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ECHDC3 enoyl-CoA hydratase domain containing 3 [ Homo sapiens (human) ]

Gene ID: 79746, updated on 1-Jun-2020

Summary

Official Symbol
ECHDC3provided by HGNC
Official Full Name
enoyl-CoA hydratase domain containing 3provided by HGNC
Primary source
HGNC:HGNC:23489
See related
Ensembl:ENSG00000134463
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
Expression
Broad expression in fat (RPKM 46.4), kidney (RPKM 40.8) and 17 other tissues See more
Orthologs

Genomic context

See ECHDC3 in Genome Data Viewer
Location:
10p14
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (11742382..11764070)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (11784356..11806065)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376413 Neighboring gene uncharacterized LOC105376412 Neighboring gene VISTA enhancer hs1382 Neighboring gene CRISPRi-validated cis-regulatory element chr10.454 Neighboring gene uncharacterized LOC105379850 Neighboring gene uncharacterized LOC105376415

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

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • FLJ20909

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
enoyl-CoA hydratase domain-containing protein 3, mitochondrial
Names
enoyl Coenzyme A hydratase domain containing 3
testis tissue sperm-binding protein Li 76m

NCBI Reference Sequences (RefSeq)

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_024693.5NP_078969.3  enoyl-CoA hydratase domain-containing protein 3, mitochondrial precursor

    Status: VALIDATED

    Source sequence(s)
    AL138898
    Consensus CDS
    CCDS7084.1
    Related
    ENSP00000368517.4, ENST00000379215.9
    Conserved Domains (1) summary
    cl23717
    Location:54301
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    11742382..11764070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519689.1XP_011517991.1  enoyl-CoA hydratase domain-containing protein 3, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl23717
    Location:54234
    crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...
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