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O60683 (PEX10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peroxisome biogenesis factor 10
Alternative name(s):
Peroxin-10
Peroxisomal biogenesis factor 10
Peroxisome assembly protein 10
RING finger protein 69
Gene names
Name:PEX10
Synonyms:RNF69
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length326 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Somewhat implicated in the biogenesis of peroxisomes.

Subunit structure

Interacts with PEX19. Ref.7 Ref.8

Subcellular location

Peroxisome membrane; Peripheral membrane protein Potential.

Involvement in disease

Peroxisome biogenesis disorder complementation group 7 (PBD-CG7) [MIM:614870]: 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. Ref.9

Peroxisome biogenesis disorder 6A (PBD6A) [MIM:614870]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2

Peroxisome biogenesis disorder 6B (PBD6B) [MIM:614871]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Belongs to the pex2/pex10/pex12 family.

Contains 1 RING-type zinc finger.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60683-1)

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: O60683-2)

The sequence of this isoform differs from the canonical sequence as follows:
     200-200: Y → YQALRPDPLRVLMSVAPSALQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 326326Peroxisome biogenesis factor 10
PRO_0000056376

Regions

Zinc finger273 – 31139RING-type

Natural variations

Alternative sequence2001Y → YQALRPDPLRVLMSVAPSAL Q in isoform 2.
VSP_005771
Natural variant2741T → A. Ref.9
Corresponds to variant rs34154371 [ dbSNP | Ensembl ].
VAR_058388
Natural variant2901H → Q in PBD6B; neonatal adrenoleukodystrophy. Ref.1
VAR_007805

Sequences

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

Last modified August 1, 1998. Version 1.
Checksum: 9CF2CE5E4C797799

FASTA32637,069
        10         20         30         40         50         60 
MAPAAASPPE VIRAAQKDEY YRGGLRSAAG GALHSLAGAR KWLEWRKEVE LLSDVAYFGL 

        70         80         90        100        110        120 
TTLAGYQTLG EEYVSIIQVD PSRIHVPSSL RRGVLVTLHA VLPYLLDKAL LPLEQELQAD 

       130        140        150        160        170        180 
PDSGRPLQGS LGPGGRGCSG ARRWMRHHTA TLTEQQRRAL LRAVFVLRQG LACLQRLHVA 

       190        200        210        220        230        240 
WFYIHGVFYH LAKRLTGITY LRVRSLPGED LRARVSYRLL GVISLLHLVL SMGLQLYGFR 

       250        260        270        280        290        300 
QRQRARKEWR LHRGLSHRRA SLEERAVSRN PLCTLCLEER RHPTATPCGH LFCWECITAW 

       310        320 
CSSKAECPLC REKFPPQKLI YLRHYR 

« Hide

Isoform 2 [UniParc].

Checksum: 0C0720D0E9BF11F8
Show »

FASTA34639,214

References

« Hide 'large scale' references
[1]"Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders."
Warren D.S., Morrell J.C., Moser H.W., Valle D., Gould S.J.
Am. J. Hum. Genet. 63:347-359(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PBD6B GLN-290.
[2]"Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B."
Okumoto K., Itoh R., Shimozawa N., Suzuki Y., Tamura S., Kondo N., Fujiki Y.
Hum. Mol. Genet. 7:1399-1405(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN PBD6A.
[3]"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] (ISOFORM 1).
Tissue: Caudate nucleus.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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].
[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 Lung.
[7]"PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis."
Sacksteder K.A., Jones J.M., South S.T., Li X., Liu Y., Gould S.J.
J. Cell Biol. 148:931-944(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PEX19.
[8]"Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences."
Fransen M., Wylin T., Brees C., Mannaerts G.P., Van Veldhoven P.P.
Mol. Cell. Biol. 21:4413-4424(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PEX19.
[9]"Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders."
Yik W.Y., Steinberg S.J., Moser A.B., Moser H.W., Hacia J.G.
Hum. Mutat. 30:E467-E480(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ALA-274, INVOLVEMENT IN PBD-CG7.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF060502 mRNA. Translation: AAC18133.1.
AB013818 mRNA. Translation: BAA87895.1.
AK124816 mRNA. Translation: BAG54100.1.
AL513477 Genomic DNA. Translation: CAI22603.1.
CH471183 Genomic DNA. Translation: EAW56105.1.
BC000543 mRNA. Translation: AAH00543.1.
BC018198 mRNA. Translation: AAH18198.1.
RefSeqNP_002608.1. NM_002617.3.
NP_722540.1. NM_153818.1.
UniGeneHs.732228.

3D structure databases

ProteinModelPortalO60683.
SMRO60683. Positions 272-311.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111215. 15 interactions.
IntActO60683. 7 interactions.
STRING9606.ENSP00000288774.

Protein family/group databases

TCDB3.A.20.1.1. the peroxisomal protein importer (ppi) family.

PTM databases

PhosphoSiteO60683.

Proteomic databases

PaxDbO60683.
PRIDEO60683.

Protocols and materials databases

DNASU5192.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000288774; ENSP00000288774; ENSG00000157911. [O60683-2]
ENST00000447513; ENSP00000407922; ENSG00000157911. [O60683-1]
GeneID5192.
KEGGhsa:5192.
UCSCuc001ajg.3. human. [O60683-2]
uc001ajh.3. human. [O60683-1]

Organism-specific databases

CTD5192.
GeneCardsGC01M002368.
HGNCHGNC:8851. PEX10.
HPAHPA049458.
HPA049755.
MIM602859. gene.
614870. phenotype.
614871. phenotype.
neXtProtNX_O60683.
Orphanet247815. Autosomal recessive ataxia due to PEX10 deficiency.
772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBPA33193.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5574.
HOGENOMHOG000180194.
HOVERGENHBG053568.
InParanoidO60683.
KOK13346.
OMACIVGWGR.
OrthoDBEOG7C8GHZ.
PhylomeDBO60683.
TreeFamTF326491.

Gene expression databases

ArrayExpressO60683.
BgeeO60683.
CleanExHS_PEX10.
GenevestigatorO60683.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR025654. PEX10.
IPR006845. Pex_N.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PANTHERPTHR23350. PTHR23350. 1 hit.
PfamPF04757. Pex2_Pex12. 1 hit.
[Graphical view]
SMARTSM00184. RING. 1 hit.
[Graphical view]
PROSITEPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPEX10.
GenomeRNAi5192.
NextBio20080.
PROO60683.
SOURCESearch...

Entry information

Entry namePEX10_HUMAN
AccessionPrimary (citable) accession number: O60683
Secondary accession number(s): B3KWD8, Q5T095, Q9BW90
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 1, 1998
Last modified: April 16, 2014
This is version 124 of the entry and version 1 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 1

Human chromosome 1: entries, gene names and cross-references to MIM