ASMTL acetylserotonin O-methyltransferase like [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASMTLprovided by HGNC
Official Full Name: acetylserotonin O-methyltransferase likeprovided by HGNC
Primary source: HGNC:HGNC:751
See related: Ensembl:ENSG00000169093 Ensembl:ENSG00000292339 MIM:300162; MIM:400011; AllianceGenome:HGNC:751
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASTML; ASMTLX; ASMTLY
Summary: 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]
Expression: Ubiquitous expression in ovary (RPKM 11.8), prostate (RPKM 10.4) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: X;Y

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (1403139..1453756, complement)
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (1403139..1453756, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (1246707..1338509, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (1266964..1401516, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (1522032..1572649, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (1472032..1522649, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66350 (e-PCR)
- UniSTS:84281

STS-F04211 (e-PCR)
- UniSTS:26614

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 8-oxo-(d)RTP hydrolase activity	IEA Inferred from Electronic Annotation more info
enables O-methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables UTP diphosphatase activity	IEA Inferred from Electronic Annotation more info
enables dTTP diphosphatase activity	IEA Inferred from Electronic Annotation more info
enables nucleoside triphosphate diphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in nucleotide metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein

Names: N-acetylserotonin O-methyltransferase-like protein; acetylserotonin N-methyltransferase-like

NP_001166944.1

EC 3.6.1.9

NP_001166945.1

EC 3.6.1.9

NP_001411122.1

EC 3.6.1.9

NP_001411123.1

EC 3.6.1.9

NP_004183.2

EC 3.6.1.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016772.1 RefSeqGene

Range

5854..55624

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001173473.2 → NP_001166944.1 probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AK225770, AK301844, BM129217, BU688748, DA904467

Consensus CDS

CCDS55362.1

UniProtKB/TrEMBL

B4DRF1

Related

ENSP00000446410.1, ENSP00000518598.1, ENST00000534940.6, ENST00000711192.1

Conserved Domains (3) summary

cd00555
Location:1 → 150

Maf; Nucleotide binding protein Maf. Maf has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea, but homologs in B.subtilis and S.cerevisiae are nonessential for cell division. Maf has been predicted to be a nucleotide- or ...

pfam16864
Location:229 → 313

Dimerisation2; Dimerization domain

cl17173
Location:330 → 546

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001173474.2 → NP_001166945.1 probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 3

See identical proteins and their annotated locations for NP_001166945.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK090498, AK225770, AK301844, BM129217, BU688748

Consensus CDS

CCDS55363.1

UniProtKB/TrEMBL

B3KM43

Related

ENSP00000370734.4, ENSP00000518599.1, ENST00000381333.9, ENST00000711196.1

Conserved Domains (3) summary

cd00555
Location:15 → 192

Maf; Nucleotide binding protein Maf. Maf has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea, but homologs in B.subtilis and S.cerevisiae are nonessential for cell division. Maf has been predicted to be a nucleotide- or ...

pfam16864
Location:271 → 355

Dimerisation2; Dimerization domain

cl17173
Location:372 → 588

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001424193.1 → NP_001411122.1 probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 1

Status: REVIEWED

Source sequence(s)

CP068255

UniProtKB/Swiss-Prot

B4DX75, F5GXH4, J3JS33, O95671, Q5JQ53, Q8NBH5, Q96G02, Q9BUL6

UniProtKB/TrEMBL

B3KM43
NM_001424194.1 → NP_001411123.1 probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 2

Status: REVIEWED

Source sequence(s)

CP068255

UniProtKB/TrEMBL

B4DRF1
NM_004192.4 → NP_004183.2 probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 1

See identical proteins and their annotated locations for NP_004183.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1)

Source sequence(s)

AK001090, AK225770, AK301844, BM129217, BU688748, DA005122

Consensus CDS

CCDS43917.1

UniProtKB/Swiss-Prot

B4DX75, F5GXH4, J3JS33, O95671, Q5JQ53, Q8NBH5, Q96G02, Q9BUL6

UniProtKB/TrEMBL

B3KM43

Related

ENSP00000370718.3, ENSP00000518600.1, ENST00000381317.9, ENST00000711197.1

Conserved Domains (3) summary

cd00555
Location:15 → 208

Maf; Nucleotide binding protein Maf. Maf has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea, but homologs in B.subtilis and S.cerevisiae are nonessential for cell division. Maf has been predicted to be a nucleotide- or ...

pfam16864
Location:287 → 371

dimerization2; dimerization domain

cl17173
Location:388 → 599

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...