Aliases for DNAJC11 Gene

Aliases for DNAJC11 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C11 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 11 2 3
  • DnaJ Homolog Subfamily C Member 11 3 4
  • Novel DnaJ Domain-Containing Protein 3
  • DJ126A5.1 3

External Ids for DNAJC11 Gene

Previous GeneCards Identifiers for DNAJC11 Gene

  • GC01M006404
  • GC01M006628
  • GC01M005841
  • GC01M006694

Summaries for DNAJC11 Gene

GeneCards Summary for DNAJC11 Gene

DNAJC11 (DnaJ Heat Shock Protein Family (Hsp40) Member C11) is a Protein Coding gene. Diseases associated with DNAJC11 include 3-Methylglutaconic Aciduria, Type V. An important paralog of this gene is DNAJC16.

UniProtKB/Swiss-Prot Summary for DNAJC11 Gene

  • [Isoform 1]: Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex.

Gene Wiki entry for DNAJC11 Gene

Additional gene information for DNAJC11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC11 Gene

Genomics for DNAJC11 Gene

GeneHancer (GH) Regulatory Elements for DNAJC11 Gene

Promoters and enhancers for DNAJC11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J006700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 689 2.5 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G USF1 SP1 NCOR1 DNAJC11 piR-60246-001 THAP3 PHF13 NOL9 ZBTB48 KLHL21
GH01J006680 Promoter 0.3 EPDnew 500.4 +21.0 20960 0.1 DNAJC11 KLHL21 PHF13 lnc-KLHL21-1 piR-60246-001
GH01J006723 Enhancer 0.9 Ensembl ENCODE 11.1 -22.6 -22556 1.9 FOXK2 JUND FOS REST RFX1 TEAD1 RBM25 RAD51 FOXA2 CREB3L1 LINC01672 RF00017-023 THAP3 DNAJC11 CAMTA1 CAMTA1-DT
GH01J006589 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.2 +111.4 111423 3 POLR2G POLR2A SPI1 ZFHX2 TAF15 ZBTB33 KLF1 AGO2 AGO1 RBM22 piR-35292 piR-55592 THAP3 KLHL21 PHF13 NOL9 TAS1R1 ENSG00000229519 RNU6-731P DNAJC11
GH01J006587 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.2 +113.8 113751 1.6 POLR2G CTCF TAF15 POLR2A AGO2 AGO1 RBM22 HNRNPL RBFOX2 GTF2F1 NOL9 TAS1R1 PHF13 KLHL21 ENSG00000229519 RNU6-731P THAP3 DNAJC11 HSALNG0000533 piR-35292
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC11

Top Transcription factor binding sites by QIAGEN in the DNAJC11 gene promoter:
  • AML1a
  • COUP
  • GATA-2
  • HNF-1
  • HNF-1A
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Pax-5

Genomic Locations for DNAJC11 Gene

Genomic Locations for DNAJC11 Gene
chr1:6,634,168-6,701,924
(GRCh38/hg38)
Size:
67,757 bases
Orientation:
Minus strand
chr1:6,694,228-6,761,984
(GRCh37/hg19)
Size:
67,757 bases
Orientation:
Minus strand

Genomic View for DNAJC11 Gene

Genes around DNAJC11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC11 Gene

Proteins for DNAJC11 Gene

  • Protein details for DNAJC11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVH1-DJC11_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 11
    Protein Accession:
    Q9NVH1
    Secondary Accessions:
    • Q4VWF5
    • Q5VZN0
    • Q6PK20
    • Q6PK70
    • Q8NDM2
    • Q96CL7

    Protein attributes for DNAJC11 Gene

    Size:
    559 amino acids
    Molecular mass:
    63278 Da
    Quaternary structure:
    • Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25997101). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both mitochondrial membranes termed the mitochondrial intermembrane space bridging (MIB) complex.
    SequenceCaution:
    • Sequence=AAH08772.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAJC11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC11 Gene

Post-translational modifications for DNAJC11 Gene

  • Ubiquitination at Lys83, Lys264, and Lys409
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC11 Gene

No data available for DME Specific Peptides for DNAJC11 Gene

Domains & Families for DNAJC11 Gene

Gene Families for DNAJC11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DNAJC11 Gene

Suggested Antigen Peptide Sequences for DNAJC11 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53979, highly similar to DnaJ homolog subfamily C member 11 (B4DGD5_HUMAN)
  • DnaJ homolog subfamily C member 11 (DJC11_HUMAN)
  • DnaJ (Hsp40) homolog, subfamily C, member 11 (Q5TH61_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVH1

UniProtKB/Swiss-Prot:

DJC11_HUMAN :
  • Belongs to the DNAJC11 family.
Family:
  • Belongs to the DNAJC11 family.
genes like me logo Genes that share domains with DNAJC11: view

Function for DNAJC11 Gene

Molecular function for DNAJC11 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex.

Phenotypes From GWAS Catalog for DNAJC11 Gene

Gene Ontology (GO) - Molecular Function for DNAJC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17500595
genes like me logo Genes that share ontologies with DNAJC11: view
genes like me logo Genes that share phenotypes with DNAJC11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC11 Gene

Localization for DNAJC11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC11 Gene

Mitochondrion. Note=Isoforms show differential submitochondrial localization. A 57 kDa form (potentially isoform 3) shows either mitochondrial matrix or innermembrane (IM) localization, possibly anchored to the IM facing the matrix. A 35 kDa form behaved either as an inner membrane space (IMS) or an IM protein exposed to the IMS. {ECO:0000269 PubMed:25111180}.
[Isoform 1]: Mitochondrion outer membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC11 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAJC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001401 colocalizes_with mitochondrial sorting and assembly machinery complex IDA 25997101
GO:0005739 mitochondrion IBA,IDA 25997101
GO:0005741 mitochondrial outer membrane IEA --
GO:0016020 membrane IEA --
GO:0061617 colocalizes_with MICOS complex IBA,IDA 25997101
genes like me logo Genes that share ontologies with DNAJC11: view

Pathways & Interactions for DNAJC11 Gene

PathCards logo

SuperPathways for DNAJC11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042407 cristae formation IBA 21873635
genes like me logo Genes that share ontologies with DNAJC11: view

No data available for Pathways by source and SIGNOR curated interactions for DNAJC11 Gene

Drugs & Compounds for DNAJC11 Gene

No Compound Related Data Available

Transcripts for DNAJC11 Gene

mRNA/cDNA for DNAJC11 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC11

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for DNAJC11 Gene

GeneLoc Exon Structure for
DNAJC11

Expression for DNAJC11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC11 Gene

Protein differential expression in normal tissues from HIPED for DNAJC11 Gene

This gene is overexpressed in Nasal epithelium (28.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC11 Gene



Protein tissue co-expression partners for DNAJC11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC11

SOURCE GeneReport for Unigene cluster for DNAJC11 Gene:

Hs.462640

Evidence on tissue expression from TISSUES for DNAJC11 Gene

  • Nervous system(4.9)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with DNAJC11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC11 Gene

Orthologs for DNAJC11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNAJC11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC11 31 30
  • 98.41 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 96 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DNAJC11 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJC11 31 30
  • 90.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajc11 17 31 30
  • 89.03 (n)
cow
(Bos Taurus)
Mammalia DNAJC11 31 30
  • 88.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnajc11 30
  • 88.13 (n)
chicken
(Gallus gallus)
Aves DNAJC11 31 30
  • 82.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJC11 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc11 30
  • 78.65 (n)
zebrafish
(Danio rerio)
Actinopterygii DNAJC11 (2 of 2) 31
  • 78 (a)
OneToMany
dnajc11 31 30
  • 74.91 (n)
OneToMany
Dr.9382 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2822 30
fruit fly
(Drosophila melanogaster)
Insecta CG8531 31 30
  • 52.29 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010432 30
  • 51.98 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-9 31 30
  • 41.68 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCJ1 31
  • 24 (a)
OneToMany
XDJ1 31
  • 19 (a)
OneToMany
APJ1 31
  • 16 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons OWL1 30
  • 44.77 (n)
rice
(Oryza sativa)
Liliopsida Os10g0507800 30
  • 44.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9399 31
  • 43 (a)
OneToOne
Species where no ortholog for DNAJC11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJC11 Gene

ENSEMBL:
Gene Tree for DNAJC11 (if available)
TreeFam:
Gene Tree for DNAJC11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC11: view image

Paralogs for DNAJC11 Gene

(3) SIMAP similar genes for DNAJC11 Gene using alignment to 6 proteins:

  • DJC11_HUMAN
  • B1AK20_HUMAN
  • B4DGD5_HUMAN
  • F5H1N1_HUMAN
  • Q5TH61_HUMAN
  • Q9UMU8_HUMAN
genes like me logo Genes that share paralogs with DNAJC11: view

Variants for DNAJC11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC11 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
713667 Benign: not provided 6,636,172(-) G/A SYNONYMOUS_VARIANT
774784 Benign: not provided 6,637,225(-) C/T SYNONYMOUS_VARIANT
rs200454 -. - p.Thr290Alap.Thr290Ser
rs56145914 Benign: not specified 6,640,071(-) C/CA INTRON_VARIANT
rs12137794 - p.Val267Met

Additional dbSNP identifiers (rs#s) for DNAJC11 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNAJC11 Gene

Variant ID Type Subtype PubMed ID
esv2237641 CNV deletion 18987734
esv2640779 CNV deletion 19546169
esv3585109 CNV loss 21293372
nsv1004598 CNV gain 25217958
nsv1130944 CNV deletion 24896259
nsv1137722 CNV deletion 24896259
nsv1298 CNV insertion 18451855
nsv437199 CNV loss 16327808
nsv525013 CNV loss 19592680
nsv945756 CNV duplication 23825009

Variation tolerance for DNAJC11 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.21; 80.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC11 Gene

Disorders for DNAJC11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAJC11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type v
  • mgca5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAJC11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNAJC11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAJC11 Gene

Publications for DNAJC11 Gene

  1. Identification and characterization of FLJ10737 and CAMTA1 genes on the commonly deleted region of neuroblastoma at human chromosome 1p36.31-p36.23. (PMID: 12964007) Katoh M … Katoh M (International journal of oncology 2003) 2 3 23 54
  2. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4 54
  3. A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice. (PMID: 25111180) Ioakeimidis F … Douni E (PloS one 2014) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. (PMID: 17222547) Henrich KO … Westermann F (European journal of cancer (Oxford, England : 1990) 2007) 3 23 54

Products for DNAJC11 Gene

Sources for DNAJC11 Gene