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O60683

- PEX10_HUMAN

UniProt

O60683 - PEX10_HUMAN

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Protein
Peroxisome biogenesis factor 10
Gene
PEX10, RNF69
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Somewhat implicated in the biogenesis of peroxisomes.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri273 – 31139RING-type
Add
BLAST

GO - Molecular functioni

  1. protein C-terminus binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. zinc ion binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. peroxisome organization Source: UniProtKB
  2. protein import into peroxisome matrix Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Peroxisome biogenesis

Keywords - Ligandi

Metal-binding, Zinc

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisome biogenesis factor 10
Alternative name(s):
Peroxin-10
Peroxisomal biogenesis factor 10
Peroxisome assembly protein 10
RING finger protein 69
Gene namesi
Name:PEX10
Synonyms:RNF69
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:8851. PEX10.

Subcellular locationi

GO - Cellular componenti

  1. integral component of peroxisomal membrane Source: UniProtKB
  2. intracellular Source: GOC
  3. peroxisomal membrane Source: UniProtKB
  4. peroxisome Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
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.1 Publication
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti290 – 2901H → Q in PBD6B; neonatal adrenoleukodystrophy. 1 Publication
VAR_007805

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

MIMi614870. phenotype.
614871. phenotype.
Orphaneti247815. Autosomal recessive ataxia due to PEX10 deficiency.
772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33193.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 326326Peroxisome biogenesis factor 10
PRO_0000056376Add
BLAST

Proteomic databases

MaxQBiO60683.
PaxDbiO60683.
PRIDEiO60683.

PTM databases

PhosphoSiteiO60683.

Expressioni

Gene expression databases

ArrayExpressiO60683.
BgeeiO60683.
CleanExiHS_PEX10.
GenevestigatoriO60683.

Organism-specific databases

HPAiHPA049458.
HPA049755.

Interactioni

Subunit structurei

Interacts with PEX19.2 Publications

Protein-protein interaction databases

BioGridi111215. 15 interactions.
IntActiO60683. 7 interactions.
STRINGi9606.ENSP00000288774.

Structurei

3D structure databases

ProteinModelPortaliO60683.
SMRiO60683. Positions 272-311.

Family & Domainsi

Sequence similaritiesi

Belongs to the pex2/pex10/pex12 family.

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiCOG5574.
HOGENOMiHOG000180194.
HOVERGENiHBG053568.
InParanoidiO60683.
KOiK13346.
OMAiATECGHL.
OrthoDBiEOG7C8GHZ.
PhylomeDBiO60683.
TreeFamiTF326491.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR025654. PEX10.
IPR006845. Pex_N.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PANTHERiPTHR23350. PTHR23350. 1 hit.
PfamiPF04757. Pex2_Pex12. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
[Graphical view]
PROSITEiPS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60683-1) [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

MAPAAASPPE VIRAAQKDEY YRGGLRSAAG GALHSLAGAR KWLEWRKEVE    50
LLSDVAYFGL TTLAGYQTLG EEYVSIIQVD PSRIHVPSSL RRGVLVTLHA 100
VLPYLLDKAL LPLEQELQAD PDSGRPLQGS LGPGGRGCSG ARRWMRHHTA 150
TLTEQQRRAL LRAVFVLRQG LACLQRLHVA WFYIHGVFYH LAKRLTGITY 200
LRVRSLPGED LRARVSYRLL GVISLLHLVL SMGLQLYGFR QRQRARKEWR 250
LHRGLSHRRA SLEERAVSRN PLCTLCLEER RHPTATPCGH LFCWECITAW 300
CSSKAECPLC REKFPPQKLI YLRHYR 326
Length:326
Mass (Da):37,069
Last modified:August 1, 1998 - v1
Checksum:i9CF2CE5E4C797799
GO
Isoform 2 (identifier: O60683-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     200-200: Y → YQALRPDPLRVLMSVAPSALQ

Note: No experimental confirmation available.

Show »
Length:346
Mass (Da):39,214
Checksum:i0C0720D0E9BF11F8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741T → A.1 Publication
Corresponds to variant rs34154371 [ dbSNP | Ensembl ].
VAR_058388
Natural varianti290 – 2901H → Q in PBD6B; neonatal adrenoleukodystrophy. 1 Publication
VAR_007805

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei200 – 2001Y → YQALRPDPLRVLMSVAPSAL Q in isoform 2.
VSP_005771

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS41.1. [O60683-2]
CCDS44045.1. [O60683-1]
RefSeqiNP_002608.1. NM_002617.3. [O60683-1]
NP_722540.1. NM_153818.1. [O60683-2]
UniGeneiHs.732228.

Genome annotation databases

EnsembliENST00000288774; ENSP00000288774; ENSG00000157911. [O60683-2]
ENST00000447513; ENSP00000407922; ENSG00000157911. [O60683-1]
GeneIDi5192.
KEGGihsa:5192.
UCSCiuc001ajg.3. human. [O60683-2]
uc001ajh.3. human. [O60683-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

dbPEX, PEX Gene Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS41.1. [O60683-2 ]
CCDS44045.1. [O60683-1 ]
RefSeqi NP_002608.1. NM_002617.3. [O60683-1 ]
NP_722540.1. NM_153818.1. [O60683-2 ]
UniGenei Hs.732228.

3D structure databases

ProteinModelPortali O60683.
SMRi O60683. Positions 272-311.
ModBasei Search...

Protein-protein interaction databases

BioGridi 111215. 15 interactions.
IntActi O60683. 7 interactions.
STRINGi 9606.ENSP00000288774.

Protein family/group databases

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

PTM databases

PhosphoSitei O60683.

Proteomic databases

MaxQBi O60683.
PaxDbi O60683.
PRIDEi O60683.

Protocols and materials databases

DNASUi 5192.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000288774 ; ENSP00000288774 ; ENSG00000157911 . [O60683-2 ]
ENST00000447513 ; ENSP00000407922 ; ENSG00000157911 . [O60683-1 ]
GeneIDi 5192.
KEGGi hsa:5192.
UCSCi uc001ajg.3. human. [O60683-2 ]
uc001ajh.3. human. [O60683-1 ]

Organism-specific databases

CTDi 5192.
GeneCardsi GC01M002368.
GeneReviewsi PEX10.
HGNCi HGNC:8851. PEX10.
HPAi HPA049458.
HPA049755.
MIMi 602859. gene.
614870. phenotype.
614871. phenotype.
neXtProti NX_O60683.
Orphaneti 247815. Autosomal recessive ataxia due to PEX10 deficiency.
772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBi PA33193.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5574.
HOGENOMi HOG000180194.
HOVERGENi HBG053568.
InParanoidi O60683.
KOi K13346.
OMAi ATECGHL.
OrthoDBi EOG7C8GHZ.
PhylomeDBi O60683.
TreeFami TF326491.

Miscellaneous databases

GeneWikii PEX10.
GenomeRNAii 5192.
NextBioi 20080.
PROi O60683.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60683.
Bgeei O60683.
CleanExi HS_PEX10.
Genevestigatori O60683.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
InterProi IPR025654. PEX10.
IPR006845. Pex_N.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view ]
PANTHERi PTHR23350. PTHR23350. 1 hit.
Pfami PF04757. Pex2_Pex12. 1 hit.
[Graphical view ]
SMARTi SM00184. RING. 1 hit.
[Graphical view ]
PROSITEi PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiPEX10_HUMAN
AccessioniPrimary (citable) accession number: O60683
Secondary accession number(s): B3KWD8, Q5T095, Q9BW90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 1, 1998
Last modified: July 9, 2014
This is version 127 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 1
    Human chromosome 1: 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

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