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Protein

DnaJ homolog subfamily C member 21

Gene

DNAJC21

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

Functioni

May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri314 – 338C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri482 – 506C2H2-type 2PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • zinc ion binding Source: InterPro

GO - Biological processi

  • protein folding Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
DnaJ homolog subfamily C member 21
Alternative name(s):
DnaJ homolog subfamily A member 5
Protein GS3
Gene namesi
Name:DNAJC21
Synonyms:DNAJA5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:27030. DNAJC21.

Subcellular locationi

GO - Cellular componenti

  • nucleolus Source: UniProtKB-SubCell
  • ribosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Bone marrow failure syndrome 3 (BMFS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra hematopoietic features. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive.
See also OMIM:617052
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07680232P → A in BMFS3; loss of HSPA8-binding; no effect on PA2G4-, nor on ZNF622-binding. 1 Publication1

Organism-specific databases

DisGeNETi134218.
MIMi617052. phenotype.
OpenTargetsiENSG00000168724.
PharmGKBiPA162383874.

Polymorphism and mutation databases

BioMutaiDNAJC21.
DMDMi296434479.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002814751 – 531DnaJ homolog subfamily C member 21Add BLAST531

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei283PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Modified residuei370PhosphoserineCombined sources1
Modified residuei511PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5F1R6.
MaxQBiQ5F1R6.
PeptideAtlasiQ5F1R6.
PRIDEiQ5F1R6.

PTM databases

iPTMnetiQ5F1R6.
PhosphoSitePlusiQ5F1R6.

Expressioni

Tissue specificityi

Expressed in brain, placenta, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000168724.
CleanExiHS_DNAJC21.
GenevisibleiQ5F1R6. HS.

Organism-specific databases

HPAiHPA040789.
HPA049208.

Interactioni

Subunit structurei

Interacts with HSPA8, PA2G4 and ZNF622.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
HTTP428586EBI-2654581,EBI-466029
MTERF1Q995512EBI-2654581,EBI-2690033

Protein-protein interaction databases

BioGridi126389. 12 interactors.
IntActiQ5F1R6. 8 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ5F1R6.
SMRiQ5F1R6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini3 – 69JPROSITE-ProRule annotationAdd BLAST67

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi225 – 375Glu-richAdd BLAST151
Compositional biasi384 – 392Poly-Lys9

Sequence similaritiesi

Contains 2 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 J domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri314 – 338C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri482 – 506C2H2-type 2PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

GeneTreeiENSGT00510000047097.
HOGENOMiHOG000193307.
HOVERGENiHBG081458.
InParanoidiQ5F1R6.
KOiK09506.
OMAiQNYDDNF.
OrthoDBiEOG091G0AV2.
PhylomeDBiQ5F1R6.
TreeFamiTF314518.

Family and domain databases

CDDicd06257. DnaJ. 1 hit.
Gene3Di1.10.287.110. 1 hit.
InterProiIPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR022755. Znf_C2H2_jaz.
IPR003604. Znf_U1.
[Graphical view]
PfamiPF00226. DnaJ. 1 hit.
PF12171. zf-C2H2_jaz. 1 hit.
[Graphical view]
PRINTSiPR00625. JDOMAIN.
SMARTiSM00271. DnaJ. 1 hit.
SM00355. ZnF_C2H2. 2 hits.
SM00451. ZnF_U1. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiPS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 2 hits.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5F1R6-1) [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
MKCHYEALGV RRDASEEELK KAYRKLALKW HPDKNLDNAA EAAEQFKLIQ
60 70 80 90 100
AAYDVLSDPQ ERAWYDNHRE ALLKGGFDGE YQDDSLDLLR YFTVTCYSGY
110 120 130 140 150
GDDEKGFYTV YRNVFEMIAK EELESVLEEE VDDFPTFGDS QSDYDTVVHP
160 170 180 190 200
FYAYWQSFCT QKNFAWKEEY DTRQASNRWE KRAMEKENKK IRDKARKEKN
210 220 230 240 250
ELVRQLVAFI RKRDKRVQAH RKLVEEQNAE KARKAEEMRR QQKLKQAKLV
260 270 280 290 300
EQYREQSWMT MANLEKELQE MEARYEKEFG DGSDENEMEE HELKDEEDGK
310 320 330 340 350
DSDEAEDAEL YDDLYCPACD KSFKTEKAMK NHEKSKKHRE MVALLKQQLE
360 370 380 390 400
EEEENFSRPQ IDENPLDDNS EEEMEDAPKQ KLSKKQKKKK QKPAQNYDDN
410 420 430 440 450
FNVNGPGEGV KVDPEDTNLN QDSAKELEDS PQENVSVTEI IKPCDDPKSE
460 470 480 490 500
AKSVPKPKGK KTKDMKKPVR VPAEPQTMSV LISCTTCHSE FPSRNKLFDH
510 520 530
LKATGHARAP SSSSLNSATS SQSKKEKRKN R
Length:531
Mass (Da):62,028
Last modified:May 18, 2010 - v2
Checksum:iD1D3ED9AD6505613
GO
Isoform 2 (identifier: Q5F1R6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     395-395: Q → QDVPGKDSYLPAAHFQMAWGKKCVLGERRDGESEHKCAKMLLENRQ

Note: No experimental confirmation available.
Show »
Length:576
Mass (Da):67,141
Checksum:iAA936DB87C834334
GO
Isoform 3 (identifier: Q5F1R6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     381-381: K → KVKYLTFRFIFALR

Note: No experimental confirmation available.
Show »
Length:544
Mass (Da):63,684
Checksum:i59B109CAB7597022
GO

Sequence cautioni

The sequence AAH65745 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI07578 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAC87112 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti509A → V in AAP81807 (PubMed:15067379).Curated1
Sequence conflicti509A → V in AAO46910 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07680232P → A in BMFS3; loss of HSPA8-binding; no effect on PA2G4-, nor on ZNF622-binding. 1 Publication1
Natural variantiVAR_036163214D → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_061145433E → K.Corresponds to variant rs34908091dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024004381K → KVKYLTFRFIFALR in isoform 3. 1 Publication1
Alternative sequenceiVSP_024005395Q → QDVPGKDSYLPAAHFQMAWG KKCVLGERRDGESEHKCAKM LLENRQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY258422 mRNA. Translation: AAP81807.1.
AY177688 mRNA. Translation: AAO46910.1.
BC050472 mRNA. Translation: AAH50472.1.
BC065745 mRNA. Translation: AAH65745.1. Sequence problems.
BC107577 mRNA. Translation: AAI07578.1. Sequence problems.
AK127749 mRNA. Translation: BAC87112.1. Different initiation.
CCDSiCCDS34144.1. [Q5F1R6-1]
CCDS3907.2. [Q5F1R6-2]
RefSeqiNP_001012339.2. NM_001012339.2. [Q5F1R6-1]
NP_919259.3. NM_194283.3. [Q5F1R6-2]
UniGeneiHs.131887.

Genome annotation databases

EnsembliENST00000342382; ENSP00000343728; ENSG00000168724. [Q5F1R6-1]
ENST00000382021; ENSP00000371451; ENSG00000168724. [Q5F1R6-2]
GeneIDi134218.
KEGGihsa:134218.
UCSCiuc003jjb.3. human. [Q5F1R6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY258422 mRNA. Translation: AAP81807.1.
AY177688 mRNA. Translation: AAO46910.1.
BC050472 mRNA. Translation: AAH50472.1.
BC065745 mRNA. Translation: AAH65745.1. Sequence problems.
BC107577 mRNA. Translation: AAI07578.1. Sequence problems.
AK127749 mRNA. Translation: BAC87112.1. Different initiation.
CCDSiCCDS34144.1. [Q5F1R6-1]
CCDS3907.2. [Q5F1R6-2]
RefSeqiNP_001012339.2. NM_001012339.2. [Q5F1R6-1]
NP_919259.3. NM_194283.3. [Q5F1R6-2]
UniGeneiHs.131887.

3D structure databases

ProteinModelPortaliQ5F1R6.
SMRiQ5F1R6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126389. 12 interactors.
IntActiQ5F1R6. 8 interactors.

PTM databases

iPTMnetiQ5F1R6.
PhosphoSitePlusiQ5F1R6.

Polymorphism and mutation databases

BioMutaiDNAJC21.
DMDMi296434479.

Proteomic databases

EPDiQ5F1R6.
MaxQBiQ5F1R6.
PeptideAtlasiQ5F1R6.
PRIDEiQ5F1R6.

Protocols and materials databases

DNASUi134218.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342382; ENSP00000343728; ENSG00000168724. [Q5F1R6-1]
ENST00000382021; ENSP00000371451; ENSG00000168724. [Q5F1R6-2]
GeneIDi134218.
KEGGihsa:134218.
UCSCiuc003jjb.3. human. [Q5F1R6-1]

Organism-specific databases

CTDi134218.
DisGeNETi134218.
GeneCardsiDNAJC21.
H-InvDBHIX0004801.
HGNCiHGNC:27030. DNAJC21.
HPAiHPA040789.
HPA049208.
MIMi617048. gene.
617052. phenotype.
neXtProtiNX_Q5F1R6.
OpenTargetsiENSG00000168724.
PharmGKBiPA162383874.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00510000047097.
HOGENOMiHOG000193307.
HOVERGENiHBG081458.
InParanoidiQ5F1R6.
KOiK09506.
OMAiQNYDDNF.
OrthoDBiEOG091G0AV2.
PhylomeDBiQ5F1R6.
TreeFamiTF314518.

Miscellaneous databases

ChiTaRSiDNAJC21. human.
GenomeRNAii134218.
PROiQ5F1R6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168724.
CleanExiHS_DNAJC21.
GenevisibleiQ5F1R6. HS.

Family and domain databases

CDDicd06257. DnaJ. 1 hit.
Gene3Di1.10.287.110. 1 hit.
InterProiIPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR022755. Znf_C2H2_jaz.
IPR003604. Znf_U1.
[Graphical view]
PfamiPF00226. DnaJ. 1 hit.
PF12171. zf-C2H2_jaz. 1 hit.
[Graphical view]
PRINTSiPR00625. JDOMAIN.
SMARTiSM00271. DnaJ. 1 hit.
SM00355. ZnF_C2H2. 2 hits.
SM00451. ZnF_U1. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiPS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 2 hits.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDJC21_HUMAN
AccessioniPrimary (citable) accession number: Q5F1R6
Secondary accession number(s): Q3B7J9
, Q6P086, Q6ZS43, Q86VC6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 111 of the entry and version 2 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 5
    Human chromosome 5: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.