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Protein

Methenyltetrahydrofolate synthase domain-containing protein

Gene

MTHFSD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Methenyltetrahydrofolate synthase domain-containing protein
Gene namesi
Name:MTHFSD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103248.18
HGNCiHGNC:25778 MTHFSD
neXtProtiNX_Q2M296

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

DisGeNETi64779
OpenTargetsiENSG00000103248
PharmGKBiPA144596408

Polymorphism and mutation databases

BioMutaiMTHFSD
DMDMi209572652

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002958711 – 383Methenyltetrahydrofolate synthase domain-containing proteinAdd BLAST383

Proteomic databases

EPDiQ2M296
MaxQBiQ2M296
PaxDbiQ2M296
PeptideAtlasiQ2M296
PRIDEiQ2M296
ProteomicsDBi61347
61348 [Q2M296-2]

PTM databases

iPTMnetiQ2M296
PhosphoSitePlusiQ2M296

Expressioni

Gene expression databases

BgeeiENSG00000103248
CleanExiHS_MTHFSD
ExpressionAtlasiQ2M296 baseline and differential
GenevisibleiQ2M296 HS

Organism-specific databases

HPAiHPA041333

Interactioni

Protein-protein interaction databases

BioGridi122289, 10 interactors
IntActiQ2M296, 3 interactors
STRINGi9606.ENSP00000354152

Structurei

Secondary structure

1383
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi300 – 302Combined sources3
Beta strandi307 – 311Combined sources5
Helixi319 – 328Combined sources10
Beta strandi334 – 339Combined sources6
Turni340 – 343Combined sources4
Beta strandi344 – 348Combined sources5
Helixi352 – 362Combined sources11
Beta strandi367 – 370Combined sources4
Beta strandi373 – 376Combined sources4

3D structure databases

ProteinModelPortaliQ2M296
SMRiQ2M296
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ2M296

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini306 – 379RRMPROSITE-ProRule annotationAdd BLAST74

Phylogenomic databases

eggNOGiKOG4410 Eukaryota
COG0212 LUCA
GeneTreeiENSGT00390000011730
HOGENOMiHOG000222847
HOVERGENiHBG106591
InParanoidiQ2M296
OMAiDYMESQN
OrthoDBiEOG091G0AXE
PhylomeDBiQ2M296
TreeFamiTF324742

Family and domain databases

CDDicd12270 RRM_MTHFSD, 1 hit
Gene3Di3.30.70.330, 1 hit
3.40.50.10420, 1 hit
InterProiView protein in InterPro
IPR002698 FTHF_cligase
IPR024185 FTHF_cligase-like_sf
IPR034359 MTHFSD_RRM
IPR037171 NagB/RpiA_transferase-like
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF01812 5-FTHF_cyc-lig, 1 hit
PF00076 RRM_1, 1 hit
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit
SSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q2M296-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPRAVGVSK QDIREQIWGY MESQNLADFP RPVHHRIPNF KGSYLACQNI
60 70 80 90 100
KDLDVFARTQ EVKVDPDKPL EGVRLLVLQS KKTLLVPTPR LRTGLFNKIT
110 120 130 140 150
PPPGATKDIL RKCATSQGVR NYSVPIGLDS RVLVDLVVVG SVAVSEKGWR
160 170 180 190 200
IGKGEGYADL EYAMMVSMGA VSKETPVVTI VHDCQVVDIP EELVEEHDIT
210 220 230 240 250
VDYILTPTRV IATGCKRPKP MGITWFKISL EMMEKIPILR SLRAREQQAG
260 270 280 290 300
KDVTLQGEHQ HLPEPGCQQT VPLSVGRRPP DTPGPETNSM EAAPGSPPGE
310 320 330 340 350
GAPLAADVYV GNLPGDARVS DLKRALRELG SVPLRLTWQG PRRRAFLHYP
360 370 380
DSAAAQQAVS CLQGLRLGTD TLRVALARQQ RDK
Length:383
Mass (Da):42,173
Last modified:October 14, 2008 - v2
Checksum:iA241F4424AB9679F
GO
Isoform 2 (identifier: Q2M296-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     6-6: Missing.

Show »
Length:382
Mass (Da):42,074
Checksum:i7B0C8EAACCF47880
GO
Isoform 3 (identifier: Q2M296-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-79: SYLACQNIKDLDVFARTQEVKVDPDKPLEGVRLLVLQ → ASHAAEQLPRLQAFKTARTIKVNPDAPQKSARFFVLE

Show »
Length:383
Mass (Da):42,096
Checksum:i2B42B2D381175A45
GO
Isoform 4 (identifier: Q2M296-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     6-6: Missing.
     43-79: SYLACQNIKDLDVFARTQEVKVDPDKPLEGVRLLVLQ → ASHAAEQLPRLQAFKTARTIKVNPDAPQKSARFFVLE

Show »
Length:382
Mass (Da):41,996
Checksum:iF20FC83B075A455A
GO

Sequence cautioni

The sequence BAB14383 differs from that shown. Reason: Frameshift at position 356.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti59T → A in BAB14383 (PubMed:14702039).Curated1
Sequence conflicti144V → A in BAB14383 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03337345L → V. Corresponds to variant dbSNP:rs34005514Ensembl.1
Natural variantiVAR_068902243R → C1 PublicationCorresponds to variant dbSNP:rs3751800Ensembl.1
Natural variantiVAR_068903244A → T1 PublicationCorresponds to variant dbSNP:rs3751801Ensembl.1
Natural variantiVAR_033374296S → C. Corresponds to variant dbSNP:rs3751802Ensembl.1
Natural variantiVAR_033375315G → R3 PublicationsCorresponds to variant dbSNP:rs3751803Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0271156Missing in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_04449243 – 79SYLAC…LLVLQ → ASHAAEQLPRLQAFKTARTI KVNPDAPQKSARFFVLE in isoform 3 and isoform 4. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023060 mRNA Translation: BAB14383.1 Frameshift.
AK023955 mRNA Translation: BAB14739.1
AC009108 Genomic DNA No translation available.
CH471114 Genomic DNA Translation: EAW95418.1
CH471114 Genomic DNA Translation: EAW95419.1
BC112057 mRNA Translation: AAI12058.1
BC112059 mRNA Translation: AAI12060.1
BC143702 mRNA Translation: AAI43703.1
BC143707 mRNA Translation: AAI43708.1
CCDSiCCDS42211.1 [Q2M296-2]
CCDS54047.1 [Q2M296-1]
CCDS54048.1 [Q2M296-3]
CCDS58490.1 [Q2M296-4]
RefSeqiNP_001152849.1, NM_001159377.1 [Q2M296-1]
NP_001152850.1, NM_001159378.1 [Q2M296-3]
NP_073601.2, NM_022764.2 [Q2M296-2]
UniGeneiHs.343627

Genome annotation databases

EnsembliENST00000360900; ENSP00000354152; ENSG00000103248 [Q2M296-1]
ENST00000381214; ENSP00000370612; ENSG00000103248 [Q2M296-3]
ENST00000543303; ENSP00000444003; ENSG00000103248 [Q2M296-4]
ENST00000634347; ENSP00000489295; ENSG00000103248 [Q2M296-2]
GeneIDi64779
KEGGihsa:64779
UCSCiuc002fjn.4 human [Q2M296-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMTHSD_HUMAN
AccessioniPrimary (citable) accession number: Q2M296
Secondary accession number(s): A8MQ77
, B7ZLC0, B7ZLC2, D3DUM9, E9PAM1, Q9H878, Q9H954
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: October 14, 2008
Last modified: June 20, 2018
This is version 115 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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