structure databases

ProteinModelPortaliQ8IYB4.
SMRiQ8IYB4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati326 – 359TPR 1Add BLAST34
Repeati360 – 393TPR 2Add BLAST34
Repeati395 – 427TPR 3Add BLAST33
Repeati474 – 507TPR 4Add BLAST34
Repeati509 – 541TPR 5Add BLAST33
Repeati543 – 575TPR 6Add BLAST33

Sequence similaritiesi

Contains 6 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1125. Eukaryota.
ENOG410XQ6Q. LUCA.
GeneTreeiENSGT00390000013941.
HOGENOMiHOG000158146.
HOVERGENiHBG053575.
InParanoidiQ8IYB4.
KOiK13342.
OMAiHMQKSKE.
OrthoDBiEOG091G07HM.
PhylomeDBiQ8IYB4.
TreeFamiTF315044.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR024112. PEX5-rel.
IPR024111. PTS1R_family.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR10130. PTHR10130. 1 hit.
PTHR10130:SF1. PTHR10130:SF1. 1 hit.
PfamiPF13181. TPR_8. 2 hits.
[Graphical view]
SMARTiSM00028. TPR. 5 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Natural variantiVAR_035865226A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs146906651dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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. [Q8IYB4-7]
XP_011511193.1. XM_011512891.2. [Q8IYB4-8]
XP_011511194.1. XM_011512892.2. [Q8IYB4-8]
XP_016862095.1. XM_017006606.1. [Q8IYB4-8]
XP_016862096.1. XM_017006607.1. [Q8IYB4-8]
XP_016862097.1. XM_017006608.1. [Q8IYB4-8]
XP_016862098.1. XM_017006609.1. [Q8IYB4-8]
XP_016862099.1. XM_017006610.1. [Q8IYB4-8]
XP_016862100.1. XM_017006611.1. [Q8IYB4-8]
UniGeneiHs.235331.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. [Q8IYB4-7]
XP_011511193.1. XM_011512891.2. [Q8IYB4-8]
XP_011511194.1. XM_011512892.2. [Q8IYB4-8]
XP_016862095.1. XM_017006606.1. [Q8IYB4-8]
XP_016862096.1. XM_017006607.1. [Q8IYB4-8]
XP_016862097.1. XM_017006608.1. [Q8IYB4-8]
XP_016862098.1. XM_017006609.1. [Q8IYB4-8]
XP_016862099.1. XM_017006610.1. [Q8IYB4-8]
XP_016862100.1. XM_017006611.1. [Q8IYB4-8]
UniGeneiHs.235331.

3D structure databases

ProteinModelPortaliQ8IYB4.
SMRiQ8IYB4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119607. 1 interactor.
DIPiDIP-58547N.
STRINGi9606.ENSP00000419975.

PTM databases

iPTMnetiQ8IYB4.
PhosphoSitePlusiQ8IYB4.

Polymorphism and mutation databases

BioMutaiPEX5L.
DMDMi47606040.

Proteomic databases

PaxDbiQ8IYB4.
PeptideAtlasiQ8IYB4.
PRIDEiQ8IYB4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

CTDi51555.
DisGeNETi51555.
GeneCardsiPEX5L.
HGNCiHGNC:30024. PEX5L.
HPAiHPA058026.
MIMi611058. gene.
neXtProtiNX_Q8IYB4.
OpenTargetsiENSG00000114757.
PharmGKBiPA134892044.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1125. Eukaryota.
ENOG410XQ6Q. LUCA.
GeneTreeiENSGT00390000013941.
HOGENOMiHOG000158146.
HOVERGENiHBG053575.
InParanoidiQ8IYB4.
KOiK13342.
OMAiHMQKSKE.
OrthoDBiEOG091G07HM.
PhylomeDBiQ8IYB4.
TreeFamiTF315044.

Miscellaneous databases

ChiTaRSiPEX5L. human.
GenomeRNAii51555.
PROiQ8IYB4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114757.
CleanExiHS_PEX5L.
ExpressionAtlasiQ8IYB4. baseline and differential.
GenevisibleiQ8IYB4. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR024112. PEX5-rel.
IPR024111. PTS1R_family.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR10130. PTHR10130. 1 hit.
PTHR10130:SF1. PTHR10130:SF1. 1 hit.
PfamiPF13181. TPR_8. 2 hits.
[Graphical view]
SMARTiSM00028. TPR. 5 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 1 hit.
PROSITEiPS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPEX5R_HUMAN
AccessioniPrimary (citable) accession number: Q8IYB4
Secondary accession number(s): B7Z2A5
, B7Z305, B7Z318, B7Z5Z5, B7Z8P2, E7EUV8, E7EUZ0, E9PEC1, E9PH97, Q9NQD1, Q9P2U3, Q9P2U4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: November 2, 2016
This is version 132 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.