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Aliases for ASMTL Gene

Aliases for ASMTL Gene

  • Acetylserotonin O-Methyltransferase Like 2 3
  • N-Acetylserotonin O-Methyltransferase-Like Protein 3
  • Acetylserotonin N-Methyltransferase-Like 3
  • Acetylserotonin O-Methyltransferase-Like 5
  • EC 2.1.1.- 4
  • ASMTLX 3
  • ASMTLY 3
  • ASTML 3

External Ids for ASMTL Gene

Previous GeneCards Identifiers for ASMTL Gene

  • GC0XM000997
  • GC0XM000838
  • GC0XM001102
  • GC0XM001167
  • GC0YM001565
  • GC0XM001565
  • GC0XM001482
  • GC0XM001522

Summaries for ASMTL Gene

Entrez Gene Summary for ASMTL Gene

  • The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for ASMTL Gene

ASMTL (Acetylserotonin O-Methyltransferase Like) is a Protein Coding gene. GO annotations related to this gene include O-methyltransferase activity. An important paralog of this gene is ASMT.

UniProtKB/Swiss-Prot for ASMTL Gene

  • Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity.

Gene Wiki entry for ASMTL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASMTL Gene

Genomics for ASMTL Gene

Regulatory Elements for ASMTL Gene

Enhancers for ASMTL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG001471 1.5 FANTOM5 Ensembl dbSUPER 9 -18.2 -18206 0.8 HDGF ATF1 ARID4B DMAP1 YY1 GLIS2 ELK1 SP3 JUNB TBX21 P2RY8 AKAP17A ASMTL ASMT CSF2RA
GH0XG001480 1.6 FANTOM5 Ensembl dbSUPER 5.7 -27.9 -27907 1.8 HDGF PKNOX1 FOXA2 WRNIP1 ARID4B DMAP1 ZNF766 ZNF143 ZHX2 JUNB CSF2RA P2RY8 ASMTL AKAP17A ASMT IL3RA SLC25A6
GH0XG001500 1.5 FANTOM5 Ensembl dbSUPER 5.9 -49.3 -49306 5.0 HDGF PKNOX1 ATF1 CREB3L1 ZNF48 ZNF121 ZNF766 GATA2 ELK1 ZNF207 P2RY8 AKAP17A CSF2RA IL3RA ASMTL ASMT CRLF2 SLC25A6
GH0XG001247 1.2 FANTOM5 Ensembl 5.7 +204.6 204611 2.4 TBP ETS1 ZNF121 ZNF366 FOS ETV6 USF2 REST NR2F2 RAD51 CSF2RA IL3RA ASMTL AKAP17A CRLF2 ASMT P2RY8 SLC25A6
GH0XG001239 1.1 FANTOM5 Ensembl 5.7 +213.9 213895 1.0 TBL1XR1 BACH1 POLR3A EED RELB IKZF2 CREM EZH2 MTA2 NR2F1 CSF2RA IL3RA ASMTL AKAP17A CRLF2 ASMT SLC25A6 P2RY8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASMTL on UCSC Golden Path with GeneCards custom track

Promoters for ASMTL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243762 595 2401 HDGF PKNOX1 ARID4B SIN3A BRCA1 ZNF48 ZBTB7B YY1 TCF12 GLIS2

Genomic Location for ASMTL Gene

Chromosome:
X
Start:
1,403,139 bp from pter
End:
1,453,795 bp from pter
Size:
50,657 bases
Orientation:
Minus strand

Genomic View for ASMTL Gene

Genes around ASMTL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ASMTL Gene

Proteins for ASMTL Gene

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

    Protein Symbol:
    O95671-ASML_HUMAN
    Recommended name:
    N-acetylserotonin O-methyltransferase-like protein
    Protein Accession:
    O95671
    Secondary Accessions:
    • B4DX75
    • F5GXH4
    • J3JS33
    • Q5JQ53
    • Q8NBH5
    • Q96G02
    • Q9BUL6

    Protein attributes for ASMTL Gene

    Size:
    621 amino acids
    Molecular mass:
    68857 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It represents a unique fusion product of 2 different genes of different evolutionary origin and function. The N-terminus is homologous to the bacterial maf/orfE genes and the C-terminus is homologous to ASMT. Exon duplication, exon shuffling and gene fusion seem to be common characteristics of the PAR1 region.
    SequenceCaution:
    • Sequence=CAA75675.1; Type=Frameshift; Positions=616; Evidence={ECO:0000305}; Sequence=CAA75676.1; Type=Frameshift; Positions=616; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASMTL Gene

    Alternative splice isoforms for ASMTL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASMTL Gene

Post-translational modifications for ASMTL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASMTL Gene

Domains & Families for ASMTL Gene

Suggested Antigen Peptide Sequences for ASMTL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95671

UniProtKB/Swiss-Prot:

ASML_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
  • In the N-terminal section; belongs to the maf family.
genes like me logo Genes that share domains with ASMTL: view

Function for ASMTL Gene

Molecular function for ASMTL Gene

GENATLAS Biochemistry:
acetylserotonin methyltransferase-like due to a unique fusion product of two genes of different evolutionary origin and function,(see ASMTLY)
UniProtKB/Swiss-Prot Function:
Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity.

Enzyme Numbers (IUBMB) for ASMTL Gene

Gene Ontology (GO) - Molecular Function for ASMTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
GO:0008168 methyltransferase activity IEA --
GO:0008171 O-methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ASMTL: view
genes like me logo Genes that share phenotypes with ASMTL: view

Animal Model Products

miRNA for ASMTL Gene

miRTarBase miRNAs that target ASMTL

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASMTL Gene

Localization for ASMTL Gene

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 ASMTL gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for ASMTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ASMTL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASMTL Gene

Pathways & Interactions for ASMTL Gene

SuperPathways for ASMTL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASMTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with ASMTL: view

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

Drugs & Compounds for ASMTL Gene

(1) Drugs for ASMTL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
genes like me logo Genes that share compounds with ASMTL: view

Transcripts for ASMTL Gene

Unigene Clusters for ASMTL Gene

Acetylserotonin O-methyltransferase-like:
Representative Sequences:

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: -
SP3:
SP4: - - - - -
SP5:
SP6: -
SP7:

Relevant External Links for ASMTL Gene

GeneLoc Exon Structure for
ASMTL
ECgene alternative splicing isoforms for
ASMTL

Expression for ASMTL Gene

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

Protein differential expression in normal tissues from HIPED for ASMTL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.5).

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



Protein tissue co-expression partners for ASMTL Gene

NURSA nuclear receptor signaling pathways regulating expression of ASMTL Gene:

ASMTL

SOURCE GeneReport for Unigene cluster for ASMTL Gene:

Hs.533514

mRNA Expression by UniProt/SwissProt for ASMTL Gene:

O95671-ASML_HUMAN
Tissue specificity: Widely expressed. In adult, highly expressed in pancreas, placenta, fibroblast, thymus, prostate, testis, ovary and colon. Expressed at lower levels in spleen, small intestine and leukocytes. In fetus, expressed at high levels in the lung and kidney and at lower level in brain and liver.

Evidence on tissue expression from TISSUES for ASMTL Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Adrenal gland(4.2)
  • Bone marrow(4.2)
  • Intestine(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with ASMTL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASMTL Gene

Orthologs for ASMTL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ASMTL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASMTL 34 35
  • 97.74 (n)
dog
(Canis familiaris)
Mammalia ASMTL 34 35
  • 75.06 (n)
cow
(Bos Taurus)
Mammalia ASMTL 34 35
  • 71.73 (n)
oppossum
(Monodelphis domestica)
Mammalia ASMTL 35
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asmtl 34
  • 58.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ASMTL 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASMTL 34 35
  • 63.19 (n)
lizard
(Anolis carolinensis)
Reptilia ASMTL 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asmtl 34
  • 59.38 (n)
Str.17108 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.25671 34
zebrafish
(Danio rerio)
Actinopterygii asmtl 34 35
  • 58.21 (n)
wufc48g07 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008707 34
  • 52.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9515 34 35
  • 46.8 (n)
worm
(Caenorhabditis elegans)
Secernentea dod-18 35 34
  • 45.34 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL225W 34
  • 50.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOR111W 34
  • 48.5 (n)
-- 35
  • 12 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23628g 34
  • 46.47 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03130 34
  • 54.17 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3G6.03c 34
  • 46.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
Species where no ortholog for ASMTL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • 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 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)

Evolution for ASMTL Gene

ENSEMBL:
Gene Tree for ASMTL (if available)
TreeFam:
Gene Tree for ASMTL (if available)

Paralogs for ASMTL Gene

Paralogs for ASMTL Gene

(1) SIMAP similar genes for ASMTL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ASMTL: view

Variants for ASMTL Gene

Sequence variations from dbSNP and Humsavar for ASMTL Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs111066028 -- 1,407,046(+) GGTAG(A/G)TGGAT intron-variant
rs111066034 -- 1,424,402(+) CATCC(A/G)TCTAT intron-variant
rs111161743 -- 1,406,777(+) AGATA(C/G)ATGGA intron-variant
rs111161744 -- 1,406,789(+) GCATG(C/G)ATGAG intron-variant
rs111161745 -- 1,406,818(+) AGATA(A/G)TAGAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1299e201 CNV deletion 23290073
dgv1301e201 CNV deletion 23290073
dgv1302e201 CNV deletion 23290073
dgv4562e59 CNV duplication 20981092
dgv4563e59 CNV duplication 20981092
esv1981196 CNV deletion 18987734
esv2196117 CNV deletion 18987734
esv2246827 CNV deletion 18987734
esv2666429 CNV deletion 23128226
esv2666911 CNV deletion 23128226
esv2667783 CNV deletion 23128226
esv2669866 CNV deletion 23128226
esv2678263 CNV deletion 23128226
esv2739698 CNV deletion 23290073
esv2739703 CNV deletion 23290073
esv2739704 CNV deletion 23290073
esv2739705 CNV deletion 23290073
esv2739706 CNV deletion 23290073
esv2739708 CNV deletion 23290073
esv2739709 CNV deletion 23290073
esv2739710 CNV deletion 23290073
esv2739712 CNV deletion 23290073
esv2739714 CNV deletion 23290073
esv2739716 CNV deletion 23290073
esv2739719 CNV deletion 23290073
esv2739720 CNV deletion 23290073
esv29996 CNV loss 17803354
esv3326708 CNV duplication 20981092
esv3558484 CNV deletion 23714750
esv3558485 CNV deletion 23714750
nsv1075349 CNV deletion 25765185
nsv1076695 CNV duplication 25765185
nsv1077213 CNV deletion 25765185
nsv1078145 CNV duplication 25765185
nsv1078699 CNV duplication 25765185
nsv1115920 CNV duplication 24896259
nsv1119323 CNV duplication 24896259
nsv1119379 CNV duplication 24896259
nsv1126960 CNV deletion 24896259
nsv1129113 CNV duplication 24896259
nsv1141658 CNV duplication 24896259
nsv1144311 CNV deletion 24896259
nsv1146220 CNV duplication 26484159
nsv1152597 CNV duplication 26484159
nsv1152984 CNV duplication 26484159
nsv953723 CNV deletion 24416366

Variation tolerance for ASMTL Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.35; 88.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASMTL Gene

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

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

Disorders for ASMTL Gene

Relevant External Links for ASMTL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASMTL

No disorders were found for ASMTL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASMTL Gene

Publications for ASMTL Gene

  1. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. (PMID: 9736779) Ried K. … Rappold G.A. (Hum. Mol. Genet. 1998) 2 3 4 22 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for ASMTL Gene

Sources for ASMTL Gene

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