O60683 (PEX10_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	326 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Peroxisome biogenesis
Cellular component	Membrane Peroxisome
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Peroxisome biogenesis disorder Zellweger syndrome
Domain	Zinc-finger
Ligand	Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein import into peroxisome matrix Inferred from direct assay Ref.1. Source: UniProtKB
Cellular_component	integral to peroxisomal membrane Inferred from direct assay Ref.2. Source: UniProtKB peroxisome Inferred from direct assay PubMed 9922452. Source: MGI
Molecular_function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 326	326	Peroxisome biogenesis factor 10		PRO_0000056376
Regions
	Zinc finger	273 – 311	39	RING-type
Natural variations
	Alternative sequence	200	1	Y → YQALRPDPLRVLMSVAPSAL Q in isoform 2.		VSP_005771
	Natural variant	274	1	T → A. Ref.9 Corresponds to variant rs34154371 [ dbSNP | Ensembl ].		VAR_058388
	Natural variant	290	1	H → Q in PBD6B; neonatal adrenoleukodystrophy. Ref.1		VAR_007805

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: 9CF2CE5E4C797799	FASTA	326	37,069
	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
	Isoform 2 [UniParc]. Checksum: 0C0720D0E9BF11F8	FASTA	346	39,214
	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 QALRPDPLRV LMSVAPSALQ LRVRSLPGED LRARVSYRLL 250 260 270 280 290 300 GVISLLHLVL SMGLQLYGFR QRQRARKEWR LHRGLSHRRA SLEERAVSRN PLCTLCLEER 310 320 330 340 RHPTATPCGH LFCWECITAW CSSKAECPLC REKFPPQKLI YLRHYR

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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.

Web resources

GeneReviews

dbPEX, PEX Gene Database

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.
IPI	IPI00031033. IPI00220987.
RefSeq	NP_002608.1. NM_002617.3. NP_722540.1. NM_153818.1.
UniGene	Hs.732228.
3D structure databases
ProteinModelPortal	O60683.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60683. 7 interactions.
STRING	9606.ENSP00000288774.
Protein family/group databases
TCDB	3.A.20.1.1. peroxisomal protein importer (PPI) family.
PTM databases
PhosphoSite	O60683.
Proteomic databases
PaxDb	O60683.
PRIDE	O60683.
Protocols and materials databases
DNASU	5192.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000288774; ENSP00000288774; ENSG00000157911. ENST00000447513; ENSP00000407922; ENSG00000157911.
GeneID	5192.
KEGG	hsa:5192.
UCSC	uc001ajg.3. human. uc001ajh.3. human.
Organism-specific databases
CTD	5192.
GeneCards	GC01M002368.
HGNC	HGNC:8851. PEX10.
HPA	HPA049755.
MIM	602859. gene. 614870. phenotype. 614871. phenotype.
neXtProt	NX_O60683.
Orphanet	247815. Autosomal recessive ataxia due to PEX10 deficiency. 772. Infantile Refsum disease. 44. Neonatal adrenoleukodystrophy. 912. Zellweger syndrome.
PharmGKB	PA33193.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5574.
HOGENOM	HOG000180194.
HOVERGEN	HBG053568.
InParanoid	O60683.
KO	K13346.
OMA	FRQRQRA.
Gene expression databases
ArrayExpress	O60683.
Bgee	O60683.
CleanEx	HS_PEX10.
Genevestigator	O60683.
GermOnline	ENSG00000157911. Homo sapiens.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR025654. PEX10. IPR006845. Pex_N. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. IPR017907. Znf_RING_CS. [Graphical view]
PANTHER	PTHR23350. PTHR23350. 1 hit.
Pfam	PF04757. Pex2_Pex12. 1 hit. [Graphical view]
SMART	SM00184. RING. 1 hit. [Graphical view]
PROSITE	PS00518. ZF_RING_1. 1 hit. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5192.
NextBio	20080.
SOURCE	Search...

Entry information

Entry name

PEX10_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 116 of the entry and version 1 of the sequence. [Complete history]

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.