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ECHDC1 ethylmalonyl-CoA decarboxylase 1 [ Homo sapiens (human) ]

Gene ID: 55862, updated on 4-Oct-2020

Summary

Official Symbol
ECHDC1provided by HGNC
Official Full Name
ethylmalonyl-CoA decarboxylase 1provided by HGNC
Primary source
HGNC:HGNC:21489
See related
Ensembl:ENSG00000093144 MIM:612136
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
MMCD; HEL-S-76; dJ351K20.2
Expression
Ubiquitous expression in fat (RPKM 43.4), kidney (RPKM 24.8) and 25 other tissues See more
Orthologs

Genomic context

See ECHDC1 in Genome Data Viewer
Location:
6q22.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (127288712..127344179, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (127609857..127665214, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377989 Neighboring gene R-spondin 3 Neighboring gene uncharacterized LOC112267972 Neighboring gene ring finger protein 146 Neighboring gene uncharacterized LOC105377994 Neighboring gene RNA, 5S ribosomal pseudogene 217 Neighboring gene uncharacterized LOC107986641 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 4 Neighboring gene ribosomal protein L5 pseudogene 18

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40827, DKFZp762M1110

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carboxy-lyase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
ethylmalonyl-CoA decarboxylase
Names
enoyl CoA hydratase domain containing 1
enoyl Coenzyme A hydratase domain containing 1
enoyl-CoA hydratase domain-containing protein 1
epididymis secretory protein Li 76
methylmalonyl-CoA decarboxylase
NP_001002030.1
NP_001099014.1
NP_001099015.1
NP_001132982.1
NP_060949.2
XP_005267104.1
XP_005267105.1
XP_005267106.1
XP_005267107.1
XP_011534244.1
XP_011534245.1
XP_016866545.1
XP_024302258.1

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_001002030.2NP_001002030.1  ethylmalonyl-CoA decarboxylase isoform 1

    See identical proteins and their annotated locations for NP_001002030.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AL834469, DC297239
    Consensus CDS
    CCDS43504.1
    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000401751.3, ENST00000454859.8
    Conserved Domains (1) summary
    cd06558
    Location:54245
    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. ...
  2. NM_001105544.2NP_001099014.1  ethylmalonyl-CoA decarboxylase isoform 3

    See identical proteins and their annotated locations for NP_001099014.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, which causes a downstream AUG start codon to be used. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL834469, BE896631, DC297239
    Consensus CDS
    CCDS47472.1
    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000404866.2, ENST00000454591.6
    Conserved Domains (1) summary
    cd06558
    Location:1170
    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. ...
  3. NM_001105545.2NP_001099015.1  ethylmalonyl-CoA decarboxylase isoform 4

    See identical proteins and their annotated locations for NP_001099015.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons compared to variant 1, which causes a frameshift and a downstream AUG start codon to be used. The resulting isoform (4) has a distinct C-terminus and is shorter at both the N- and C-termini compared to isoform 1.
    Source sequence(s)
    AL834469, DA846978, DC297239
    Consensus CDS
    CCDS55054.1
    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000436109.1, ENST00000528402.5
    Conserved Domains (1) summary
    cl23717
    Location:149
    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. ...
  4. NM_001139510.2NP_001132982.1  ethylmalonyl-CoA decarboxylase isoform 5

    See identical proteins and their annotated locations for NP_001132982.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' exon, thus differing in its 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (5) is longer at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK025760, AK025796, AL834469, BU684175
    Consensus CDS
    CCDS47471.1
    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000436585.1, ENST00000531967.5
    Conserved Domains (1) summary
    cd06558
    Location:60251
    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. ...
  5. NM_018479.4NP_060949.2  ethylmalonyl-CoA decarboxylase isoform 2

    See identical proteins and their annotated locations for NP_060949.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL834469, BQ224769, DC297239
    Consensus CDS
    CCDS34530.1
    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000357274.2, ENST00000368291.6
    Conserved Domains (1) summary
    cd06558
    Location:54124
    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 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    127288712..127344179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535942.3XP_011534244.1  ethylmalonyl-CoA decarboxylase isoform X3

    See identical proteins and their annotated locations for XP_011534244.1

    Conserved Domains (1) summary
    cd06558
    Location:20133
    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. ...
  2. XM_017011056.2XP_016866545.1  ethylmalonyl-CoA decarboxylase isoform X2

    UniProtKB/Swiss-Prot
    Q9NTX5
    Conserved Domains (1) summary
    cd06558
    Location:1170
    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. ...
  3. XM_005267050.3XP_005267107.1  ethylmalonyl-CoA decarboxylase isoform X5

    See identical proteins and their annotated locations for XP_005267107.1

    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000357272.2, ENST00000368289.6
    Conserved Domains (1) summary
    cd06558
    Location:54124
    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. ...
  4. XM_005267047.3XP_005267104.1  ethylmalonyl-CoA decarboxylase isoform X1

    See identical proteins and their annotated locations for XP_005267104.1

    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000402492.2, ENST00000430841.6
    Conserved Domains (1) summary
    cd06558
    Location:54245
    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. ...
  5. XM_005267048.2XP_005267105.1  ethylmalonyl-CoA decarboxylase isoform X1

    See identical proteins and their annotated locations for XP_005267105.1

    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000434908.1, ENST00000474289.6
    Conserved Domains (1) summary
    cd06558
    Location:54245
    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. ...
  6. XM_024446490.1XP_024302258.1  ethylmalonyl-CoA decarboxylase isoform X5

    Conserved Domains (1) summary
    cd06558
    Location:54124
    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. ...
  7. XM_005267049.2XP_005267106.1  ethylmalonyl-CoA decarboxylase isoform X4

    Conserved Domains (1) summary
    cd06558
    Location:60130
    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. ...
  8. XM_011535943.2XP_011534245.1  ethylmalonyl-CoA decarboxylase isoform X6

    Related
    ENSP00000436703.1, ENST00000368292.10
    Conserved Domains (1) summary
    cd06558
    Location:60145
    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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