Mmp1a MGI Mouse Pseudogene Detail - MGI:1933846 - matrix metallopeptidase 1a (interstitial collagenase)

Symbol

Mmp1a
Name

matrix metallopeptidase 1a (interstitial collagenase)
Synonyms

Mcol-A

Feature Type

polymorphic pseudogene

BioType Conflict
IDs

MGI:1933846
NCBI Gene: 83995
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr9:7464141-7476857 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 2.46 cM, cytoband A1-A2
Mapping Data

1 experiment

SNPs within 2kb

443 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1933846	polymorphic pseudogene	Chr9:7464141-7476870 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034322	protein coding gene	Chr9:4330059-4344934 (+)
A/J	MGP_AJ_G0034300	protein coding gene	Chr9:4418351-4433872 (+)
AKR/J	MGP_AKRJ_G0034228	protein coding gene	Chr9:4293207-4310755 (+)
BALB/cJ	MGP_BALBcJ_G0034294	protein coding gene	Chr9:4164201-4177266 (+)
C3H/HeJ	MGP_C3HHeJ_G0034005	protein coding gene	Chr9:4496438-4512967 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034816	protein coding gene	Chr9:4494169-4508563 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031754	protein coding gene	Chr9:3727446-3740464 (+)
CAST/EiJ	MGP_CASTEiJ_G0033332	protein coding gene	Chr9:4440588-4517672 (+)
CBA/J	MGP_CBAJ_G0033978	protein coding gene	Chr9:4587035-4604822 (+)
DBA/2J	MGP_DBA2J_G0034135	protein coding gene	Chr9:4325895-4340676 (+)
FVB/NJ	MGP_FVBNJ_G0034080	protein coding gene	Chr9:4081069-4097084 (+)
LP/J	MGP_LPJ_G0034221	protein coding gene	Chr9:4376878-4390464 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034124	protein coding gene	Chr9:5310278-5346688 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034835	protein coding gene	Chr9:4289600-4310394 (+)
PWK/PhJ	MGP_PWKPhJ_G0033036	protein coding gene	Chr9:4450213-4462642 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032874	protein coding gene	Chr9:4541537-4555727 (+)
WSB/EiJ	MGP_WSBEiJ_G0033448	protein coding gene	Chr9:4311417-4328549 (+)

Human Ortholog

MMP1, matrix metallopeptidase 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MMP1, matrix metallopeptidase 1
Synonyms

CLG, CLGN
Links

HGNC:7155

NCBI Gene ID: 4312

neXtProt AC: NX_P03956

UniProt: P03956
Chr Location

11q22.2; chr11:102789401-102798160 (-) GRCh38

MGI Vertebrate Homology

Mmp1a stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: MMP1
Protein SuperFamily

Peptidase_M10A_matrix
Gene Tree

Mmp1a

Diseases

34 with human MMP1 associations

				Human Disease	Mouse Models
				abdominal aortic aneurysm IDs abdominal aortic aneurysm DOID:7693 EFO:0004214 MESH:D017544 NCI:C27000 OMIM:100070 OMIM:609782 OMIM:611891 OMIM:614375 UMLS_CUI:C0162871
				aortic valve stenosis IDs aortic valve stenosis DOID:1712 DOID:12034 DOID:1711 ICD10CM:I06.0 ICD10CM:Q23.0 ICD9CM:395.0 ICD9CM:746.3 MESH:D001024 NCI:C50462 UMLS_CUI:C0003507 UMLS_CUI:C0152417 UMLS_CUI:C0155567
				arteriosclerosis IDs arteriosclerosis DOID:2349 ICD10CM:I70 MESH:D001161 NCI:C34398 UMLS_CUI:C0003850
				atherosclerosis IDs atherosclerosis DOID:1936 EFO:0003914 ICD10CM:I70 ICD9CM:440 MESH:D050197 NCI:C35768 UMLS_CUI:C0004153
				atrial fibrillation IDs atrial fibrillation DOID:0060224 ICD9CM:427.31 MESH:D001281 NCI:C50466 UMLS_CUI:C0004238
				Barrett's esophagus IDs Barrett's esophagus DOID:9206 EFO:0000280 ICD10CM:K22.7 ICD9CM:530.85 MESH:D001471 NCI:C2891 OMIM:614266 UMLS_CUI:C0004763
				breast cancer IDs breast cancer DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD9CM:174.8 MESH:D001943 NCI:C9335 OMIM:114480 UMLS_CUI:C0006142
				carotid artery disease IDs carotid artery disease DOID:3407 MESH:D002340 NCI:C84476 UMLS_CUI:C0007273
				carotid stenosis IDs carotid stenosis DOID:13001 MESH:D016893 NCI:C95804 UMLS_CUI:C0007282
				cervical cancer IDs cervical cancer DOID:4362 DOID:4361 ICD10CM:C53 ICD9CM:180 ICD9CM:180.9 MESH:D002583 NCI:C2940 NCI:C9311 OMIM:603956 UMLS_CUI:C0007847 UMLS_CUI:C0007873
				congestive heart failure IDs congestive heart failure DOID:6000 DOID:395 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 ICD9CM:428.9 MESH:D006333 NCI:C3080 NCI:C50577 UMLS_CUI:C0018801 UMLS_CUI:C0018802
				coronary artery disease IDs coronary artery disease DOID:3393 DOID:10506 DOID:3363 DOID:3394 DOID:9420 EFO:0001645 ICD10CM:I20-I25 ICD10CM:I25 ICD10CM:I25.10 ICD9CM:410-414.99 ICD9CM:414.0 ICD9CM:414.9 MESH:D003324 MESH:D003327 MESH:D017202 NCI:C35505 NCI:C50625 OMIM:300464 OMIM:607339 OMIM:608316 OMIM:608318 OMIM:608320 OMIM:610947 OMIM:611139 OMIM:612030 OMIM:614293 UMLS_CUI:C0010054 UMLS_CUI:C0010068 UMLS_CUI:C0151744 UMLS_CUI:C0264694
				dilated cardiomyopathy IDs dilated cardiomyopathy DOID:12930 EFO:0000407 ICD10CM:I42.0 KEGG:05414 MESH:D002311 NCI:C84673 OMIM:PS115200 ORDO:217604 UMLS_CUI:C0007193
				end stage renal disease IDs end stage renal disease DOID:783
				epidermolysis bullosa dystrophica IDs epidermolysis bullosa dystrophica DOID:4959 ICD10CM:Q81.2 MESH:D016108 NCI:C84691 UMLS_CUI:C0079294
				esophagus adenocarcinoma IDs esophagus adenocarcinoma DOID:4914 MESH:C562730 NCI:C4025 UMLS_CUI:C0279628
				hypertension IDs hypertension DOID:10763 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 UMLS_CUI:C0020538
				hypertrophic cardiomyopathy IDs hypertrophic cardiomyopathy DOID:11984 DOID:11986 ICD9CM:425.1 ICD9CM:425.11 KEGG:05410 MESH:D002312 NCI:C34449 ORDO:217569 UMLS_CUI:C0007194
				intermediate coronary syndrome IDs intermediate coronary syndrome DOID:8805 ICD10CM:I20.0 ICD9CM:411.1 MESH:D000789 NCI:C66911 UMLS_CUI:C0002965
				localized scleroderma IDs localized scleroderma DOID:8472 ICD10CM:L94.0 ICD9CM:701.0 MESH:D012594 NCI:C72069 UMLS_CUI:C0036420
				lung cancer IDs lung cancer DOID:1324 DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493
				myocardial infarction IDs myocardial infarction DOID:5844 EFO:0000612 ICD10CM:I21 MESH:D009203 NCI:C27996 OMIM:608557 UMLS_CUI:C0027051
				obstructive lung disease IDs obstructive lung disease DOID:2320 MESH:D008173 UMLS_CUI:C0600260
				ocular hypertension IDs ocular hypertension DOID:9282 ICD10CM:H40.05 ICD9CM:365.04 MESH:D009798 NCI:C3285 UMLS_CUI:C0028840
				ovarian cancer IDs ovarian cancer DOID:2394 DOID:0060070 DOID:2144 DOID:9595 ICD10CM:C56 ICD9CM:183.0 MESH:D010051 NCI:C4984 NCI:C7431 OMIM:167000 OMIM:607893 ORDO:213500 ORDO:213517 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247
				primary open angle glaucoma IDs primary open angle glaucoma DOID:1070 ICD10CM:H40.11 ICD9CM:365.11 MESH:D005902 NCI:C35394 OMIM:137760 UMLS_CUI:C0339573
				pulmonary emphysema IDs pulmonary emphysema DOID:9675 ICD10CM:J43.8 ICD9CM:492.8 OMIM:130700 UMLS_CUI:C0029607
				renal cell carcinoma IDs renal cell carcinoma DOID:4450 EFO:0000681 MESH:D002292 NCI:C9385 OMIM:300854 ORDO:217071 UMLS_CUI:C0007134
				renal fibrosis IDs renal fibrosis DOID:0050855
				skin melanoma IDs skin melanoma DOID:8923 DOID:0050609 DOID:10043 DOID:10046 DOID:10051 DOID:10052 DOID:10055 DOID:8922 ICD10CM:C43.9 ICD9CM:172 ICD9CM:172.0 ICD9CM:172.2 ICD9CM:172.4 ICD9CM:172.5 ICD9CM:172.9 MESH:C562393 NCI:C3510 OMIM:608035 OMIM:612263 UMLS_CUI:C0151779
				thoracic aortic aneurysm IDs thoracic aortic aneurysm DOID:14004 EFO:0004282 MESH:D017545 NCI:C27001 OMIM:132900 OMIM:607086 OMIM:607087 OMIM:611788 OMIM:613780 OMIM:615436 ORDO:91387 UMLS_CUI:C0162872
				thrombosis IDs thrombosis DOID:0060903 MESH:D013927
				urinary bladder cancer IDs urinary bladder cancer DOID:11054 DOID:5428 ICD10CM:C67 ICD9CM:188 ICD9CM:188.9 KEGG:05219 MESH:D001749 NCI:C2901 NCI:C9334 OMIM:109800 UMLS_CUI:C0005684 UMLS_CUI:C0005695
				varicose veins IDs varicose veins DOID:799 ICD10CM:I83.90 MESH:D014648 NCI:C35114 OMIM:192200 UMLS_CUI:C0042345

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

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
2 images
5 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

2
Endonuclease-mediated

1
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

41 strains or lines available

Mice homozygous for a knock-out allele exhibit reduced inflammatory response following chemical induction of tumors and male mice exhibit fewer large induced tumors.

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All GO Annotations

21
GO References

8

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

745
Tissues

25
cDNA Data

8
Literature Summary

12

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA MMP1

Xenbase mmp1

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All Sequences

29
RefSeq

2
UniProt

1

Ensembl

ENSMUSG00000043089 (Evidence)
NCBI Gene

83995

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043089	Ensembl Gene Model \| MGI Sequence Detail	12717	C57BL/6J	± kb
transcript	ENSMUST00000217651	Ensembl \| MGI Sequence Detail	2012	Not Applicable
polypeptide	ENSMUSP00000151193	Ensembl \| MGI Sequence Detail	464	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000010914 interstitial collagenase A

(term hierarchy)
EC

3.4.24.7
InterPro Domains

IPR018486 Hemopexin, conserved site

IPR000585 Hemopexin-like domain

IPR036375 Hemopexin-like domain superfamily

IPR018487 Hemopexin-like repeats

IPR024079 Metallopeptidase, catalytic domain superfamily

IPR021190 Peptidase M10A

IPR033739 Peptidase M10A, catalytic domain

IPR021158 Peptidase M10A, cysteine switch, zinc binding site

IPR001818 Peptidase M10, metallopeptidase

IPR006026 Peptidase, metallopeptidase

IPR002477 Peptidoglycan binding-like

IPR036365 PGBD-like superfamily
GlyGen

Q9EPL5 2 sites

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All nucleic 18

Genomic 4

cDNA 8

Primer pair 5

Other 1

Microarray probesets 2

Summaries

All 38

Developmental Gene Expression 12

Gene Ontology 8

Phenotypes 5
Earliest

J:68613 Balbin M, et al., Identification and enzymatic characterization of two diverging murine counterparts of human interstitial collagenase (MMP-1) expressed at sites of embryo implantation. J Biol Chem. 2001 Mar 30;276(13):10253-62
Latest

J:340401 Varadinkova S, et al., Expression dynamics of metalloproteinases during mandibular bone formation: association with Myb transcription factor. Front Cell Dev Biol. 2023;11:1168866

TSS for Mmp1a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr83743	Chr9:7464139-7464145 (+)	1 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