Aliases for GATD1 Gene

Aliases for GATD1 Gene

  • Glutamine Amidotransferase Like Class 1 Domain Containing 1 2 3 5
  • Glutamine Amidotransferase-Like Class 1 Domain-Containing Protein 1 3 4
  • Parkinson Disease 7 Domain-Containing Protein 1 3 4
  • Parkinson Disease 7 Domain Containing 1 2 3
  • PDDC1 3 4

External Ids for GATD1 Gene

Previous HGNC Symbols for GATD1 Gene

  • PDDC1

Summaries for GATD1 Gene

GeneCards Summary for GATD1 Gene

GATD1 (Glutamine Amidotransferase Like Class 1 Domain Containing 1) is a Protein Coding gene. Diseases associated with GATD1 include Fuchs' Endothelial Dystrophy.

Additional gene information for GATD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GATD1 Gene

Genomics for GATD1 Gene

GeneHancer (GH) Regulatory Elements for GATD1 Gene

Promoters and enhancers for GATD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GATD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GATD1

Genomic Locations for GATD1 Gene

Genomic Locations for GATD1 Gene
chr11:767,217-777,501
(GRCh38/hg38)
Size:
10,285 bases
Orientation:
Minus strand
chr11:767,220-777,488
(GRCh37/hg19)
Size:
10,269 bases
Orientation:
Minus strand

Genomic View for GATD1 Gene

Genes around GATD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GATD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GATD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GATD1 Gene

Proteins for GATD1 Gene

  • Protein details for GATD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NB37-GALD1_HUMAN
    Recommended name:
    Glutamine amidotransferase-like class 1 domain-containing protein 1
    Protein Accession:
    Q8NB37
    Secondary Accessions:
    • B7ZKW5
    • Q2NL76
    • Q6ZQY0
    • Q8NAE0

    Protein attributes for GATD1 Gene

    Size:
    220 amino acids
    Molecular mass:
    23298 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GATD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GATD1 Gene

Post-translational modifications for GATD1 Gene

  • Glycosylation at Asn201
  • Ubiquitination at Lys77
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GATD1 Gene

Domains & Families for GATD1 Gene

Gene Families for GATD1 Gene

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

Protein Domains for GATD1 Gene

Blocks:
  • Family of unknown function ThiJ/PfpI
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GATD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53027, highly similar to Mus musculus Parkinson disease 7 domain containing 1 (Pddc1), mRNA (B7Z1J9_HUMAN)
  • PDDC1 protein (B7ZKW3_HUMAN)
  • PDDC1 protein (B7ZKW4_HUMAN)
  • Parkinson disease 7 domain-containing protein 1 (PDDC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NB37

UniProtKB/Swiss-Prot:

GALD1_HUMAN :
  • Belongs to the peptidase C56 family.
Family:
  • Belongs to the peptidase C56 family.
genes like me logo Genes that share domains with GATD1: view

Function for GATD1 Gene

Phenotypes From GWAS Catalog for GATD1 Gene

Gene Ontology (GO) - Molecular Function for GATD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with GATD1: view
genes like me logo Genes that share phenotypes with GATD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GATD1

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GATD1 Gene

Localization for GATD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GATD1 Gene

Secreted.

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 GATD1 gene
Compartment Confidence
extracellular 3
nucleus 2
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GATD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GATD1: view

Pathways & Interactions for GATD1 Gene

PathCards logo

SuperPathways for GATD1 Gene

No Data Available

Interacting Proteins for GATD1 Gene

;

Gene Ontology (GO) - Biological Process for GATD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with GATD1: view

No data available for Pathways by source and SIGNOR curated interactions for GATD1 Gene

Drugs & Compounds for GATD1 Gene

No Compound Related Data Available

Transcripts for GATD1 Gene

mRNA/cDNA for GATD1 Gene

7 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
16 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 GATD1 Gene

No ASD Table

Relevant External Links for GATD1 Gene

GeneLoc Exon Structure for
GATD1

Expression for GATD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GATD1

Evidence on tissue expression from TISSUES for GATD1 Gene

  • Nervous system(4.6)
  • Intestine(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GATD1 Gene

Orthologs for GATD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GATD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDDC1 30
  • 90.72 (n)
dog
(Canis familiaris)
Mammalia PDDC1 31 31 30
  • 88.48 (n)
OneToMany
cow
(Bos Taurus)
Mammalia PDDC1 31 30
  • 87.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pddc1 31 30
  • 85.76 (n)
OneToOne
Gatd1 17
rat
(Rattus norvegicus)
Mammalia Pddc1 30
  • 85.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDDC1 31
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDDC1 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDDC1 31 30
  • 74.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDDC1 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pddc1 30
  • 67.43 (n)
Str.11868 30
zebrafish
(Danio rerio)
Actinopterygii pddc1 31 30
  • 65.73 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2124 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4136 31
  • 51 (a)
OneToOne
Species where no ortholog for GATD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GATD1 Gene

ENSEMBL:
Gene Tree for GATD1 (if available)
TreeFam:
Gene Tree for GATD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GATD1: view image

Paralogs for GATD1 Gene

No data available for Paralogs for GATD1 Gene

Variants for GATD1 Gene

Additional dbSNP identifiers (rs#s) for GATD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GATD1 Gene

Variant ID Type Subtype PubMed ID
dgv1013n100 CNV gain 25217958
dgv182e199 CNV deletion 23128226
dgv566n106 CNV deletion 24896259
esv1306344 CNV deletion 17803354
esv2743871 CNV deletion 23290073
esv2743872 CNV deletion 23290073
esv2759794 CNV loss 17122850
esv3547183 CNV deletion 23714750
esv3625077 CNV gain 21293372
esv3625081 CNV gain 21293372
esv990408 CNV deletion 20482838
nsv1040044 CNV gain+loss 25217958
nsv1146743 CNV deletion 26484159
nsv1147384 CNV deletion 26484159
nsv1159791 CNV deletion 26073780
nsv469923 CNV loss 18288195
nsv552870 CNV loss 21841781
nsv552871 CNV loss 21841781
nsv8758 CNV gain 18304495
nsv8759 CNV gain 18304495
nsv951272 CNV deletion 24416366

Variation tolerance for GATD1 Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GATD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GATD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GATD1 Gene

Disorders for GATD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GATD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards
Search GATD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GATD1

genes like me logo Genes that share disorders with GATD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GATD1 Gene

Publications for GATD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  3. 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
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for GATD1 Gene

Sources for GATD1 Gene