| Identification |
|---|
| HMDB Protein ID
| CDBP04734 |
| Secondary Accession Numbers
| Not Available |
| Name
| Methylmalonic aciduria and homocystinuria type C protein |
| Description
| Not Available |
| Synonyms
|
Not Available
|
| Gene Name
| MMACHC |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in cobalamin binding |
| Specific Function
| May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12) |
| GO Classification
|
Not Available
|
| Cellular Location
|
Not Available
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 1p34.1 |
| SNPs
| MMACHC |
| Gene Sequence
|
>849 bp
ATGGAGCCGAAAGTCGCAGAGCTGAAGCAGAAGATCGAGGACACGCTATGTCCTTTTGGC
TTCGAGGTTTACCCCTTCCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCAC
CTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGAC
CGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGAC
CAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGAGCCTCCCAGAGCTGCAGATAGGA
ATCATTGCTGACTACGAGGTACACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCA
GCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGG
GGGAACCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATC
CGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCAT
GACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGG
CGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAG
GCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCA
GAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCT
GGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCT
GGCCCTTGA
|
| Protein Properties |
|---|
| Number of Residues
| 282 |
| Molecular Weight
| 31728.1 |
| Theoretical pI
| 7.92 |
| Pfam Domain Function
|
Not Available |
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Methylmalonic aciduria and homocystinuria type C protein
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP
|
| External Links |
|---|
| GenBank ID Protein
| 52545527 |
| UniProtKB/Swiss-Prot ID
| Q9Y4U1 |
| UniProtKB/Swiss-Prot Entry Name
| MMAC_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AL080062 |
| GeneCard ID
| MMACHC |
| GenAtlas ID
| MMACHC |
| HGNC ID
| HGNC:24525 |
| References |
|---|
| General References
| Not Available |