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DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 [ Homo sapiens (human) ]

Gene ID: 55735, updated on 3-May-2020

Summary

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Official Symbol
DNAJC11provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C11provided by HGNC
Primary source
HGNC:HGNC:25570
See related
Ensembl:ENSG00000007923 MIM:614827
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
dJ126A5.1
Expression
Ubiquitous expression in kidney (RPKM 23.0), colon (RPKM 15.3) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See DNAJC11 in Genome Data Viewer
Location:
1p36.31
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (6634168..6701833, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (6694228..6761966, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984913 Neighboring gene PHD finger protein 13 Neighboring gene THAP domain containing 3 Neighboring gene long intergenic non-protein coding RNA 1672 Neighboring gene CAMTA1 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma. Henrich KO, et al. Eur J Cancer, 2007 Feb. PMID 17222547
  2. Identification and characterization of FLJ10737 and CAMTA1 genes on the commonly deleted region of neuroblastoma at human chromosome 1p36.31-p36.23. Katoh M, et al. Int J Oncol, 2003 Oct. PMID 12964007
  3. A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice. Ioakeimidis F, et al. PLoS One, 2014. PMID 25111180, Free PMC Article
  4. OWL1: an Arabidopsis J-domain protein involved in perception of very low light fluences. Kneissl J, et al. Plant Cell, 2009 Oct. PMID 19808946, Free PMC Article
  5. The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11. Xie J, et al. FEBS Lett, 2007 Jul 24. PMID 17624330

See all (49) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. a link between DNAJC11 and neuromuscular diseases
    Title: A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import; DnaJC11 is a chaperone-like protein that may have a similar role
    Title: The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
  4. no evidence for somatic mutations in CAMTA1 in neuroblastoma
    Title: Allelic variants of CAMTA1 and FLJ10737 within a commonly deleted region at 1p36 in neuroblastoma.
  5. FLJ10737 and CAMTA1 genes on 1p36.31-p36.23 are candidate tumor suppressor genes of neuroblastoma
    Title: Identification and characterization of FLJ10737 and CAMTA1 genes on the commonly deleted region of neuroblastoma at human chromosome 1p36.31-p36.23.
  6. FLJ10737 protein consists of the DnaJ domain, bipartite NLS, FADH domain, and FEMCA domain. Mouse E030019A03, zebrafish MGC55845, Drosophila CG8531 and Arabidopsis At2g35720 were homologs of human FLJ10737.
    Title: Identification and characterization of FLJ10737 and CAMTA1 genes on the commonly deleted region of neuroblastoma at human chromosome 1p36.31-p36.23.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10737

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
cristae formation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
inner mitochondrial membrane organization IC
Inferred by Curator
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with MICOS complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
colocalizes_with MICOS complex IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial sorting and assembly machinery complex HDA PubMed 
colocalizes_with mitochondrial sorting and assembly machinery complex IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dnaJ homolog subfamily C member 11
Names
DnaJ (Hsp40) homolog, subfamily C, member 11
novel DnaJ domain-containing protein

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)

  1. NM_018198.4 → NP_060668.2  dnaJ homolog subfamily C member 11

    See identical proteins and their annotated locations for NP_060668.2

    Status: VALIDATED

    Source sequence(s)
    AF306695, AL031447, AL159177, DB461237
    Consensus CDS
    CCDS87.1
    UniProtKB/Swiss-Prot
    Q9NVH1
    Related
    ENSP00000366800.5, ENST00000377577.10
    Conserved Domains (2) summary
    pfam00226
    Location:14 → 79
    DnaJ; DnaJ domain
    pfam11875
    Location:417 → 549
    DUF3395; Domain of unknown function (DUF3395)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    6634168..6701833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001745.1 → XP_016857234.1  dnaJ homolog subfamily C member 11 isoform X1

    UniProtKB/TrEMBL
    B4DGD5
    Conserved Domains (1) summary
    pfam11875
    Location:327 → 459
    DUF3395; Domain of unknown function (DUF3395)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVH1.2 GenPept UniProtKB/Swiss-Prot:Q9NVH1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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