Mccc1 MGI Mouse Gene Detail - MGI:1919289 - methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

Symbol

Mccc1
Name

methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Synonyms

1810045E08Rik, 2310058B18Rik, MCCA, MCCalpha

Feature Type

protein coding gene
IDs

MGI:1919289
NCBI Gene: 72039
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr3:36013461-36054827 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 17.41 cM, cytoband B
Mapping Data

3 experiments

SNPs within 2kb

1467 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919289	protein coding gene	Chr3:36009584-36054843 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027153	protein coding gene	Chr3:33714582-33758430 (-)
A/J	MGP_AJ_G0027113	protein coding gene	Chr3:33087344-33129132 (-)
AKR/J	MGP_AKRJ_G0027082	protein coding gene	Chr3:33685911-33729525 (-)
BALB/cJ	MGP_BALBcJ_G0027125	protein coding gene	Chr3:32845784-32888860 (-)
C3H/HeJ	MGP_C3HHeJ_G0026868	protein coding gene	Chr3:33760490-33802182 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027571	protein coding gene	Chr3:35351719-35393502 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024932	protein coding gene	Chr3:30814285-30856675 (-)
CAST/EiJ	MGP_CASTEiJ_G0026321	protein coding gene	Chr3:33598021-33638958 (-)
CBA/J	MGP_CBAJ_G0026845	protein coding gene	Chr3:36287337-36332660 (-)
DBA/2J	MGP_DBA2J_G0026979	protein coding gene	Chr3:32561773-32603408 (-)
FVB/NJ	MGP_FVBNJ_G0026947	protein coding gene	Chr3:32003023-32050081 (-)
LP/J	MGP_LPJ_G0027091	protein coding gene	Chr3:34490606-34532609 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026967	protein coding gene	Chr3:38747149-38789516 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027630	protein coding gene	Chr3:33533407-33575983 (-)
PWK/PhJ	MGP_PWKPhJ_G0026054	protein coding gene	Chr3:32208781-32250417 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025866	protein coding gene	Chr3:32913390-32956140 (-)
WSB/EiJ	MGP_WSBEiJ_G0026395	protein coding gene	Chr3:33563498-33606126 (-)

Human Ortholog

MCCC1, methylcrotonyl-CoA carboxylase subunit 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MCCC1, methylcrotonyl-CoA carboxylase subunit 1
Synonyms

MCCA, MCC-B, MCCCalpha
Links

HGNC:6936

NCBI Gene ID: 56922

neXtProt AC: NX_Q96RQ3

UniProt: Q96RQ3
Chr Location

3q27.1; chr3:183015218-183116196 (-) GRCh38

MGI Vertebrate Homology

Mccc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MCCC1
Gene Tree

Mccc1

Diseases

1 with human MCCC1 associations

				Human Disease	Mouse Models
				3-methylcrotonyl-CoA carboxylase 1 deficiency IDs 3-methylcrotonyl-CoA carboxylase 1 deficiency DOID:0080579 MESH:C535308 OMIM:210200

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
7 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

4
Endonuclease-mediated

1
Radiation induced

1
Targeted

2
Genomic Mutations

1 involving Mccc1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

16
GO References

11

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	membraneless 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

800
Tissues

94
cDNA Data

17
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mccc1

ZFIN mccc1

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All Sequences

63
RefSeq

4
UniProt

5
CCDS

CCDS17307.1

Ensembl

ENSMUSG00000027709 (Evidence)
NCBI Gene

72039

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027709	Ensembl Gene Model \| MGI Sequence Detail	41367	C57BL/6J	± kb
transcript	ENSMUST00000029259	Ensembl \| MGI Sequence Detail	2455	Not Applicable
polypeptide	ENSMUSP00000029259	Ensembl \| MGI Sequence Detail	717	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000010233 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

(term hierarchy)
EC

6.4.1.4
InterPro Domains

IPR011761 ATP-grasp fold

IPR013815 ATP-grasp fold, subdomain 1

IPR001882 Biotin-binding site

IPR005482 Biotin carboxylase, C-terminal

IPR005481 Biotin carboxylase-like, N-terminal domain

IPR011764 Biotin carboxylation domain

IPR050856 Biotin-dependent Carboxylase Complex

IPR000089 Biotin/lipoyl attachment

IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain

IPR016185 Pre-ATP-grasp domain superfamily

IPR011054 Rudiment single hybrid motif

IPR011053 Single hybrid motif
GlyGen

Q99MR8 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 18

cDNA 17

Primer pair 1

Microarray probesets 5

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MGI:1917422, MGI:2140108

Summaries

All 46

Developmental Gene Expression 2

Diseases 1

Gene Ontology 11

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Mccc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr33015	Chr3:36054811-36054831 (-)	6 bp
Tssr33014	Chr3:36054799-36054809 (-)	23 bp
Tssr33013	Chr3:36054766-36054796 (-)	46 bp
Tssr33012	Chr3:36054713-36054757 (-)	92 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 11/12/2024 MGI 6.24