Human Gene DNAJC21 (ENST00000382021.2) from GENCODE V44
  Description: Homo sapiens DnaJ heat shock protein family (Hsp40) member C21 (DNAJC21), transcript variant 1, mRNA. (from RefSeq NM_194283)
RefSeq Summary (NM_194283): This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017].
Gencode Transcript: ENST00000382021.2
Gencode Gene: ENSG00000168724.18
Transcript (Including UTRs)
   Position: hg38 chr5:34,929,593-34,958,964 Size: 29,372 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr5:34,929,820-34,954,714 Size: 24,895 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:34,929,593-34,958,964)mRNA (may differ from genome)Protein (576 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DJC21_HUMAN
DESCRIPTION: RecName: Full=DnaJ homolog subfamily C member 21; AltName: Full=DnaJ homolog subfamily A member 5; AltName: Full=Protein GS3;
FUNCTION: May act as a co-chaperone for HSP70.
INTERACTION: Q99551:MTERF; NbExp=2; IntAct=EBI-2654581, EBI-2690033;
TISSUE SPECIFICITY: Brain, placenta, kidney and pancreas.
SIMILARITY: Contains 2 C2H2-type zinc fingers.
SIMILARITY: Contains 1 J domain.
SEQUENCE CAUTION: Sequence=AAH65745.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI07578.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAC87112.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAJC21
Diseases sorted by gene-association score: bone marrow failure syndrome 3* (1341), inherited bone marrow failure syndromes* (400), shwachman-diamond syndrome* (260)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.72 RPKM in Testis
Total median expression: 274.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.40227-0.522 Picture PostScript Text
3' UTR -1056.104250-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001623 - DnaJ_N
IPR018253 - Heat_shock_DnaJ_CS
IPR003095 - Hsp_DnaJ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd
IPR022755 - Znf_C2H2_jaz
IPR003604 - Znf_U1

Pfam Domains:
PF00226 - DnaJ domain
PF12171 - Zinc-finger double-stranded RNA-binding

ModBase Predicted Comparative 3D Structure on Q5F1R6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0006457 protein folding

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005840 ribosome


-  Descriptions from all associated GenBank mRNAs
  BC065745 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21, mRNA (cDNA clone IMAGE:6498385), partial cds.
AY177688 - Homo sapiens GS3 protein mRNA, complete cds.
AY258422 - Homo sapiens DnaJ domain protein mRNA, complete cds.
JD318715 - Sequence 299739 from Patent EP1572962.
JD516440 - Sequence 497464 from Patent EP1572962.
JD189481 - Sequence 170505 from Patent EP1572962.
JD056228 - Sequence 37252 from Patent EP1572962.
JD056230 - Sequence 37254 from Patent EP1572962.
JD056229 - Sequence 37253 from Patent EP1572962.
BC141523 - Synthetic construct Homo sapiens clone IMAGE:100014581, MGC:175316 DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21) mRNA, encodes complete protein.
AK127749 - Homo sapiens cDNA FLJ45849 fis, clone OCBBF2014745.
BC107577 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21, mRNA (cDNA clone IMAGE:4307151), partial cds.
BC050472 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21, mRNA (cDNA clone IMAGE:6471558), partial cds.
AK054651 - Homo sapiens cDNA FLJ30089 fis, clone BNGH41000013.
AK022694 - Homo sapiens cDNA FLJ12632 fis, clone NT2RM4001842.
BX648765 - Homo sapiens mRNA; cDNA DKFZp686I05130 (from clone DKFZp686I05130).
JD502911 - Sequence 483935 from Patent EP1572962.
JD286367 - Sequence 267391 from Patent EP1572962.
JD111172 - Sequence 92196 from Patent EP1572962.
JD511618 - Sequence 492642 from Patent EP1572962.
JD211796 - Sequence 192820 from Patent EP1572962.
JD138239 - Sequence 119263 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DJC21_HUMAN, DNAJA5, ENST00000382021.1, NM_194283, Q3B7J9, Q5F1R6, Q6P086, Q6ZS43, Q86VC6, uc003jjb.1, uc003jjb.2, uc003jjb.3
UCSC ID: ENST00000382021.2
RefSeq Accession: NM_194283
Protein: Q5F1R6 (aka DJC21_HUMAN)
CCDS: CCDS3907.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAJC21:
sds (Shwachman-Diamond Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.