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Q9UHE5 (NAT8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable N-acetyltransferase 8

EC=2.3.1.-
Alternative name(s):
Camello-like protein 1
Gene names
Name:NAT8
Synonyms:CML1, GLA, TSC501
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length227 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processGastrulation
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionAcyltransferase
Developmental protein
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processgastrulation with mouth forming second

Inferred from mutant phenotype Ref.2. Source: UniProtKB

metabolic process

Non-traceable author statement Ref.2. Source: GOC

response to drug

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentintegral component of membrane

Non-traceable author statement Ref.2. Source: UniProtKB

   Molecular_functionN-acetyltransferase activity

Non-traceable author statement Ref.2. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 227227Probable N-acetyltransferase 8
PRO_0000284684

Regions

Transmembrane43 – 6321Helical; Potential
Transmembrane64 – 8421Helical; Potential
Transmembrane200 – 22021Helical; Potential
Domain61 – 220160N-acetyltransferase

Natural variations

Natural variant1041E → K.
Corresponds to variant rs13424561 [ dbSNP | Ensembl ].
VAR_053886
Natural variant1431F → S. Ref.2 Ref.3 Ref.4
Corresponds to variant rs13538 [ dbSNP | Ensembl ].
VAR_031805

Experimental info

Sequence conflict2021C → R in CAG28538. Ref.4
Sequence conflict2121T → K in BAA34386. Ref.3
Sequence conflict2271L → Q in AAH12626. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q9UHE5 [UniParc].

Last modified April 17, 2007. Version 2.
Checksum: B6CEAC98EFB0D6C8

FASTA22725,619
        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 

« Hide

References

« Hide '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.
CCDSCCDS1926.1.
PIRT44342.
RefSeqNP_003951.3. NM_003960.3.
UniGeneHs.14637.

3D structure databases

ProteinModelPortalQ9UHE5.
SMRQ9UHE5. Positions 86-195.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9UHE5. 1 interaction.
STRING9606.ENSP00000272425.

Polymorphism databases

DMDM145566894.

Proteomic databases

MaxQBQ9UHE5.
PaxDbQ9UHE5.
PRIDEQ9UHE5.

Protocols and materials databases

DNASU9027.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272425; ENSP00000272425; ENSG00000144035.
GeneID9027.
KEGGhsa:9027.
UCSCuc002sji.1. human.

Organism-specific databases

CTD9027.
GeneCardsGC02M073779.
HGNCHGNC:18069. NAT8.
HPACAB045990.
MIM606716. gene.
neXtProtNX_Q9UHE5.
PharmGKBPA31450.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236460.
HOGENOMHOG000261685.
HOVERGENHBG060476.
InParanoidQ9UHE5.
OMAWFLAKKP.
OrthoDBEOG73Z2W2.
PhylomeDBQ9UHE5.
TreeFamTF324687.

Gene expression databases

BgeeQ9UHE5.
CleanExHS_GLA.
HS_NAT8.
GenevestigatorQ9UHE5.

Family and domain databases

Gene3D3.40.630.30. 2 hits.
InterProIPR016181. Acyl_CoA_acyltransferase.
IPR000182. GNAT_dom.
[Graphical view]
PfamPF00583. Acetyltransf_1. 1 hit.
[Graphical view]
SUPFAMSSF55729. SSF55729. 1 hit.
PROSITEPS51186. GNAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNAT8.
GenomeRNAi9027.
NextBio33825.
PROQ9UHE5.
SOURCESearch...

Entry information

Entry nameNAT8_HUMAN
AccessionPrimary (citable) accession number: Q9UHE5
Secondary accession number(s): O75839 expand/collapse secondary AC list , Q6LEU4, Q96QI8, Q9UQ17
Entry history
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: July 9, 2014
This is version 84 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM