CleftGeneDB-Search

Gene: Mtrr

Basic information

Tag	Content
Uniprot ID	A0A0R4J0G9
Entrez ID	210009
Genbank protein ID
Genbank nucleotide ID	XM_006517182.1; XM_006517181.3; NM_172480.3; XM_006517179.3; NM_001308475.1;
Ensembl protein ID	ENSMUSP00000039810; ENSMUSP00000152387;
Ensembl nucleotide ID	ENSMUSG00000034617
Gene name	Methionine synthase reductase
Gene symbol	Mtrr
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MRRFLLLYAT QRGQAKAIAE EISEQAVSHG FSADLHCISE SEKYDLKTET GPLVMVVSTT 60 GTGDPPDTAR KFVKEIHNKT LPTDYFAHLQ YGLLGLGDSE YTYFCNGGKV IDKRLQELGA 120 QRFYDTGHAD DCVGLELVVE PWIDGLWAAL TKHFKSLGGQ ENMSDTLSRA SDAPLSTAMK 180 PELLHIQSQV ELLRLEDMGE RDSELREQNE TNRGQQGRIE DFDSSLVHSV PPLSQSSLSI 240 PAVPPEYLEV HLQESLGQEE NQASVPSGDP SFQVPISKAI RLTTNDAVKS TLLLELDISK 300 IEFSHQPGDS FNVTCPNSDR EVEELLQRLQ LADKRAHRVI LKIKTDTKKK GAALPAHVPE 360 GRSLQFILTW CLEIRAVPKK AFLRALAEHT SSATEKRRLQ ELCSKQGAAD YNRFIRDASV 420 CLLDLLLTFP SCQPPLSLLL EHLPKLQPRP YSCASSSLRH PDKLHFVFNI VEFPPSTTAA 480 SLRKGVCTGW LATLVAPFLQ PNTDVSNVDS GDALAPEIRI SPRATNAFHL PEDPSAPIIM 540 VGPGTGVAPF VGFLQHREKL QEQHPDGKFG AMWLFFGCRH KDRDYLFREE LRHFLKTGVL 600 THLKVSFSRD AAPDGEEAPA KYVQDNLQRH SQQVARTLLQ ENGYVYVCGD AKNMAKDVND 660 TLIGIISNEA GVDKLEAMKT LATLKQEKRY LQDIWS 696

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	Cleft type	Species	Evidence	Details
1:1 ortholog	MTRR	507991	F1MGP5		Bos taurus	Prediction	More>>
1:1 ortholog	MTRR	102171193	A0A452F9C4		Capra hircus	Prediction	More>>
1:1 ortholog	MTRR	4552	Q9UBK8	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Mtrr	210009	A0A0R4J0G9		Mus musculus	Prediction	More>>
1:1 ortholog	MTRR	461717	H2QQM3		Pan troglodytes	Prediction	More>>
1:1 ortholog	MTRR		F1S0T1		Sus scrofa	Prediction	More>>
1:1 ortholog	Mtrr	290947	Q498R1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mtrr	560667	F1RE28		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MTRR	rs1801394; c.66A>G	PCR-RFLP	27167580
MTRR	rs1801394; c.66A>G (protective)	meta analysis	32124929
MTRR	rs1801394; c.66A>G	Genotyping	26963196

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs51607956	p.Gln90Arg	missense variant	-	NC_000079.6:g.68579557T>C	UniProt
rs228018396	p.Val110Ile	missense variant	-	NC_000079.6:g.68577661C>T	UniProt
rs49034975	p.Asn162Lys	missense variant	-	NC_000079.6:g.68575306G>C	UniProt
rs253353379	p.Ser168Pro	missense variant	-	NC_000079.6:g.68575290A>G	UniProt
rs47939525	p.Ala173Thr	missense variant	-	NC_000079.6:g.68575275C>T	UniProt
rs249042934	p.Asp197Glu	missense variant	-	NC_000079.6:g.68575201G>T	UniProt
rs3688493	p.Met198Val	missense variant	-	NC_000079.6:g.68575200T>C	UniProt
rs47982597	p.Asn209Asp	missense variant	-	NC_000079.6:g.68575167T>C	UniProt
rs231212580	p.Gly214Ser	missense variant	-	NC_000079.6:g.68575152C>T	UniProt
rs240150603	p.Ser239Asn	missense variant	-	NC_000079.6:g.68575076C>T	UniProt
rs47928040	p.Leu256Phe	missense variant	-	NC_000079.6:g.68575026G>A	UniProt
rs254500805	p.Glu324Asp	missense variant	-	NC_000079.6:g.68571149T>A	UniProt
rs258656113	p.His337Tyr	missense variant	-	NC_000079.6:g.68571112G>A	UniProt
rs260879538	p.Arg362Ser	missense variant	-	NC_000079.6:g.68570060G>T	UniProt
rs264355025	p.Pro430Gln	missense variant	-	NC_000079.6:g.68568804G>T	UniProt
rs265780357	p.Arg459Leu	missense variant	-	NC_000079.6:g.68566243C>A	UniProt
rs227404603	p.Arg459Cys	missense variant	-	NC_000079.6:g.68566244G>A	UniProt
rs50224447	p.Leu482Pro	missense variant	-	NC_000079.6:g.68566174A>G	UniProt
rs48039369	p.Val508Ala	missense variant	-	NC_000079.6:g.68566096A>G	UniProt
rs47456674	p.Ala513Thr	missense variant	-	NC_000079.6:g.68566082C>T	UniProt
rs249667300	p.Met572Ile	missense variant	-	NC_000079.6:g.68564647C>T	UniProt
rs239240073	p.Ala611Thr	missense variant	-	NC_000079.6:g.68564435C>T	UniProt
rs49091341	p.Val645Ile	missense variant	-	NC_000079.6:g.68564333C>T	UniProt
rs46118283	p.Ala651Val	missense variant	-	NC_000079.6:g.68562427G>A	UniProt
rs46118283	p.Ala651Asp	missense variant	-	NC_000079.6:g.68562427G>T	UniProt
rs47793946	p.Asn668Lys	missense variant	-	NC_000079.6:g.68562375A>T	UniProt
rs49432849	p.Gly671Asp	missense variant	-	NC_000079.6:g.68562367C>T	UniProt
rs52002155	p.Ala677Ser	missense variant	-	NC_000079.6:g.68562350C>A	UniProt
rs52002155	p.Ala677Pro	missense variant	-	NC_000079.6:g.68562350C>G	UniProt
rs580227079	p.Thr680Met	missense variant	-	NC_000079.6:g.68562340G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-1430728	Metabolism	IEA
R-MMU-156580	Phase II - Conjugation of compounds	IEA
R-MMU-156581	Methylation	IEA
R-MMU-1614635	Sulfur amino acid metabolism	IEA
R-MMU-196741	Cobalamin (Cbl, vitamin B12) transport and metabolism	IEA
R-MMU-196849	Metabolism of water-soluble vitamins and cofactors	IEA
R-MMU-196854	Metabolism of vitamins and cofactors	IEA
R-MMU-211859	Biological oxidations	IEA
R-MMU-71291	Metabolism of amino acids and derivatives	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR003097	CysJ-like_FAD-binding
IPR017927	FAD-bd_FR_type
IPR001094	Flavdoxin-like
IPR008254	Flavodoxin/NO_synth
IPR001709	Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR029039	Flavoprotein-like_sf
IPR039261	FNR_nucleotide-bd
IPR023173	NADPH_Cyt_P450_Rdtase_alpha
IPR001433	OxRdtase_FAD/NAD-bd
IPR017938	Riboflavin_synthase-like_b-brl

PROSITE

PROSITE ID	PROSITE Term
PS51384	FAD_FR
PS50902	FLAVODOXIN_LIKE

Pfam

Pfam ID	Pfam Term
PF00667	FAD_binding_1
PF00258	Flavodoxin_1
PF00175	NAD_binding_1

Gene: Mtrr

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-miRNA interaction