Alfa-manozidaza 2 jest enzim koji je kod ljudi kodiran genom MAN2A1 sa hromosoma 5.[5][6][7]

MAN2A1
Identifikatori
AliasiMAN2A1
Vanjski ID-jeviOMIM: 154582 MGI: 104669 HomoloGene: 1777 GeneCards: MAN2A1
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za MAN2A1
Genomska lokacija za MAN2A1
Bend5q21.3Početak109,689,927 bp[1]
Kraj109,869,625 bp[1]
Lokacija gena (miš)
Hromosom 17 (miš)
Hrom.Hromosom 17 (miš)[2]
Hromosom 17 (miš)
Genomska lokacija za MAN2A1
Genomska lokacija za MAN2A1
Bend17|17 E1.1Početak64,907,731 bp[2]
Kraj65,062,105 bp[2]
Ontologija gena
Molekularna funkcija mannosidase activity
hydrolase activity, hydrolyzing N-glycosyl compounds
hydrolase activity, acting on glycosyl bonds
metal ion binding
catalytic activity
mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity
hydrolase activity
carbohydrate binding
alpha-mannosidase activity
Ćelijska komponenta integral component of membrane
Golđijev aparat
membrana
Golđijeva membrana
cis-Golgi network
Egzosom
Vanćelijsko
Golgi medial cisterna
Biološki proces N-glycan processing
mitochondrion organization
vacuole organization
in utero embryonic development
protein deglycosylation
respiratory gaseous exchange by respiratory system
positive regulation of neurogenesis
retina morphogenesis in camera-type eye
GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation
liver development
lung alveolus development
metabolizam
mannose metabolic process
carbohydrate metabolic process
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_002372

NM_008549

RefSeq (bjelančevina)

NP_002363

NP_032575

Lokacija (UCSC)Chr 5: 109.69 – 109.87 MbChr 17: 64.91 – 65.06 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 1.144 aminokiseline, а molekulska težina 131.141 Da.[8]

1020304050
MKLSRQFTVFGSAIFCVVIFSLYLMLDRGHLDYPRNPRREGSFPQGQLSM
LQEKIDHLERLLAENNEIISNIRDSVINLSESVEDGPKSSQSNFSQGAGS
HLLPSQLSLSVDTADCLFASQSGSHNSDVQMLDVYSLISFDNPDGGVWKQ
GFDITYESNEWDTEPLQVFVVPHSHNDPGWLKTFNDYFRDKTQYIFNNMV
LKLKEDSRRKFIWSEISYLSKWWDIIDIQKKDAVKSLIENGQLEIVTGGW
VMPDEATPHYFALIDQLIEGHQWLENNIGVKPRSGWAIDPFGHSPTMAYL
LNRAGLSHMLIQRVHYAVKKHFALHKTLEFFWRQNWDLGSVTDILCHMMP
FYSYDIPHTCGPDPKICCQFDFKRLPGGRFGCPWGVPPETIHPGNVQSRA
RMLLDQYRKKSKLFRTKVLLAPLGDDFRYCEYTEWDLQFKNYQQLFDYMN
SQSKFKVKIQFGTLSDFFDALDKADETQRDKGQSMFPVLSGDFFTYADRD
DHYWSGYFTSRPFYKRMDRIMESHLRAAEILYYFALRQAHKYKINKFLSS
SLYTALTEARRNLGLFQHHDAITGTAKDWVVVDYGTRLFHSLMVLEKIIG
NSAFLLILKDKLTYDSYSPDTFLEMDLKQKSQDSLPQKNIIRLSAEPRYL
VVYNPLEQDRISLVSVYVSSPTVQVFSASGKPVEVQVSAVWDTANTISET
AYEISFRAHIPPLGLKVYKILESASSNSHLADYVLYKNKVEDSGIFTIKN
MINTEEGITLENSFVLLRFDQTGLMKQMMTKEDGKHHEVNVQFSWYGTTI
KRDKSGAYLFLPDGNAKPYVYTTPPFVRVTHGRIYSEVTCFFDHVTHRVR
LYHIQGIEGQSVEVSNIVDIRKVYNREIAMKISSDIKSQNRFYTDLNGYQ
IQPRMTLSKLPLQANVYPMTTMAYIQDAKHRLTLLSAQSLGVSSLNSGQI
EVIMDRRLMQDDNRGLEQGIQDNKITANLFRILLEKRSAVNTEEEKKSVS
YPSLLSHITSSLMNHPVIPMANKFSSPTLELQGEFSPLQSSLPCDIHLVN
LRTIQSKVGNGHSNEAALILHRKGFDCRFSSKGTGLFCSTTQGKILVQKL
LNKFIVESLTPSSLSLMHSPPGTQNISEINLSPMEISTFRIQLR

Funkcija uredi

Ovaj gen kodira protein koji je član porodice 38 glikozil-hidrolaza. Protein se nalazi u Golgijevom aparatu i katalizira posljednji hidrolitski korak u asparagin-vezanoj oligosaharidnoj N-vezanoj glikozilaciji. Pokazalo se da mutacije u mišjem homologu ovog gena uzrokuju sistemsku autoimunsku bolest sličnu ljudskoj bolesti sistemski eritematozni lupus.[7]

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112893 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024085 - 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.
  5. ^ Moremen KW, Robbins PW (Dec 1991). "Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans". The Journal of Cell Biology. 115 (6): 1521–34. doi:10.1083/jcb.115.6.1521. PMC 2289207. PMID 1757461.
  6. ^ Oka T, Ungar D, Hughson FM, Krieger M (maj 2004). "The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins". Molecular Biology of the Cell. 15 (5): 2423–35. doi:10.1091/mbc.E03-09-0699. PMC 404034. PMID 15004235.
  7. ^ a b "Entrez Gene: MAN2A1 mannosidase, alpha, class 2A, member 1".
  8. ^ "UniProt, Q16706" (jezik: engleski). Pristupljeno 16. 10. 2021.

Dopunska literatura uredi

Vanjski linkovi uredi