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

Gene ID: 55862, updated on 8-May-2016
Official Symbol
ECHDC1provided by HGNC
Official Full Name
ethylmalonyl-CoA decarboxylase 1provided by HGNC
Primary source
HGNC:HGNC:21489
See related
Ensembl:ENSG00000093144 HPRD:13260; MIM:612136; Vega:OTTHUMG00000015523
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
Orthologs
Location:
6q22.33
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (127288712..127344069, 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 LOC105377988 Neighboring gene R-spondin 3 Neighboring gene ring finger protein 146 Neighboring gene uncharacterized LOC105377994 Neighboring gene RNA, 5S ribosomal pseudogene 217 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 4 Neighboring gene ribosomal protein L5 pseudogene 18

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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
 
methylmalonyl-CoA decarboxylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001002030.1NP_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, OTTHUMP00000017170, ENST00000454859, OTTHUMT00000042128
    Conserved Domains (2) 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. ...
    COG1024
    Location:51294
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  2. NM_001105544.1NP_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, OTTHUMP00000017168, ENST00000454591, OTTHUMT00000042125
    Conserved Domains (2) 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. ...
    COG1024
    Location:1219
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  3. NM_001105545.1NP_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, OTTHUMP00000232071, ENST00000528402, OTTHUMT00000388186
    Conserved Domains (2) summary
    COG1024
    Location:146
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
    cl21466
    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_001139510.1NP_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, OTTHUMP00000017171, ENST00000531967, OTTHUMT00000042131
    Conserved Domains (2) 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. ...
    COG1024
    Location:57300
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  5. NM_018479.3NP_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, OTTHUMP00000017169, ENST00000368291, OTTHUMT00000042127
    Conserved Domains (2) 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. ...
    COG1024
    Location:51121
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    127288712..127344069 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535942.1XP_011534244.1  

    See identical proteins and their annotated locations for XP_011534244.1

    Conserved Domains (2) 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. ...
    COG1024
    Location:16182
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  2. XM_005267050.1XP_005267107.1  

    See identical proteins and their annotated locations for XP_005267107.1

    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000357272, OTTHUMP00000017166, ENST00000368289, OTTHUMT00000042122
    Conserved Domains (2) 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. ...
    COG1024
    Location:51121
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  3. XM_005267047.1XP_005267104.1  

    See identical proteins and their annotated locations for XP_005267104.1

    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000402492, OTTHUMP00000017167, ENST00000430841, OTTHUMT00000042124
    Conserved Domains (2) 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. ...
    COG1024
    Location:51294
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  4. XM_005267048.1XP_005267105.1  

    See identical proteins and their annotated locations for XP_005267105.1

    UniProtKB/Swiss-Prot
    Q9NTX5
    Related
    ENSP00000434908, OTTHUMP00000232069, ENST00000474289, OTTHUMT00000042120
    Conserved Domains (2) 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. ...
    COG1024
    Location:51294
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  5. XM_005267049.1XP_005267106.1  

    Conserved Domains (2) 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. ...
    COG1024
    Location:57127
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]
  6. XM_011535943.1XP_011534245.1  

    Related
    ENSP00000436703, OTTHUMP00000017165, ENST00000368292, OTTHUMT00000042121
    Conserved Domains (2) 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. ...
    COG1024
    Location:57137
    CaiD; Enoyl-CoA hydratase/carnithine racemase [Lipid transport and metabolism]

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    127874192..127929073 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)