Q9UHE5 (NAT8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable N-acetyltransferase 8
EC=2.3.1.-

Alternative name(s):
Camello-like protein 1

Gene names

Name:	NAT8
Synonyms:	CML1, GLA, TSC501

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	227 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in regulation of gastrulation. Ref.2
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Expression is restricted to liver and kidney. Ref.1
Sequence similarities	Belongs to the camello family. Ref.2 Contains 1 N-acetyltransferase domain.

Ontologies

Keywords
Biological process	Gastrulation
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Acyltransferase Developmental protein Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	gastrulation with mouth forming second Inferred from mutant phenotype Ref.2. Source: UniProtKB response to drug Traceable author statement Ref.1. Source: ProtInc
Cellular_component	integral to membrane Non-traceable author statement Ref.2. Source: UniProtKB
Molecular_function	N-acetyltransferase activity Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 227	227	Probable N-acetyltransferase 8		PRO_0000284684
Regions
	Transmembrane	43 – 63	21	Helical; Potential
	Transmembrane	64 – 84	21	Helical; Potential
	Transmembrane	200 – 220	21	Helical; Potential
	Domain	61 – 220	160	N-acetyltransferase
Natural variations
	Natural variant	104	1	E → K. Corresponds to variant rs13424561 [ dbSNP | Ensembl ].		VAR_053886
	Natural variant	143	1	F → S. Ref.2 Ref.3 Ref.4 Corresponds to variant rs13538 [ dbSNP | Ensembl ].		VAR_031805
Experimental info
	Sequence conflict	202	1	C → R in CAG28538. Ref.4
	Sequence conflict	212	1	T → K in BAA34386. Ref.3
	Sequence conflict	227	1	L → Q in AAH12626. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9UHE5 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: B6CEAC98EFB0D6C8	FASTA	227	25,619
	10 20 30 40 50 60 MAPCHIRKYQ ESDRQWVVGL LSRGMAEHAP ATFRQLLKLP RTLILLLGGP LALLLVSGSW 70 80 90 100 110 120 LLALVFSISL FPALWFLAKK PWTEYVDMTL CTDMSDITKS YLSERGSCFW VAESEEKVVG 130 140 150 160 170 180 MVGALPVDDP TLREKRLQLF HLFVDSEHRR QGIAKALVRT VLQFARDQGY SEVILDTGTI 190 200 210 220 QLSAMALYQS MGFKKTGQSF FCVWARLVAL HTVHFIYHLP SSKVGSL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferases." Ozaki K., Fujiwara T., Nakamura Y., Takahashi E. J. Hum. Genet. 43:255-258(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Kidney.
[2]	"Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis." Popsueva A.E., Luchinskaya N.N., Ludwig A.V., Zinovjeva O.Y., Poteryaev D.A., Feigelman M.M., Ponomarev M.B., Berekelya L., Belyavsky A.V. Dev. Biol. 234:483-496(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, VARIANT SER-143.
[3]	"GLA, a kidney specific membrane protein highly expressed in renal tubular cells; possible involvement in the chronic renal failure." Yamamoto H., Takahashi M., Yoshimoto M., Hara H., Kitamura K., Nakagawa J. Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-143.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-143.
[5]	"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]. Tissue: Kidney.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB013094 mRNA. Translation: BAA33679.1. AF187813 mRNA. Translation: AAF22303.1. AB019551 mRNA. Translation: BAA34386.1. CR407610 mRNA. Translation: CAG28538.1. BC012626 mRNA. Translation: AAH12626.1.
IPI	IPI00290475.
PIR	T44342.
RefSeq	NP_003951.3. NM_003960.3.
UniGene	Hs.14637.
3D structure databases
ProteinModelPortal	Q9UHE5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UHE5. 1 interaction.
STRING	9606.ENSP00000272425.
Polymorphism databases
DMDM	145566894.
Proteomic databases
PaxDb	Q9UHE5.
PRIDE	Q9UHE5.
Protocols and materials databases
DNASU	9027.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000272425; ENSP00000272425; ENSG00000144035.
GeneID	9027.
KEGG	hsa:9027.
UCSC	uc002sji.1. human.
Organism-specific databases
CTD	9027.
GeneCards	GC02M073779.
HGNC	HGNC:18069. NAT8.
HPA	CAB045990.
MIM	606716. gene.
neXtProt	NX_Q9UHE5.
PharmGKB	PA31450.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG236460.
HOGENOM	HOG000261685.
HOVERGEN	HBG060476.
InParanoid	Q9UHE5.
OMA	WVAESEE.
OrthoDB	EOG4V9TRN.
PhylomeDB	Q9UHE5.
Gene expression databases
Bgee	Q9UHE5.
CleanEx	HS_GLA. HS_NAT8.
Genevestigator	Q9UHE5.
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	9027.
NextBio	33825.
SOURCE	Search...

Entry information

Entry name

NAT8_HUMAN

Accession

Primary (citable) accession number: Q9UHE5
Secondary accession number(s): O75839 , Q6LEU4, Q96QI8, Q9UQ17

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	April 17, 2007
Last modified:	May 1, 2013
This is version 76 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.