Q8IYB4 (PEX5R_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 97.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 626 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence By similarity. |
| Subunit structure | 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. Ref.6 |
| Subcellular location | Cytoplasm By similarity. Membrane; Peripheral membrane protein By similarity. Note: Some fraction is membrane associated via its interaction with RAB8B By similarity. Ref.6 |
| Tissue specificity | Mainly expressed in brain. Also expressed in pancreas, testis and pituitary. Ref.6 |
| Sequence similarities | Belongs to the peroxisomal targeting signal receptor family. Contains 6 TPR repeats. |
| Sequence caution | The sequence CAC01120.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat TPR repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | maintenance of protein location Inferred from electronic annotation. Source: Compara protein import into peroxisome matrix, dockingInferred from Biological aspect of Ancestor. Source: RefGenome regulation of cAMP-mediated signalingInferred from sequence or structural similarity. Source: UniProtKB regulation of membrane potentialInferred from electronic annotation. Source: Compara |
| Cellular_component | cytosol Inferred from Biological aspect of Ancestor. Source: RefGenome dendriteInferred from electronic annotation. Source: Compara peroxisomal membraneInferred from Biological aspect of Ancestor. Source: RefGenome |
| Molecular_function | peroxisome matrix targeting signal-1 binding Inferred from Biological aspect of Ancestor. Source: RefGenome |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8IYB4-1) 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. | ||||||
| Isoform 2 (identifier: Q8IYB4-2) Also known as: PXR2a; The sequence of this isoform differs from the canonical sequence as follows: 8-31: KSKEQGYGKLSSDEDLEIIVDQKQ → VVGVTLKKKWHCLQKSDLTLAL | ||||||
| Isoform 3 (identifier: Q8IYB4-3) The sequence of this isoform differs from the canonical sequence as follows: 32-66: Missing. | ||||||
| Isoform 4 (identifier: Q8IYB4-4) The sequence of this isoform differs from the canonical sequence as follows: 7-65: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q8IYB4-5) The sequence of this isoform differs from the canonical sequence as follows: 1-43: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 626 | 626 | PEX5-related protein | PRO_0000106317 | |||||
Regions | |||||||||
| Repeat | 326 – 359 | 34 | TPR 1 | ||||||
| Repeat | 360 – 393 | 34 | TPR 2 | ||||||
| Repeat | 395 – 427 | 33 | TPR 3 | ||||||
| Repeat | 474 – 507 | 34 | TPR 4 | ||||||
| Repeat | 509 – 541 | 33 | TPR 5 | ||||||
| Repeat | 543 – 575 | 33 | TPR 6 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 261 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 447 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 43 | 43 | Missing in isoform 5. | VSP_045136 | |||||
| Alternative sequence | 7 – 65 | 59 | Missing in isoform 4. | VSP_044743 | |||||
| Alternative sequence | 8 – 31 | 24 | KSKEQ…VDQKQ → VVGVTLKKKWHCLQKSDLTL AL in isoform 2. | VSP_010435 | |||||
| Alternative sequence | 32 – 66 | 35 | Missing in isoform 3. | VSP_010436 | |||||
| Natural variant | 226 | 1 | A → T in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_035865 | |||||
Experimental info | |||||||||
| Sequence conflict | 216 | 1 | S → Y in AAH36183. Ref.5 | ||||||
| Sequence conflict | 318 | 1 | H → P in BAH11791. Ref.2 | ||||||
| Sequence conflict | 474 | 1 | P → T in AAH36183. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A novel peroxisomal targeting signal 1 receptor-like gene, PXR2, preferentially expressed in brain." Sano H., Snider J., Ohta M. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5). Tissue: Amygdala and Kidney. |
| [3] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [6] | "Identification of PEX5p-related novel peroxisome-targeting signal 1 (PTS1)-binding proteins in mammals." Amery L., Sano H., Mannaerts G.P., Snider J., Van Looy J., Fransen M., Van Veldhoven P.P. Biochem. J. 357:635-646(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 264-626, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, POSSIBLE INTERACTION WITH PTS1 PROTEINS. Tissue: Liver. |
| [7] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-226. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB032592 mRNA. Translation: BAA92878.1. AB032593 mRNA. Translation: BAA92879.1. AK294501 mRNA. Translation: BAH11791.1. 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. |
| IPI | IPI00009809. IPI00163742. IPI00477011. IPI00983212. |
| RefSeq | NP_001243679.1. NM_001256750.1. NP_001243680.1. NM_001256751.1. NP_001243681.1. NM_001256752.1. NP_001243682.1. NM_001256753.1. NP_001243683.1. NM_001256754.1. NP_001243684.1. NM_001256755.1. NP_001243685.1. NM_001256756.1. NP_057643.1. NM_016559.2. |
| UniGene | Hs.235331. |
3D structure databases | |
| ProteinModelPortal | Q8IYB4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-58547N. |
| STRING | 9606.ENSP00000419975. |
PTM databases | |
| PhosphoSite | Q8IYB4. |
Polymorphism databases | |
| DMDM | 47606040. |
Proteomic databases | |
| PaxDb | Q8IYB4. |
| PRIDE | Q8IYB4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000263962; ENSP00000263962; ENSG00000114757. ENST00000467460; ENSP00000419975; ENSG00000114757. ENST00000472994; ENSP00000418054; ENSG00000114757. ENST00000476138; ENSP00000420555; ENSG00000114757. ENST00000485199; ENSP00000418440; ENSG00000114757. |
| GeneID | 51555. |
| KEGG | hsa:51555. |
| UCSC | uc003fki.1. human. uc003fkj.1. human. uc010hxd.1. human. |
Organism-specific databases | |
| CTD | 51555. |
| GeneCards | GC03M179512. |
| HGNC | HGNC:30024. PEX5L. |
| HPA | HPA040216. |
| MIM | 611058. gene. |
| neXtProt | NX_Q8IYB4. |
| PharmGKB | PA134892044. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0457. |
| HOGENOM | HOG000158146. |
| HOVERGEN | HBG053575. |
| InParanoid | Q8IYB4. |
| OMA | NSKGHPM. |
| OrthoDB | EOG4ZW59S. |
| PhylomeDB | Q8IYB4. |
Gene expression databases | |
| ArrayExpress | Q8IYB4. |
| Bgee | Q8IYB4. |
| CleanEx | HS_PEX5L. |
| Genevestigator | Q8IYB4. |
| GermOnline | ENSG00000114757. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.10. 2 hits. |
| InterPro | IPR024112. PEX5-rel. IPR024111. PTS1R_family. IPR001440. TPR-1. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view] |
| PANTHER | PTHR10130. PTHR10130. 1 hit. PTHR10130:SF1. PTHR10130:SF1. 1 hit. |
| Pfam | PF00515. TPR_1. 2 hits. [Graphical view] |
| SMART | SM00028. TPR. 5 hits. [Graphical view] |
| PROSITE | PS50005. TPR. 5 hits. PS50293. TPR_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 51555. |
| NextBio | 55344. |
| SOURCE | Search... |
Entry information
| Entry name | PEX5R_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IYB4 Secondary accession number(s): B7Z2A5 Q9P2U4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
