Q9UHF3 (NAT8B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Alternative name(s):
Camello-like protein 2

Gene names

Name:	NAT8B
Synonyms:	CML2

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

General annotation (Comments)

Function	May play a role in regulation of gastrulation. Ref.1
Subcellular location	Membrane; Single-pass membrane protein Potential.
Polymorphism	A nonsense mutation transforms Ser-16 into a stop codon, giving rise to a truncated non-functional protein. A second nonsense mutation transforms Gln-168 into a stop codon, probably also producing a non-functional protein as the N-acetyltransferase domain is disrupted. Ref.2
Sequence similarities	Belongs to the camello family. Ref.1 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 Non-traceable author statement Ref.1. Source: UniProtKB
Cellular component	integral to membrane Non-traceable author statement Ref.1. Source: UniProtKB
Molecular function	N-acetyltransferase activity Non-traceable author statement Ref.1. 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 8B		PRO_0000284685
Regions
	Transmembrane	43 – 63	21	Helical; Potential
	Domain	61 – 214	154	N-acetyltransferase

Sequences

	Sequence		Length	Mass (Da)
	Q9UHF3 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: E45FBA89E1E03CB0	FASTA	227	25,366
	10 20 30 40 50 60 MAPYHIRKYQ ESDRKSVVGL LSGGMAEHAP ATFRRLLKLP RTLILLLGGA LALLLVSGSW 70 80 90 100 110 120 ILALVFSLSL LPALWFLAKK PWTRYVDIAL RTDMSDITKS YLSECGSCFW VAESEEKVVG 130 140 150 160 170 180 TVGALPVDDP TLREKRLQLF HLSVDNEHRG QGIAKALVRT VLQFARDQGY SEVVLDTSNI 190 200 210 220 QLSAMGLYQS LGFKKTGQSF FHVWARLVDL HTVHFIYHLP SAQAGRL

References

[1]	"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: 11397015] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Colon tumor.
[2]	"Human-specific nonsense mutations identified by genome sequence comparisons." Hahn Y., Lee B. Hum. Genet. 119:169-178(2006) [PubMed: 16395595] [Abstract] Cited for: POLYMORPHISM.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF185571 mRNA. Translation: AAF22299.1.
IPI	IPI00008889.
RefSeq	NP_057431.2. NM_016347.2.
UniGene	Hs.728429.
3D structure databases
ProteinModelPortal	Q9UHF3.
SMR	Q9UHF3. Positions 103-198.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UHF3. 1 interaction.
Polymorphism databases
DMDM	74720822.
Proteomic databases
PRIDE	Q9UHF3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	51471.
KEGG	hsa:51471.
Organism-specific databases
CTD	51471.
GeneCards	GC02M073928.
HGNC	HGNC:30235. NAT8B.
MIM	608190. gene.
neXtProt	NX_Q9UHF3.
PharmGKB	PA162396978.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG21002.
HOVERGEN	HBG060476.
Gene expression databases
Genevestigator	Q9UHF3.
Family and domain databases
InterPro	IPR000182. AcTrfase_GCN5-related_dom. IPR016181. Acyl_CoA_acyltransferase. [Graphical view]
Gene3D	G3DSA:3.40.630.30. Acyl_CoA_acyltransferase. 2 hits.
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
NextBio	55101.
SOURCE	Search...

Entry information

Entry name

NAT8B_HUMAN

Accession

Primary (citable) accession number: Q9UHF3
Secondary accession number(s): Q0VAD9, Q6NT18

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 67 of the entry and version 1 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.