Dnaj heat shock protein family (hsp40) member c12

DNAJC12
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2CTQ
Identifiers
Aliases	DNAJC12 , JDP1, DnaJ heat shock protein family (Hsp40) member C12, HPANBH4
External IDs	OMIM: 606060 MGI: 1353428 HomoloGene: 8492 GeneCards: DNAJC12
Gene location (Human)
Chr.	Chromosome 10 (human)
End	67,838,188 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	63,246,355 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; cerebellar vermis; ; cerebellar hemisphere; ; pons; ; Region I of hippocampus proper; ; Right adrenal gland; ; Left adrenal gland; ; hypothalamus; ; superior vestibular nucleus; ; kidney tubule;
	Top expressed in
	kidney; ; pineal gland; ; dorsal tegmental nucleus; ; ventral tegmental area; ; islet of Langerhans; ; proximal tubule; ; facial motor nucleus; ; arcuate nucleus; ; retinal pigment epithelium; ; habenula;
	More reference expression data
	n/a
Orthologs
	56521
	30045
	ENSG00000108176
	ENSMUSG00000036764
	Q9UKB3
	Q9R022
	NM_021800 ; NM_201262
	NM_001253685 ; NM_013888
	NP_068572 ; NP_957714
	NP_001240614 ; NP_038916
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 18, 2022

DnaJ heat shock protein family (Hsp40) member C12 is a protein that in humans is encoded by the DNAJC12 gene. ^[5]

Function

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene.

Pathology

Mutations of the gene cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency.

Related Research Articles

Heat shock 70 kDa protein 4 is a protein that in humans is encoded by the HSPA4 gene.

DnaJ homolog subfamily B member 1 is a protein that in humans is encoded by the DNAJB1 gene.

DnaJ homolog subfamily A member 1 is a protein that in humans is encoded by the DNAJA1 gene.

Heat shock 70 kDa protein 14 also known as HSP70-like protein 1 or heat shock protein HSP60 is a protein that in humans is encoded by the HSPA14 gene.

Heat shock protein 75 kDa, mitochondrial is a protein that in humans is encoded by the TRAP1 gene.

DnaJ homolog subfamily C member 7 is a protein that in humans is encoded by the DNAJC7 gene.

Heat shock protein beta-6 (HSPB6) is a protein that in humans is encoded by the HSPB6 gene.

DnaJ homolog subfamily C member 10 is a protein that in humans is encoded by the DNAJC10 gene.

DnaJ homolog subfamily B member 4 is a protein that in humans is encoded by the DNAJB4 gene.

Heat shock 70 kDa protein 4L is a protein that in humans is encoded by the HSPA4L gene.

DnaJ homolog subfamily C member 14 is a protein that in humans is encoded by the DNAJC14 gene.

DnaJ (Hsp40) homolog, subfamily C, member 13, also known as DNAJC13, is a human gene.

DnaJ homolog subfamily C member 28 is a protein that in humans is encoded by the DNAJC28 gene. It's a member of chaperone DnaJ family. The family is also known as Hsp40.

DnaJ homolog subfamily C member 11 is a protein that in humans is encoded by the DNAJC11 gene.

DnaJ homolog subfamily C member 1 is a protein that in humans is encoded by the DNAJC1 gene.

Putative tyrosine-protein phosphatase auxilin is an enzyme that in humans is encoded by the DNAJC6 gene.

Heat shock protein beta-3 (HspB3) also known as heat shock 27kDa protein 3 is a protein that in humans is encoded by the HSPB3 gene.

DnaJ (Hsp40) homolog, subfamily C, member 9 is a protein that in humans is encoded by the DNAJC9 gene.

DnaJ heat shock protein family (Hsp40) member A4 is a protein that in humans is encoded by the DNAJA4 gene.

DnaJ homolog subfamily C member 30 (DNAJC30), also known as Williams Beuren syndrome chromosome region 18 protein (WBSCR18), is a protein that in humans is encoded by the DNAJC30 gene. This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000108176 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036764 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: DnaJ heat shock protein family (Hsp40) member C12" . Retrieved 2016-02-22.

Dnaj heat shock protein family (hsp40) member c12

Contents

Function

Pathology

Related Research Articles

References

Further reading