Reviewed,
UniProtKB/Swiss-Prot O95671 (ASML_HUMAN)
Last modified
June 16, 2009.
Version 73.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: N-acetylserotonin O-methyltransferase-like protein Short name=ASMTL | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 621 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity. |
| 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. |
| Miscellaneous | The gene encoding 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. |
| Sequence similarities | In the N-terminal section; belongs to the maf family. |
| Sequence caution | The sequence CAA75675.1 differs from that shown. Reason: Frameshift at position 616. The sequence CAA75676.1 differs from that shown. Reason: Frameshift at position 616. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| PTM | Phosphoprotein |
| Technical term | 3D-structure |
| Gene Ontology (GO) | |
| Biological process | melatonin biosynthetic process Ref.1 Traceable author statement. Source: UniProtKB |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA |
| Molecular function | acetylserotonin O-methyltransferase activity Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O95671-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: O95671-2) The sequence of this isoform differs from the canonical sequence as follows: 76-91: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 621 | 621 | N-acetylserotonin O-methyltransferase-like protein | PRO_0000064702 | ||||||||||||||||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||||||||||||||||
| Region | 11 – 223 | 213 | MAF-like | |||||||||||||||||||||||||||||||||||||||
| Region | 277 – 621 | 345 | ASMT-like | |||||||||||||||||||||||||||||||||||||||
Sites | ||||||||||||||||||||||||||||||||||||||||||
| Active site | 44 | 1 | Potential | |||||||||||||||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||||||||||||||
| Modified residue | 21 | 1 | Phosphoserine Ref.6 | |||||||||||||||||||||||||||||||||||||||
| Modified residue | 239 | 1 | Phosphoserine Ref.6 Ref.5 Ref.7 Ref.8 | |||||||||||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 76 – 91 | 16 | Missing in isoform 2. | VSP_007213 | ||||||||||||||||||||||||||||||||||||||
| Natural variant | 458 | 1 | V → M: dbSNP rs4503285. Ref.4 | VAR_054802 | ||||||||||||||||||||||||||||||||||||||
| Natural variant | 541 | 1 | R → K: dbSNP rs1127297. Ref.4 Ref.1 | VAR_054803 | ||||||||||||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||||||||||||
| Beta strand | 15 – 17 | 3 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 22 – 30 | 9 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 48 – 50 | 3 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 51 – 53 | 3 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 54 – 77 | 24 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 82 – 93 | 12 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 96 – 98 | 3 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 104 – 114 | 11 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 117 – 133 | 17 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 136 – 152 | 17 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 157 – 166 | 10 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 168 – 171 | 4 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 173 – 175 | 3 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 178 – 180 | 3 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 181 – 184 | 4 | ||||||||||||||||||||||||||||||||||||||||
| Beta strand | 186 – 191 | 6 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 193 – 197 | 5 | ||||||||||||||||||||||||||||||||||||||||
| Helix | 201 – 212 | 12 | ||||||||||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL." Ried K., Rao E., Schiebel K., Rappold G.A. Hum. Mol. Genet. 7:1771-1778(1998) [PubMed: 9736779] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LYS-541. Tissue: Bone marrow, Colon, Fetal brain, Pancreas and Placenta. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Adrenal gland. |
| [3] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS MET-458 AND LYS-541. Tissue: Colon adenocarcinoma. |
| [5] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-239, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-21 AND SER-239, MASS SPECTROMETRY. |
| [7] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-239, MASS SPECTROMETRY. |
| [8] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-239, MASS SPECTROMETRY. Tissue: Liver. |
| [9] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [10] | "Crystal structure of maf domain of human N-acetylserotonin O-methyltransferase-like protein." Structural genomics consortium (SGC) Submitted (MAR-2007) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 10-239. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y15521 Genomic DNA. Translation: CAA75675.1. Frameshift. Y15521 Genomic DNA. Translation: CAA75676.1. Frameshift. AK090498 mRNA. Translation: BAC03468.1. AL683870 Genomic DNA. Translation: CAI39847.1. BC002508 mRNA. Translation: AAH02508.1. BC010089 mRNA. Translation: AAH10089.1. | |||||||||||||
| IPI | IPI00249080. IPI00479385. | ||||||||||||
| RefSeq | NP_004183.2. | ||||||||||||
| UniGene | Hs.533514 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | O95671. 2 interactions. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O95671. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | O95671. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000169093. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 8623. | ||||||||||||
| KEGG | hsa:8623. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC0XM001565. | ||||||||||||
| H-InvDB | HIX0016625. HIX0023058. | ||||||||||||
| HGNC | HGNC:751. ASMTL. | ||||||||||||
| HPA | HPA003630. | ||||||||||||
| MIM | 300162. gene. 400011. gene. | ||||||||||||
| PharmGKB | PA25050. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | O95671. | ||||||||||||
| OMA | O95671. PSWFKET. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O95671. | ||||||||||||
| Bgee | O95671. | ||||||||||||
| CleanEx | HS_ASMTL. | ||||||||||||
| GermOnline | ENSG00000169093. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR003697. Maf. IPR001077. O_MeTrfase_2. [Graphical view] | ||||||||||||
| Pfam | PF02545. Maf. 1 hit. PF00891. Methyltransf_2. 1 hit. [Graphical view] | ||||||||||||
| TIGRFAMs | TIGR00172. maf. 1 hit. | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 32321. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | ASML_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95671 Secondary accession number(s): Q5JQ53 Q9BUL6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


