Seroatlas · Human Serome Atlas

MANBA

Beta-mannosidase

Also known as: MANBA_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O00462
Gene: MANBA
Ensembl: ENSG00000109323
Chromosome: 4
Canonical length: 879 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

879 residues, UniProt reviewed canonical sequence.

>O00462|MANBA
     1  MRLHLLLLLA LCGAGTTAAE LSYSLRGNWS ICNGNGSLEL PGAVPGCVHS ALFQQGLIQD
    61  SYYRFNDLNY RWVSLDNWTY SKEFKIPFEI SKWQKVNLIL EGVDTVSKIL FNEVTIGETD
   121  NMFNRYSFDI TNVVRDVNSI ELRFQSAVLY AAQQSKAHTR YQVPPDCPPL VQKGECHVNF
   181  VRKEQCSFSW DWGPSFPTQG IWKDVRIEAY NICHLNYFTF SPIYDKSAQE WNLEIESTFD
   241  VVSSKPVGGQ VIVAIPKLQT QQTYSIELQP GKRIVELFVN ISKNITVETW WPHGHGNQTG
   301  YNMTVLFELD GGLNIEKSAK VYFRTVELIE EPIKGSPGLS FYFKINGFPI FLKGSNWIPA
   361  DSFQDRVTSE LLRLLLQSVV DANMNTLRVW GGGIYEQDEF YELCDELGIM VWQDFMFACA
   421  LYPTDQGFLD SVTAEVAYQI KRLKSHPSII IWSGNNENEE ALMMNWYHIS FTDRPIYIKD
   481  YVTLYVKNIR ELVLAGDKSR PFITSSPTNG AETVAEAWVS QNPNSNYFGD VHFYDYISDC
   541  WNWKVFPKAR FASEYGYQSW PSFSTLEKVS STEDWSFNSK FSLHRQHHEG GNKQMLYQAG
   601  LHFKLPQSTD PLRTFKDTIY LTQVMQAQCV KTETEFYRRS RSEIVDQQGH TMGALYWQLN
   661  DIWQAPSWAS LEYGGKWKML HYFAQNFFAP LLPVGFENEN TFYIYGVSDL HSDYSMTLSV
   721  RVHTWSSLEP VCSRVTERFV MKGGEAVCLY EEPVSELLRR CGNCTRESCV VSFYLSADHE
   781  LLSPTNYHFL SSPKEAVGLC KAQITAIISQ QGDIFVFDLE TSAVAPFVWL DVGSIPGRFS
   841  DNGFLMTEKT RTILFYPWEP TSKNELEQSF HVTSLTDIY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MANBA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.2
Highest tissue expression: 9.3 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 9.3 nTPM
pancreas: 9 nTPM
stomach: 7.5 nTPM
bone marrow: 6.6 nTPM
heart muscle: 5.3 nTPM
kidney: 5.1 nTPM

Single-cell type

neutrophils: 712 nCPM
neutrophil progenitors: 570 nCPM
monocytes: 537 nCPM
microglia: 414 nCPM
macrophages: 398 nCPM
cdc: 298 nCPM

Immune cell

eosinophil: 17 nTPM
non-classical monocyte: 9.1 nTPM
classical monocyte: 6.8 nTPM
intermediate monocyte: 6.1 nTPM
neutrophil: 6.1 nTPM
myeloid DC: 5.3 nTPM

Brain region

cerebellum: 16 nTPM
pons: 16 nTPM
thalamus: 14 nTPM
medulla oblongata: 14 nTPM
white matter: 14 nTPM
midbrain: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MANBA.

Disease | AllUniProt

Conditions MANBA is implicated in, by any mechanism.

Mannosidosis, beta A, lysosomal (MANSB) MIM:248510

Disease | GeneticClinVar

110 pathogenic / likely-pathogenic of 880 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Beta-D-mannosidosis
MANBA-related disorder
Hearing impairment
Gastric cancer
Ovarian serous cystadenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.97
gnomAD pLI: 0
gnomAD missense Z: 0.05
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

beta-mannosidase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Glycoside hydrolase family 2, catalytic domain
Galactose-binding-like domain superfamily
Immunoglobulin-like fold
Glycoside hydrolase superfamily
Beta-Galactosidase/glucuronidase domain superfamily
Glycosyl hydrolases family 2, TIM barrel domain
Mannosidase Ig/CBM-like domain
Beta-mannosidase, Ig-fold domain
Beta-mannosidase glycosyl hydrolases
Beta-mannosidase-like, galactose-binding domain-like
Ig-fold domain
Mannosidase Ig/CBM-like domain
Glycosyl hydrolase 2 galactose-binding domain-like

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MANBA as an antibody target. Whether an autoantibody or antibody against MANBA could matter depends on whether native MANBA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MANBA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MANBA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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