Gene: Mthfd1l

Basic information

Tag Content
Uniprot ID B2GUZ3
Entrez ID 361472
Genbank protein ID AAI66462.1
Genbank nucleotide ID NM_001108462.2
Ensembl protein ID ENSRNOP00000026564
Ensembl nucleotide ID ENSRNOG00000019582
Gene name Methylenetetrahydrofolate dehydrogenase (NADP+-dependent) 1-like
Gene symbol Mthfd1l
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MSARLPLLLR QLGHQQLPPG PACRLRELCR SGSRSSSSGG GDPEGLRGRR LQDGQAFISH 60
SPGSPEDPGM DSIVRDVIHN SKEVLNLLQE KNPAFKPVLA VIQAGDDHLM QNVNQNLAKE 120
AGLDITHICL PPDSGEDEII DEILKINEDP RVHGLALQIS EDSLCNKVLN ALKPEKDVDG 180
VTDVNLGKLV RGDAPECFVS PLARAAVELI EKSGITLDGK KVLVIGAHGP LEAALQCLFQ 240
RKGSMTMSSP WITPQLQDKL READIVVLGS PKPDEIPAAW IPSGATMLNC FHDFLSGKLR 300
GGSPGVPMNR LIADESVSLL AAALRVQNMV NSGRRWLREQ QHRRWRLHCL KLQPLSPVPS 360
DIEISRGQTP KAVDVLAKEI GLLADEIEIY GKSKAKVRLS LLERLKDQTD GKYVLVAGIT 420
PTPLGEGKST VTIGLVQALT AHLNVNSFAC LRQPSQGPTF GVKGGAAGGG YAQVIPMEEF 480
NLHLTGDIHA ITAANNLLAA AIDTRIFHES TQTDKALYNR LVPLVNGVRK FSEIQLSRLK 540
KLGIHKTDPT ALTEEEVRKF TRLNIDPSTI TWQRVLDTND RFLRKITIGQ GSTEKGYSRQ 600
AQFDIAVASE IMAVLALTDS LADMKERLGR MVVASDKDGQ PVTAEDLGVT GALTVLMKDA 660
IKPNLMQTLE GTPVFVHAGP FANIAHGNSS VLADKIALKL VGEEGFVVTE AGFGADIGME 720
KFFNIKCRAS GLVPNVVVLV ATVRALKMHG GGPSVTAGVP LKKEYTEENI QLVADGCCNL 780
QKQIQIAQLF GVPVVVALNV FKTDTRAEID LVCELAKRAG AFDAVPCYHW SAGGKGSVDL 840
ARAVREAANK RSRFRFLYDV QLPIVAKIRV IAQTVYGAKD IELSPEAQAK IDRYTQQGFG 900
NLPICMAKTH LSLSHEPDKK GVPRDFILPI SDVRASIGAG FIYPLVGMMS TMPGLPTRPC 960
FYDIDLDTET EQVKGLF 977

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 disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMTHFD1L102188948A0A452G6W1Capra hircusPredictionMore>>
1:1 orthologMTHFD1L25902B7ZM99Homo sapiensPredictionMore>>
1:1 orthologMthfd1l270685Q3V3R1CPOMus musculusPublicationMore>>
1:1 orthologH2QTW9Pan troglodytesPredictionMore>>
1:1 orthologMTHFD1LF1S7V9Sus scrofaPredictionMore>>
1:1 orthologMthfd1l361472B2GUZ3Rattus norvegicusPredictionMore>>
1:1 orthologmthfd1l100034522F1QQ79Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005524 ATP binding
GO:0004329 formate-tetrahydrofolate ligase activity
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0042803 protein homodimerization activity
GO:0009257 10-formyltetrahydrofolate biosynthetic process
GO:0048702 embryonic neurocranium morphogenesis
GO:0048703 embryonic viscerocranium morphogenesis
GO:0006760 folic acid-containing compound metabolic process
GO:0015942 formate metabolic process
GO:0001843 neural tube closure
GO:0009113 purine nucleobase biosynthetic process

Functional annotations

Keywords

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

Interpro

InterPro ID InterPro Term
IPR000559 Formate_THF_ligase
IPR020628 Formate_THF_ligase_CS
IPR036291 NAD(P)-bd_dom_sf
IPR027417 P-loop_NTPase
IPR000672 THF_DH/CycHdrlase
IPR020630 THF_DH/CycHdrlase_cat_dom
IPR020631 THF_DH/CycHdrlase_NAD-bd_dom

PROSITE

PROSITE ID PROSITE Term
PS00721 FTHFS_1
PS00722 FTHFS_2

Pfam

Pfam ID Pfam Term
PF01268 FTHFS
PF00763 THF_DHG_CYH
PF02882 THF_DHG_CYH_C