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Q8C7H1

- MMAA_MOUSE

UniProt

Q8C7H1 - MMAA_MOUSE

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Protein

Methylmalonic aciduria type A homolog, mitochondrial

Gene

Mmaa

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis By similarity.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei289 – 2891GTPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi147 – 1559GTPBy similarity
Nucleotide bindingi325 – 3273GTPBy similarity

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW
  2. hydrolase activity Source: UniProtKB-KW

GO - Biological processi

  1. cobalamin biosynthetic process Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Hydrolase

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_189075. Defective MMAA causes methylmalonic aciduria type cblA.
REACT_189097. Defective MUT causes methylmalonic aciduria mut type.
REACT_189118. Cobalamin (Cbl, vitamin B12) transport and metabolism.
UniPathwayiUPA00148.

Names & Taxonomyi

Protein namesi
Recommended name:
Methylmalonic aciduria type A homolog, mitochondrial (EC:3.6.-.-)
Gene namesi
Name:Mmaa
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 8

Organism-specific databases

MGIiMGI:1923805. Mmaa.

Subcellular locationi

Mitochondrion By similarity

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 6262MitochondrionSequence AnalysisAdd
BLAST
Chaini63 – 415353Methylmalonic aciduria type A homolog, mitochondrialPRO_0000002286Add
BLAST

Proteomic databases

MaxQBiQ8C7H1.
PaxDbiQ8C7H1.
PRIDEiQ8C7H1.

PTM databases

PhosphoSiteiQ8C7H1.

Expressioni

Gene expression databases

BgeeiQ8C7H1.
GenevestigatoriQ8C7H1.

Interactioni

Subunit structurei

Homodimer.By similarity

Structurei

3D structure databases

ProteinModelPortaliQ8C7H1.
SMRiQ8C7H1. Positions 70-413.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ArgK family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1703.
GeneTreeiENSGT00390000009908.
HOGENOMiHOG000003902.
HOVERGENiHBG045588.
InParanoidiQ8C7H1.
KOiK07588.
OMAiWMLLSNG.
OrthoDBiEOG7BCNBZ.
PhylomeDBiQ8C7H1.
TreeFamiTF313243.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR005129. ArgK.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF03308. ArgK. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00750. lao. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8C7H1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MTISTLLLSP NRRLLTCLSR VPSPWLLHSS HPAPGPPGAL PNCFGHHCTK
60 70 80 90 100
RVLLSDGFRR TLCVQATLKD HTEGLSDKEQ RFVDRLYTGL VKGQRACLAE
110 120 130 140 150
AITLVESTHT RKRELAQVLL QRVLALQREQ ELRNQGKPLT FRVGLSGPPG
160 170 180 190 200
AGKSTFIECF GKMLTEQGHR LSVLAVDPSS CTSGGSLLGD KTRMIELSRD
210 220 230 240 250
MNAYIRPSPT SGTLGGVTRT TNEAIVLCEG GGYDIILIET VGVGQSEFAV
260 270 280 290 300
ADMVDMFVLL LPPAGGDELQ GIKRGIIEMA DLVVITKSDG DLIVPARRIQ
310 320 330 340 350
AEYVSALKLL RRRSEVWRPK VIRISARSGE GITEMWDTMR EFQHQMLASG
360 370 380 390 400
ELAAKRQTQH KVWMWNLIQE NVLEHFKTHP SIREQIPLME RKVLSGALSP
410
GRAADLLLKA FKSRH
Length:415
Mass (Da):45,932
Last modified:March 1, 2003 - v1
Checksum:iA46967424CC4CC06
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311H → P in AAH21954. (PubMed:15489334)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK050255 mRNA. Translation: BAC34149.1.
BC021954 mRNA. Translation: AAH21954.1.
BC027398 mRNA. Translation: AAH27398.1.
CCDSiCCDS22436.1.
RefSeqiNP_598584.2. NM_133823.4.
XP_006530625.1. XM_006530562.1.
XP_006530626.1. XM_006530563.1.
XP_006530627.1. XM_006530564.1.
UniGeneiMm.26510.

Genome annotation databases

EnsembliENSMUST00000048718; ENSMUSP00000048826; ENSMUSG00000037022.
GeneIDi109136.
KEGGimmu:109136.
UCSCiuc009mim.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK050255 mRNA. Translation: BAC34149.1 .
BC021954 mRNA. Translation: AAH21954.1 .
BC027398 mRNA. Translation: AAH27398.1 .
CCDSi CCDS22436.1.
RefSeqi NP_598584.2. NM_133823.4.
XP_006530625.1. XM_006530562.1.
XP_006530626.1. XM_006530563.1.
XP_006530627.1. XM_006530564.1.
UniGenei Mm.26510.

3D structure databases

ProteinModelPortali Q8C7H1.
SMRi Q8C7H1. Positions 70-413.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q8C7H1.

Proteomic databases

MaxQBi Q8C7H1.
PaxDbi Q8C7H1.
PRIDEi Q8C7H1.

Protocols and materials databases

DNASUi 109136.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000048718 ; ENSMUSP00000048826 ; ENSMUSG00000037022 .
GeneIDi 109136.
KEGGi mmu:109136.
UCSCi uc009mim.1. mouse.

Organism-specific databases

CTDi 166785.
MGIi MGI:1923805. Mmaa.

Phylogenomic databases

eggNOGi COG1703.
GeneTreei ENSGT00390000009908.
HOGENOMi HOG000003902.
HOVERGENi HBG045588.
InParanoidi Q8C7H1.
KOi K07588.
OMAi WMLLSNG.
OrthoDBi EOG7BCNBZ.
PhylomeDBi Q8C7H1.
TreeFami TF313243.

Enzyme and pathway databases

UniPathwayi UPA00148 .
Reactomei REACT_189075. Defective MMAA causes methylmalonic aciduria type cblA.
REACT_189097. Defective MUT causes methylmalonic aciduria mut type.
REACT_189118. Cobalamin (Cbl, vitamin B12) transport and metabolism.

Miscellaneous databases

NextBioi 361684.
PROi Q8C7H1.
SOURCEi Search...

Gene expression databases

Bgeei Q8C7H1.
Genevestigatori Q8C7H1.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR003593. AAA+_ATPase.
IPR005129. ArgK.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF03308. ArgK. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00750. lao. 1 hit.
ProtoNeti Search...

Publicationsi

  1. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Liver.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Liver and Mammary tumor.

Entry informationi

Entry nameiMMAA_MOUSE
AccessioniPrimary (citable) accession number: Q8C7H1
Secondary accession number(s): Q8R2N3, Q8VC22
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: March 1, 2003
Last modified: October 29, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3