Q8IU67 (Q8IU67_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Methylenetetrahydrofolate reductase Ensembl ENSP00000400460 Ensembl ENSP00000408307 Ensembl ENSP00000365669

Submitted name:
Methylenetetrahydrofolate reductase short isoform EMBL AAL17646.1

Gene names

Name:

MTHFR Ensembl ENSP00000400460 Ensembl ENSP00000408307 Ensembl ENSP00000365669

Organism

Homo sapiens (Human) [Reference proteome] EMBL AAL17646.1

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	30 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Keywords
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	methionine biosynthetic process Inferred from electronic annotation. Source: Compara
Molecular_function	methylenetetrahydrofolate reductase (NADPH) activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	30	1	Ensembl ENSP00000400460 Ensembl ENSP00000408307 Ensembl ENSP00000365669 EMBL AAL17646.1

Sequences

	Sequence		Length	Mass (Da)
	Q8IU67 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: AEB583C067807DE8	FASTA	30	2,988
	10 20 30 MVNEARGNSS LNPCLEGSAS SGSESSKDSS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms." Tran P., Leclerc D., Chan M., Pai A., Hiou-Tim F., Wu Q., Goyette P., Artigas C., Milos R., Rozen R. Mamm. Genome 13:483-492(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S., McLaren S., Milne S., Mistry S., Moore M.J., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R., Banerjee R., Bryant S.P., Burford D.C., Burrill W.D., Clegg S.M., Dhami P., Dovey O., Faulkner L.M., Gribble S.M., Langford C.F., Pandian R.D., Porter K.M., Prigmore E. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Ensembl Submitted (FEB-2012) to UniProtKB Cited for: IDENTIFICATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL953897 Genomic DNA. No translation available. AY046560 mRNA. Translation: AAL17646.1. AY046561 mRNA. Translation: AAL17647.1. AY046563 mRNA. Translation: AAL17649.1. AY046564 mRNA. Translation: AAL17650.1. AY046565 mRNA. Translation: AAL17651.1.
IPI	IPI00646654.
RefSeq	NP_005948.3. NM_005957.4.
UniGene	Hs.214142. Hs.737916.
3D structure databases
ModBase	Search...
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376486; ENSP00000365669; ENSG00000177000. ENST00000413656; ENSP00000408307; ENSG00000177000. ENST00000431243; ENSP00000400460; ENSG00000177000.
GeneID	4524.
KEGG	hsa:4524.
Organism-specific databases
CTD	4524.
HGNC	HGNC:7436. MTHFR.
PharmGKB	PA245.
GenAtlas	Search...
Phylogenomic databases
KO	K00297.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	MTHFR. human.
GenomeRNAi	4524.
NextBio	17474.

Entry information

Entry name

Q8IU67_HUMAN

Accession

Primary (citable) accession number: Q8IU67

Entry history

Integrated into UniProtKB/TrEMBL:	March 1, 2003
Last sequence update:	March 1, 2003
Last modified:	May 29, 2013
This is version 60 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any 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.