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Protein

26S proteasome non-ATPase regulatory subunit 12

Gene

PSMD12

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

Functioni

Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.1 Publication

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1169091. Activation of NF-kappaB in B cells.
R-HSA-1234176. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha.
R-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236978. Cross-presentation of soluble exogenous antigens (endosomes).
R-HSA-174084. Autodegradation of Cdh1 by Cdh1:APC/C.
R-HSA-174113. SCF-beta-TrCP mediated degradation of Emi1.
R-HSA-174154. APC/C:Cdc20 mediated degradation of Securin.
R-HSA-174178. APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1.
R-HSA-174184. Cdc20:Phospho-APC/C mediated degradation of Cyclin A.
R-HSA-180534. Vpu mediated degradation of CD4.
R-HSA-180585. Vif-mediated degradation of APOBEC3G.
R-HSA-187577. SCF(Skp2)-mediated degradation of p27/p21.
R-HSA-195253. Degradation of beta-catenin by the destruction complex.
R-HSA-202424. Downstream TCR signaling.
R-HSA-211733. Regulation of activated PAK-2p34 by proteasome mediated degradation.
R-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2871837. FCERI mediated NF-kB activation.
R-HSA-349425. Autodegradation of the E3 ubiquitin ligase COP1.
R-HSA-350562. Regulation of ornithine decarboxylase (ODC).
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-446652. Interleukin-1 family signaling.
R-HSA-450408. AUF1 (hnRNP D0) binds and destabilizes mRNA.
R-HSA-4608870. Asymmetric localization of PCP proteins.
R-HSA-4641257. Degradation of AXIN.
R-HSA-4641258. Degradation of DVL.
R-HSA-5358346. Hedgehog ligand biogenesis.
R-HSA-5362768. Hh mutants that don't undergo autocatalytic processing are degraded by ERAD.
R-HSA-5607761. Dectin-1 mediated noncanonical NF-kB signaling.
R-HSA-5607764. CLEC7A (Dectin-1) signaling.
R-HSA-5610780. Degradation of GLI1 by the proteasome.
R-HSA-5610783. Degradation of GLI2 by the proteasome.
R-HSA-5610785. GLI3 is processed to GLI3R by the proteasome.
R-HSA-5632684. Hedgehog 'on' state.
R-HSA-5658442. Regulation of RAS by GAPs.
R-HSA-5668541. TNFR2 non-canonical NF-kB pathway.
R-HSA-5676590. NIK-->noncanonical NF-kB signaling.
R-HSA-5678895. Defective CFTR causes cystic fibrosis.
R-HSA-5687128. MAPK6/MAPK4 signaling.
R-HSA-5689603. UCH proteinases.
R-HSA-5689880. Ub-specific processing proteases.
R-HSA-6798695. Neutrophil degranulation.
R-HSA-68827. CDT1 association with the CDC6:ORC:origin complex.
R-HSA-68949. Orc1 removal from chromatin.
R-HSA-69017. CDK-mediated phosphorylation and removal of Cdc6.
R-HSA-69229. Ubiquitin-dependent degradation of Cyclin D1.
R-HSA-69481. G2/M Checkpoints.
R-HSA-69601. Ubiquitin Mediated Degradation of Phosphorylated Cdc25A.
R-HSA-8852276. The role of GTSE1 in G2/M progression after G2 checkpoint.
R-HSA-8854050. FBXL7 down-regulates AURKA during mitotic entry and in early mitosis.
R-HSA-8939236. RUNX1 regulates transcription of genes involved in differentiation of HSCs.
R-HSA-8939902. Regulation of RUNX2 expression and activity.
R-HSA-8941858. Regulation of RUNX3 expression and activity.
R-HSA-8948751. Regulation of PTEN stability and activity.
R-HSA-8951664. Neddylation.
R-HSA-9010553. Regulation of expression of SLITs and ROBOs.
R-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
26S proteasome non-ATPase regulatory subunit 12
Alternative name(s):
26S proteasome regulatory subunit RPN5
26S proteasome regulatory subunit p55
Gene namesi
Name:PSMD12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000197170.9.
HGNCiHGNC:9557. PSMD12.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Proteasome

Pathology & Biotechi

Involvement in diseasei

Stankiewicz-Isidor syndrome (STISS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems.
See also OMIM:617516

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi5718.
MIMi617516. phenotype.
OpenTargetsiENSG00000197170.
PharmGKBiPA33903.

Chemistry databases

ChEMBLiCHEMBL2364701.

Polymorphism and mutation databases

BioMutaiPSMD12.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00001738612 – 45626S proteasome non-ATPase regulatory subunit 12Add BLAST455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Cross-linki92Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki92Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei221N6-acetyllysineCombined sources1
Modified residuei368N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiO00232.
MaxQBiO00232.
PaxDbiO00232.
PeptideAtlasiO00232.
PRIDEiO00232.

PTM databases

iPTMnetiO00232.
PhosphoSitePlusiO00232.
SwissPalmiO00232.

Expressioni

Gene expression databases

BgeeiENSG00000197170.
CleanExiHS_PSMD12.
ExpressionAtlasiO00232. baseline and differential.
GenevisibleiO00232. HS.

Organism-specific databases

HPAiHPA023119.

Interactioni

Subunit structurei

Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD12, a base containing 6 ATPases and few additional components.2 Publications

Protein-protein interaction databases

BioGridi111690. 109 interactors.
CORUMiO00232.
DIPiDIP-27549N.
IntActiO00232. 30 interactors.
MINTiMINT-5003729.
STRINGi9606.ENSP00000348442.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5GJQelectron microscopy4.50P1-456[»]
5GJRelectron microscopy3.503/P1-456[»]
5L4Kelectron microscopy4.50P1-456[»]
5LN3electron microscopy6.80P1-456[»]
5M32electron microscopy3.80k1-456[»]
5T0Celectron microscopy3.80AW/BW1-456[»]
5T0Gelectron microscopy4.40W1-456[»]
5T0Helectron microscopy6.80W1-456[»]
5T0Ielectron microscopy8.00W1-456[»]
5T0Jelectron microscopy8.00W1-456[»]
5VGZelectron microscopy3.70W1-456[»]
5VHFelectron microscopy5.70W1-456[»]
5VHHelectron microscopy6.10W1-456[»]
5VHIelectron microscopy6.80W1-456[»]
5VHSelectron microscopy8.80W1-456[»]
ProteinModelPortaliO00232.
SMRiO00232.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini242 – 420PCIPROSITE-ProRule annotationAdd BLAST179

Sequence similaritiesi

Belongs to the proteasome subunit p55 family.Curated

Phylogenomic databases

eggNOGiKOG1498. Eukaryota.
COG5071. LUCA.
GeneTreeiENSGT00730000111110.
HOGENOMiHOG000194265.
HOVERGENiHBG053739.
InParanoidiO00232.
KOiK03035.
OMAiKQAITKM.
OrthoDBiEOG091G06CB.
PhylomeDBiO00232.
TreeFamiTF105721.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiView protein in InterPro
IPR000717. PCI_dom.
IPR035297. PSMD12.
IPR036388. WH-like_DNA-bd_sf.
IPR036390. WH_DNA-bd_sf.
PANTHERiPTHR10855:SF1. PTHR10855:SF1. 1 hit.
PfamiView protein in Pfam
PF01399. PCI. 1 hit.
SMARTiView protein in SMART
SM00088. PINT. 1 hit.
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiView protein in PROSITE
PS50250. PCI. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00232-1) [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
MADGGSERAD GRIVKMEVDY SATVDQRLPE CAKLAKEGRL QEVIETLLSL
60 70 80 90 100
EKQTRTASDM VSTSRILVAV VKMCYEAKEW DLLNENIMLL SKRRSQLKQA
110 120 130 140 150
VAKMVQQCCT YVEEITDLPI KLRLIDTLRM VTEGKIYVEI ERARLTKTLA
160 170 180 190 200
TIKEQNGDVK EAASILQELQ VETYGSMEKK ERVEFILEQM RLCLAVKDYI
210 220 230 240 250
RTQIISKKIN TKFFQEENTE KLKLKYYNLM IQLDQHEGSY LSICKHYRAI
260 270 280 290 300
YDTPCIQAES EKWQQALKSV VLYVILAPFD NEQSDLVHRI SGDKKLEEIP
310 320 330 340 350
KYKDLLKLFT TMELMRWSTL VEDYGMELRK GSLESPATDV FGSTEEGEKR
360 370 380 390 400
WKDLKNRVVE HNIRIMAKYY TRITMKRMAQ LLDLSVDESE AFLSNLVVNK
410 420 430 440 450
TIFAKVDRLA GIINFQRPKD PNNLLNDWSQ KLNSLMSLVN KTTHLIAKEE

MIHNLQ
Length:456
Mass (Da):52,904
Last modified:January 23, 2007 - v3
Checksum:i97D0BDBDB0C96195
GO
Isoform 2 (identifier: O00232-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-56: Missing.

Note: No experimental confirmation available.
Show »
Length:436
Mass (Da):50,579
Checksum:i01DCBC0BF3EC3718
GO

Sequence cautioni

The sequence AAH65826 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti300P → S in BAD96399 (Ref. 3) Curated1
Sequence conflicti398V → D in BAD96399 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051558358V → A. Corresponds to variant dbSNP:rs2230680Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04271837 – 56Missing in isoform 2. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB003103 mRNA. Translation: BAA19749.1.
AK091198 mRNA. Translation: BAG52303.1.
AK222679 mRNA. Translation: BAD96399.1.
AC110921 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89028.1.
BC019062 mRNA. Translation: AAH19062.1.
BC065826 mRNA. Translation: AAH65826.1. Different initiation.
CCDSiCCDS11669.1. [O00232-1]
CCDS11670.1. [O00232-2]
PIRiPC6501. JC6523.
RefSeqiNP_001303270.1. NM_001316341.1.
NP_002807.1. NM_002816.4. [O00232-1]
NP_777360.1. NM_174871.3. [O00232-2]
UniGeneiHs.4295.
Hs.592689.

Genome annotation databases

EnsembliENST00000356126; ENSP00000348442; ENSG00000197170. [O00232-1]
ENST00000357146; ENSP00000349667; ENSG00000197170. [O00232-2]
GeneIDi5718.
KEGGihsa:5718.
UCSCiuc002jfy.4. human. [O00232-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPSD12_HUMAN
AccessioniPrimary (citable) accession number: O00232
Secondary accession number(s): A6NP15, Q53HA2, Q6P053
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: January 23, 2007
Last modified: November 22, 2017
This is version 163 of the entry and version 3 of the sequence. See 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

3D-structure, Complete proteome, Direct protein sequencing, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families