MAN2A1

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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

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

Aminokiselinska sekvenca[uredi | uredi izvor]

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 | uredi izvor]

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 | uredi izvor]

  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 | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]