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

Summary

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; AllianceGenome:HGNC:25570
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
Summary: Involved in cristae formation. Located in mitochondrial outer membrane and nuclear speck. Part of MIB complex. Colocalizes with MICOS complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 23.0), colon (RPKM 15.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.31

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (6634170..6701816, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (6159834..6227482, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6694230..6761876, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57899 (e-PCR)
- UniSTS:58156

G32516 (e-PCR)
- UniSTS:117101

G62036 (e-PCR)
- UniSTS:139129

SHGC-74158 (e-PCR)
- UniSTS:41598

D1S2731 (e-PCR), detects polymorphism
- UniSTS:11437

RH36717 (e-PCR)
- UniSTS:89263

SHGC-74159 (e-PCR)
- UniSTS:82360

D1S1257 (e-PCR)
- UniSTS:149454

AL033625 (e-PCR)
- UniSTS:93929

A009F43 (e-PCR)
- UniSTS:2029

Homology

Homologs of the DNAJC11 gene: The DNAJC11 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 402 organisms have orthologs with human gene DNAJC11
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cristae formation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in inner mitochondrial membrane organization	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
part_of MIB complex	HDA more info	PubMed
part_of SAM complex	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

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.