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MANBAL Gene

protein-coding   GIFtS: 43
GCID: GC20P035918

Mannosidase, Beta A, Lysosomal-Like

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mannosidase, Beta A, Lysosomal-Like1 2
Protein MANBAL2

External Ids:    HGNC: 157991   Entrez Gene: 639052   Ensembl: ENSG000001013637   UniProtKB: Q9NQG13   
ORGUL members:         

Export aliases for MANBAL gene to outside databases

Previous GC identifers: GC20P035653 GC20P036556 GC20P036603 GC20P035351 GC20P032653


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MANBAL Gene:
MANBAL (mannosidase, beta A, lysosomal-like) is a protein-coding gene. Diseases associated with MANBAL include ataxia.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the MANBAL gene promoter:
         AP-1   Pax-2   Lmo2   Pax-2a   AP-4   E4BP4   HEN1   GATA-6   Pax-2b   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMANBAL promoter sequence
   Search Chromatin IP Primers for MANBAL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MANBAL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.23   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

MANBAL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MANBAL gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P035918:  view genomic region     (about GC identifiers)

Start:
35,918,041 bp from pter      End:
35,945,663 bp from pter
Size:
27,623 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MANBL_HUMAN, Q9NQG1 (See protein sequence)
Recommended Name: Protein MANBAL  
Size: 85 amino acids; 9467 Da
Secondary accessions: A8KAA6 E1P5V3

Explore the universe of human proteins at neXtProt for MANBAL: NX_Q9NQG1

Explore proteomics data for MANBAL at MOPED


See MANBAL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001003897.1  NP_071360.1  

ENSEMBL proteins: 
 ENSP00000362708   ENSP00000380337   ENSP00000380339   ENSP00000362707   ENSP00000380338  
 ENSP00000380342  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR009621 UPF0239

Graphical View of Domain Structure for InterPro Entry Q9NQG1

ProtoNet protein and cluster: Q9NQG1

1 Blocks protein domain: IPB009621 Protein of unknown function UPF0239

UniProtKB/Swiss-Prot: MANBL_HUMAN, Q9NQG1
Similarity: Belongs to the UPF0239 family


MANBAL for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for MANBAL:
 Increased gamma-H2AX phosphory 

     1 MGI phenotypic allele for Manbal (no phenotypes)

MANBAL for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MANBAL
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miRNA
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miRTarBase miRNAs that target MANBAL:
hsa-mir-615-3p (MIRT039765)

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7 qRT-PCR Assays for microRNAs that regulate MANBAL:
hsa-miR-142-3p hsa-miR-124 hsa-miR-149 hsa-miR-506 hsa-miR-3157-5p hsa-miR-3125 hsa-miR-3916
SwitchGear 3'UTR luciferase reporter plasmidMANBAL 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat MANBAL

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Sino Biological Human cDNA Clone for MANBAL
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MANBAL
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANBAL

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANBAL


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MANBL_HUMAN, Q9NQG1: Membrane; Single-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane2
cytosol1
endoplasmic reticulum1
extracellular1
mitochondrion1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

MANBAL for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MANBAL
Interactions:

    Search GeneGlobe Interaction Network for MANBAL

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for MANBAL (Q9NQG13 ENSP000003627074) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CACNA1AO005553I2D: score=1 
ELAVL1ENSP000003852694STRING: ENSP00000385269
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MANBAL (MANBL)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for MANBAL gene (2 alternative transcripts): 
NM_001003897.1  NM_022077.3  

Unigene Cluster for MANBAL:

Mannosidase, beta A, lysosomal-like
Hs.6126  [show with all ESTs]
Unigene Representative Sequence: AK026708
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000373606(uc002xgv.3) ENST00000397150 ENST00000397152(uc002xgw.3)
ENST00000373605 ENST00000397151 ENST00000397156(uc002xgu.3)
miRNA
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7 qRT-PCR Assays for microRNAs that regulate MANBAL:
hsa-miR-142-3p hsa-miR-124 hsa-miR-149 hsa-miR-506 hsa-miR-3157-5p hsa-miR-3125 hsa-miR-3916
SwitchGear 3'UTR luciferase reporter plasmidMANBAL 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for MANBAL
Predesigned siRNA for gene silencing in human, mouse, rat MANBAL
Clone
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OriGene clones in human, mouse for MANBAL (see all 15)
OriGene ORF clones in mouse, rat for MANBAL
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GenScript: all cDNA clones in your preferred vector (see all 2): MANBAL (NM_022077)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MANBAL
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANBAL
Primer
Products:
    
OriGene qPCR primer pairs and template standards for MANBAL
OriGene qSTAR qPCR primer pairs in human, mouse for MANBAL
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MANBAL
  QuantiTect SYBR Green Assays in human, mouse, rat MANBAL
  QuantiFast Probe-based Assays in human, mouse, rat MANBAL

Additional mRNA sequence: 

AK026708.1 AK292971.1 BC014672.1 BC016822.1 

8 DOTS entries:

DT.217198  DT.100798083  DT.95148433  DT.100798076  DT.100798079  DT.100798078  DT.100798077  DT.120805304 

Selected AceView cDNA sequences (see all 274):

CA454515 CR593416 CR622593 CF126936 BG739779 NM_001003897 CR595823 AA806555 
AA427524 BX384102 CR594738 AA962486 AI240997 BQ434037 AI348242 CD672633 
BQ880675 AA326864 BM839765 CR598775 BM769611 BQ051237 AA236495 CR593460 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for MANBAL (see all 7)    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1:                                      -           -                                       
SP2:                                      -                                                   
SP3:              -     -     -     -     -           -                                       
SP4:                                      -     -     -                                       
SP5:                                                  -                                       


ECgene alternative splicing isoforms for MANBAL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MANBAL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MANBAL Expression
About this image

MANBAL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MANBAL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.6126
    Custom PCR Arrays for MANBAL
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MANBAL
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QuantiFast Probe-based Assays in human, mouse, rat MANBAL
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANBAL

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for MANBAL gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Manbal1 , 5 mannosidase, beta A, lysosomal-like1, 5 87.84(n)1
86.49(a)1
  2 (78.29 cM)5
691611  NM_026968.31  NP_081244.21 
 1573675945 
chicken
(Gallus gallus)
Aves --
--
Uncharacterized protein
58(a)
45(a)
many → 1
many → 1
20(5400857-5406428)
20(1676501-1765540)
lizard
(Anolis carolinensis)
Reptilia MANBAL6
mannosidase, beta A, lysosomal-like
68(a)
1 ↔ 1
GL343291.1(1404055-1407400)
zebrafish
(Danio rerio)
Actinopterygii MANBAL6
mannosidase, beta A, lysosomal-like
57(a)
1 ↔ 1
6(55188965-55191586) ENSDARG00000059853


ENSEMBL Gene Tree for MANBAL (if available)
TreeFam Gene Tree for MANBAL (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MANBAL gene

MANBAL for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for MANBAL
PGOHUM00000250787


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MANBAL (see all 608)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1878050901,2
--35916268(+) ATTAGC/TGAATG 2 -- us2k10--------
rs2016709301,2
--35916341(+) TCTCT-/CTTTTT 2 -- us2k10--------
rs60326221,2
C,F,A,H--35916342(+) TCTCTT/CTTTTT 2 -- us2k1 trp318Minor allele frequency- C:0.27NS EA NA WA CSA 1990
rs1405667901,2
C--35916426(+) ATCCTA/GAAACT 2 -- us2k10--------
rs1420827071,2
--35916523(+) GGTTGC/TTCTTG 2 -- us2k10--------
rs1843292591,2
--35916652(+) CAGTTA/TCTCCC 2 -- us2k10--------
rs1128401131,2
C,F--35916724(+) TCAAGG/ACAGAG 2 -- us2k11Minor allele frequency- A:0.50NA 2
rs782107101,2
C,F--35916743(+) AAGTTG/ACAATG 2 -- us2k11Minor allele frequency- A:0.50NA 2
rs588129501,2
C--35916757(+) TTTATG/AACTTT 2 -- us2k12Minor allele frequency- A:0.06WA 120
rs1890504781,2
--35916917(+) CATCTA/GGGTTT 2 -- us2k10--------

HapMap Linkage Disequilibrium report for MANBAL (35918041 - 35945663 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for MANBAL:    About this table    
Variant IDTypeSubtypePubMed ID
nsv509767CNV Insertion20534489
nsv524059CNV Loss19592680
nsv470551CNV Gain18288195

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MANBAL
DNA2.0 Custom Variant and Variant Library Synthesis for MANBAL

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for MANBAL:    
About MalaCards
ataxia


MANBAL for disorders           About GeneDecksing


Export disorders for MANBAL gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for MANBAL gene integrated from 10 sources:
(articles sorted by number of sources associating them with MANBAL)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  4. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (Hum. Mol. Genet. 2011)
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
  6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 63905 HGNC: 15799 AceView: MANBAL Ensembl:ENSG00000101363 euGenes: HUgn63905
ECgene: MANBAL H-InvDB: MANBAL

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MANBAL Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for MANBAL gene:
Search GeneIP for patents involving MANBAL

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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