Gene: MTHFD1L

Basic information

Tag Content
Uniprot ID A0A452G6W1
Entrez ID 102188948
Genbank protein ID
Genbank nucleotide ID XM_018053357.1
Ensembl protein ID ENSCHIP00000032334
Ensembl nucleotide ID ENSCHIG00000026337
Gene name Uncharacterized protein
Gene symbol MTHFD1L
Organism Capra hircus
NCBI taxa ID 9925
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MSALLPLVLR RLARPQHPGP PRRLPSLCRP SSSGGSGCGS GEGLLGQQRL PDTQAGSSRG 60
PSSPAPPARD SIVREIIQNS KEVLSLLQEK TPTFKPVLAV IQAGDDNLMQ EVNQNLAEEA 120
GLNITHICLP AESGEDEIID EILKINEDSR VHGLALQIAE TSLSSKILNA LKPEKDVDGL 180
TDVNLGKLVR GDAHECFISP VARAVIELLE KSGVSLDGKK ILVIGAHGSL EATLQCLFQR 240
KGSMTMSSQW KTPQLQGKLQ EADIVVLGSP KPEEIPLSWI QLGTTVFNCS HDFLSGKAAC 300
VSPGVHGISP IAEDVSLLAA ALRIQNMVSS GRRWLREQQH RRWRLHCLKL QPLSPVPSDI 360
EISRAQTPKA VEILAKEIGL FADEIEIYGK SKAKVRLSLL ERLKDQADGK YVLVAGITPT 420
PLGEGKSTVT IGLVQALTAH LNVNSFACLR QPSQGPTFGV KGGAAGGGYA QVIPMEEFNL 480
HLTGDIHAIT AANNLLAAAI DARILHENTQ TDKALYNRLV PSVNGVREFS KIQLARLKRL 540
GISKTDPSAL TEEEMRKFAR LDIDPSTITW QRVVDTNDRF LRKITVGQAS TEKGCSRQAQ 600
FDIAVASEIM AVLALTDSLA DMKERLGRMV VASDKNGQPV TADDLGVTGA LTVLMKDAIK 660
PNLMQTLEGT PVFVHAGPFA NIAHGNSSVL ADKIALKLVG EGGFVVTEAG FGADIGMEKF 720
FNIKCRASGL VPNVVVLVAT VRALKMHGGG PSVTAGVPLK KEYTEENLQL VADGCCNLEK 780
QIQIAQLFGV PVVVALNVFK TDTRAEIDLV CELAKRAGAF NAVPCYHWSI GGKGSVDLAW 840
AVREAASKES RFQFLYDVQL PIVEKIRTIA QSVYGAKDIE LSPEAQSKID RYTEQGFGNL 900
PICMAKTHLS LSHQPDKKGV PKGFILPISD VRASIGAGFI YPLVGTMSTM PGLPTRPCFY 960
DIDLDTETEQ VKGLF 975

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:0005739 mitochondrion
GO:0005524 ATP binding
GO:0004329 formate-tetrahydrofolate ligase activity
GO:0004488 methylenetetrahydrofolate dehydrogenase (NADP+) activity
GO:0048702 embryonic neurocranium morphogenesis
GO:0048703 embryonic viscerocranium morphogenesis
GO:0001843 neural tube closure

Functional annotations

Keywords

Keyword ID Keyword Term
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