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Protein

Methylmalonic aciduria and homocystinuria type C protein homolog

Gene

Mmachc

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).By similarity

Pathwayi

GO - Molecular functioni

  1. cobalamin binding Source: UniProtKB-KW

GO - Biological processi

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

Keywords - Ligandi

Cobalamin, Cobalt

Enzyme and pathway databases

ReactomeiREACT_294704. Cobalamin (Cbl, vitamin B12) transport and metabolism.
REACT_325247. Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC.
REACT_346526. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.
UniPathwayiUPA00148.

Names & Taxonomyi

Protein namesi
Recommended name:
Methylmalonic aciduria and homocystinuria type C protein homolog
Gene namesi
Name:Mmachc
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589 Componenti: Chromosome 4

Organism-specific databases

MGIiMGI:1914346. Mmachc.

Subcellular locationi

  1. Cytoplasm By similarity

GO - Cellular componenti

  1. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 279279Methylmalonic aciduria and homocystinuria type C protein homologPRO_0000076259Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei247 – 2471PhosphoserineBy similarity
Modified residuei272 – 2721PhosphoserineBy similarity
Modified residuei276 – 2761PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiQ9CZD0.

PTM databases

PhosphoSiteiQ9CZD0.

Expressioni

Gene expression databases

BgeeiQ9CZD0.
GenevestigatoriQ9CZD0.

Structurei

3D structure databases

ProteinModelPortaliQ9CZD0.
SMRiQ9CZD0. Positions 2-238.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MMACHC family.Curated

Phylogenomic databases

eggNOGiNOG80998.
GeneTreeiENSGT00390000003464.
HOGENOMiHOG000231413.
HOVERGENiHBG080267.
InParanoidiQ9CZD0.
KOiK14618.
OMAiWYNELLP.
OrthoDBiEOG786H43.
PhylomeDBiQ9CZD0.
TreeFamiTF332476.

Sequencei

Sequence statusi: Complete.

Q9CZD0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEPRVAELKQ KIEDTLCPFG FEVYPFQVAW YNELLPPAFH LPFPGPTLAF
60 70 80 90 100
LVLSTPAMFD RALKPFLKSC HFQTLRDPVD QCVSYHLRSV TEKFPEVHME
110 120 130 140 150
VIADYEVHPN RRPKILAQTA AHVAGAAYYY QRQDVDADPW GTQHIAGVCI
160 170 180 190 200
HPRFGGWFAI RGVMLLPGIE VPNLPPRKPP DCVPTRAGRI TLLEGFNFHW
210 220 230 240 250
RDWTYRDAVT PEERYSEEQK IYFSTPPAQR LALLGLAQPS EHPSTTSELP
260 270
LSLLTKPQNS RRARSWLSPS VSPPVSPGP
Length:279
Mass (Da):31,648
Last modified:January 10, 2006 - v2
Checksum:i178FAEB388691B09
GO

Sequence cautioni

The sequence AAH54756.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB25214.1 differs from that shown. Reason: Frameshift at position 13. Curated
The sequence BAC39135.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141D → G in BAB28451 (PubMed:16141072).Curated
Sequence conflicti239 – 2391P → H in BAB28451 (PubMed:16141072).Curated
Sequence conflicti256 – 2561K → T in BAB28451 (PubMed:16141072).Curated
Sequence conflicti260 – 2601S → Y in BAB28451 (PubMed:16141072).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK007725 mRNA. Translation: BAB25214.1. Frameshift.
AK012761 mRNA. Translation: BAB28451.1.
AK084194 mRNA. Translation: BAC39135.1. Different initiation.
BC054756 mRNA. Translation: AAH54756.1. Different initiation.
CCDSiCCDS51278.1.
RefSeqiNP_080238.2. NM_025962.3.
UniGeneiMm.252785.

Genome annotation databases

EnsembliENSMUST00000030453; ENSMUSP00000030453; ENSMUSG00000028690.
GeneIDi67096.
KEGGimmu:67096.
UCSCiuc008uhe.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK007725 mRNA. Translation: BAB25214.1. Frameshift.
AK012761 mRNA. Translation: BAB28451.1.
AK084194 mRNA. Translation: BAC39135.1. Different initiation.
BC054756 mRNA. Translation: AAH54756.1. Different initiation.
CCDSiCCDS51278.1.
RefSeqiNP_080238.2. NM_025962.3.
UniGeneiMm.252785.

3D structure databases

ProteinModelPortaliQ9CZD0.
SMRiQ9CZD0. Positions 2-238.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiQ9CZD0.

Proteomic databases

PRIDEiQ9CZD0.

Protocols and materials databases

DNASUi67096.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000030453; ENSMUSP00000030453; ENSMUSG00000028690.
GeneIDi67096.
KEGGimmu:67096.
UCSCiuc008uhe.1. mouse.

Organism-specific databases

CTDi25974.
MGIiMGI:1914346. Mmachc.

Phylogenomic databases

eggNOGiNOG80998.
GeneTreeiENSGT00390000003464.
HOGENOMiHOG000231413.
HOVERGENiHBG080267.
InParanoidiQ9CZD0.
KOiK14618.
OMAiWYNELLP.
OrthoDBiEOG786H43.
PhylomeDBiQ9CZD0.
TreeFamiTF332476.

Enzyme and pathway databases

UniPathwayiUPA00148.
ReactomeiREACT_294704. Cobalamin (Cbl, vitamin B12) transport and metabolism.
REACT_325247. Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC.
REACT_346526. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.

Miscellaneous databases

ChiTaRSiMmachc. mouse.
NextBioi323562.
PROiQ9CZD0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9CZD0.
GenevestigatoriQ9CZD0.

Family and domain databases

ProtoNetiSearch...

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: Brain and Pancreas.
  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].
    Strain: C57BL/6.
    Tissue: Brain.

Entry informationi

Entry nameiMMAC_MOUSE
AccessioniPrimary (citable) accession number: Q9CZD0
Secondary accession number(s): Q9D8S7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: April 1, 2015
This is version 84 of the entry and version 2 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

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 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.