CleftGeneDB-Search

Gene: Mid1

Basic information

Tag	Content
Uniprot ID	O70583; B1AV00; O35418; Q7TPT6;
Entrez ID	17318
Genbank protein ID	AAB83986.1; AAH53704.1; CAA75113.1;
Genbank nucleotide ID	NM_001290504.1; NM_001290505.1; XM_017318409.1; XM_017318410.1; NM_001290506.1; XM_017318408.1; NM_010797.3; XM_011247789.2;
Ensembl protein ID	ENSMUSP00000107733; ENSMUSP00000126746; ENSMUSP00000128176; ENSMUSP00000107732; ENSMUSP00000038765;
Ensembl nucleotide ID	ENSMUSG00000035299
Gene name	E3 ubiquitin-protein ligase Midline-1
Gene symbol	Mid1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.
Sequence	METLESELTC PICLELFEDP LLLPCAHSLC FNCAHRILVS HCATNEPVES INAFQCPTCR 60 HVITLSQRGL DGLKRNVTLQ NIIDRFQKAS VSGPNSPSET RRERAFDANT MSSAEKVLCQ 120 FCDQDPAQDA VKTCVTCEVS YCDECLKATH PNKKPFTGHR LIEPIPDSHI RGLMCLEHED 180 EKVNMYCVTD DQLICALCKL VGRHRDHQVA ALSERYDKLK QNLESNLTNL IKRNTELETL 240 LAKLIQTCQH VEVNASRQEA KLTEECDLLI EIIQQRRQII GTKIKEGKVI RLRKLAQQIA 300 NCKQCLERSA SLISQAEHSL KENDHARFLQ TAKNITERVS MATASSQVLI PEINLNDTFD 360 TFALDFSREK KLLECLDYLT APNPPAIREE LCTASYDTIT VHWTSEDEFS VVSYELQYTI 420 FTGQANVVNV ACDGTCLLGS AGLCNSADSW MIVPNIKQNH YTVHGLQSGT KYIFTVKAIN 480 QAGSRSSEPG KLKTNSQPFR LDPKSAHRKL KVSHDNLTVE RDESSSKKSH APERFAGQGS 540 YGVAGNVFID SGRHYWEVVT SGSTWYAIGL AYRSAPKHEW IGKNAASWAL CRCHNHWAVR 600 HDGKETPIAP APHLRRVGVL LDYDNGSIAF YDALSSVHLH TFHAALAQPV CPTFTVWNKC 660 LTIVTGLPIP DHLDCTEQRP

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	MID1	534604	E1BAD8	Bos taurus	Prediction	More>>
1:1 ortholog	MID1	491737	A0A5F4CNE1	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MID1	102174822	A0A452EDX1	Capra hircus	Prediction	More>>
1:1 ortholog	MID1	100049999	F7CLC3	Equus caballus	Prediction	More>>
1:1 ortholog	MID1	4281	O15344	Homo sapiens	Publication	More>>
1:1 ortholog	Mid1	17318	O70583	Mus musculus	Prediction	More>>
1:1 ortholog	MID1		H2QYA1	Pan troglodytes	Prediction	More>>
1:1 ortholog	MID1	100524415	A0A5G2R4L4	Sus scrofa	Prediction	More>>
1:1 ortholog	Mid1	54252	P82458	Rattus norvegicus	Prediction	More>>
1:1 ortholog	mid1	100330952	E7FAU0	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MID1	c.1745insG	Direct sequencing; SSCP	9354791
MID1	c.1787ins24bp	Direct sequencing; SSCP	9354791
MID1	p.delM438;	Direct sequencing; SSCP	9354791
MID1	c.434G>A; pCys145Tyr	PCR; sequencing	17221865
MID1	c.1793delC; p.His600fs	PCR; sequencing	17221865
MID1	ex1-9 deletion	PCR; sequencing	17221865
MID1	c.1285+1G>T	PCR; sequencing	17221865
MID1	c.397_401delACCTG; p.Thr133fs	PCR; sequencing	17221865
MID1	c.1832A>G; p.Asp611Gly	PCR; sequencing	17221865
MID1	c.819_829del11; p.Ile2273fs	PCR; sequencing	17221865
MID1	c.864+1G>T;	PCR; sequencing	17221865
MID1	c.388G>A; p.Ala130Ser	PCR; sequencing	17221865
MID1	c.1141+2T>C;	PCR; sequencing	17221865
MID1	c.1573C>T; p.Glu525*	PCR; sequencing	17221865
MID1	ex1 deletion	PCR; sequencing	17221865
MID1	c.712G>T; p.Glu238*	PCR; sequencing	17221865
MID1	c.1856_1858delATG; p.Met619del	PCR; sequencing	17221865
MID1	c.1957G>A; p.Gly653Arg	PCR; sequencing	17221865
MID1	c.1611_1612insTGAT; p.Ser538*	PCR; sequencing	17221865
MID1	c.1108A>G; p.Lys370Glu	PCR; sequencing	17221865
MID1	c.389A>T; p.Ala130Val	PCR; sequencing	17221865
MID1	c.561T>A; p.Cys187*	PCR; sequencing	17221865
MID1	c.1605_1606insGTTT; p.Ile536fs	PCR; sequencing	17221865
MID1	c.1594G>A; p.Gly532Arg	PCR; sequencing	17221865
MID1	c.1452_1455delACCA; p.Gln484fs	PCR; sequencing	17221865
MID1	c.430G>T; p.Glu144*	PCR; sequencing	17221865
MID1	c.425G>C; p.Gys142Ser	PCR; sequencing	17221865
MID1	c.1491-1533dup43; p.Ser511fs	PCR; sequencing	17221865
MID1	c.1663A>G; p.Ile555Val	PCR; sequencing	17221865
MID1	c.1286-1G>T	PCR; sequencing	31630581
MID1	haplotype combination rs2525073C/rs5934910G (protective)	Genotyping and TDT	19049519
MID1	haplotype combination rs869917T/rs2525073C/rs5934910G (protective)	Genotyping and TDT	19049519

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs261059442	p.Ile37Val	missense variant	-	NC_000086.7:g.169927118A>G	UniProt
rs242084437	p.Asn45Asp	missense variant	-	NC_000086.7:g.169927142A>G	UniProt
rs265033598	p.Ile51Thr	missense variant	-	NC_000086.7:g.169927161T>C	UniProt
rs225930754	p.Asn52His	missense variant	-	NC_000086.7:g.169927163A>C	UniProt
rs239220937	p.Asn52Ser	missense variant	-	NC_000086.7:g.169927164A>G	UniProt
rs31816666	p.Ile63Thr	missense variant	-	NC_000086.7:g.169927197T>C	UniProt
rs227999551	p.Ser66Gly	missense variant	-	NC_000086.7:g.169927205A>G	UniProt
rs247127194	p.Gln67Arg	missense variant	-	NC_000086.7:g.169927209A>G	UniProt
rs31816669	p.Lys74Arg	missense variant	-	NC_000086.7:g.169927230A>G	UniProt
rs216287332	p.Lys147Arg	missense variant	-	NC_000086.7:g.169927449A>G	UniProt
rs239057203	p.Ile165Thr	missense variant	-	NC_000086.7:g.169927503T>C	UniProt
rs31817621	p.Asp180His	missense variant	-	NC_000086.7:g.169927547G>C	UniProt
rs221927393	p.Val188Ala	missense variant	-	NC_000086.7:g.169927572T>C	UniProt
rs246763832	p.Lys218Arg	missense variant	-	NC_000086.7:g.169927662A>G	UniProt
rs244098199	p.Asn229His	missense variant	-	NC_000086.7:g.169966087A>C	UniProt
rs225704370	p.Asn323Ser	missense variant	-	NC_000086.7:g.169981988A>G	UniProt
rs218494549	p.Phe362Leu	missense variant	-	NC_000086.7:g.169984028T>G	UniProt
rs236672773	p.Asn383Ser	missense variant	-	NC_000086.7:g.169985005A>G	UniProt
rs51347933	p.Pro384Ala	missense variant	-	NC_000086.7:g.169985007C>G	UniProt
rs246821055	p.Glu408Ala	missense variant	-	NC_000086.7:g.169985080A>C	UniProt
rs261099376	p.Ile420Val	missense variant	-	NC_000086.7:g.169985115A>G	UniProt
rs213128084	p.Gln424His	missense variant	-	NC_000086.7:g.169985129A>C	UniProt
rs222930233	p.Thr435Ala	missense variant	-	NC_000086.7:g.169985914A>G	UniProt
rs265585866	p.Asn445His	missense variant	-	NC_000086.7:g.169985944A>C	UniProt
rs231422450	p.Thr475Met	missense variant	-	NC_000086.7:g.169986035C>T	UniProt
rs252465181	p.Ala482Val	missense variant	-	NC_000086.7:g.169986056C>T	UniProt
rs248631694	p.Ser486Gly	missense variant	-	NC_000086.7:g.169986067A>G	UniProt
rs230569606	p.Lys491Thr	missense variant	-	NC_000086.7:g.169986083A>C	UniProt
rs212645497	p.Arg500Thr	missense variant	-	NC_000086.7:g.169987571G>C	UniProt
rs223022585	p.Ser524Ala	missense variant	-	NC_000086.7:g.169987642T>G	UniProt
rs46139221	p.Ser540Cys	missense variant	-	NC_000086.7:g.169987690A>T	UniProt
rs258987275	p.Ser561Gly	missense variant	-	NC_000086.7:g.169987753A>G	UniProt
rs265446813	p.Tyr566Cys	missense variant	-	NC_000086.7:g.169988865A>G	UniProt
rs265446813	p.Tyr566Phe	missense variant	-	NC_000086.7:g.169988865A>T	UniProt
rs247541267	p.Lys577Arg	missense variant	-	NC_000086.7:g.169988898A>G	UniProt
rs215402680	p.His596Arg	missense variant	-	NC_000086.7:g.169988955A>G	UniProt
rs240977393	p.Ser635Gly	missense variant	-	NC_000086.7:g.169989071A>G	UniProt
rs222513880	p.Ile663Val	missense variant	-	NC_000086.7:g.169989155A>G	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008017	microtubule binding	ISO
GO:0008270	zinc ion binding	IEA
GO:0016740	transferase activity	IEA
GO:0019899	enzyme binding	ISO
GO:0031625	ubiquitin protein ligase binding	ISO
GO:0042802	identical protein binding	ISO
GO:0042803	protein homodimerization activity	ISO
GO:0051219	phosphoprotein binding	ISO

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007026	negative regulation of microtubule depolymerization	IGI
GO:0032874	positive regulation of stress-activated MAPK cascade	ISO
GO:0035372	protein localization to microtubule	ISO

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005874	microtubule	ISO
GO:0015630	microtubule cytoskeleton	IDA
GO:0005881	cytoplasmic microtubule	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0479	Metal-binding
KW-0493	Microtubule
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0808	Transferase
KW-0833	Ubl conjugation pathway
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001870	B30.2/SPRY
IPR043136	B30.2/SPRY_sf
IPR003649	Bbox_C
IPR003879	Butyrophylin_SPRY
IPR013320	ConA-like_dom_sf
IPR017903	COS_domain
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR013783	Ig-like_fold
IPR027727	MID1
IPR040859	Midline-1_COS
IPR006574	PRY
IPR003877	SPRY_dom
IPR027370	Znf-RING_LisH
IPR000315	Znf_B-box
IPR001841	Znf_RING
IPR013083	Znf_RING/FYVE/PHD
IPR017907	Znf_RING_CS

PROSITE

PROSITE ID	PROSITE Term
PS50188	B302_SPRY
PS51262	COS
PS50853	FN3
PS50119	ZF_BBOX
PS00518	ZF_RING_1
PS50089	ZF_RING_2

Pfam

Pfam ID	Pfam Term
PF18568	COS
PF00041	fn3
PF13765	PRY
PF00622	SPRY
PF00643	zf-B_box
PF13445	zf-RING_UBOX

Gene: Mid1

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction