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Q9H3L0

- MMAD_HUMAN

UniProt

Q9H3L0 - MMAD_HUMAN

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Protein

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Gene
MMADHC, C2orf25, CL25022, HSPC161, My011
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in cobalamin metabolism.1 Publication

GO - Biological processi

  1. cobalamin metabolic process Source: Reactome
  2. small molecule metabolic process Source: Reactome
  3. vitamin metabolic process Source: Reactome
  4. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
REACT_169256. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.

Names & Taxonomyi

Protein namesi
Recommended name:
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Gene namesi
Name:MMADHC
Synonyms:C2orf25, CL25022
ORF Names:HSPC161, My011
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:25221. MMADHC.

Subcellular locationi

Cytoplasm. Mitochondrion 1 Publication

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081S → SLAEPLS in MMAHCD; cblD variant 2.
VAR_043843
Natural varianti182 – 1821T → N in MMAHCD; cblD variant 1. 1 Publication
VAR_043844
Natural varianti204 – 23229Missing in MMAHCD; cblD original.
VAR_043845Add
BLAST
Natural varianti249 – 2491Y → C in MMAHCD; cblD variant 1. 1 Publication
VAR_043846
Natural varianti259 – 2591L → P in MMAHCD; cblD variant 1. 1 Publication
VAR_043847

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi277410. phenotype.
Orphaneti308380. Methylcobalamin deficiency type cblDv1.
79283. Methylmalonic acidemia with homocystinuria, type cblD.
308442. Vitamin B12-responsive methylmalonic acidemia, type cblDv2.
PharmGKBiPA164723053.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3838Mitochondrion Reviewed predictionAdd
BLAST
Chaini39 – 296258Methylmalonic aciduria and homocystinuria type D protein, mitochondrialPRO_0000019534Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei203 – 2031N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9H3L0.
PaxDbiQ9H3L0.
PRIDEiQ9H3L0.

PTM databases

PhosphoSiteiQ9H3L0.

Expressioni

Tissue specificityi

Widely expressed at high levels.1 Publication

Gene expression databases

ArrayExpressiQ9H3L0.
BgeeiQ9H3L0.
GenevestigatoriQ9H3L0.

Organism-specific databases

HPAiHPA037531.

Interactioni

Protein-protein interaction databases

BioGridi118097. 2 interactions.
STRINGi9606.ENSP00000301920.

Structurei

3D structure databases

ProteinModelPortaliQ9H3L0.

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG276245.
HOGENOMiHOG000231797.
InParanoidiQ9H3L0.
OrthoDBiEOG7RBZ9D.
PhylomeDBiQ9H3L0.
TreeFamiTF314208.

Family and domain databases

InterProiIPR019362. MMADHC.
[Graphical view]
PANTHERiPTHR13192. PTHR13192. 1 hit.
PfamiPF10229. DUF2246. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9H3L0-1 [UniParc]FASTAAdd to Basket

« Hide

MANVLCNRAR LVSYLPGFCS LVKRVVNPKA FSTAGSSGSD ESHVAAAPPD    50
ICSRTVWPDE TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSLVHKTLP 100
DVLAEPLSSE RHEFVMAQYV NEFQGNDAPV EQEINSAETY FESARVECAI 150
QTCPELLRKD FESLFPEVAN GKLMILTVTQ KTKNDMTVWS EEVEIEREVL 200
LEKFINGAKE ICYALRAEGY WADFIDPSSG LAFFGPYTNN TLFETDERYR 250
HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATPDSHIM KKLSGN 296
Length:296
Mass (Da):32,940
Last modified:July 5, 2005 - v2
Checksum:i749C2A91D7E6C95D
GO

Sequence cautioni

The sequence AAG43124.1 differs from that shown. Reason: Frameshift at positions 171, 178, 185, 188 and 200.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti108 – 1081S → SLAEPLS in MMAHCD; cblD variant 2.
VAR_043843
Natural varianti182 – 1821T → N in MMAHCD; cblD variant 1. 1 Publication
VAR_043844
Natural varianti204 – 23229Missing in MMAHCD; cblD original.
VAR_043845Add
BLAST
Natural varianti249 – 2491Y → C in MMAHCD; cblD variant 1. 1 Publication
VAR_043846
Natural varianti259 – 2591L → P in MMAHCD; cblD variant 1. 1 Publication
VAR_043847

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti204 – 2041F → S in AAG43124. 1 Publication
Sequence conflicti211 – 2111I → N in AAG43124. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF060224 mRNA. Translation: AAG43124.1. Frameshift.
AF131802 mRNA. Translation: AAD20048.1.
AF161510 mRNA. Translation: AAF29125.1.
AK313284 mRNA. Translation: BAG36092.1.
AC110782 Genomic DNA. Translation: AAY14891.1.
CH471058 Genomic DNA. Translation: EAX11533.1.
CH471058 Genomic DNA. Translation: EAX11534.1.
CH471058 Genomic DNA. Translation: EAX11535.1.
CH471058 Genomic DNA. Translation: EAX11537.1.
BC000932 mRNA. Translation: AAH00932.1.
BC010894 mRNA. Translation: AAH10894.1.
BC022859 mRNA. Translation: AAH22859.1.
BC023995 mRNA. Translation: AAH23995.1.
CCDSiCCDS2189.1.
RefSeqiNP_056517.1. NM_015702.2.
UniGeneiHs.5324.

Genome annotation databases

EnsembliENST00000303319; ENSP00000301920; ENSG00000168288.
ENST00000428879; ENSP00000389060; ENSG00000168288.
GeneIDi27249.
KEGGihsa:27249.
UCSCiuc002txc.3. human.

Polymorphism databases

DMDMi68565296.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF060224 mRNA. Translation: AAG43124.1 . Frameshift.
AF131802 mRNA. Translation: AAD20048.1 .
AF161510 mRNA. Translation: AAF29125.1 .
AK313284 mRNA. Translation: BAG36092.1 .
AC110782 Genomic DNA. Translation: AAY14891.1 .
CH471058 Genomic DNA. Translation: EAX11533.1 .
CH471058 Genomic DNA. Translation: EAX11534.1 .
CH471058 Genomic DNA. Translation: EAX11535.1 .
CH471058 Genomic DNA. Translation: EAX11537.1 .
BC000932 mRNA. Translation: AAH00932.1 .
BC010894 mRNA. Translation: AAH10894.1 .
BC022859 mRNA. Translation: AAH22859.1 .
BC023995 mRNA. Translation: AAH23995.1 .
CCDSi CCDS2189.1.
RefSeqi NP_056517.1. NM_015702.2.
UniGenei Hs.5324.

3D structure databases

ProteinModelPortali Q9H3L0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118097. 2 interactions.
STRINGi 9606.ENSP00000301920.

PTM databases

PhosphoSitei Q9H3L0.

Polymorphism databases

DMDMi 68565296.

Proteomic databases

MaxQBi Q9H3L0.
PaxDbi Q9H3L0.
PRIDEi Q9H3L0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303319 ; ENSP00000301920 ; ENSG00000168288 .
ENST00000428879 ; ENSP00000389060 ; ENSG00000168288 .
GeneIDi 27249.
KEGGi hsa:27249.
UCSCi uc002txc.3. human.

Organism-specific databases

CTDi 27249.
GeneCardsi GC02M150426.
GeneReviewsi MMADHC.
HGNCi HGNC:25221. MMADHC.
HPAi HPA037531.
MIMi 277410. phenotype.
611935. gene.
neXtProti NX_Q9H3L0.
Orphaneti 308380. Methylcobalamin deficiency type cblDv1.
79283. Methylmalonic acidemia with homocystinuria, type cblD.
308442. Vitamin B12-responsive methylmalonic acidemia, type cblDv2.
PharmGKBi PA164723053.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG276245.
HOGENOMi HOG000231797.
InParanoidi Q9H3L0.
OrthoDBi EOG7RBZ9D.
PhylomeDBi Q9H3L0.
TreeFami TF314208.

Enzyme and pathway databases

Reactomei REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
REACT_169256. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.

Miscellaneous databases

GeneWikii MMADHC.
GenomeRNAii 27249.
NextBioi 50175.
PROi Q9H3L0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H3L0.
Bgeei Q9H3L0.
Genevestigatori Q9H3L0.

Family and domain databases

InterProi IPR019362. MMADHC.
[Graphical view ]
PANTHERi PTHR13192. PTHR13192. 1 hit.
Pfami PF10229. DUF2246. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Mao Y.M., Xie Y., Zheng Z.H., Gu S.H., Ying K., Lin Q., Dai J.L., Tang R., Dong H., Wu X.Z.
    Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal brain.
  2. Mei G., Yu W., Gibbs R.A.
    Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Umbilical cord blood.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skeletal muscle.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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: Brain, Kidney, Placenta and Skeletal muscle.
  8. Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS MMAHCD LEU-ALA-GLU-PRO-LEU-SER-108 INS; ASN-182; 204-PHE--ALA-232 DEL; CYS-249 AND PRO-259.
  9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-203, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism."
    Mah W., Deme J.C., Watkins D., Fung S., Janer A., Shoubridge E.A., Rosenblatt D.S., Coulton J.W.
    Mol. Genet. Metab. 108:112-118(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.

Entry informationi

Entry nameiMMAD_HUMAN
AccessioniPrimary (citable) accession number: Q9H3L0
Secondary accession number(s): B2R895, D3DP91, O95891
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: September 3, 2014
This is version 91 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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