Reviewed, UniProtKB/Swiss-Prot O95671 (ASML_HUMAN)

Names and origin

Protein names

Recommended name:
    N-acetylserotonin O-methyltransferase-like protein
      Short name=ASMTL

Gene names

Name:

ASMTL

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

1

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621

Helix Strand Turn

Details...

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

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 3, 2006. Version 3. Checksum: 564C2D538F4919EC	FASTA	621	68,857
	10 20 30 40 50 60 MVLCPVIGKL LHKRVVLASA SPRRQEILSN AGLRFEVVPS KFKEKLDKAS FATPYGYAME 70 80 90 100 110 120 TAKQKALEVA NRLYQKDLRA PDVVIGADTI VTVGGLILEK PVDKQDAYRM LSRLSGREHS 130 140 150 160 170 180 VFTGVAIVHC SSKDHQLDTR VSEFYEETKV KFSELSEELL WEYVHSGEPM DKAGGYGIQA 190 200 210 220 230 240 LGGMLVESVH GDFLNVVGFP LNHFCKQLVK LYYPPRPEDL RRSVKHDSIP AADTFEDLSD 250 260 270 280 290 300 VEGGGSEPTQ RDAGSRDEKA EAGEAGQATA EAECHRTRET LPPFPTRLLE LIEGFMLSKG 310 320 330 340 350 360 LLTACKLKVF DLLKDEAPQK AADIASKVDA SACGMERLLD ICAAMGLLEK TEQGYSNTET 370 380 390 400 410 420 ANVYLASDGE YSLHGFIMHN NDLTWNLFTY LEFAIREGTN QHHRALGKKA EDLFQDAYYQ 430 440 450 460 470 480 SPETRLRFMR AMHGMTKLTA CQVATAFNLS RFSSACDVGG CTGALARELA REYPRMQVTV 490 500 510 520 530 540 FDLPDIIELA AHFQPPGPQA VQIHFAAGDF FRDPLPSAEL YVLCRILHDW PDDKVHKLLS 550 560 570 580 590 600 RVAESCKPGA GLLLVETLLD EEKRVAQRAL MQSLNMLVQT EGKERSLGEY QCLLELHGFH 610 620 QVQVVHLGGV LDAILATKVA P
	Isoform 2. Checksum: 68D9C963275E9A36	FASTA	605	67,193
	10 20 30 40 50 60 MVLCPVIGKL LHKRVVLASA SPRRQEILSN AGLRFEVVPS KFKEKLDKAS FATPYGYAME 70 80 90 100 110 120 TAKQKALEVA NRLYQTVGGL ILEKPVDKQD AYRMLSRLSG REHSVFTGVA IVHCSSKDHQ 130 140 150 160 170 180 LDTRVSEFYE ETKVKFSELS EELLWEYVHS GEPMDKAGGY GIQALGGMLV ESVHGDFLNV 190 200 210 220 230 240 VGFPLNHFCK QLVKLYYPPR PEDLRRSVKH DSIPAADTFE DLSDVEGGGS EPTQRDAGSR 250 260 270 280 290 300 DEKAEAGEAG QATAEAECHR TRETLPPFPT RLLELIEGFM LSKGLLTACK LKVFDLLKDE 310 320 330 340 350 360 APQKAADIAS KVDASACGME RLLDICAAMG LLEKTEQGYS NTETANVYLA SDGEYSLHGF 370 380 390 400 410 420 IMHNNDLTWN LFTYLEFAIR EGTNQHHRAL GKKAEDLFQD AYYQSPETRL RFMRAMHGMT 430 440 450 460 470 480 KLTACQVATA FNLSRFSSAC DVGGCTGALA RELAREYPRM QVTVFDLPDI IELAAHFQPP 490 500 510 520 530 540 GPQAVQIHFA AGDFFRDPLP SAELYVLCRI LHDWPDDKVH KLLSRVAESC KPGAGLLLVE 550 560 570 580 590 600 TLLDEEKRVA QRALMQSLNM LVQTEGKERS LGEYQCLLEL HGFHQVQVVH LGGVLDAILA TKVAP

References

	« Hide 'large scale' referencesShow '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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., 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

EMBLGenBankDDBJ

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

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2P5X	X-ray	2.00	A/B	10-239	[»]

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 , Q8NBH5, Q96G02, Q9BUL6

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 23, 2003
Last sequence update:	October 3, 2006
Last modified:	June 16, 2009
This is version 73 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)