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Entry version 125 (08 May 2019)
Sequence version 2 (05 Jul 2005)
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Protein

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Gene

MMADHC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • cobalamin metabolic process Source: UniProtKB
  • coenzyme biosynthetic process Source: UniProtKB

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000168288-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359473 Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Alternative name(s):
CblD3 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MMADHC
Synonyms:C2orf25, CL25022
ORF Names:HSPC161, My011
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25221 MMADHC

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611935 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H3L0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Methylmalonic aciduria and homocystinuria, cblD type (MAHCD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive 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).
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_043843108S → SLAEPLS in MAHCD; cblD variant 2. 1
Natural variantiVAR_043844182T → N in MAHCD; cblD variant 1; impairs interaction with MMACHC. 3 PublicationsCorresponds to variant dbSNP:rs118204045EnsemblClinVar.1
Natural variantiVAR_043845204 – 232Missing in MAHCD; cblD original. 1 PublicationAdd BLAST29
Natural variantiVAR_043846249Y → C in MAHCD; cblD variant 1. 1 PublicationCorresponds to variant dbSNP:rs118204046EnsemblClinVar.1
Natural variantiVAR_043847259L → P in MAHCD; cblD variant 1; decreases methylcobalamin levels and increases adenosylcobalamin levels; no effect on interaction with MMACHC. 3 PublicationsCorresponds to variant dbSNP:rs118204044EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi165F → A: Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. 1 Publication1
Mutagenesisi186M → A: Decreases methylcobalamin levels. No effect on interaction with MMACHC. 2 Publications1
Mutagenesisi189W → A: Decreases methylcobalamin levels. Impairs interaction with MMACHC. 2 Publications1
Mutagenesisi197R → A: Decreases methylcobalamin levels, but increases adenosylcobalamin levels. 1 Publication1
Mutagenesisi204F → A: Decreases methylcobalamin levels and mildly increases adenosylcobalamin levels. 1 Publication1
Mutagenesisi212C → A: No effect on cobalamin levels. 1 Publication1
Mutagenesisi226D → A: Decreases methylcobalamin levels, but increases adenosylcobalamin levels. No effect on interaction with MMACHC. 2 Publications1
Mutagenesisi237Y → A: Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. 1 Publication1
Mutagenesisi266R → A: Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. 1 Publication1
Mutagenesisi270W → A: Decreases methylcobalamin levels. 1 Publication1
Mutagenesisi278S → A: Marginally decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. 1 Publication1
Mutagenesisi280F → A: No effect on cobalamin levels. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
27249

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
MMADHC

MalaCards human disease database

More...
MalaCardsi
MMADHC
MIMi277410 phenotype

Open Targets

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OpenTargetsi
ENSG00000168288

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
308380 Methylcobalamin deficiency type cblDv1
79283 Methylmalonic acidemia with homocystinuria, type cblD
308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164723053

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MMADHC

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68565296

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 38MitochondrionSequence analysisAdd BLAST38
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001953439 – 296Methylmalonic aciduria and homocystinuria type D protein, mitochondrialAdd BLAST258

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei203N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H3L0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H3L0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H3L0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H3L0

PeptideAtlas

More...
PeptideAtlasi
Q9H3L0

PRoteomics IDEntifications database

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PRIDEi
Q9H3L0

ProteomicsDB human proteome resource

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ProteomicsDBi
80728

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H3L0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H3L0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed at high levels.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168288 Expressed in 231 organ(s), highest expression level in vastus lateralis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H3L0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H3L0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA037531
HPA037532

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with MMACHC.3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
118097, 23 interactors

Protein interaction database and analysis system

More...
IntActi
Q9H3L0, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000389060

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1296
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9H3L0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3994 Eukaryota
ENOG410XRBP LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015050

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231797

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9H3L0

Database of Orthologous Groups

More...
OrthoDBi
1363001at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H3L0

TreeFam database of animal gene trees

More...
TreeFami
TF314208

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019362 MMADHC

The PANTHER Classification System

More...
PANTHERi
PTHR13192 PTHR13192, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10229 MMADHC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9H3L0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MANVLCNRAR LVSYLPGFCS LVKRVVNPKA FSTAGSSGSD ESHVAAAPPD
60 70 80 90 100
ICSRTVWPDE TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSLVHKTLP
110 120 130 140 150
DVLAEPLSSE RHEFVMAQYV NEFQGNDAPV EQEINSAETY FESARVECAI
160 170 180 190 200
QTCPELLRKD FESLFPEVAN GKLMILTVTQ KTKNDMTVWS EEVEIEREVL
210 220 230 240 250
LEKFINGAKE ICYALRAEGY WADFIDPSSG LAFFGPYTNN TLFETDERYR
260 270 280 290
HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATPDSHIM KKLSGN
Length:296
Mass (Da):32,940
Last modified:July 5, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i749C2A91D7E6C95D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WEC0F8WEC0_HUMAN
Methylmalonic aciduria and homocyst...
MMADHC
330Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti204F → S in AAG43124 (Ref. 1) Curated1
Sequence conflicti211I → N in AAG43124 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043843108S → SLAEPLS in MAHCD; cblD variant 2. 1
Natural variantiVAR_043844182T → N in MAHCD; cblD variant 1; impairs interaction with MMACHC. 3 PublicationsCorresponds to variant dbSNP:rs118204045EnsemblClinVar.1
Natural variantiVAR_043845204 – 232Missing in MAHCD; cblD original. 1 PublicationAdd BLAST29
Natural variantiVAR_043846249Y → C in MAHCD; cblD variant 1. 1 PublicationCorresponds to variant dbSNP:rs118204046EnsemblClinVar.1
Natural variantiVAR_043847259L → P in MAHCD; cblD variant 1; decreases methylcobalamin levels and increases adenosylcobalamin levels; no effect on interaction with MMACHC. 3 PublicationsCorresponds to variant dbSNP:rs118204044EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2189.1

NCBI Reference Sequences

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RefSeqi
NP_056517.1, NM_015702.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000303319; ENSP00000301920; ENSG00000168288
ENST00000428879; ENSP00000389060; ENSG00000168288

Database of genes from NCBI RefSeq genomes

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GeneIDi
27249

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27249

UCSC genome browser

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UCSCi
uc002txc.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CUZX-ray2.31A108-296[»]
5CV0X-ray1.90A/B108-296[»]
SMRiQ9H3L0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118097, 23 interactors
IntActiQ9H3L0, 7 interactors
STRINGi9606.ENSP00000389060

PTM databases

iPTMnetiQ9H3L0
PhosphoSitePlusiQ9H3L0

Polymorphism and mutation databases

BioMutaiMMADHC
DMDMi68565296

Proteomic databases

EPDiQ9H3L0
jPOSTiQ9H3L0
MaxQBiQ9H3L0
PaxDbiQ9H3L0
PeptideAtlasiQ9H3L0
PRIDEiQ9H3L0
ProteomicsDBi80728

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303319; ENSP00000301920; ENSG00000168288
ENST00000428879; ENSP00000389060; ENSG00000168288
GeneIDi27249
KEGGihsa:27249
UCSCiuc002txc.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
27249
DisGeNETi27249

GeneCards: human genes, protein and diseases

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GeneCardsi
MMADHC
GeneReviewsiMMADHC
HGNCiHGNC:25221 MMADHC
HPAiHPA037531
HPA037532
MalaCardsiMMADHC
MIMi277410 phenotype
611935 gene
neXtProtiNX_Q9H3L0
OpenTargetsiENSG00000168288
Orphaneti308380 Methylcobalamin deficiency type cblDv1
79283 Methylmalonic acidemia with homocystinuria, type cblD
308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2
PharmGKBiPA164723053

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3994 Eukaryota
ENOG410XRBP LUCA
GeneTreeiENSGT00390000015050
HOGENOMiHOG000231797
InParanoidiQ9H3L0
OrthoDBi1363001at2759
PhylomeDBiQ9H3L0
TreeFamiTF314208

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000168288-MONOMER
ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359473 Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MMADHC human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MMADHC

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
27249

Protein Ontology

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PROi
PR:Q9H3L0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000168288 Expressed in 231 organ(s), highest expression level in vastus lateralis
ExpressionAtlasiQ9H3L0 baseline and differential
GenevisibleiQ9H3L0 HS

Family and domain databases

InterProiView protein in InterPro
IPR019362 MMADHC
PANTHERiPTHR13192 PTHR13192, 1 hit
PfamiView protein in Pfam
PF10229 MMADHC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMMAD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H3L0
Secondary accession number(s): B2R895, D3DP91, O95891
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: May 8, 2019
This is version 125 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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