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Q8IYB4 (PEX5R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:PEX5L
Synonyms:PEX5R, PXR2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length626 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Alternative products

This entry describes 8 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.
Isoform 6 (identifier: Q8IYB4-6)

The sequence of this isoform differs from the canonical sequence as follows:
     7-30: Missing.
Isoform 7 (identifier: Q8IYB4-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.
     104-168: Missing.
Isoform 8 (identifier: Q8IYB4-8)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 626626PEX5-related protein
PRO_0000106317

Regions

Repeat326 – 35934TPR 1
Repeat360 – 39334TPR 2
Repeat395 – 42733TPR 3
Repeat474 – 50734TPR 4
Repeat509 – 54133TPR 5
Repeat543 – 57533TPR 6

Amino acid modifications

Modified residue2611Phosphoserine By similarity

Natural variations

Alternative sequence1 – 192192Missing in isoform 8.
VSP_046976
Alternative sequence1 – 4343Missing in isoform 5 and isoform 7.
VSP_045136
Alternative sequence7 – 6559Missing in isoform 4.
VSP_044743
Alternative sequence7 – 3024Missing in isoform 6.
VSP_046977
Alternative sequence8 – 3124KSKEQ…VDQKQ → VVGVTLKKKWHCLQKSDLTL AL in isoform 2.
VSP_010435
Alternative sequence32 – 6635Missing in isoform 3.
VSP_010436
Alternative sequence104 – 16865Missing in isoform 7.
VSP_046978
Natural variant2261A → T in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035865

Experimental info

Sequence conflict881E → K in BAH12041. Ref.2
Sequence conflict2161S → Y in AAH36183. Ref.5
Sequence conflict2921R → Q in BAH13081. Ref.2
Sequence conflict3181H → P in BAH11791. Ref.2
Sequence conflict4091H → Y in BAH12054. Ref.2
Sequence conflict4741P → T in AAH36183. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (PXR2b) [UniParc].

Last modified May 24, 2004. Version 2.
Checksum: 07109ABE1B2314C1

FASTA62669,697
        10         20         30         40         50         60 
MYQGHMQKSK EQGYGKLSSD EDLEIIVDQK QGKGSRAADK AVAMVMKEIP REESAEEKPL 

        70         80         90        100        110        120 
LTMTSQLVNE QQESRPLLSP SIDDFLCETK SEAIARPVTS NTAVLTTGLD LLDLSEPVSQ 

       130        140        150        160        170        180 
TQTKAKKSEP SSKTSSLKKK ADGSDLISTD AEQRGQPLRV PETSSLDLDI QTQLEKWDDV 

       190        200        210        220        230        240 
KFHGDRNTKG HPMAERKSSS SRTGSKELLW SSEHRSQPEL SGGKSALNSE SASELELVAP 

       250        260        270        280        290        300 
TQARLTKEHR WGSALLSRNH SLEEEFERAK AAVESDTEFW DKMQAEWEEM ARRNWISENQ 

       310        320        330        340        350        360 
EAQNQVTISA SEKGYYFHTE NPFKDWPGAF EEGLKRLKEG DLPVTILFME AAILQDPGDA 

       370        380        390        400        410        420 
EAWQFLGITQ AENENEQAAI VALQRCLELQ PNNLKALMAL AVSYTNTGHQ QDACDALKNW 

       430        440        450        460        470        480 
IKQNPKYKYL VKSKKGSPGL TRRMSKSPVD SSVLEGVKEL YLEAAHQNGD MIDPDLQTGL 

       490        500        510        520        530        540 
GVLFHLSGEF NRAIDAFNAA LTVRPEDYSL WNRLGATLAN GDRSEEAVEA YTRALEIQPG 

       550        560        570        580        590        600 
FIRSRYNLGI SCINLGAYRE AVSNFLTALS LQRKSRNQQQ VPHPAISGNI WAALRIALSL 

       610        620 
MDQPELFQAA NLGDLDVLLR AFNLDP 

« Hide

Isoform 2 (PXR2a) [UniParc].

Checksum: 1DDBBDDC6F190235
Show »

FASTA62469,440
Isoform 3 [UniParc].

Checksum: 62176C47BB9C5C21
Show »

FASTA59165,925
Isoform 4 [UniParc].

Checksum: DB22E2E2FE2BC3F9
Show »

FASTA56763,205
Isoform 5 [UniParc].

Checksum: BA1CD881FACB3C60
Show »

FASTA58364,989
Isoform 6 [UniParc].

Checksum: 167497DDAC5F36B4
Show »

FASTA60266,977
Isoform 7 [UniParc].

Checksum: D27BA80B03F9F914
Show »

FASTA51858,079
Isoform 8 [UniParc].

Checksum: 510C8912004FB8F9
Show »

FASTA43448,529

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4; 5; 6; 7 AND 8).
Tissue: Amygdala, Brain, Corpus callosum 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. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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.
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.
CCDSCCDS3236.1. [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]
RefSeqNP_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_006713719.1. XM_006713656.1. [Q8IYB4-5]
UniGeneHs.235331.

3D structure databases

ProteinModelPortalQ8IYB4.
SMRQ8IYB4. Positions 314-625.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119607. 1 interaction.
DIPDIP-58547N.
STRING9606.ENSP00000419975.

PTM databases

PhosphoSiteQ8IYB4.

Polymorphism databases

DMDM47606040.

Proteomic databases

PaxDbQ8IYB4.
PRIDEQ8IYB4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263962; 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]
GeneID51555.
KEGGhsa:51555.
UCSCuc003fki.2. human. [Q8IYB4-1]
uc003fkj.2. human. [Q8IYB4-3]
uc010hxd.2. human. [Q8IYB4-2]

Organism-specific databases

CTD51555.
GeneCardsGC03M179512.
HGNCHGNC:30024. PEX5L.
HPAHPA040216.
MIM611058. gene.
neXtProtNX_Q8IYB4.
PharmGKBPA134892044.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOGENOMHOG000158146.
HOVERGENHBG053575.
InParanoidQ8IYB4.
OMAQPLRGPE.
OrthoDBEOG793B77.
PhylomeDBQ8IYB4.
TreeFamTF315044.

Gene expression databases

ArrayExpressQ8IYB4.
BgeeQ8IYB4.
CleanExHS_PEX5L.
GenevestigatorQ8IYB4.

Family and domain databases

Gene3D1.25.40.10. 2 hits.
InterProIPR024112. PEX5-rel.
IPR024111. PTS1R_family.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERPTHR10130. PTHR10130. 1 hit.
PTHR10130:SF1. PTHR10130:SF1. 1 hit.
PfamPF00515. TPR_1. 2 hits.
[Graphical view]
SMARTSM00028. TPR. 5 hits.
[Graphical view]
PROSITEPS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi51555.
NextBio55344.
PROQ8IYB4.
SOURCESearch...

Entry information

Entry namePEX5R_HUMAN
AccessionPrimary (citable) accession number: Q8IYB4
Secondary accession number(s): B7Z2A5 expand/collapse secondary AC list , B7Z305, B7Z318, B7Z5Z5, B7Z8P2, E7EUV8, E7EUZ0, E9PEC1, E9PH97, Q9NQD1, Q9P2U3, Q9P2U4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: May 24, 2004
Last modified: July 9, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM