Format

Send to:

Choose Destination

HDDC3 HD domain containing 3 [ Homo sapiens (human) ]

Gene ID: 374659, updated on 23-Nov-2021

Summary

Official Symbol
HDDC3provided by HGNC
Official Full Name
HD domain containing 3provided by HGNC
Primary source
HGNC:HGNC:30522
See related
Ensembl:ENSG00000184508
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
MESH1; (ppGpp)ase
Expression
Ubiquitous expression in fat (RPKM 9.9), kidney (RPKM 7.9) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See HDDC3 in Genome Data Viewer
Location:
15q26.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (90929968..90932569, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91473198..91475799, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FES proto-oncogene, tyrosine kinase Neighboring gene mannosidase alpha class 2A member 2 Neighboring gene unc-45 myosin chaperone A Neighboring gene RCCD1 and UNC45A antisense RNA 1 Neighboring gene RCC1 domain containing 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1
Names
HD domain-containing protein 3
metazoan SpoT homolog 1
penta-phosphate guanosine-3'-pyrophosphohydrolase
NP_001273380.1
NP_940929.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001286451.2NP_001273380.1  guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 isoform 1

    See identical proteins and their annotated locations for NP_001273380.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC068831
    Consensus CDS
    CCDS66866.1
    UniProtKB/Swiss-Prot
    Q8N4P3
    Related
    ENSP00000377814.4, ENST00000394272.8
    Conserved Domains (2) summary
    COG0317
    Location:4137
    SpoT; (p)ppGpp synthase/hydrolase, HD superfamily [Signal transduction mechanisms, Transcription]
    pfam13328
    Location:11138
    HD_4; HD domain
  2. NM_198527.4NP_940929.1  guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 isoform 2

    See identical proteins and their annotated locations for NP_940929.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AW138983, BC033794, BI833873, BQ187342
    Consensus CDS
    CCDS10366.1
    UniProtKB/Swiss-Prot
    Q8N4P3
    Related
    ENSP00000330721.3, ENST00000330334.7
    Conserved Domains (1) summary
    COG0317
    Location:4138
    SpoT; (p)ppGpp synthase/hydrolase, HD superfamily [Signal transduction mechanisms, Transcription]

RNA

  1. NR_104447.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC068831, AW138983, BQ777217, BU633661, CA450487

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    90929968..90932569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center