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O00628

- PEX7_HUMAN

UniProt

O00628 - PEX7_HUMAN

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Protein

Peroxisomal targeting signal 2 receptor

Gene

PEX7

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

Functioni

Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import.

GO - Molecular functioni

  1. enzyme binding Source: UniProtKB
  2. peroxisome matrix targeting signal-2 binding Source: UniProtKB
  3. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. endochondral ossification Source: Ensembl
  2. ether lipid biosynthetic process Source: UniProtKB
  3. fatty acid beta-oxidation Source: Ensembl
  4. neuron migration Source: Ensembl
  5. peroxisome organization Source: UniProtKB
  6. protein import into peroxisome matrix Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

SignaLinkiO00628.

Protein family/group databases

TCDBi3.A.20.1.1. the peroxisomal protein importer (ppi) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal targeting signal 2 receptor
Short name:
PTS2 receptor
Alternative name(s):
Peroxin-7
Gene namesi
Name:PEX7
Synonyms:PTS2R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:8860. PEX7.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. peroxisomal matrix Source: UniProtKB
  3. peroxisome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 11 (PBD-CG11) [MIM:614879]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Note: The disease is caused by mutations affecting the gene represented in this entry.
Rhizomelic chondrodysplasia punctata 1 (RCDP1) [MIM:215100]: A peroxisome biogenesis disorder. It is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti217 – 2171G → R in RCDP1; unknown pathological significance. 1 Publication
VAR_007725
Natural varianti218 – 2181A → V in RCDP1. 1 Publication
VAR_007726
Peroxisome biogenesis disorder 9B (PBD9B) [MIM:614879]: A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141T → P in PBD9B. 1 Publication
VAR_016810

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Ichthyosis, Peroxisome biogenesis disorder, Retinitis pigmentosa, Rhizomelic chondrodysplasia punctata

Organism-specific databases

MIMi215100. phenotype.
614879. phenotype.
Orphaneti773. Refsum disease.
309789. Rhizomelic chondrodysplasia punctata type 1.
PharmGKBiPA33202.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 323323Peroxisomal targeting signal 2 receptorPRO_0000051116Add
BLAST

Proteomic databases

MaxQBiO00628.
PRIDEiO00628.

PTM databases

PhosphoSiteiO00628.

Expressioni

Tissue specificityi

Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.

Gene expression databases

BgeeiO00628.
CleanExiHS_PEX7.
ExpressionAtlasiO00628. baseline and differential.
GenevestigatoriO00628.

Organism-specific databases

HPAiHPA049202.

Interactioni

Subunit structurei

Interacts with PEX5.

Protein-protein interaction databases

BioGridi111214. 25 interactions.
IntActiO00628. 4 interactions.
MINTiMINT-2997901.
STRINGi9606.ENSP00000315680.

Structurei

3D structure databases

ProteinModelPortaliO00628.
SMRiO00628. Positions 11-315.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati65 – 9632WD 1Add
BLAST
Repeati109 – 14133WD 2Add
BLAST
Repeati153 – 18432WD 3Add
BLAST
Repeati196 – 22732WD 4Add
BLAST
Repeati240 – 27132WD 5Add
BLAST
Repeati284 – 31532WD 6Add
BLAST

Sequence similaritiesi

Belongs to the WD repeat peroxin-7 family.Curated
Contains 6 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00750000117690.
HOGENOMiHOG000204332.
HOVERGENiHBG003354.
InParanoidiO00628.
KOiK13341.
OMAiCVYQALF.
PhylomeDBiO00628.
TreeFamiTF323220.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 6 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O00628-1) [UniParc]FASTAAdd to Basket

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
MSAVCGGAAR MLRTPGRHGY AAEFSPYLPG RLACATAQHY GIAGCGTLLI
60 70 80 90 100
LDPDEAGLRL FRSFDWNDGL FDVTWSENNE HVLITCSGDG SLQLWDTAKA
110 120 130 140 150
AGPLQVYKEH AQEVYSVDWS QTRGEQLVVS GSWDQTVKLW DPTVGKSLCT
160 170 180 190 200
FRGHESIIYS TIWSPHIPGC FASASGDQTL RIWDVKAAGV RIVIPAHQAE
210 220 230 240 250
ILSCDWCKYN ENLLVTGAVD CSLRGWDLRN VRQPVFELLG HTYAIRRVKF
260 270 280 290 300
SPFHASVLAS CSYDFTVRFW NFSKPDSLLE TVEHHTEFTC GLDFSLQSPT
310 320
QVADCSWDET IKIYDPACLT IPA
Length:323
Mass (Da):35,892
Last modified:July 1, 1997 - v1
Checksum:iD405387F7F14B432
GO
Isoform 2 (identifier: O00628-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     250-323: FSPFHASVLA...YDPACLTIPA → MESCPVTQTRSQLTATSAFWVQAVLLPQPTE

Note: No experimental confirmation available.

Show »
Length:280
Mass (Da):30,947
Checksum:iCCE69B17EE2571BA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141T → P in PBD9B. 1 Publication
VAR_016810
Natural varianti217 – 2171G → R in RCDP1; unknown pathological significance. 1 Publication
VAR_007725
Natural varianti218 – 2181A → V in RCDP1. 1 Publication
VAR_007726

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei250 – 32374FSPFH…LTIPA → MESCPVTQTRSQLTATSAFW VQAVLLPQPTE in isoform 2. 1 PublicationVSP_056393Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U88871 mRNA. Translation: AAC51238.1.
U76560 mRNA. Translation: AAB50556.1.
AF180814
, AF180806, AF180807, AF180808, AF180809, AF180810, AF180811, AF180812, AF180813 Genomic DNA. Translation: AAF37350.1.
AL121933 Genomic DNA. No translation available.
AL357082 Genomic DNA. No translation available.
AL365223 Genomic DNA. No translation available.
CH471051 Genomic DNA. Translation: EAW47941.1.
BC006268 mRNA. Translation: AAH06268.1.
BC031606 mRNA. Translation: AAH31606.1.
CCDSiCCDS5180.1. [O00628-1]
RefSeqiNP_000279.1. NM_000288.3.
UniGeneiHs.280932.

Genome annotation databases

EnsembliENST00000318471; ENSP00000315680; ENSG00000112357. [O00628-1]
ENST00000541292; ENSP00000441004; ENSG00000112357. [O00628-2]
GeneIDi5191.
KEGGihsa:5191.
UCSCiuc003qhd.3. human. [O00628-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U88871 mRNA. Translation: AAC51238.1 .
U76560 mRNA. Translation: AAB50556.1 .
AF180814
, AF180806 , AF180807 , AF180808 , AF180809 , AF180810 , AF180811 , AF180812 , AF180813 Genomic DNA. Translation: AAF37350.1 .
AL121933 Genomic DNA. No translation available.
AL357082 Genomic DNA. No translation available.
AL365223 Genomic DNA. No translation available.
CH471051 Genomic DNA. Translation: EAW47941.1 .
BC006268 mRNA. Translation: AAH06268.1 .
BC031606 mRNA. Translation: AAH31606.1 .
CCDSi CCDS5180.1. [O00628-1 ]
RefSeqi NP_000279.1. NM_000288.3.
UniGenei Hs.280932.

3D structure databases

ProteinModelPortali O00628.
SMRi O00628. Positions 11-315.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111214. 25 interactions.
IntActi O00628. 4 interactions.
MINTi MINT-2997901.
STRINGi 9606.ENSP00000315680.

Protein family/group databases

TCDBi 3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

PhosphoSitei O00628.

Proteomic databases

MaxQBi O00628.
PRIDEi O00628.

Protocols and materials databases

DNASUi 5191.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318471 ; ENSP00000315680 ; ENSG00000112357 . [O00628-1 ]
ENST00000541292 ; ENSP00000441004 ; ENSG00000112357 . [O00628-2 ]
GeneIDi 5191.
KEGGi hsa:5191.
UCSCi uc003qhd.3. human. [O00628-1 ]

Organism-specific databases

CTDi 5191.
GeneCardsi GC06P137185.
GeneReviewsi PEX7.
HGNCi HGNC:8860. PEX7.
HPAi HPA049202.
MIMi 215100. phenotype.
601757. gene.
614879. phenotype.
neXtProti NX_O00628.
Orphaneti 773. Refsum disease.
309789. Rhizomelic chondrodysplasia punctata type 1.
PharmGKBi PA33202.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
GeneTreei ENSGT00750000117690.
HOGENOMi HOG000204332.
HOVERGENi HBG003354.
InParanoidi O00628.
KOi K13341.
OMAi CVYQALF.
PhylomeDBi O00628.
TreeFami TF323220.

Enzyme and pathway databases

SignaLinki O00628.

Miscellaneous databases

GenomeRNAii 5191.
NextBioi 20076.
PROi O00628.
SOURCEi Search...

Gene expression databases

Bgeei O00628.
CleanExi HS_PEX7.
ExpressionAtlasi O00628. baseline and differential.
Genevestigatori O00628.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 6 hits.
[Graphical view ]
PRINTSi PR00320. GPROTEINBRPT.
SMARTi SM00320. WD40. 4 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor."
    Purdue P.E., Zhang J.W., Skoneczny M., Lazarow P.B.
    Nat. Genet. 15:381-384(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata."
    Braverman N., Steel G., Obie C., Moser A., Moser H., Gould S.J., Valle D.
    Nat. Genet. 15:369-376(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS RCDP1 ARG-217 AND VAL-218.
    Tissue: Retina.
  3. "PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter."
    Braverman N., Steel G., Lin P., Moser A., Moser H., Valle D.
    Genomics 63:181-192(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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] (ISOFORMS 1 AND 2).
    Tissue: Brain and Ovary.
  7. Cited for: VARIANT PBD9B PRO-14.

Entry informationi

Entry nameiPEX7_HUMAN
AccessioniPrimary (citable) accession number: O00628
Secondary accession number(s): C0H5X6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: October 29, 2014
This is version 131 of the entry and version 1 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 6
    Human chromosome 6: 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

External Data

Dasty 3