DNAJC1 (DnaJ heat shock protein family (Hsp40) member C1)

Gene

• Entrez ID: 64215
• Gene name: DnaJ heat shock protein family (Hsp40) member C1
• Gene symbol: DNAJC1
• Synonyms (NCBI Gene): DNAJL1, ERdj1, HTJ1, MTJ1
• Chromosome: 10
• Chromosome location: 10p12.31
• Summary: The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha tryp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002721	hsa-miR-124-3p	Microarray	15685193
MIRT002721	hsa-miR-124-3p	Microarray	15685193
MIRT002721	hsa-miR-124-3p	Microarray	18668037
MIRT031667	hsa-miR-16-5p	Proteomics	18668040
MIRT032341	hsa-let-7b-5p	Proteomics	18668040
MIRT940550	hsa-let-7a	CLIP-seq
MIRT940551	hsa-let-7b	CLIP-seq
MIRT940552	hsa-let-7c	CLIP-seq
MIRT940553	hsa-let-7d	CLIP-seq
MIRT940554	hsa-let-7e	CLIP-seq
MIRT940555	hsa-let-7f	CLIP-seq
MIRT940556	hsa-let-7g	CLIP-seq
MIRT940557	hsa-let-7i	CLIP-seq
MIRT940558	hsa-miR-124	CLIP-seq
MIRT940559	hsa-miR-1277	CLIP-seq
MIRT940560	hsa-miR-202	CLIP-seq
MIRT940561	hsa-miR-3148	CLIP-seq
MIRT940562	hsa-miR-3646	CLIP-seq
MIRT940563	hsa-miR-3662	CLIP-seq
MIRT940564	hsa-miR-3714	CLIP-seq
MIRT940565	hsa-miR-3910	CLIP-seq
MIRT940566	hsa-miR-3978	CLIP-seq
MIRT940567	hsa-miR-4458	CLIP-seq
MIRT940568	hsa-miR-4461	CLIP-seq
MIRT940569	hsa-miR-4500	CLIP-seq
MIRT940570	hsa-miR-4662a-3p	CLIP-seq
MIRT940571	hsa-miR-4698	CLIP-seq
MIRT940572	hsa-miR-4757-3p	CLIP-seq
MIRT940573	hsa-miR-4795-3p	CLIP-seq
MIRT940574	hsa-miR-493	CLIP-seq
MIRT940575	hsa-miR-506	CLIP-seq
MIRT940576	hsa-miR-513a-3p	CLIP-seq
MIRT940577	hsa-miR-544	CLIP-seq
MIRT940578	hsa-miR-579	CLIP-seq
MIRT940579	hsa-miR-664	CLIP-seq
MIRT940580	hsa-miR-98	CLIP-seq
MIRT940550	hsa-let-7a	CLIP-seq
MIRT940551	hsa-let-7b	CLIP-seq
MIRT940552	hsa-let-7c	CLIP-seq
MIRT940553	hsa-let-7d	CLIP-seq
MIRT940554	hsa-let-7e	CLIP-seq
MIRT940555	hsa-let-7f	CLIP-seq
MIRT940556	hsa-let-7g	CLIP-seq
MIRT940557	hsa-let-7i	CLIP-seq
MIRT940560	hsa-miR-202	CLIP-seq
MIRT940567	hsa-miR-4458	CLIP-seq
MIRT940568	hsa-miR-4461	CLIP-seq
MIRT940569	hsa-miR-4500	CLIP-seq
MIRT940571	hsa-miR-4698	CLIP-seq
MIRT940576	hsa-miR-513a-3p	CLIP-seq
MIRT940577	hsa-miR-544	CLIP-seq
MIRT940580	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001671	Function	ATPase activator activity	IEA
GO:0001671	Function	ATPase activator activity	TAS	14668352
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	14668352, 16271702, 28514442, 32296183, 32814053, 33961781, 35156780, 36012204
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006457	Process	Protein folding	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0045861	Process	Negative regulation of proteolysis	TAS	14668352
GO:0050708	Process	Regulation of protein secretion	IDA	14668352
GO:0051087	Function	Protein-folding chaperone binding	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA

Other IDs

• MIM: 611207
• HGNC: 20090
• e!Ensembl: ENSG00000136770

Protein

• UniProt ID: Q96KC8
• Protein name: DnaJ homolog subfamily C member 1 (DnaJ protein homolog MTJ1)
• Protein function: May modulate protein synthesis.
• PDB: 2CQQ, 2CQR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	65 → 126	DnaJ domain	Domain
  PF00249	Myb_DNA-binding	494 → 543	Myb-like DNA-binding domain	Domain

• Sequence:

  MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVE
  EVQLNFYQFLGVQQDASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDE
  RRQRYDDILINGLPDWRQPVFYYRRVRKMSNAELALLLFIILTVGHYAVVWSIYLEKQLD
  ELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPCKLGIWFCLTLKALPH
  LIQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYD
  HGTSIEEIEEQMDDWLENRNRTQKKQAPEWTEEDLSQLTRSMVKFPGGTPGRWEKIAHEL
  GRSVTDVTTKAKQLKDSVTCSPGMVRLSELKSTVQNSRPIKTATTLPDDMITQREDAEGV
  AAEEEQEGDSGEQETGATDARPRRRKPARLLEATAKPEPEEKSRAKRQKDFDIAEQNESS
  DEESLRKERARSAEEPWTQNQQKLLELALQQYPRGSSDRWDKIARCVPSKSKEDCIARYK
  LLVELVQKKKQAKS

• Sequence length: 554

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33735170	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31648321	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19838160	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26480920	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	17052657		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34732256	Associate	★☆☆☆☆ Found in Text Mining only