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B4GALNT1 Gene

protein-coding   GIFtS: 57
GCID: GC12M058019

Beta-1,4-N-Acetyl-Galactosaminyl Transferase 1

(Previous names: UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide...)
(Previous symbols: GALGT, SPG26)
  See B4GALNT1-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)
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Aliases
Beta-1,4-N-Acetyl-Galactosaminyl Transferase 11 2     GD2 Synthase1
GALGT1 2 3 5     GM2 Synthase1
SPG261 2 5     Spastic Paraplegia 261
UDP-Gal:BetaGlcNAc Beta-1,4-N-Acetylgalactosaminyltransferase Transferase
11 2
     Beta-1,4 N-Acetylgalactosaminyltransferase 12
UDP-N-Acetyl-Alpha-D-Galactosamine:(N-Acetylneuraminyl)-Galactosylglucosylceramide
N-Acetylgalactosaminyltransferase (GalNAc-T)1 2
     beta1,4GalNAc-T2
GalNAc-T2 3     GD2 Synthase, GM2 Synthase2
GM2/GD2 Synthase2 3     (N-acetylneuraminyl)-galactosylglucosylceramide3
EC 2.4.1.923 8     SIAT23
GALNACT2 5     

External Ids:    HGNC: 41171   Entrez Gene: 25832   Ensembl: ENSG000001354547   OMIM: 6018735   UniProtKB: Q009733   

Export aliases for B4GALNT1 gene to outside databases

Previous GC identifers: GC12M056306 GC12M055057


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for B4GALNT1 Gene:
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the
biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and
G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Feb 2013)

GeneCards Summary for B4GALNT1 Gene:
B4GALNT1 (beta-1,4-N-acetyl-galactosaminyl transferase 1) is a protein-coding gene. Diseases associated with B4GALNT1 include spastic paraplegia 26, autosomal recessive, and spastic paraplegia 26. GO annotations related to this gene include (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT2.

UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2

Gene Wiki entry for B4GALNT1 Gene


(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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B4GALNT1 gene promoter:
         p53   AML1a   FOXD1   Cdc5   c-Ets-1   GATA-2   HEN1   POU2F1   POU2F1a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALNT1 promoter sequence
   Search Chromatin IP Primers for B4GALNT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B4GALNT1


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

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.3

B4GALNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALNT1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M058019:  view genomic region     (about GC identifiers)

Start:
58,017,193 bp from pter      End:
58,027,138 bp from pter
Size:
9,946 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: B4GN1_HUMAN, Q00973 (See protein sequence)
Recommended Name: Beta-1,4 N-acetylgalactosaminyltransferase 1  
Size: 533 amino acids; 58882 Da
Subunit: Homodimer; disulfide-linked

Explore the universe of human proteins at neXtProt for B4GALNT1: NX_Q00973

Explore proteomics data for B4GALNT1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn79, Asn179, Asn274
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for B4GALNT1 (Q00973)
     VGFDPRL  GVVNFFLA  MPFGKGWFAGRNLA  SQVTTKYVLWVDDDF 


    See B4GALNT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001263397.1  NP_001263398.1  NP_001469.1  

    ENSEMBL proteins: 
     ENSP00000341562   ENSP00000401601   ENSP00000447076   ENSP00000448577   ENSP00000447750  
     ENSP00000473533   ENSP00000450303   ENSP00000448500   ENSP00000447945   ENSP00000448340  
     ENSP00000449534   ENSP00000446566  

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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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    HGNC Gene Families:
    GLT2: Glycosyltransferase family 2 domain containing
    B4GT: Beta 4-glycosyltransferases

    2 InterPro protein domains:
     IPR001173 Glyco_trans_2
     IPR011143 GM2_synthase

    Graphical View of Domain Structure for InterPro Entry Q00973

    ProtoNet protein and cluster: Q00973

    1 Blocks protein domain: IPB001173 Glycosyl transferase

    UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
    Similarity: Belongs to the glycosyltransferase 2 family


    Find genes that share domains with B4GALNT1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B4GN1_HUMAN, Q00973
    Function: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine +
    O-(N-acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide =
    UDP +
    O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide

         Enzyme Number (IUBMB): EC 2.4.1.921 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003947(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity IEA--
    GO:0008376acetylgalactosaminyltransferase activity ----
    GO:0016740transferase activity ----
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0016758transferase activity, transferring hexosyl groups ----
         
    Find genes that share ontologies with B4GALNT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for B4GALNT1:
     Decreased number of cells in m 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for B4galnt1):
     behavior/neurological  endocrine/exocrine gland  hematopoietic system  immune system  mortality/aging 
     nervous system  renal/urinary system  reproductive system  respiratory system 

    Find genes that share phenotypes with B4GALNT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for B4GALNT1: B4galnt1tm1Rlp B4galnt1tm1Sia

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B4GALNT1
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    miRNA
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    hsa-miR-892b hsa-miR-1226 hsa-miR-3616-5p hsa-miR-1271 hsa-miR-890 hsa-miR-9 hsa-miR-3662 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidB4GALNT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat B4GALNT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALNT1


    (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
    B4GN1_HUMAN, Q00973: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    extracellular2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane TAS1601877
    GO:0030173integral component of Golgi membrane IEA--

    Find genes that share ontologies with B4GALNT1           About GenesLikeMe


    (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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    SuperPaths for B4GALNT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Glycosphingolipid biosynthesis - ganglio series
    Ganglio Sphingolipid Metabolism0.53
    Glycosphingolipid biosynthesis - ganglio series0.53
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with B4GALNT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for B4GALNT1
        Ganglio Sphingolipid Metabolism



    2 Kegg Pathways  (Kegg details for B4GALNT1):
        Glycosphingolipid biosynthesis - ganglio series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B4GALNT1
    Interactions:

        Search GeneGlobe Interaction Network for B4GALNT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for B4GALNT1 (ENSP000003415624) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000236802ENSP000004148804STRING: ENSP00000414880
    ST3GAL5ENSP000003665494STRING: ENSP00000366549
    ST8SIA1ENSP000003793534STRING: ENSP00000379353
    ST8SIA5ENSP000003213434STRING: ENSP00000321343
    GLB1ENSP000003069204STRING: ENSP00000306920
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001574ganglioside biosynthetic process IEA--
    GO:0005975carbohydrate metabolic process TAS1601877
    GO:0006486protein glycosylation IEA--
    GO:0006687glycosphingolipid metabolic process TAS1601877
    GO:0007283spermatogenesis IEA--

    Find genes that share ontologies with B4GALNT1           About GenesLikeMe



    (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 B4GALNT1 (B4GN1)

    Selected HMDB Compounds for B4GALNT1 (see all 76)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ganglioside GM2 (d18:0/12:0) --12486725
    Ganglioside GM2 (d18:0/14:0) --12486725
    Ganglioside GM2 (d18:0/16:0) --12486725
    Ganglioside GM2 (d18:0/18:0) --12486725
    Ganglioside GM2 (d18:0/18:1(11Z)) --12486725
    Ganglioside GM2 (d18:0/18:1(9Z)) --12486725
    Ganglioside GM2 (d18:0/20:0) --12486725
    Ganglioside GM2 (d18:0/22:0) --12486725
    Ganglioside GM2 (d18:0/22:1(13Z)) --12486725
    Ganglioside GM2 (d18:0/23:0) --12486725

    3 Novoseek inferred chemical compound relationships for B4GALNT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    asialo gm2 83.5 2 7890749 (1), 8737246 (1)
    ganglioside 81.2 8 9639544 (1), 9930722 (1), 10820196 (1), 12177185 (1) (see all 5)
    tyrosine 3.63 2 18520032 (1), 16384890 (1)



    Find genes that share compounds with B4GALNT1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for B4GALNT1 gene (3 alternative transcripts): 
    NM_001276468.1  NM_001276469.1  NM_001478.4  

    Unigene Cluster for B4GALNT1:

    Beta-1,4-N-acetyl-galactosaminyl transferase 1
    Hs.159481  [show with all ESTs]
    Unigene Representative Sequence: NM_001478
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553142(uc010sru.2 uc001spg.1) ENST00000341156 ENST00000552468
    ENST00000418555 ENST00000552798 ENST00000547741 ENST00000549391 ENST00000449184(uc010srv.2)
    ENST00000550764(uc001spi.3) ENST00000552350 ENST00000548888 ENST00000552219
    ENST00000548487 ENST00000551925(uc010srw.1) ENST00000550943 ENST00000551220

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    Additional mRNA sequence: 

    AK127448.1 AK289690.1 AK293432.1 AK299845.1 AK302503.1 BC029828.1 M83651.1 

    8 DOTS entries:

    DT.309821  DT.100775139  DT.97796097  DT.423176  DT.99969655  DT.97837287  DT.95162962  DT.97810499 

    Selected AceView cDNA sequences (see all 72):

    AI913075 CR622992 AI360246 CR610248 BM758410 AL520907 BE547617 CK300234 
    AI084079 M83651 BM827399 BQ647977 AA779389 BM740142 BQ943591 CB154451 
    BU634463 CA431063 BC029828 BU632715 BU615671 AK127448 BQ895870 AI655994 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ·
    SP1:                    -     -     -                             -                                                                                             
    SP2:                                                              -                             -     -                                                         
    SP3:                    -     -     -                             -                                                                                             
    SP4:                                                              -                                                                                             
    SP5:                                                                                            -                                                               

    ExUns: 15c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for B4GALNT1

    (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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    B4GALNT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGATAAAAT
    B4GALNT1 Expression
    About this image


    B4GALNT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
    B4GALNT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B4GALNT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159481
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    (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 B4GALNT1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galnt11 , 5 beta-1,4-N-acetyl-galactosaminyl transferase 11, 5 84.8(n)1
    86.87(a)1
      10 (74.50 cM)5
    144211  NM_027739.21  NP_082015.21 
     1271651565 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALNT16
    beta-1,4-N-acetyl-galactosaminyl transferase 1
    59(a)
    1 ↔ 1
    GL344119.1(21402-56452)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC535232 similar to UDP-N-acetyl-alpha-D-galactosamine(N-acetylneuraminyl)- more 73.04(n)    BC045131.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7936351 beta-1,4 N-acetylgalactosaminyltransferase 1-like 61.34(n)
    60.92(a)
      793635  XM_001333393.2  XP_001333429.1 


    ENSEMBL Gene Tree for B4GALNT1 (if available)
    TreeFam Gene Tree for B4GALNT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B4GALNT1 gene
    B4GALNT22  
    1 SIMAP similar gene for B4GALNT1 using alignment to 15 protein entries:     B4GN1_HUMAN (see all proteins):
    B4GALNT2

    Find genes that share paralogs with B4GALNT1           About GenesLikeMe



    (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 B4GALNT1 (see all 255)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0702354
    Spastic paraplegia 26, autosomal recessive (SPG26)4--see VAR_0702352 R C mis40--------
    VAR_0702364
    Spastic paraplegia 26, autosomal recessive (SPG26)4--see VAR_0702362 D A mis40--------
    rs1510056611,2
    --55065838(+) CAGCTA/TCTTGG 3 -- us2k1 int10--------
    rs111722731,2
    A--55065966(+) AAAAAA/GAAAAA 3 -- us2k1 int1 trp30--------
    rs2014473381,2
    --55065966(+) AAAAA-/GAAAAA 3 -- us2k1 int10--------
    rs1995494391,2
    --55065969(+) GAAAA-/AGAAAAA 3 -- us2k1 int10--------
    rs1411635701,2
    C--55066047(+) TAAAGA/GAGACT 3 -- us2k1 int10--------
    rs23724891,2
    C--55066238(+) caataC/Taatga 2 -- us2k10--------
    rs1896007481,2
    --55066301(+) GTCTTG/TCTATG 2 -- us2k10--------
    rs1468085101,2
    C--55066447(+) GTGGC-/TTGTAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for B4GALNT1 (58017193 - 58027138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for B4GALNT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv511490CNV Loss21212237

    Human Gene Mutation Database (HGMD): B4GALNT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B4GALNT1
    DNA2.0 Custom Variant and Variant Library Synthesis for B4GALNT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601873   
    OMIM disorders: 609195  
    UniProtKB/Swiss-Prot: B4GN1_HUMAN, Q00973
  • Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades
    of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb
    involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar
    signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 2 diseases for B4GALNT1:    
    About MalaCards
    spastic paraplegia 26, autosomal recessive    spastic paraplegia 26


    Find genes that share disorders with B4GALNT1           About GenesLikeMe

    7 Novoseek inferred disease relationships for B4GALNT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 30.8 3 9930722 (1), 7487055 (1), 17634536 (1)
    gastric cancer 24.9 4 11914601 (1), 7533654 (1)
    colon cancer 13.6 1 11914601 (1)
    cancer lung 0.883 1 11914601 (1)
    breast cancer 0 2 11914601 (1), 17634536 (1)
    carcinoma 0 2 11914601 (1), 7533654 (1)
    cancer 0 8 11914601 (4), 17634536 (1)

    Genetic Association Database (GAD): B4GALNT1
    Human Genome Epidemiology (HuGE) Navigator: B4GALNT1 (1 document)

    Export disorders for B4GALNT1 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 B4GALNT1 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with B4GALNT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. (PubMed id 23746551)1, 2, 3 Boukhris A....Stevanin G. (Am. J. Hum. Genet. 2013)
    2. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PubMed id 1601877)1, 2, 3 Nagata Y.... Furukawa K. (J. Biol. Chem. 1992)
    3. Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation. (PubMed id 19318031)1, 4, 9 Boraska V....Zemunik T. (Clin. Biochem. 2009)
    4. Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains. (PubMed id 11018043)1, 2 Li J.... Young W.W. Jr. (J. Biol. Chem. 2000)
    5. Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PubMed id 8120069)1, 2 Nagata Y.... Furukawa K. (J. Biol. Chem. 1994)
    6. Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. (PubMed id 24103911)1 Harlalka G.V....Crosby A.H. (Brain 2013)
    7. Detection of minimally disseminated disease in the cerebrospinal fluid of children with high-risk retinoblastoma by reverse transcriptase-polymerase chain reaction for GD2 synthase mRNA. (PubMed id 23721779)1 Laurent V.E....Chantada G.L. (Eur. J. Cancer 2013)
    8. Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. (PubMed id 21383967)4 Zhernakova A....Plenge R.M. (PLoS Genet. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Molecular upstaging based on paraffin-embedded sentinel lymph nodes: ten-year follow-up confirms prognostic utility in melanoma patients. (PubMed id 21135695)1 Nicholl M.B....Hoon D.S. (Ann. Surg. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2583 HGNC: 4117 AceView: GALGT Ensembl:ENSG00000135454 euGenes: HUgn2583
    ECgene: B4GALNT1 Kegg: 2583 H-InvDB: B4GALNT1

    (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 B4GALNT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALNT1
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_480

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B4GALNT1 gene:
    Search GeneIP for patents involving B4GALNT1

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



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