DNAJC21 - DnaJ heat shock protein family (Hsp40) member C21 Gene

Also Known as GS3; JJJ1; BMFS3; DNAJA5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 134218

About DNAJC21

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:34,929,559-34,958,964 (from NCBI)

This gene has 15 transcripts (splice variants), 223 orthologues, 20 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.7), placenta (RPKM 6.0) and 25 other tissues.

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]

DNAJC21 Products (3)

mRNA	Protein	Name
NM_001012339.3	NP_001012339.2	dnaJ homolog subfamily C member 21 isoform 2
NM_001348420.2	NP_001335349.1	dnaJ homolog subfamily C member 21 isoform 3
NM_194283.4	NP_919259.3	dnaJ homolog subfamily C member 21 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17500595	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAJC21 Protein Structure

DnaJ

zf-C2H2_jaz

zf-C2H2_2

0
100
200
300
400
500
531 a.a.

Protein Preferred Names	Protein Names
dnaJ homolog subfamily C member 21	DnaJ (Hsp40) homolog, subfamily C, member 21

DNAJC21 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DNAJC21	Q5F1R6	HTT	Homo sapiens	P42858	Y2H	17500595

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bone Marrow Failure Syndrome 3	BMFS3
Inherited Bone Marrow Failure Syndromes	Inherited Bone Marrow Failure Syndrome Bmfs
Pancytopenia
Tongue Disease	Abnormality Of The Tongue Tongue Diseases Tongue Disorders Disorder Of Tongue Glossopathy Unspecified Condition Of The Tongue
Pectus Excavatum	Funnel Chest Congenital Pectus Excavatum
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Severe Congenital Neutropenia 8	Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities Scn8 Sdsl Shwachman-Diamond Syndrome-Like
Severe Congenital Neutropenia 7	Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency Scn7
Hemophagocytic Lymphohistiocytosis, Familial, 3	Familial Hemophagocytic Lymphohistiocytosis 3 FHL3 Hplh3 Hlh3 Lymphohistiocytosis, Hemophagocytic, Familial, Type 3
Spondylometaphyseal Dysplasia, Corner Fracture Type	SMDCF Spondylometaphyseal Dysplasia, Sutcliffe Type Spondylometaphyseal Dysplasia Corner Fracture Type Spondylometaphyseal Dysplasia, 'Corner Fracture' Type Spondylometaphyseal Dysplasia Sutcliffe Type Sutcliffe Type Of Spondylometaphyseal Dysplasia Spondylometaphyseal Dysplasia - Sutcliffe Type Smd, Corner Fractures Type Smd, Sutcliffe Type Sutcliffe Smd Dysplasia, Spondylometaphyseal, Corner Fracture Type
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03882	DNAJC21 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DNAJC21	VGNC	VGNC:102187
Macaca mulatta	DNAJC21	VGNC	VGNC:84293
Rattus norvegicus	DNAJC21	RGD	RGD:621729
Mus musculus	DNAJC21	MGD	MGI:1925371
Others	DNAJC21	NCBI