Q93015 (NAT6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetyltransferase 6
EC=2.3.1.-

Alternative name(s):
Protein fusion-2
Short name=Protein fus-2

Gene names

Name:	NAT6
Synonyms:	FUS2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	286 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Seems to be involved in N-acetylation. Acts on peptides with a N-terminal Met followed by Asp/Glu/Asn. May act as a tumor suppressor. Ref.4
Subcellular location	Cytoplasm Ref.4.
Tissue specificity	Strongly expressed in heart and skeletal muscle, followed by brain and pancreas, with weak expression in kidney, liver, and lung and no expression in placenta.
Sequence similarities	Belongs to the acetyltransferase family. Contains 1 N-acetyltransferase domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Tumor suppressor
Molecular function	Acyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrion Inferred from direct assay. Source: HPA
Molecular_function	N-acetyltransferase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q93015-1)

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: Q93015-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQELTLSPGPAKLTPTLDPTHRM

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 286	286	N-acetyltransferase 6		PRO_0000074536
Regions
	Domain	60 – 207	148	N-acetyltransferase
Natural variations
	Alternative sequence	1	1	M → MQELTLSPGPAKLTPTLDPT HRM in isoform 2.		VSP_037187
	Natural variant	145	1	R → S in non-small cell lung cancer cell lines. Ref.5		VAR_014224
	Natural variant	207	1	T → S in non-small cell lung cancer cell lines. Ref.5		VAR_014225

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 1998. Version 2. Checksum: A755E2E3367625DB	FASTA	286	31,445
	10 20 30 40 50 60 MELILSTSPA ELTLDPACQP KLPLDSTCQP EMTFNPGPTE LTLDPEHQPE ETPAPSLAEL 70 80 90 100 110 120 TLEPVHRRPE LLDACADLIN DQWPRSRTSR LHSLGQSSDA FPLCLMLLSP HPTLEAAPVV 130 140 150 160 170 180 VGHARLSRVL NQPQSLLVET VVVARALRGR GFGRRLMEGL EVFARARGFR KLHLTTHDQV 190 200 210 220 230 240 HFYTHLGYQL GEPVQGLVFT SRRLPATLLN AFPTAPSPRP PRKAPNLTAQ AAPRGPKGPP 250 260 270 280 LPPPPPLPEC LTISPPVPSG PPSKSLLETQ YQNVRGRPIF WMEKDI
	Isoform 2 [UniParc]. Checksum: 09A5F1F976681DB5	FASTA	308	33,831
	10 20 30 40 50 60 MQELTLSPGP AKLTPTLDPT HRMELILSTS PAELTLDPAC QPKLPLDSTC QPEMTFNPGP 70 80 90 100 110 120 TELTLDPEHQ PEETPAPSLA ELTLEPVHRR PELLDACADL INDQWPRSRT SRLHSLGQSS 130 140 150 160 170 180 DAFPLCLMLL SPHPTLEAAP VVVGHARLSR VLNQPQSLLV ETVVVARALR GRGFGRRLME 190 200 210 220 230 240 GLEVFARARG FRKLHLTTHD QVHFYTHLGY QLGEPVQGLV FTSRRLPATL LNAFPTAPSP 250 260 270 280 290 300 RPPRKAPNLT AQAAPRGPKG PPLPPPPPLP ECLTISPPVP SGPPSKSLLE TQYQNVRGRP IFWMEKDI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Fong K., Zabarovsky E., Kashuba V., Kuzmin I., Latif F., Mele G., Sekido Y., Bader S., Duh F.-M., Wei M.-H., Lerman M.I., Minna J.D. Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Pancreas.
[4]	"The putative tumour suppressor Fus-2 is an N-acetyltransferase." Zegerman P., Bannister A.J., Kouzarides T. Oncogene 19:161-163(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[5]	"The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes." The international lung cancer chromosome 3p21.3 tumor suppressor gene consortium Lerman M.I., Minna J.D. Cancer Res. 60:6116-6133(2000) [PubMed] [Europe PMC] [Abstract] Cited for: DISCUSSION OF SEQUENCE, VARIANTS SER-145 AND SER-207.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF040706 mRNA. Translation: AAC70913.1. AF040705 mRNA. Translation: AAC70912.1. U73167 Genomic DNA. Translation: AAC02732.1. BC004483 mRNA. Translation: AAH04483.2.
IPI	IPI00016688. IPI00784611.
RefSeq	NP_001186945.1. NM_001200016.1. NP_001186947.1. NM_001200018.1. NP_036323.2. NM_012191.3.
UniGene	Hs.129910. Hs.736942.
3D structure databases
ProteinModelPortal	Q93015.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q93015. 1 interaction.
STRING	9606.ENSP00000346927.
PTM databases
PhosphoSite	Q93015.
Polymorphism databases
DMDM	25008833.
Proteomic databases
PaxDb	Q93015.
PRIDE	Q93015.
Protocols and materials databases
DNASU	24142.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000354862; ENSP00000346927; ENSG00000243477. ENST00000417393; ENSP00000391893; ENSG00000243477. ENST00000443094; ENSP00000410610; ENSG00000243477. ENST00000443842; ENSP00000400559; ENSG00000243477. ENST00000570345; ENSP00000459273; ENSG00000261871. ENST00000571097; ENSP00000458495; ENSG00000261871. ENST00000573208; ENSP00000459800; ENSG00000261871. ENST00000575928; ENSP00000458407; ENSG00000261871.
GeneID	24142.
KEGG	hsa:24142.
UCSC	uc003czi.3. human. uc003czj.3. human.
Organism-specific databases
CTD	24142.
GeneCards	GC03M050333.
HGNC	HGNC:30252. NAT6.
HPA	HPA039576.
MIM	607073. gene.
neXtProt	NX_Q93015.
PharmGKB	PA134979782.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG325811.
HOGENOM	HOG000113734.
HOVERGEN	HBG031735.
InParanoid	Q93015.
OMA	CRPELLD.
OrthoDB	EOG40ZQZJ.
Gene expression databases
ArrayExpress	Q93015.
Bgee	Q93015.
Genevestigator	Q93015.
GermOnline	ENSG00000186792. Homo sapiens.
Family and domain databases
Gene3D	3.40.630.30. 2 hits.
InterPro	IPR016181. Acyl_CoA_acyltransferase. IPR000182. GNAT_dom. [Graphical view]
Pfam	PF00583. Acetyltransf_1. 1 hit. [Graphical view]
SUPFAM	SSF55729. Acyl_CoA_acyltransferase. 1 hit.
PROSITE	PS51186. GNAT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	24142.
NextBio	46825.
SOURCE	Search...

Entry information

Entry name

NAT6_HUMAN

Accession

Primary (citable) accession number: Q93015
Secondary accession number(s): Q93014

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 8, 2002
Last sequence update:	June 1, 1998
Last modified:	May 1, 2013
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.