MMAB

MMAB
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2IDX
Identifikatori
Aliasi	MMAB
Vanjski ID-jevi	OMIM: 607568 MGI: 1924947 HomoloGene: 12680 GeneCards: MMAB
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	109,573,580 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	114,582,121 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • nucleotide binding; • cob(I)yrinic acid a,c-diamide adenosyltransferase activity; • ATP binding; • GO:0001948, GO:0016582 vezivanje za proteine; • cobalamin binding;
Ćelijska komponenta	• mitochondrial matrix; • mitohondrija;
Biološki proces	• cobalamin metabolic process; • cobalamin biosynthetic process;
	Izvori:Amigo / QuickGO
Ortolozi
	326625
	77697
	ENSG00000139428
	ENSMUSG00000029575
	Q96EY8
	Q9D273
	NM_052845
	NM_029956; NM_001347398
	NP_443077
	NP_001334327; NP_084232
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mitohondrijska kob(I)rinskokiselinska a,c-diamid-adenoziltransferaza je enzim koji je kod ljudi kodiran genom MMAB.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 250 aminokiselina, a molekulska težina 27.388 Da.^[8].

10	20	30	40	50
MAVCGLGSRL	GLGSRLGLRG	CFGAARLLYP	RFQSRGPQGV	EDGDRPQPSS
KTPRIPKIYT	KTGDKGFSST	FTGERRPKDD	QVFEAVGTTD	ELSSAIGFAL
ELVTEKGHTF	AEELQKIQCT	LQDVGSALAT	PCSSAREAHL	KYTTFKAGPI
LELEQWIDKY	TSQLPPLTAF	ILPSGGKISS	ALHFCRAVCR	RAERRVVPLV
QMGETDANVA	KFLNRLSDYL	FTLARYAAMK	EGNQEKIYMK	NDPSAESEGL

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Funkcija

Ovaj gen kodira enzim kob(I)jirinatna kiselina a, c-diamid-adenoziltransferaza, koji katalizira posljednji korak u pretvaranju vitamina B₁₂ u adenozilkobalamin (AdoCbl), vitamina B₁₂ koji sadrži koenzim za metilmalonil-CoA mutazu.^[7]

Klinički značaj

Mutacije u genu su uzrok metilmalonske acidurije zbog zavisnog vezanja vitamina B₁₂ sa komplementarnom grupom cblB.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139428 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029575 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria". Hum Mol Genet. 11 (26): 3361–9. doi:10.1093/hmg/11.26.3361. PMID 12471062.
^ Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". J Biol Chem. 278 (11): 9227–34. doi:10.1074/jbc.M212739200. PMID 12514191.
^ ^a ^b ^c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".
^ "UniProt, Q96EY8". Pristupljeno 12. 8. 2021.

Dopunska literatura

Willer CJ, Sanna S, Jackson AU, et al. (2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nat. Genet. 40 (2): 161–9. doi:10.1038/ng.76. PMC 5206900. PMID 18193043.
Hörster F, Baumgartner MR, Viardot C, et al. (2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)". Pediatr. Res. 62 (2): 225–30. doi:10.1203/PDR.0b013e3180a0325f. PMID 17597648.
Keeratichamroen S, Cairns JR, Sawangareetrakul P, et al. (2007). "Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia". Biochem. Genet. 45 (5–6): 421–30. CiteSeerX 10.1.1.509.517. doi:10.1007/s10528-007-9085-y. PMID 17410422. S2CID 20799098.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Martínez MA, Rincón A, Desviat LR, et al. (2005). "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants". Mol. Genet. Metab. 84 (4): 317–25. doi:10.1016/j.ymgme.2004.11.011. PMID 15781192.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Leal NA, Olteanu H, Banerjee R, Bobik TA (2005). "Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase". J. Biol. Chem. 279 (46): 47536–42. doi:10.1074/jbc.M405449200. PMID 15347655.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.

Vanjski linkovi

GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia
PDBe-KB provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139428 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029575 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12471062-5] Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B₁₂-dependent methylmalonic aciduria". Hum Mol Genet. 11 (26): 3361–9. doi:10.1093/hmg/11.26.3361. PMID 12471062.

[pmid12514191-6] Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". J Biol Chem. 278 (11): 9227–34. doi:10.1074/jbc.M212739200. PMID 12514191.

[entrez-7] "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

[UniProt-8] "UniProt, Q96EY8". Pristupljeno 12. 8. 2021.

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