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Protein

DnaJ homolog subfamily C member 12

Gene

DNAJC12

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

Functioni

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
DnaJ homolog subfamily C member 12
Alternative name(s):
J domain-containing protein 1
Gene namesi
Name:DNAJC12
Synonyms:JDP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000108176.14
HGNCiHGNC:28908 DNAJC12
MIMi606060 gene
neXtProtiNX_Q9UKB3

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability.
See also OMIM:617384
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07879772R → P in HPANBH4; decreased protein levels in patient cells. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi56521
MalaCardsiDNAJC12
MIMi617384 phenotype
OpenTargetsiENSG00000108176
PharmGKBiPA134931354

Polymorphism and mutation databases

BioMutaiDNAJC12
DMDMi28201819

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000710661 – 198DnaJ homolog subfamily C member 12Add BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei160PhosphoserineCombined sources1
Modified residuei166PhosphoserineBy similarity1
Modified residuei182PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UKB3
PaxDbiQ9UKB3
PeptideAtlasiQ9UKB3
PRIDEiQ9UKB3
ProteomicsDBi84763
84764 [Q9UKB3-2]

PTM databases

iPTMnetiQ9UKB3
PhosphoSitePlusiQ9UKB3

Expressioni

Tissue specificityi

Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.

Inductioni

Up-regulated by ER stress.1 Publication

Gene expression databases

BgeeiENSG00000108176
CleanExiHS_DNAJC12
ExpressionAtlasiQ9UKB3 baseline and differential
GenevisibleiQ9UKB3 HS

Organism-specific databases

HPAiHPA036289

Interactioni

Subunit structurei

Interacts with HSPA8.1 Publication

Protein-protein interaction databases

BioGridi121150, 19 interactors
IntActiQ9UKB3, 1 interactor
STRINGi9606.ENSP00000225171

Structurei

Secondary structure

1198
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi15 – 18Combined sources4
Helixi27 – 39Combined sources13
Turni43 – 45Combined sources3
Helixi52 – 67Combined sources16
Helixi69 – 81Combined sources13
Helixi87 – 95Combined sources9

3D structure databases

ProteinModelPortaliQ9UKB3
SMRiQ9UKB3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UKB3

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 79JPROSITE-ProRule annotationAdd BLAST66

Phylogenomic databases

eggNOGiKOG0691 Eukaryota
COG2214 LUCA
GeneTreeiENSGT00550000074688
HOGENOMiHOG000017161
HOVERGENiHBG051379
InParanoidiQ9UKB3
KOiK09532
PhylomeDBiQ9UKB3
TreeFamiTF105171

Family and domain databases

CDDicd06257 DnaJ, 1 hit
Gene3Di1.10.287.110, 1 hit
InterProiView protein in InterPro
IPR001623 DnaJ_domain
IPR036869 J_dom_sf
IPR029827 JDP1-like
PANTHERiPTHR44500 PTHR44500, 1 hit
PfamiView protein in Pfam
PF00226 DnaJ, 1 hit
PRINTSiPR00625 JDOMAIN
SMARTiView protein in SMART
SM00271 DnaJ, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
PROSITEiView protein in PROSITE
PS50076 DNAJ_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform a (identifier: Q9UKB3-1) [UniParc]FASTAAdd to basket
Also known as: JDP1a

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
MDAILNYRSE DTEDYYTLLG CDELSSVEQI LAEFKVRALE CHPDKHPENP
60 70 80 90 100
KAVETFQKLQ KAKEILTNEE SRARYDHWRR SQMSMPFQQW EALNDSVKTS
110 120 130 140 150
MHWVVRGKKD LMLEESDKTH TTKMENEECN EQRERKKEEL ASTAEKTEQK
160 170 180 190
EPKPLEKSVS PQNSDSSGFA DVNGWHLRFR WSKDAPSELL RKFRNYEI
Length:198
Mass (Da):23,415
Last modified:May 1, 2000 - v1
Checksum:i03429472C61413EB
GO
Isoform B (identifier: Q9UKB3-2) [UniParc]FASTAAdd to basket
Also known as: JDP1b

The sequence of this isoform differs from the canonical sequence as follows:
     100-107: SMHWVVRG → VGFSLGAT
     108-198: Missing.

Show »
Length:107
Mass (Da):12,456
Checksum:iEA285E75AE30CE11
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07879772R → P in HPANBH4; decreased protein levels in patient cells. 1 Publication1
Natural variantiVAR_048913124M → I. Corresponds to variant dbSNP:rs35690028Ensembl.1
Natural variantiVAR_048914129C → W. Corresponds to variant dbSNP:rs36099123Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001295100 – 107SMHWVVRG → VGFSLGAT in isoform B. 1 Publication8
Alternative sequenceiVSP_001296108 – 198Missing in isoform B. 1 PublicationAdd BLAST91

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF176012 mRNA Translation: AAD52650.1
AF176013 mRNA Translation: AAD52651.1
AL133551 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54257.1
BC017018 mRNA Translation: AAH17018.1
CCDSiCCDS7271.1 [Q9UKB3-1]
CCDS7272.1 [Q9UKB3-2]
RefSeqiNP_068572.1, NM_021800.2 [Q9UKB3-1]
NP_957714.1, NM_201262.1 [Q9UKB3-2]
UniGeneiHs.260720

Genome annotation databases

EnsembliENST00000225171; ENSP00000225171; ENSG00000108176 [Q9UKB3-1]
ENST00000339758; ENSP00000343575; ENSG00000108176 [Q9UKB3-2]
GeneIDi56521
KEGGihsa:56521
UCSCiuc001jnb.4 human [Q9UKB3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDJC12_HUMAN
AccessioniPrimary (citable) accession number: Q9UKB3
Secondary accession number(s): Q5JVQ1, Q9UKB2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: May 1, 2000
Last modified: June 20, 2018
This is version 135 of the entry and version 1 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

Documents

  1. Human chromosome 10
    Human chromosome 10: 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

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