Aliases for GALNTL5 Gene

Aliases for GALNTL5 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase Like 5 2 3 5
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase-Like 5 2 3
  • Inactive Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 5 3 4
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 15 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 15 3 4
  • Polypeptide GalNAc Transferase-Like 5 2 3
  • Polypeptide GalNAc Transferase 15 3 4
  • Pp-GaNTase 15 3 4
  • GalNAc-T5L 2 3
  • GalNAc-T15 3 4
  • GALNT15 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 15 2
  • Putative Polypeptide N-Acetylgalactosaminyltransferase-Like Protein 5 3
  • Testis Tissue Sperm-Binding Protein Li 61n 3
  • EC 2.4.1.41 51
  • GALNACT19 3
  • GALNTL5 5

External Ids for GALNTL5 Gene

Previous HGNC Symbols for GALNTL5 Gene

  • GALNT15

Previous GeneCards Identifiers for GALNTL5 Gene

  • GC07P151091
  • GC07P151284
  • GC07P151653
  • GC07P145465

Summaries for GALNTL5 Gene

GeneCards Summary for GALNTL5 Gene

GALNTL5 (Polypeptide N-Acetylgalactosaminyltransferase Like 5) is a Protein Coding gene. Diseases associated with GALNTL5 include Apical Myocardial Infarction. Among its related pathways are Mucin type O-glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and transferase activity. An important paralog of this gene is GALNT11.

UniProtKB/Swiss-Prot Summary for GALNTL5 Gene

  • Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNTL5 Gene

Genomics for GALNTL5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GALNTL5 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
GH07J151956 Promoter 0.6 EPDnew 600.7 +0.0 48 0.1 ZNF629 CREB1 ZNF189 ZFP37 ENSG00000227562 GALNTL5 LOC105375570 LOC105375571 lnc-GALNT11-10 GALNT11
GH07J151957 Enhancer 0.3 ENCODE 600.7 -0.7 -728 0.2 NR2F2 NRF1 ENSG00000227562 GALNTL5 LOC105375570 LOC105375571 lnc-GALNT11-10 PRKAG2
GH07J151955 Enhancer 0.3 ENCODE 600.7 -1.1 -1068 0.2 NRF1 ENSG00000227562 GALNTL5 LOC105375570 LOC105375571 lnc-GALNT11-10 PRKAG2
GH07J151782 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.7 -173.3 -173329 1.1 CTCF ZNF512 KDM1A ZNF692 BACH1 TARDBP MTA2 ZNF143 ZIC2 PKNOX1 PRKAG2 GALNTL5 LOC644090 RNU6-604P ENSG00000227562 lnc-RHEB-3 RHEB
GH07J151792 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -161.7 -161679 11.8 CEBPG CREB1 TARDBP ZIC2 PKNOX1 SP1 ZFX CEBPA RELA CEBPB PRKAG2 PRKAG2-AS1 ENSG00000227562 GALNTL5 LOC644090 FABP5P3 RHEB lnc-RHEB-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNTL5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNTL5

Top Transcription factor binding sites by QIAGEN in the GALNTL5 gene promoter:
  • aMEF-2
  • ISGF-3
  • MEF-2A
  • Pbx1a
  • SEF-1 (1)

Genomic Locations for GALNTL5 Gene

Genomic Locations for GALNTL5 Gene
chr7:151,956,379-152,019,929
(GRCh38/hg38)
Size:
63,551 bases
Orientation:
Plus strand
chr7:151,653,464-151,717,019
(GRCh37/hg19)
Size:
63,556 bases
Orientation:
Plus strand

Genomic View for GALNTL5 Gene

Genes around GALNTL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNTL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNTL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNTL5 Gene

Proteins for GALNTL5 Gene

  • Protein details for GALNTL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4T8-GLTL5_HUMAN
    Recommended name:
    Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5
    Protein Accession:
    Q7Z4T8
    Secondary Accessions:
    • Q75KN2
    • Q75MD3
    • Q8NCV4
    • Q8WW05
    • Q9UDR9

    Protein attributes for GALNTL5 Gene

    Size:
    443 amino acids
    Molecular mass:
    51427 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM20912.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAP97318.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for GALNTL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNTL5 Gene

Selected DME Specific Peptides for GALNTL5 Gene

Q7Z4T8:
  • FLDSHCE
  • GLIRARL
  • KREGLIR
  • PCSRVGH

Post-translational modifications for GALNTL5 Gene

  • Glycosylation at Asn87
  • Modification sites at PhosphoSitePlus

Domains & Families for GALNTL5 Gene

Gene Families for GALNTL5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for GALNTL5 Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 2
ProtoNet:

Suggested Antigen Peptide Sequences for GALNTL5 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15 (GLTL5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z4T8

UniProtKB/Swiss-Prot:

GLTL5_HUMAN :
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Domain:
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNTL5: view

Function for GALNTL5 Gene

Molecular function for GALNTL5 Gene

UniProtKB/Swiss-Prot Function:
Probable inactive glycosyltransferase required during spermatid development. May participate in protein loading into the acrosomes and accumulation of ubiquitin-proteasome systems around the head-tail coupling apparatus region.

Enzyme Numbers (IUBMB) for GALNTL5 Gene

Phenotypes From GWAS Catalog for GALNTL5 Gene

Gene Ontology (GO) - Molecular Function for GALNTL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 NOT transferase activity, transferring glycosyl groups IDA 24398516
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNTL5: view
genes like me logo Genes that share phenotypes with GALNTL5: view

Animal Models for GALNTL5 Gene

MGI Knock Outs for GALNTL5:

Animal Model Products

CRISPR Products

miRNA for GALNTL5 Gene

miRTarBase miRNAs that target GALNTL5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNTL5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNTL5 Gene

Localization for GALNTL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNTL5 Gene

Late endosome membrane. Single-pass type II membrane protein. Note=Localizes to the juxtanuclear region, possibly the late endosome. Not localized in the Golgi apparatus in round spermatids (By similarity). {ECO:0000250}.

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 GALNTL5 gene
Compartment Confidence
golgi apparatus 4
endosome 3
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GALNTL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with GALNTL5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GALNTL5 Gene

Pathways & Interactions for GALNTL5 Gene

genes like me logo Genes that share pathways with GALNTL5: view

Interacting Proteins for GALNTL5 Gene

Gene Ontology (GO) - Biological Process for GALNTL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 NOT protein glycosylation IDA 24398516
GO:0007283 spermatogenesis IEA --
GO:0007286 spermatid development IEA,IMP 24398516
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GALNTL5: view

No data available for SIGNOR curated interactions for GALNTL5 Gene

Drugs & Compounds for GALNTL5 Gene

(3) Drugs for GALNTL5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 56
Uridine 5'-diphosphate Experimental Pharma 0
Calcium Nutra 6556

(2) Additional Compounds for GALNTL5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-amino-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-amino-2-Deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNTL5: view

Transcripts for GALNTL5 Gene

mRNA/cDNA for GALNTL5 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNTL5

Alternative Splicing Database (ASD) splice patterns (SP) for GALNTL5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: - -

Relevant External Links for GALNTL5 Gene

GeneLoc Exon Structure for
GALNTL5

Expression for GALNTL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALNTL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALNTL5 Gene

This gene is overexpressed in Testis (x31.8), Brain - Cortex (x4.7), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for GALNTL5 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GALNTL5 Gene



Protein tissue co-expression partners for GALNTL5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALNTL5

SOURCE GeneReport for Unigene cluster for GALNTL5 Gene:

Hs.647077

mRNA Expression by UniProt/SwissProt for GALNTL5 Gene:

Q7Z4T8-GLTL5_HUMAN
Tissue specificity: Mainly expressed in testis. Weakly or not expressed in other tissues.

Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNTL5 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GALNTL5: view

No data available for Evidence on tissue expression from TISSUES for GALNTL5 Gene

Orthologs for GALNTL5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNTL5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GALNTL5 30 31
  • 98.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GALNTL5 30 31
  • 82.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GALNTL5 30 31
  • 80.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Galntl5 30
  • 75.1 (n)
Mouse
(Mus musculus)
Mammalia Galntl5 30 17 31
  • 75.04 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii CABZ01069344.1 31
  • 19 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Pgant35A 31
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gly-11 31
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5330 31
  • 26 (a)
ManyToMany
Species where no ortholog for GALNTL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for GALNTL5 Gene

ENSEMBL:
Gene Tree for GALNTL5 (if available)
TreeFam:
Gene Tree for GALNTL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALNTL5: view image

Paralogs for GALNTL5 Gene

(23) SIMAP similar genes for GALNTL5 Gene using alignment to 2 proteins:

  • GLTL5_HUMAN
  • D3DX14_HUMAN
genes like me logo Genes that share paralogs with GALNTL5: view

Variants for GALNTL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALNTL5 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709241 Benign: not provided 151,971,074(+) T/C INTRON_VARIANT
712688 Benign: not provided 151,983,045(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
712689 Benign: not provided 151,987,161(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
736061 Likely Benign: not provided 152,002,951(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
758261 Benign: not provided 151,971,066(+) G/C SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for GALNTL5 Gene

Structural Variations from Database of Genomic Variants (DGV) for GALNTL5 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
esv2174500 CNV deletion 18987734
esv2660963 CNV deletion 23128226
esv2735440 CNV deletion 23290073
esv2735441 CNV deletion 23290073
esv2735442 CNV deletion 23290073
esv3445 CNV loss 18987735
esv3542674 CNV deletion 23714750
esv3615496 CNV loss 21293372
nsv1020487 CNV gain 25217958
nsv1029778 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1076969 CNV deletion 25765185
nsv1124285 CNV deletion 24896259
nsv1148633 CNV deletion 26484159
nsv1151906 OTHER inversion 26484159
nsv523467 CNV loss 19592680
nsv609044 CNV gain 21841781
nsv958427 CNV deletion 24416366

Variation tolerance for GALNTL5 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.36; 88.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNTL5 Gene

Human Gene Mutation Database (HGMD)
GALNTL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNTL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNTL5 Gene

Disorders for GALNTL5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GALNTL5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
apical myocardial infarction
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLTL5_HUMAN
  • Note=Defects in GALNTL5 have been found in a patient with primary infertility due to asthenozoospermia. {ECO:0000269 PubMed:24398516}.
genes like me logo Genes that share disorders with GALNTL5: view

No data available for Genatlas for GALNTL5 Gene

Publications for GALNTL5 Gene

  1. A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility. (PMID: 24398516) Takasaki N … Narimatsu H (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4
  4. A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. (PMID: 28206990) Gershoni M … Kleiman SE (Genetics in medicine : official journal of the American College of Medical Genetics 2017) 4
  5. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. (PMID: 26598620) Dart AE … Wells CM (The Journal of cell biology 2015) 3

Products for GALNTL5 Gene

Sources for GALNTL5 Gene