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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MANBAL Gene

protein-coding   GIFtS: 41
GCID: GC20P035918

Mannosidase, Beta A, Lysosomal-Like

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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

Export aliases for MANBAL gene to outside databases

Previous GC identifers: GC20P035653 GC20P036556 GC20P036603 GC20P035351 GC20P032653


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for MANBAL Gene: 
MANBAL (mannosidase, beta A, lysosomal-like) is a protein-coding gene. Diseases associated with MANBAL include macular degeneration, and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MANBAL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MANBL_HUMAN, Q9NQG1 (See protein sequence)
Recommended Name: Protein MANBAL  
Size: 85 amino acids; 9467 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: A8KAA6 E1P5V3

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

Explore proteomics data for MANBAL at MOPED 

MANBAL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MANBAL Protein Expression

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

ENSEMBL proteins: 
 ENSP00000362708   ENSP00000380337   ENSP00000380339   ENSP00000362707   ENSP00000380338  
 ENSP00000380342  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--

MANBAL for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 - Custom generated mouse model solutions for MANBAL 
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SwitchGear 3'UTR luciferase reporter plasmidMANBAL 3' UTR sequence
Inhib. RNA
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MANBAL (MANBL)

Search CenterWatch for drugs/clinical trials and news about 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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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 QIAGEN miScript miRNA 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:
     
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANBAL
Sirion Biotech Customized lentivirus for stable overexpression of MANBAL 
                     Customized lentivirus expression plasmids for stable overexpression of MANBAL 
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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 

24/274 AceView cDNA sequences (see all 274):

AI264500 BQ880675 CB127905 AA806555 AA427524 BE207082 CR594738 AA236495 
CR593416 CR593460 BG739779 CR598775 T10551 CR619234 BM839765 BQ084545 
CR602911 CD672633 AL519258 AI240997 AI348242 BE906586 CR622593 BM769611 

GeneLoc Exon Structure

5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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


See MANBAL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MANBAL

SOURCE GeneReport for Unigene cluster: Hs.6126
    SABiosciences Custom PCR Arrays for MANBAL
Primer
Products:
OriGene qPCR primer pairs and template standards for MANBAL
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QIAGEN 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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MANBAL gene from 4/10 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
88.24(a)1
  2 (78.29 cM)5
691611  NM_026968.31  NP_081244.21 
 1573675945 
chicken
(Gallus gallus)
Aves MANBAL6
--
Uncharacterized protein
58(a)
46(a)
many → 1
many → 1
20(5400857-5406428)
20(1676501-1765540)
lizard
(Anolis carolinensis)
Reptilia MANBAL6
Uncharacterized protein
67(a)
1 ↔ 1
GL343291.1(1404055-1407400)
zebrafish
(Danio rerio)
Actinopterygii LOC7950411 protein MANBAL-like 64.31(n)
63.53(a)
  795041  XM_001333258.4  XP_001333294.3 


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)
About This Section
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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/608 SNPs in MANBAL are shown (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

SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
2 diseases for MANBAL:    About MalaCards
macular degeneration    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)
About This Section

PubMed articles for MANBAL gene integrated from 9 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. (2004)
  2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
  4. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (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. (2007)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 63905 HGNC: 15799 AceView: MANBAL Ensembl:ENSG00000101363 euGenes: HUgn63905
ECgene: MANBAL H-InvDB: MANBAL

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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