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O00623

- PEX12_HUMAN

UniProt

O00623 - PEX12_HUMAN

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Protein

Peroxisome assembly protein 12

Gene
PEX12, PAF3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for protein import into peroxisomes.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri304 – 34340RING-type; degenerateAdd
BLAST

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. protein C-terminus binding Source: UniProtKB
  3. zinc ion binding Source: UniProtKB

GO - Biological processi

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

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 assembly protein 12
Alternative name(s):
Peroxin-12
Peroxisome assembly factor 3
Short name:
PAF-3
Gene namesi
Name:PEX12
Synonyms:PAF3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:8854. PEX12.

Subcellular locationi

Peroxisome membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 158158Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei159 – 17921Helical; Reviewed predictionAdd
BLAST
Topological domaini180 – 23960Peroxisomal matrix Reviewed predictionAdd
BLAST
Transmembranei240 – 26021Helical; Reviewed predictionAdd
BLAST
Topological domaini261 – 35999Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]: 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
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341R → S in PBD-CG3. 1 Publication
Corresponds to variant rs147530802 [ dbSNP | Ensembl ].
VAR_058389
Natural varianti178 – 1781Missing in PBD-CG3. 1 Publication
VAR_058390
Natural varianti349 – 3491Missing in PBD-CG3. 1 Publication
VAR_058391
Peroxisome biogenesis disorder 3A (PBD3A) [MIM:614859]: 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 3B (PBD3B) [MIM:266510]: 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 varianti320 – 3201S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 2 Publications
Corresponds to variant rs28936697 [ dbSNP | Ensembl ].
VAR_031998

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi304 – 3041C → W: Abolishes interaction with PEX19; when associated with Q-307. 1 Publication
Mutagenesisi307 – 3071C → Q: Abolishes interaction with PEX19; when associated with W-304. 1 Publication

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Zellweger syndrome

Organism-specific databases

MIMi266510. phenotype.
614859. phenotype.
Orphaneti772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBiPA33196.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 359359Peroxisome assembly protein 12PRO_0000218610Add
BLAST

Proteomic databases

MaxQBiO00623.
PaxDbiO00623.
PRIDEiO00623.

PTM databases

PhosphoSiteiO00623.

Expressioni

Gene expression databases

ArrayExpressiO00623.
BgeeiO00623.
CleanExiHS_PEX12.
GenevestigatoriO00623.

Interactioni

Subunit structurei

Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PEX19P408552EBI-594836,EBI-594747
PEX5P505424EBI-594836,EBI-597835

Protein-protein interaction databases

BioGridi111216. 4 interactions.
IntActiO00623. 3 interactions.
MINTiMINT-241654.
STRINGi9606.ENSP00000225873.

Structurei

3D structure databases

ProteinModelPortaliO00623.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi280 – 2856Poly-Pro

Sequence similaritiesi

Belongs to the pex2/pex10/pex12 family.

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri304 – 34340RING-type; degenerateAdd
BLAST

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiNOG328872.
HOGENOMiHOG000038427.
HOVERGENiHBG053569.
InParanoidiO00623.
KOiK13345.
OMAiFHYVRSH.
OrthoDBiEOG73NG3W.
PhylomeDBiO00623.
TreeFamiTF314511.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR017375. PEX12.
IPR006845. Pex_N.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERiPTHR12888. PTHR12888. 1 hit.
PfamiPF04757. Pex2_Pex12. 1 hit.
[Graphical view]
PIRSFiPIRSF038074. Peroxisome_assembly_p12. 1 hit.
SMARTiSM00184. RING. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O00623-1 [UniParc]FASTAAdd to Basket

« Hide

MAEHGAHFTA ASVADDQPSI FEVVAQDSLM TAVRPALQHV VKVLAESNPT    50
HYGFLWRWFD EIFTLLDLLL QQHYLSRTSA SFSENFYGLK RIVMGDTHKS 100
QRLASAGLPK QQLWKSIMFL VLLPYLKVKL EKLVSSLREE DEYSIHPPSS 150
RWKRFYRAFL AAYPFVNMAW EGWFLVQQLR YILGKAQHHS PLLRLAGVQL 200
GRLTVQDIQA LEHKPAKASM MQQPARSVSE KINSALKKAV GGVALSLSTG 250
LSVGVFFLQF LDWWYSSENQ ETIKSLTALP TPPPPVHLDY NSDSPLLPKM 300
KTVCPLCRKT RVNDTVLATS GYVFCYRCVF HYVRSHQACP ITGYPTEVQH 350
LIKLYSPEN 359
Length:359
Mass (Da):40,797
Last modified:July 1, 1997 - v1
Checksum:i1AF0BE6416422109
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341R → S in PBD-CG3. 1 Publication
Corresponds to variant rs147530802 [ dbSNP | Ensembl ].
VAR_058389
Natural varianti178 – 1781Missing in PBD-CG3. 1 Publication
VAR_058390
Natural varianti245 – 2451L → I.1 Publication
Corresponds to variant rs12941376 [ dbSNP | Ensembl ].
VAR_050495
Natural varianti320 – 3201S → F in PBD3B; attenuates interaction with PEX10 and decreases peroxisomal protein import. 2 Publications
Corresponds to variant rs28936697 [ dbSNP | Ensembl ].
VAR_031998
Natural varianti349 – 3491Missing in PBD-CG3. 1 Publication
VAR_058391

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U91521 mRNA. Translation: AAC68812.1.
U91522 Genomic DNA. Translation: AAC68813.1.
AB004546 mRNA. Translation: BAA31559.1.
AK312635 mRNA. Translation: BAG35519.1.
CH471147 Genomic DNA. Translation: EAW80143.1.
BC031085 mRNA. Translation: AAH31085.1.
CCDSiCCDS11296.1.
RefSeqiNP_000277.1. NM_000286.2.
UniGeneiHs.591190.

Genome annotation databases

EnsembliENST00000225873; ENSP00000225873; ENSG00000108733.
GeneIDi5193.
KEGGihsa:5193.
UCSCiuc002hjp.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

dbPEX, PEX Gene Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U91521 mRNA. Translation: AAC68812.1 .
U91522 Genomic DNA. Translation: AAC68813.1 .
AB004546 mRNA. Translation: BAA31559.1 .
AK312635 mRNA. Translation: BAG35519.1 .
CH471147 Genomic DNA. Translation: EAW80143.1 .
BC031085 mRNA. Translation: AAH31085.1 .
CCDSi CCDS11296.1.
RefSeqi NP_000277.1. NM_000286.2.
UniGenei Hs.591190.

3D structure databases

ProteinModelPortali O00623.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111216. 4 interactions.
IntActi O00623. 3 interactions.
MINTi MINT-241654.
STRINGi 9606.ENSP00000225873.

Protein family/group databases

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

PTM databases

PhosphoSitei O00623.

Proteomic databases

MaxQBi O00623.
PaxDbi O00623.
PRIDEi O00623.

Protocols and materials databases

DNASUi 5193.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000225873 ; ENSP00000225873 ; ENSG00000108733 .
GeneIDi 5193.
KEGGi hsa:5193.
UCSCi uc002hjp.3. human.

Organism-specific databases

CTDi 5193.
GeneCardsi GC17M033897.
GeneReviewsi PEX12.
HGNCi HGNC:8854. PEX12.
MIMi 266510. phenotype.
601758. gene.
614859. phenotype.
neXtProti NX_O00623.
Orphaneti 772. Infantile Refsum disease.
44. Neonatal adrenoleukodystrophy.
912. Zellweger syndrome.
PharmGKBi PA33196.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG328872.
HOGENOMi HOG000038427.
HOVERGENi HBG053569.
InParanoidi O00623.
KOi K13345.
OMAi FHYVRSH.
OrthoDBi EOG73NG3W.
PhylomeDBi O00623.
TreeFami TF314511.

Miscellaneous databases

GeneWikii PEX12.
GenomeRNAii 5193.
NextBioi 20086.
PROi O00623.
SOURCEi Search...

Gene expression databases

ArrayExpressi O00623.
Bgeei O00623.
CleanExi HS_PEX12.
Genevestigatori O00623.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
InterProi IPR017375. PEX12.
IPR006845. Pex_N.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
PANTHERi PTHR12888. PTHR12888. 1 hit.
Pfami PF04757. Pex2_Pex12. 1 hit.
[Graphical view ]
PIRSFi PIRSF038074. Peroxisome_assembly_p12. 1 hit.
SMARTi SM00184. RING. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders."
    Chang C.-C., Lee W.-H., Moser H., Valle D., Gould S.J.
    Nat. Genet. 15:385-388(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], INVOLVEMENT IN PBD3A.
    Tissue: Fetal brain.
  2. "PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p."
    Okumoto K., Shimozawa N., Kawai A., Tamura S., Tsukamoto T., Osumi T., Moser H., Wanders R.J.A., Suzuki Y., Kondo N., Fujiki Y.
    Mol. Cell. Biol. 18:4324-4336(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT PBD3B PHE-320.
  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].
  4. 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].
    Tissue: Testis.
  6. "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import."
    Chang C.C., Warren D.S., Sacksteder K.A., Gould S.J.
    J. Cell Biol. 147:761-774(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PEX5 AND PEX10.
  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, MUTAGENESIS OF CYS-304 AND CYS-307.
  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: VARIANTS PBD-CG3 SER-34; GLN-178 DEL; PHE-320 AND GLN-349 DEL, VARIANT ILE-245.

Entry informationi

Entry nameiPEX12_HUMAN
AccessioniPrimary (citable) accession number: O00623
Secondary accession number(s): B2R6M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
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 17
    Human chromosome 17: 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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