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Protein

Methenyltetrahydrofolate synthase domain-containing protein

Gene

MTHFSD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • nucleotide binding Source: InterPro
  • poly(A) RNA binding Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

RNA-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

HGNCiHGNC:25778. MTHFSD.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA144596408.

Polymorphism and mutation databases

BioMutaiMTHFSD.
DMDMi209572652.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 383383Methenyltetrahydrofolate synthase domain-containing proteinPRO_0000295871Add
BLAST

Proteomic databases

EPDiQ2M296.
MaxQBiQ2M296.
PaxDbiQ2M296.
PeptideAtlasiQ2M296.
PRIDEiQ2M296.

PTM databases

iPTMnetiQ2M296.
PhosphoSiteiQ2M296.

Expressioni

Gene expression databases

BgeeiENSG00000103248.
CleanExiHS_MTHFSD.
ExpressionAtlasiQ2M296. baseline and differential.
GenevisibleiQ2M296. HS.

Organism-specific databases

HPAiHPA041333.

Interactioni

Protein-protein interaction databases

BioGridi122289. 9 interactions.
IntActiQ2M296. 3 interactions.
STRINGi9606.ENSP00000354152.

Structurei

Secondary structure

1
383
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi300 – 3023Combined sources
Beta strandi307 – 3115Combined sources
Helixi319 – 32810Combined sources
Beta strandi334 – 3396Combined sources
Turni340 – 3434Combined sources
Beta strandi344 – 3485Combined sources
Helixi352 – 36211Combined sources
Beta strandi367 – 3704Combined sources
Beta strandi373 – 3764Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E5JNMR-A294-383[»]
ProteinModelPortaliQ2M296.
SMRiQ2M296. Positions 300-383.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ2M296.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini306 – 37974RRMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4410. Eukaryota.
COG0212. LUCA.
GeneTreeiENSGT00390000011730.
HOGENOMiHOG000222847.
HOVERGENiHBG106591.
InParanoidiQ2M296.
OMAiWSKISCE.
OrthoDBiEOG091G0AXE.
PhylomeDBiQ2M296.
TreeFamiTF324742.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
3.40.50.10420. 1 hit.
InterProiIPR002698. FTHF_cligase.
IPR024185. FTHF_cligase-like.
IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF01812. 5-FTHF_cyc-lig. 1 hit.
PF00076. RRM_1. 1 hit.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50102. RRM. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti59 – 591T → A in BAB14383 (PubMed:14702039).Curated
Sequence conflicti144 – 1441V → A in BAB14383 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451L → V.
Corresponds to variant rs34005514 [ dbSNP | Ensembl ].
VAR_033373
Natural varianti243 – 2431R → C.1 Publication
Corresponds to variant rs3751800 [ dbSNP | Ensembl ].
VAR_068902
Natural varianti244 – 2441A → T.1 Publication
Corresponds to variant rs3751801 [ dbSNP | Ensembl ].
VAR_068903
Natural varianti296 – 2961S → C.
Corresponds to variant rs3751802 [ dbSNP | Ensembl ].
VAR_033374
Natural varianti315 – 3151G → R.3 Publications
Corresponds to variant rs3751803 [ dbSNP | Ensembl ].
VAR_033375

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei6 – 61Missing in isoform 2 and isoform 4. 2 PublicationsVSP_027115
Alternative sequencei43 – 7937SYLAC…LLVLQ → ASHAAEQLPRLQAFKTARTI KVNPDAPQKSARFFVLE in isoform 3 and isoform 4. 1 PublicationVSP_044492Add
BLAST

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.
CCDSiCCDS54047.1. [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

Cross-referencesi

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.
CCDSiCCDS54047.1. [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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2E5JNMR-A294-383[»]
ProteinModelPortaliQ2M296.
SMRiQ2M296. Positions 300-383.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122289. 9 interactions.
IntActiQ2M296. 3 interactions.
STRINGi9606.ENSP00000354152.

PTM databases

iPTMnetiQ2M296.
PhosphoSiteiQ2M296.

Polymorphism and mutation databases

BioMutaiMTHFSD.
DMDMi209572652.

Proteomic databases

EPDiQ2M296.
MaxQBiQ2M296.
PaxDbiQ2M296.
PeptideAtlasiQ2M296.
PRIDEiQ2M296.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi64779.
GeneCardsiMTHFSD.
HGNCiHGNC:25778. MTHFSD.
HPAiHPA041333.
neXtProtiNX_Q2M296.
PharmGKBiPA144596408.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4410. Eukaryota.
COG0212. LUCA.
GeneTreeiENSGT00390000011730.
HOGENOMiHOG000222847.
HOVERGENiHBG106591.
InParanoidiQ2M296.
OMAiWSKISCE.
OrthoDBiEOG091G0AXE.
PhylomeDBiQ2M296.
TreeFamiTF324742.

Miscellaneous databases

EvolutionaryTraceiQ2M296.
GenomeRNAii64779.
PROiQ2M296.

Gene expression databases

BgeeiENSG00000103248.
CleanExiHS_MTHFSD.
ExpressionAtlasiQ2M296. baseline and differential.
GenevisibleiQ2M296. HS.

Family and domain databases

Gene3Di3.30.70.330. 1 hit.
3.40.50.10420. 1 hit.
InterProiIPR002698. FTHF_cligase.
IPR024185. FTHF_cligase-like.
IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamiPF01812. 5-FTHF_cyc-lig. 1 hit.
PF00076. RRM_1. 1 hit.
[Graphical view]
SMARTiSM00360. RRM. 1 hit.
[Graphical view]
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiPS50102. RRM. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTHSD_HUMAN
AccessioniPrimary (citable) accession number: Q2M296
Secondary accession number(s): A8MQ77
, B7ZLC0, B7ZLC2, D3DUM9, E9PAM1, Q9H878, Q9H954
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: October 14, 2008
Last modified: September 7, 2016
This is version 102 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.