Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnajc6provided by MGI
Official Full Name: DnaJ heat shock protein family (Hsp40) member C6provided by MGI
Primary source: MGI:MGI:1919935
See related: Ensembl:ENSMUSG00000028528 AllianceGenome:MGI:1919935
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0473; 2810027M23Rik
Summary: Predicted to enable clathrin heavy chain binding activity and heat shock protein binding activity. Involved in clathrin-dependent endocytosis and synaptic vesicle uncoating. Acts upstream of or within clathrin coat disassembly and regulation of clathrin-dependent endocytosis. Located in postsynaptic density. Is extrinsic component of presynaptic endocytic zone membrane. Is expressed in genital tubercle of male; gut; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Parkinson's disease and Parkinson's disease 19A. Orthologous to human DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in frontal lobe adult (RPKM 27.2), cortex adult (RPKM 25.9) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C6; 4 46.89 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (101353751..101499996)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (101496648..101642799)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gene regulation of RMR-related DNAJC6 on adipogenesis and mitochondria function in 3T3-L1 preadipocytes.
Title: Gene regulation of RMR-related DNAJC6 on adipogenesis and mitochondria function in 3T3-L1 preadipocytes.
RMR-Related DNAJC6 Expression Suppresses Adipogenesis in 3T3-L1 Cells.
Title: RMR-Related DNAJC6 Expression Suppresses Adipogenesis in 3T3-L1 Cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin binding	ISS Inferred from Sequence or Structural Similarity more info
enables clathrin heavy chain binding	ISS Inferred from Sequence or Structural Similarity more info
enables heat shock protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within clathrin coat disassembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within clathrin coat disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in clathrin coat disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in clathrin-dependent endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin-dependent endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in intracellular transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of clathrin coat assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of clathrin coat assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of clathrin-dependent endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle uncoating	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle uncoating	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle uncoating	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in clathrin-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extrinsic component of presynaptic endocytic zone membrane	EXP Inferred from Experiment more info	PubMed
is_active_in extrinsic component of presynaptic endocytic zone membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: auxilin

Names: DnaJ (Hsp40) homolog, subfamily B, member 6; DnaJ (Hsp40) homolog, subfamily C, member 6; dnaJ homolog subfamily C member 6; putative tyrosine-protein phosphatase auxilin

NP_001158055.1

EC 3.1.3.48

NP_001158056.1

EC 3.1.3.48

NP_001158057.1

EC 3.1.3.48

NP_001342108.1

EC 3.1.3.48

NP_001342109.1

EC 3.1.3.48

NP_940804.1

EC 3.1.3.48

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.

mRNA and Protein(s)

NM_001164583.2 → NP_001158055.1 auxilin isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AL845364, BX323551

Consensus CDS

CCDS51238.1

UniProtKB/Swiss-Prot

Q80TZ3

Related

ENSMUSP00000102546.2, ENSMUST00000106933.2

Conserved Domains (2) summary

cd06257
Location:916 → 961

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:281 → 419

PTEN_C2; C2 domain of PTEN tumour-suppressor protein
NM_001164584.2 → NP_001158056.1 auxilin isoform b

See identical proteins and their annotated locations for NP_001158056.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1, resulting in an isoform (b) with a distinct and shorter N-terminus, compared to isoform a.

Source sequence(s)

AL845364, BX323551

Consensus CDS

CCDS51237.1

UniProtKB/Swiss-Prot

B1B0B9, Q6P2K9, Q80TZ3, Q8C7L9

Related

ENSMUSP00000044251.6, ENSMUST00000038207.12

Conserved Domains (2) summary

cd06257
Location:886 → 931

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:251 → 389

PTEN_C2; C2 domain of PTEN tumour-suppressor protein
NM_001164585.2 → NP_001158057.1 auxilin isoform c

See identical proteins and their annotated locations for NP_001158057.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream translational start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3. 4 and 6 encode the same isoform.

Source sequence(s)

AL845364, BX323551

Consensus CDS

CCDS18395.1

UniProtKB/Swiss-Prot

Q80TZ3

Conserved Domains (3) summary

cd06257
Location:848 → 893

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:213 → 351

PTEN_C2; C2 domain of PTEN tumor-suppressor protein

cl26464
Location:521 → 752

Atrophin-1; Atrophin-1 family
NM_001355179.2 → NP_001342108.1 auxilin isoform d

Status: VALIDATED

Source sequence(s)

AL845364, BX323551

Conserved Domains (3) summary

cd06257
Location:889 → 934

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:254 → 392

PTEN_C2; C2 domain of PTEN tumor-suppressor protein

cl25496
Location:536 → 821

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
NM_001355180.2 → NP_001342109.1 auxilin isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and uses a downstream translational start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3. 4 and 6 encode the same isoform.

Source sequence(s)

AL845364, BX323551

Consensus CDS

CCDS18395.1

Related

ENSMUSP00000102542.4, ENSMUST00000106929.10

Conserved Domains (3) summary

cd06257
Location:848 → 893

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:213 → 351

PTEN_C2; C2 domain of PTEN tumor-suppressor protein

cl26464
Location:521 → 752

Atrophin-1; Atrophin-1 family
NM_198412.3 → NP_940804.1 auxilin isoform c

See identical proteins and their annotated locations for NP_940804.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a segment of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Variants 3, 4 and 6 encode the same isoform.

Source sequence(s)

AL845364, BX323551

Consensus CDS

CCDS18395.1

UniProtKB/Swiss-Prot

Q80TZ3

Related

ENSMUSP00000102543.2, ENSMUST00000106930.8

Conserved Domains (3) summary

cd06257
Location:848 → 893

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:213 → 351

PTEN_C2; C2 domain of PTEN tumor-suppressor protein

cl26464
Location:521 → 752

Atrophin-1; Atrophin-1 family