|
|
|
|
|
|
[1]
|
NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN LYSOSOMAL BETA-MANNOSIDASIS, AND VARIANT ILE-253.
DOI=10.1093/hmg/7.1.75; PubMed=9384606 [NCBI, ExPASy, EBI, Israel, Japan]
Alkhayat A.H.,
Kraemer S.A.,
Leipprandt J.R.,
Macek M.,
Kleijer W.J.,
Friderici K.H.;
"Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.";
Hum. Mol. Genet. 7:75-83(1998).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Chang H.-M.,
Tsai S.-F.;
"Genome sequencing of the chromosome 4q region implicated in human hepatocellular carcinoma pathogenesis.";
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
|
[3]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT MET-701.
TISSUE=Muscle;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
|
|
|
- FUNCTION: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.
- CATALYTIC ACTIVITY: Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.
- PATHWAY: Glycan metabolism; N-glycan degradation.
- SUBCELLULAR LOCATION: Lysosome.
- DISEASE: Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin.
- DISEASE: Defects in MANBA are the cause of lysosomal beta-mannosidosis [MIM:248510]. Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta-mannosidase activity in plasma, fibroblasts and leukocytes.
- SIMILARITY: Belongs to the glycosyl hydrolase 2 family [view classification].
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=MANBA";.
|
|
|
|
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| Length: 879 AA [This is the length of the unprocessed precursor] |
Molecular weight: 100895 Da [This is the MW of the unprocessed precursor] |
CRC64: FE8173A4276B722E [This is a checksum on the sequence] |
|
10 20 30 40 50 60
MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS ALFQQGLIQD
70 80 90 100 110 120
SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL EGVDTVSKIL FNEVTIGETD
130 140 150 160 170 180
NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY AAQQSKAHTR YQVPPDCPPL VQKGECHVNF
190 200 210 220 230 240
VRKEQCSFSW DWGPSFPTQG IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD
250 260 270 280 290 300
VVSSKPVGGQ VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG
310 320 330 340 350 360
YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI FLKGSNWIPA
370 380 390 400 410 420
DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF YELCDELGIM VWQDFMFACA
430 440 450 460 470 480
LYPTDQGFLD SVTAEVAYQI KRLKSHPSII IWSGNNENEE ALMMNWYHIS FTDRPIYIKD
490 500 510 520 530 540
YVTLYVKNIR ELVLAGDKSR PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC
550 560 570 580 590 600
WNWKVFPKAR FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG
610 620 630 640 650 660
LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH TMGALYWQLN
670 680 690 700 710 720
DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN TFYIYGVSDL HSDYSMTLSV
730 740 750 760 770 780
RVHTWSSLEP VCSRVTERFV MKGGEAVCLY EEPVSELLRR CGNCTRESCV VSFYLSADHE
790 800 810 820 830 840
LLSPTNYHFL SSPKEAVGLC KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS
850 860 870
DNGFLMTEKT RTILFYPWEP TSKNELEQSF HVTSLTDIY
|
O00462 in FASTA format |
|
ExPASy Home page
CBR Canada