Echdc1 MGI Mouse Gene Detail - MGI:1277169 - enoyl Coenzyme A hydratase domain containing 1

Symbol

Echdc1
Name

enoyl Coenzyme A hydratase domain containing 1
Synonyms

1700028A24Rik

Feature Type

protein coding gene
IDs

MGI:1277169
NCBI Gene: 52665
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr10:29189162-29223465 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 16.59 cM
Mapping Data

3 experiments

SNPs within 2kb

105 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1277169	protein coding gene	Chr10:29174140-29223465 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017112	protein coding gene	Chr10:27490059-27525113 (+)
A/J	MGP_AJ_G0017089	protein coding gene	Chr10:26653958-26690421 (+)
AKR/J	MGP_AKRJ_G0017049	protein coding gene	Chr10:27086745-27120351 (+)
BALB/cJ	MGP_BALBcJ_G0017052	protein coding gene	Chr10:26771512-26803826 (+)
C3H/HeJ	MGP_C3HHeJ_G0016872	protein coding gene	Chr10:27336771-27375300 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017510	protein coding gene	Chr10:28317843-28358789 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015208	protein coding gene	Chr10:25187155-25220701 (+)
CAST/EiJ	MGP_CASTEiJ_G0016451	protein coding gene	Chr10:27394928-27431430 (+)
CBA/J	MGP_CBAJ_G0016846	protein coding gene	Chr10:29670190-29706054 (+)
DBA/2J	MGP_DBA2J_G0016951	protein coding gene	Chr10:26368673-26412593 (+)
FVB/NJ	MGP_FVBNJ_G0016946	protein coding gene	Chr10:25984486-26017824 (+)
LP/J	MGP_LPJ_G0017028	protein coding gene	Chr10:27458413-27495896 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016976	protein coding gene	Chr10:29785608-29823330 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017546	protein coding gene	Chr10:26985653-27020935 (+)
PWK/PhJ	MGP_PWKPhJ_G0016233	protein coding gene	Chr10:26130079-26165018 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016017	protein coding gene	Chr10:26922751-26959204 (+)
WSB/EiJ	MGP_WSBEiJ_G0016514	protein coding gene	Chr10:27128429-27163938 (+)

Human Ortholog

ECHDC1, ethylmalonyl-CoA decarboxylase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ECHDC1, ethylmalonyl-CoA decarboxylase 1
Synonyms

dJ351K20.2, HEL-S-76, MMCD
Links

HGNC:21489

NCBI Gene ID: 55862

neXtProt AC: NX_Q9NTX5

UniProt: Q9NTX5
Chr Location

6q22.33; chr6:127288712-127343609 (-) GRCh38

MGI Vertebrate Homology

Echdc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ECHDC1
Gene Tree

Echdc1

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

9
Chemically induced (other)

1
Endonuclease-mediated

4
Targeted

4
Genomic Mutations

1 involving Echdc1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Male mice homozygous for a knock-out allele show increased plasma levels of cholesterol and triglycerides, with a specific increase in LDL-C and triglycerides within the VLDL fractions.

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All GO Annotations

8
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

859
Tissues

105
cDNA Data

19
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase echdc1

ZFIN echdc1

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All Sequences

55
RefSeq

6
UniProt

2
CCDS

CCDS23760.1, CCDS48528.1

Ensembl

ENSMUSG00000019883 (Evidence)
NCBI Gene

52665

			Length	Strain/Species	Flank
genomic	ENSMUSG00000019883	Ensembl Gene Model \| MGI Sequence Detail	34304	C57BL/6J	± kb
transcript	ENSMUST00000020034	Ensembl \| MGI Sequence Detail	3856	Not Applicable
polypeptide	ENSMUSP00000020034	Ensembl \| MGI Sequence Detail	322	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000030695 ethylmalonyl-CoA decarboxylase

(term hierarchy)
EC

4.1.1.94
InterPro Domains

IPR029045 ClpP/crotonase-like domain superfamily

IPR001753 Enoyl-CoA hydratase/isomerase

IPR018376 Enoyl-CoA hydratase/isomerase, conserved site

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All nucleic 21

cDNA 19

Primer pair 2

Microarray probesets 3

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MGI:1914187, MGI:2143563, MGI:2143704

Summaries

All 41

Developmental Gene Expression 4

Gene Ontology 4

Phenotypes 12
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:346664 Votava JA, et al., Mining cholesterol genes from thousands of mouse livers identifies aldolase C as a regulator of cholesterol biosynthesis. J Lipid Res. 2024 Mar;65(3):100525

TSS for Echdc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr92874	Chr10:29189160-29189217 (+)	27 bp
Tssr92875	Chr10:29189223-29189234 (+)	67 bp
Tssr92876	Chr10:29189521-29189590 (+)	394 bp
Tssr92877	Chr10:29189617-29189626 (+)	460 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23