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DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 [ Homo sapiens (human) ]

Gene ID: 134218, updated on 27-Nov-2024

Summary

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Official Symbol
DNAJC21provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C21provided by HGNC
Primary source
HGNC:HGNC:27030
See related
Ensembl:ENSG00000168724 MIM:617048; AllianceGenome:HGNC:27030
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GS3; JJJ1; BMFS3; DNAJA5
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 12.7), placenta (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

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See DNAJC21 in Genome Data Viewer
Location:
5p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (34929559..34958964)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (35176588..35205995)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (34929664..34959069)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 23 like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:34915193-34915798 and GRCh37_chr5:34915799-34916404 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:34922818-34924017 Neighboring gene uncharacterized LOC124900961 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:34930148-34930793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15968 Neighboring gene RAD1 checkpoint DNA exonuclease Neighboring gene biogenesis of ribosomes BRX1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:34955801-34955974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22470 Neighboring gene alanine--glyoxylate aminotransferase 2 Neighboring gene NANOG hESC enhancer GRCh37_chr5:35089574-35090075 Neighboring gene prolactin receptor Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:35117544-35118743 Neighboring gene Sharpr-MPRA regulatory region 5567

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Refining the phenotype associated with biallelic DNAJC21 mutations. D'Amours G, et al. Clin Genet, 2018 Aug. PMID 29700810
  2. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. Warren AJ. Adv Biol Regul, 2018 Jan. PMID 28942353, Free PMC Article
  3. Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain. Chen J, et al. Int J Mol Med, 2004 May. PMID 15067379
  4. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Dhanraj S, et al. Blood, 2017 Mar 16. PMID 28062395
  5. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. Tummala H, et al. Am J Hum Genet, 2016 Jul 7. PMID 27346687, Free PMC Article

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
    Title: Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
  2. We suggest that DNAJC21-related diseases constitute a distinct Inherited bone marrow failure syndromes (IBMFS) , with features overlapping Shwachman-Diamond syndrome and Dyskeratosis congenita, and additional characteristics that are specific to DNAJC21 mutations
    Title: Refining the phenotype associated with biallelic DNAJC21 mutations.
  3. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
    Title: Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
  4. findings demonstrate that mutations in DNAJC21 cause a cancer-prone bone marrow failure syndrome due to corruption of early nuclear rRNA biogenesis and late cytoplasmic maturation of the 60S subunit
    Title: DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
  5. molecular cloning
    Title: Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bone marrow failure syndrome 3
MedGen: C4310744 OMIM: 617052 GeneReviews: Not available
not available
Shwachman syndrome
MedGen: C0272170 GeneReviews: Shwachman-Diamond Syndrome
not available
Shwachman-Diamond syndrome 1
MedGen: C4692625 OMIM: 260400 GeneReviews: Shwachman-Diamond Syndrome, Pancreatitis Overview
not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-10-14)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2020-10-14)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein folding NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in ribosome NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
dnaJ homolog subfamily C member 21
Names
DnaJ (Hsp40) homolog, subfamily C, member 21
DnaJ homology subfamily A member 5
JJJ1 DnaJ domain protein homolog
dnaJ homolog subfamily A member 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052822.1 RefSeqGene

    Range
    5020..34425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1214

mRNA and Protein(s)

  1. NM_001012339.3 → NP_001012339.2  dnaJ homolog subfamily C member 21 isoform 2

    See identical proteins and their annotated locations for NP_001012339.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (2) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC008795, AC026801, AY258422, BC065745
    Consensus CDS
    CCDS34144.1
    UniProtKB/Swiss-Prot
    Q3B7J9, Q5F1R6, Q6P086, Q6ZS43, Q86VC6
    Related
    ENSP00000497410.1, ENST00000648817.1
    Conserved Domains (4) summary
    sd00020
    Location:316 → 338
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00226
    Location:3 → 66
    DnaJ; DnaJ domain
    pfam12171
    Location:314 → 339
    zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
    pfam13892
    Location:181 → 243
    DBINO; DNA-binding domain

  2. NM_001348420.2 → NP_001335349.1  dnaJ homolog subfamily C member 21 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AC008795, AC026801, AY258422, BC065745, BC107577
    Consensus CDS
    CCDS87294.1
    UniProtKB/Swiss-Prot
    Q5F1R6
    Related
    ENSP00000496545.1, ENST00000642851.1
    Conserved Domains (4) summary
    sd00020
    Location:316 → 338
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam12171
    Location:314 → 339
    zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
    cl26511
    Location:167 → 381
    Neuromodulin_N; Gap junction protein N-terminal region
    cl28246
    Location:2 → 79
    DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

  3. NM_194283.4 → NP_919259.3  dnaJ homolog subfamily C member 21 isoform 1

    See identical proteins and their annotated locations for NP_919259.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC008795, AC026801, AK127749, BC050472, BC065745, BX648765
    Consensus CDS
    CCDS3907.2
    UniProtKB/Swiss-Prot
    Q5F1R6
    Related
    ENSP00000371451.2, ENST00000382021.2
    Conserved Domains (4) summary
    sd00020
    Location:316 → 338
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00226
    Location:3 → 66
    DnaJ; DnaJ domain
    pfam12171
    Location:314 → 339
    zf-C2H2_jaz; Zinc-finger double-stranded RNA-binding
    pfam13892
    Location:181 → 243
    DBINO; DNA-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    34929559..34958964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513965.3 → XP_011512267.2  dnaJ homolog subfamily C member 21 isoform X1

  2. XM_011513966.3 → XP_011512268.2  dnaJ homolog subfamily C member 21 isoform X2

  3. XM_005248250.4 → XP_005248307.2  dnaJ homolog subfamily C member 21 isoform X4

  4. XM_047416719.1 → XP_047272675.1  dnaJ homolog subfamily C member 21 isoform X3

  5. XM_047416720.1 → XP_047272676.1  dnaJ homolog subfamily C member 21 isoform X5

    Related
    ENST00000512136.2

  6. XM_047416722.1 → XP_047272678.1  dnaJ homolog subfamily C member 21 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y4Q0
    Related
    ENSP00000493883.1, ENST00000642285.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    35176588..35205995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351617.1 → XP_054207592.1  dnaJ homolog subfamily C member 21 isoform X1

  2. XM_054351618.1 → XP_054207593.1  dnaJ homolog subfamily C member 21 isoform X2

  3. XM_054351620.1 → XP_054207595.1  dnaJ homolog subfamily C member 21 isoform X4

  4. XM_054351619.1 → XP_054207594.1  dnaJ homolog subfamily C member 21 isoform X3

  5. XM_054351621.1 → XP_054207596.1  dnaJ homolog subfamily C member 21 isoform X5

  6. XM_054351622.1 → XP_054207597.1  dnaJ homolog subfamily C member 21 isoform X6

    UniProtKB/TrEMBL
    A0A2R8Y4Q0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5F1R6.2 GenPept UniProtKB/Swiss-Prot:Q5F1R6

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