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DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 [ Homo sapiens (human) ]

Gene ID: 84277, updated on 13-May-2022

Summary

Official Symbol
DNAJC30provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C30provided by HGNC
Primary source
HGNC:HGNC:16410
See related
Ensembl:ENSG00000176410 MIM:618202; AllianceGenome:HGNC:16410
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LHONAR; MC1DN38; WBSCR18
Summary
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. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See DNAJC30 in Genome Data Viewer
Location:
7q11.23
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73680918..73683453, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74881833..74884368, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73095248..73097783, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MLX interacting protein like Neighboring gene Sharpr-MPRA regulatory region 8994 Neighboring gene VPS37D subunit of ESCRT-I Neighboring gene BUD23 rRNA methyltransferase and ribosome maturation factor Neighboring gene uncharacterized LOC105375350 Neighboring gene syntaxin 1A

Genomic regions, transcripts, and products

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12943

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 ATP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of mitochondrial ATP synthesis coupled proton transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
dnaJ homolog subfamily C member 30, mitochondrial
Names
DnaJ (Hsp40) homolog, subfamily C, member 30
Williams Beuren syndrome chromosome region 18
williams-Beuren syndrome chromosomal region 18 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_032317.3NP_115693.2  dnaJ homolog subfamily C member 30, mitochondrial precursor

    See identical proteins and their annotated locations for NP_115693.2

    Status: REVIEWED

    Source sequence(s)
    AC073846
    Consensus CDS
    CCDS5556.1
    UniProtKB/Swiss-Prot
    Q96LL9
    UniProtKB/TrEMBL
    B3KSU4
    Related
    ENSP00000378605.1, ENST00000395176.3
    Conserved Domains (1) summary
    pfam00226
    Location:50111
    DnaJ; DnaJ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    73680918..73683453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    74881833..74884368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)