This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013] See more...

Aliases for GLT8D1 Gene

Aliases for GLT8D1 Gene

  • Glycosyltransferase 8 Domain Containing 1 2 3 5
  • Glycosyltransferase 8 Domain-Containing Protein 1 3 4
  • Glycosyltransferase AD-017 3
  • EC 2.4.1.- 4
  • EC 2.4.1 52
  • MSTP139 3
  • AD-017 3
  • GALA4A 4

External Ids for GLT8D1 Gene

Summaries for GLT8D1 Gene

Entrez Gene Summary for GLT8D1 Gene

  • This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]

GeneCards Summary for GLT8D1 Gene

GLT8D1 (Glycosyltransferase 8 Domain Containing 1) is a Protein Coding gene. Diseases associated with GLT8D1 include Amyotrophic Lateral Sclerosis 1. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is GLT8D2.

Additional gene information for GLT8D1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLT8D1 Gene

Genomics for GLT8D1 Gene

GeneHancer (GH) Regulatory Elements for GLT8D1 Gene

Promoters and enhancers for GLT8D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052703 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.3 346 4.6 EP300 FOXK2 HNRNPK ZBTB40 ZNF217 SIN3A MYC POLR2G NCOR1 PHF8 GLT8D1 HSALNG0026180 SPCS1 lnc-GLT8D1-1 PBRM1 RFT1
GH03J052683 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +19.9 19861 5.2 FOXK2 ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 MYC POLR2G USF1 PBRM1 GNL3 HSALNG0026174 RRP9 RFT1 ABHD14B GLT8D1 SNORD19B NISCH RPL29
GH03J053141 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 24.1 -434.8 -434847 0.4 FOXK2 NRF1 RFX1 ZNF148 SALL2 USF2 USF1 SRF ZNF207 MEF2B GLT8D1 NISCH PRKCD ACTR8 NEK4 RFT1 STIMATE DCP1A ITIH3 PBRM1
GH03J053140 Enhancer 0.8 ENCODE dbSUPER 24.1 -434.5 -434477 0.2 FOXK2 ZNF148 SALL2 SRF ZNF207 ZFHX2 PAX8 NRF1 ZNF18 ZNF398 GLT8D1 RFT1 NISCH ACTR8 NEK4 piR-36495
GH03J053165 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 -462.9 -462879 7.4 SIN3A POLR2G EP300 ZIC2 KDM6A RELA ZBTB7A ZNF341 BCL11A TCF12 PRKCD STIMATE GLT8D1 TKT GNL3 DCP1A PBRM1 NONHSAG035203.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLT8D1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLT8D1

Top Transcription factor binding sites by QIAGEN in the GLT8D1 gene promoter:
  • ATF-2
  • c-Jun

Genomic Locations for GLT8D1 Gene

Genomic Locations for GLT8D1 Gene
chr3:52,694,484-52,706,083
(GRCh38/hg38)
Size:
11,600 bases
Orientation:
Minus strand
chr3:52,728,504-52,740,048
(GRCh37/hg19)
Size:
11,545 bases
Orientation:
Minus strand

Genomic View for GLT8D1 Gene

Genes around GLT8D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLT8D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLT8D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLT8D1 Gene

Proteins for GLT8D1 Gene

  • Protein details for GLT8D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68CQ7-GL8D1_HUMAN
    Recommended name:
    Glycosyltransferase 8 domain-containing protein 1
    Protein Accession:
    Q68CQ7
    Secondary Accessions:
    • Q7Z4D1
    • Q8N2J6
    • Q9P0I5

    Protein attributes for GLT8D1 Gene

    Size:
    371 amino acids
    Molecular mass:
    41935 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ13652.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for GLT8D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLT8D1 Gene

Selected DME Specific Peptides for GLT8D1 Gene

Q68CQ7:
  • KPLTFARFYLPILVP
  • GHAAAFS
  • PPLLIVFY
  • TADHLRSWL
  • TCSFNPGVFVANLTEW
  • KWYIPDPTGKF
  • FLLVLHHN
  • AKLLHWNG
  • IDPMWNVRHLG
  • NQYNYIG
  • DDDVIVQGDI
  • VRHLGSS
  • LDYKKERIR

Post-translational modifications for GLT8D1 Gene

  • Glycosylation at Asn103, Asn249, Asn257, and Thr365
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GL8D1_HUMAN (1277)

Domains & Families for GLT8D1 Gene

Gene Families for GLT8D1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GLT8D1 Gene

Blocks:
  • Glycosyl transferase, family 8
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLT8D1 Gene

GenScript: Design optimal peptide antigens:
  • Glycosyltransferase 8 domain-containing protein 1 (GL8D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q68CQ7

UniProtKB/Swiss-Prot:

GL8D1_HUMAN :
  • Belongs to the glycosyltransferase 8 family.
Family:
  • Belongs to the glycosyltransferase 8 family.
genes like me logo Genes that share domains with GLT8D1: view

Function for GLT8D1 Gene

Enzyme Numbers (IUBMB) for GLT8D1 Gene

Phenotypes From GWAS Catalog for GLT8D1 Gene

Gene Ontology (GO) - Molecular Function for GLT8D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with GLT8D1: view
genes like me logo Genes that share phenotypes with GLT8D1: view

Human Phenotype Ontology for GLT8D1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLT8D1 Gene

MGI Knock Outs for GLT8D1:

Animal Model Products

  • Taconic Biosciences Mouse Models for GLT8D1

CRISPR Products

miRNA for GLT8D1 Gene

miRTarBase miRNAs that target GLT8D1

Clone Products

No data available for Molecular function , Transcription Factor Targets and HOMER Transcription for GLT8D1 Gene

Localization for GLT8D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLT8D1 Gene

Membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLT8D1 gene
Compartment Confidence
golgi apparatus 4
extracellular 2
mitochondrion 2
nucleus 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GLT8D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GLT8D1: view

Pathways & Interactions for GLT8D1 Gene

PathCards logo

SuperPathways for GLT8D1 Gene

No Data Available

Interacting Proteins for GLT8D1 Gene

;

Gene Ontology (GO) - Biological Process for GLT8D1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GLT8D1 Gene

Drugs & Compounds for GLT8D1 Gene

No Compound Related Data Available

Transcripts for GLT8D1 Gene

mRNA/cDNA for GLT8D1 Gene

5 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLT8D1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a ·
SP1: - - - - - - - - - - - - - -
SP2: -
SP3: - - - - - - - - -
SP4:
SP5: - - - - - - -
SP6:
SP7: - - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - - - - - -
SP12: - - - - - - - - -
SP13: - -
SP14: -
SP15:
SP16:
SP17:
SP18: - - - - -

ExUns: 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: -
SP3:
SP4: -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17:
SP18:

Relevant External Links for GLT8D1 Gene

GeneLoc Exon Structure for
GLT8D1

Expression for GLT8D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLT8D1 Gene

Protein differential expression in normal tissues from HIPED for GLT8D1 Gene

This gene is overexpressed in Islet of Langerhans (18.2), Pancreatic juice (9.3), Placenta (7.9), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLT8D1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLT8D1

SOURCE GeneReport for Unigene cluster for GLT8D1 Gene:

Hs.297304

Evidence on tissue expression from TISSUES for GLT8D1 Gene

  • Adrenal gland(4.3)
  • Liver(4.3)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with GLT8D1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLT8D1 Gene

Orthologs for GLT8D1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLT8D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLT8D1 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLT8D1 31 30
  • 91.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLT8D1 31 30
  • 90.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glt8d1 17 31 30
  • 89.49 (n)
rat
(Rattus norvegicus)
Mammalia Glt8d1 30
  • 89.49 (n)
oppossum
(Monodelphis domestica)
Mammalia GLT8D1 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLT8D1 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLT8D1 31 30
  • 74.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLT8D1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9985 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9402 30
zebrafish
(Danio rerio)
Actinopterygii glt8d1 31 30
  • 65.55 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons GATL6 30
  • 46.83 (n)
Species where no ortholog for GLT8D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GLT8D1 Gene

ENSEMBL:
Gene Tree for GLT8D1 (if available)
TreeFam:
Gene Tree for GLT8D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLT8D1: view image

Paralogs for GLT8D1 Gene

Paralogs for GLT8D1 Gene

(1) SIMAP similar genes for GLT8D1 Gene using alignment to 8 proteins:

  • GL8D1_HUMAN
  • C9J6X9_HUMAN
  • C9J880_HUMAN
  • C9JA13_HUMAN
  • C9JNB0_HUMAN
  • C9JPK4_HUMAN
  • C9JY96_HUMAN
  • H7C4V6_HUMAN
genes like me logo Genes that share paralogs with GLT8D1: view

Variants for GLT8D1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLT8D1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs2276812 - p.Arg210His

Additional dbSNP identifiers (rs#s) for GLT8D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GLT8D1 Gene

Variant ID Type Subtype PubMed ID
esv3336498 CNV insertion 20981092
esv991877 CNV insertion 20482838

Variation tolerance for GLT8D1 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLT8D1 Gene

Human Gene Mutation Database (HGMD)
GLT8D1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLT8D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLT8D1 Gene

Disorders for GLT8D1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLT8D1 Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GLT8D1

genes like me logo Genes that share disorders with GLT8D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLT8D1 Gene

Publications for GLT8D1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes. (PMID: 29483533) Yang CP … Luo XJ (Nature communications 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 54

Products for GLT8D1 Gene

Sources for GLT8D1 Gene