Manteia - Molecule gene

ENSMUSG00000029163

Mus musculus

Features

Gene ID:	ENSMUSG00000029163

Biological name :	Emilin1

Synonyms :	Emilin1 / Q99K41

Possible biological names infered from orthology :	elastin microfibril interfacer 1 / Q9Y6C2

Species:	Mus musculus

Chr. number:	5
Strand:	1
Band:	B1
Gene start:	30913402
Gene end:	30921277

Corresponding Affymetrix probe sets:	10520604 (MoGene1.0st) 1416414_at (Mouse Genome 430 2.0 Array) 1431834_a_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000031055 NCBI entrez gene - 100952 See in Manteia. MGI - MGI:1926189 RefSeq - XM_006503649 RefSeq - NM_133918 RefSeq - XM_006503648 RefSeq Peptide - NP_598679 swissprot - Q99K41 Ensembl - ENSMUSG00000029163

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
emilin1a	ENSDARG00000024537	Danio rerio
emilin1b	ENSDARG00000026166	Danio rerio
	ENSGALG00000033187	Gallus gallus
Q9Y6C2	ENSG00000138080	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Q8K482 / Emilin2 / Mus musculus elastin microfibril interfacer 2 (Emilin2), transcript variant 3, mRNA. / Q9BXX0* / elastin microfibril interfacer 2*	ENSMUSG00000024053	25
P59900 / Emilin3 / Q9NT22* / elastin microfibril interfacer 3*	ENSMUSG00000050700	16
Emid1 / Q91VF5 / EMI domain-containing protein 1 / Q96A84* / EMI domain containing 1*	ENSMUSG00000034164	11
Q91VF6 / Col26a1 / Mus musculus collagen, type XXVI, alpha 1 (Col26a1), transcript variant 2, mRNA. / Q96A83* / collagen type XXVI alpha 1 chain*	ENSMUSG00000004415	11

Protein motifs (from Interpro)

Interpro ID	Name
IPR001073	C1q domain
IPR008160	Collagen triple helix repeat
IPR008983	Tumour necrosis factor-like domain superfamily
IPR011489	EMI domain
IPR016133	Insect cysteine-rich antifreeze protein

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0007155	cell adhesion	IEA
biological_process	GO:0007160	cell-matrix adhesion	IEA
biological_process	GO:0010811	positive regulation of cell-substrate adhesion	IDA
biological_process	GO:0016477	cell migration	IEA
biological_process	GO:0030198	extracellular matrix organization	IDA
biological_process	GO:0070207	protein homotrimerization	IEA
cellular_component	GO:0005576	extracellular region	TAS
cellular_component	GO:0005581	collagen trimer	IEA
cellular_component	GO:0005615	extracellular space	IEA
cellular_component	GO:0031012	extracellular matrix	IEA
cellular_component	GO:0034668	integrin alpha4-beta1 complex	IEA
cellular_component	GO:1990971	EMILIN complex	IEA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0030023	extracellular matrix constituent conferring elasticity	IMP
molecular_function	GO:0042802	identical protein binding	IEA
molecular_function	GO:0098640	integrin binding involved in cell-matrix adhesion	IEA

Pathways (from Reactome)

Pathway description

Molecules associated with elastic fibres

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0001243	abnormal dermal layer morphology	"malformed or atypical condition of the dermal layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]	Show Allelic Composition: Pnpla6^tm1Mos/Pnpla6^tm1Mos Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0002551	abnormal blood coagulation	"altered ability or inability of the blood to clot" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Ntn1^tm1.2Tek/Ntn1^tm1.2Tek Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6 * SJL
MP:0009549	impaired platelet aggregation	"decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]	Show Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb,Emilin2^tm1.2Jhp/Emilin2^tm1.2Jhp Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb Genetic Background: involves: 129S1/Sv * 129X1/SvJ
MP:0009862	abnormal aorta elastic tissue morphology	"any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pnpla6^tm1Mos/Pnpla6^tm1Mos Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0009866	abnormal aorta wall morphology	"any structural anomaly of the part of the aorta that encloses the luminal space" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pnpla6^tm1Mos/Pnpla6^tm1Mos Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
MP:0012356	increased prothrombin time	"increased amount of time it takes plasma to clot after the addition of tissue factor e.g., platelet tissue factor, factor III, thromboplastin, CD142; measure of the quality of the extrinsic pathway of coagulation" [MPD:Molly]	Show Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000029675	Eln / P54320 / Elastin / P15502*	/ complex
ENSMUSG00000020522	Mfap3 / microfibril associated protein 3 / P55082*	/ complex / reaction
ENSMUSG00000017344	Vtn / P29788 / vitronectin / P04004*	/ complex / reaction
ENSMUSG00000024598	Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*	/ complex
ENSMUSG00000030116	Mfap5 / Q9QZJ6 / Microfibrillar-associated protein 5 / Q13361* / microfibril associated protein 5*	/ complex
ENSMUSG00000027204	Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*	/ complex
ENSMUSG00000042436	Mfap4 / Q9D1H9 / Microfibril-associated glycoprotein 4 / P55083* / microfibril associated protein 4*	/ complex / reaction
ENSMUSG00000029163	Q99K41 / Emilin1 / Q9Y6C2* / elastin microfibril interfacer 1*	/ complex / -
ENSMUSG00000021186	Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*	/ complex / reaction
ENSMUSG00000060572	Mfap2 / microfibril associated protein 2 / P55001*	/ complex
ENSMUSG00000048222	C0HKD9 / C0HKD8 / Mfap1b / Microfibrillar-associated protein 1A / MFAP1* / P55081* / microfibril associated protein 1*	/ complex / reaction

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr