Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

PR domain zinc finger protein 12

Gene

PRDM12

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

Functioni

Involved in the positive regulation of histone H3-K9 dimethylation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri243 – 265C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri271 – 293C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri299 – 323C2H2-type 3PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
PR domain zinc finger protein 12 (EC:2.1.1.-)
Alternative name(s):
PR domain-containing protein 12
Gene namesi
Name:PRDM12
Synonyms:PFM9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000130711.3
HGNCiHGNC:13997 PRDM12
MIMi616458 gene
neXtProtiNX_Q9H4Q4

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 8 (HSAN8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production.
See also OMIM:616488
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07461731D → Y in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs879255637EnsemblClinVar.1
Natural variantiVAR_074618102I → N in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs879255636EnsemblClinVar.1
Natural variantiVAR_074619160W → C in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 Publication1
Natural variantiVAR_074620168R → C in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs767397937Ensembl.1
Natural variantiVAR_074621172E → D in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs755205487EnsemblClinVar.1
Natural variantiVAR_074622289H → L in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs879255638EnsemblClinVar.1
Natural variantiVAR_074623352A → AAAAAAAA in HSAN8; reduced protein amount; results in protein aggregation. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi59335
MalaCardsiPRDM12
MIMi616488 phenotype
OpenTargetsiENSG00000130711
PharmGKBiPA33710

Polymorphism and mutation databases

BioMutaiPRDM12
DMDMi25008955

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000477691 – 367PR domain zinc finger protein 12Add BLAST367

Proteomic databases

EPDiQ9H4Q4
PaxDbiQ9H4Q4
PeptideAtlasiQ9H4Q4
PRIDEiQ9H4Q4
ProteomicsDBi80872

PTM databases

iPTMnetiQ9H4Q4
PhosphoSitePlusiQ9H4Q4

Expressioni

Tissue specificityi

Not found in adult tissues except in dorsal root ganglia.1 Publication

Gene expression databases

BgeeiENSG00000130711 Expressed in 97 organ(s), highest expression level in vastus lateralis
CleanExiHS_PRDM12
GenevisibleiQ9H4Q4 HS

Organism-specific databases

HPAiHPA043143

Interactioni

GO - Molecular functioni

Structurei

Secondary structure

1367
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H4Q4
SMRiQ9H4Q4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H4Q4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini86 – 203SETPROSITE-ProRule annotationAdd BLAST118

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi344 – 359Poly-AlaAdd BLAST16

Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri243 – 265C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri271 – 293C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri299 – 323C2H2-type 3PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410KCSB Eukaryota
ENOG410YUJ3 LUCA
GeneTreeiENSGT00830000128284
HOGENOMiHOG000231554
HOVERGENiHBG053666
InParanoidiQ9H4Q4
OMAiDQKKNKH
OrthoDBiEOG091G0A5R
PhylomeDBiQ9H4Q4
TreeFamiTF332260

Family and domain databases

InterProiView protein in InterPro
IPR001214 SET_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
IPR017126 Znf_PRDM12
PIRSFiPIRSF037163 PRDM12, 1 hit
SMARTiView protein in SMART
SM00317 SET, 1 hit
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS50280 SET, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

Sequencei

Sequence statusi: Complete.

Q9H4Q4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMGSVLPAEA LVLKTGLKAP GLALAEVITS DILHSFLYGR WRNVLGEQLF
60 70 80 90 100
EDKSHHASPK TAFTAEVLAQ SFSGEVQKLS SLVLPAEVII AQSSIPGEGL
110 120 130 140 150
GIFSKTWIKA GTEMGPFTGR VIAPEHVDIC KNNNLMWEVF NEDGTVRYFI
160 170 180 190 200
DASQEDHRSW MTYIKCARNE QEQNLEVVQI GTSIFYKAIE MIPPDQELLV
210 220 230 240 250
WYGNSHNTFL GIPGVPGLEE DQKKNKHEDF HPADSAAGPA GRMRCVICHR
260 270 280 290 300
GFNSRSNLRS HMRIHTLDKP FVCRFCNRRF SQSSTLRNHV RLHTGERPYK
310 320 330 340 350
CQVCQSAYSQ LAGLRAHQKS ARHRPPSTAL QAHSPALPAP HAHAPALAAA
360
AAAAAAAAAH HLPAMVL
Length:367
Mass (Da):40,403
Last modified:October 1, 2001 - v2
Checksum:iF2C665E3AE076C76
GO

Polymorphismi

The poly-alanine tract is polymorphic in the general population and contains a maximum of 14 alanines.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07461731D → Y in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs879255637EnsemblClinVar.1
Natural variantiVAR_074618102I → N in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs879255636EnsemblClinVar.1
Natural variantiVAR_074619160W → C in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 Publication1
Natural variantiVAR_074620168R → C in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs767397937Ensembl.1
Natural variantiVAR_074621172E → D in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs755205487EnsemblClinVar.1
Natural variantiVAR_074622289H → L in HSAN8; no effect on nuclear localization; not able to induce histone H3-K9 dimethylation. 1 PublicationCorresponds to variant dbSNP:rs879255638EnsemblClinVar.1
Natural variantiVAR_074623352A → AAAAAAAA in HSAN8; reduced protein amount; results in protein aggregation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY004252 mRNA Translation: AAG13447.2
AL359092 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87940.1
CCDSiCCDS6934.1
RefSeqiNP_067632.2, NM_021619.2
UniGeneiHs.495311

Genome annotation databases

EnsembliENST00000253008; ENSP00000253008; ENSG00000130711
GeneIDi59335
KEGGihsa:59335
UCSCiuc004bzt.2 human

Keywords - Coding sequence diversityi

Triplet repeat expansion

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY004252 mRNA Translation: AAG13447.2
AL359092 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87940.1
CCDSiCCDS6934.1
RefSeqiNP_067632.2, NM_021619.2
UniGeneiHs.495311

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3EP0X-ray2.10A/B60-229[»]
ProteinModelPortaliQ9H4Q4
SMRiQ9H4Q4
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ9H4Q4
PhosphoSitePlusiQ9H4Q4

Polymorphism and mutation databases

BioMutaiPRDM12
DMDMi25008955

Proteomic databases

EPDiQ9H4Q4
PaxDbiQ9H4Q4
PeptideAtlasiQ9H4Q4
PRIDEiQ9H4Q4
ProteomicsDBi80872

Protocols and materials databases

DNASUi59335
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253008; ENSP00000253008; ENSG00000130711
GeneIDi59335
KEGGihsa:59335
UCSCiuc004bzt.2 human

Organism-specific databases

CTDi59335
DisGeNETi59335
EuPathDBiHostDB:ENSG00000130711.3
GeneCardsiPRDM12
HGNCiHGNC:13997 PRDM12
HPAiHPA043143
MalaCardsiPRDM12
MIMi616458 gene
616488 phenotype
neXtProtiNX_Q9H4Q4
OpenTargetsiENSG00000130711
PharmGKBiPA33710
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCSB Eukaryota
ENOG410YUJ3 LUCA
GeneTreeiENSGT00830000128284
HOGENOMiHOG000231554
HOVERGENiHBG053666
InParanoidiQ9H4Q4
OMAiDQKKNKH
OrthoDBiEOG091G0A5R
PhylomeDBiQ9H4Q4
TreeFamiTF332260

Miscellaneous databases

ChiTaRSiPRDM12 human
EvolutionaryTraceiQ9H4Q4
GenomeRNAii59335
PROiPR:Q9H4Q4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130711 Expressed in 97 organ(s), highest expression level in vastus lateralis
CleanExiHS_PRDM12
GenevisibleiQ9H4Q4 HS

Family and domain databases

InterProiView protein in InterPro
IPR001214 SET_dom
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
IPR017126 Znf_PRDM12
PIRSFiPIRSF037163 PRDM12, 1 hit
SMARTiView protein in SMART
SM00317 SET, 1 hit
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS50280 SET, 1 hit
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPRD12_HUMAN
AccessioniPrimary (citable) accession number: Q9H4Q4
Secondary accession number(s): A3KFK9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: October 1, 2001
Last modified: September 12, 2018
This is version 146 of the entry and version 2 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, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again