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Q9UHE5

- NAT8_HUMAN

UniProt

Q9UHE5 - NAT8_HUMAN

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Protein

Probable N-acetyltransferase 8

Gene
NAT8, CML1, GLA, TSC501
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Plays a role in regulation of gastrulation.1 Publication

GO - Molecular functioni

  1. N-acetyltransferase activity Source: UniProtKB

GO - Biological processi

  1. gastrulation with mouth forming second Source: UniProtKB
  2. metabolic process Source: GOC
  3. response to drug Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Developmental protein, Transferase

Keywords - Biological processi

Gastrulation

Names & Taxonomyi

Protein namesi
Recommended name:
Probable N-acetyltransferase 8 (EC:2.3.1.-)
Alternative name(s):
Camello-like protein 1
Gene namesi
Name:NAT8
Synonyms:CML1, GLA, TSC501
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:18069. NAT8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei43 – 6321Helical; Reviewed predictionAdd
BLAST
Transmembranei64 – 8421Helical; Reviewed predictionAdd
BLAST
Transmembranei200 – 22021Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31450.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 227227Probable N-acetyltransferase 8PRO_0000284684Add
BLAST

Proteomic databases

MaxQBiQ9UHE5.
PaxDbiQ9UHE5.
PRIDEiQ9UHE5.

Expressioni

Tissue specificityi

Expression is restricted to liver and kidney.1 Publication

Gene expression databases

BgeeiQ9UHE5.
CleanExiHS_GLA.
HS_NAT8.
GenevestigatoriQ9UHE5.

Organism-specific databases

HPAiCAB045990.

Interactioni

Protein-protein interaction databases

IntActiQ9UHE5. 1 interaction.
STRINGi9606.ENSP00000272425.

Structurei

3D structure databases

ProteinModelPortaliQ9UHE5.
SMRiQ9UHE5. Positions 86-195.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini61 – 220160N-acetyltransferaseAdd
BLAST

Sequence similaritiesi

Belongs to the camello family.1 Publication

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG236460.
HOGENOMiHOG000261685.
HOVERGENiHBG060476.
InParanoidiQ9UHE5.
OMAiWFLAKKP.
OrthoDBiEOG73Z2W2.
PhylomeDBiQ9UHE5.
TreeFamiTF324687.

Family and domain databases

Gene3Di3.40.630.30. 2 hits.
InterProiIPR016181. Acyl_CoA_acyltransferase.
IPR000182. GNAT_dom.
[Graphical view]
PfamiPF00583. Acetyltransf_1. 1 hit.
[Graphical view]
SUPFAMiSSF55729. SSF55729. 1 hit.
PROSITEiPS51186. GNAT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UHE5-1 [UniParc]FASTAAdd to Basket

« Hide

MAPCHIRKYQ ESDRQWVVGL LSRGMAEHAP ATFRQLLKLP RTLILLLGGP    50
LALLLVSGSW LLALVFSISL FPALWFLAKK PWTEYVDMTL CTDMSDITKS 100
YLSERGSCFW VAESEEKVVG MVGALPVDDP TLREKRLQLF HLFVDSEHRR 150
QGIAKALVRT VLQFARDQGY SEVILDTGTI QLSAMALYQS MGFKKTGQSF 200
FCVWARLVAL HTVHFIYHLP SSKVGSL 227
Length:227
Mass (Da):25,619
Last modified:April 17, 2007 - v2
Checksum:iB6CEAC98EFB0D6C8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041E → K.
Corresponds to variant rs13424561 [ dbSNP | Ensembl ].
VAR_053886
Natural varianti143 – 1431F → S.3 Publications
Corresponds to variant rs13538 [ dbSNP | Ensembl ].
VAR_031805

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti202 – 2021C → R in CAG28538. 1 Publication
Sequence conflicti212 – 2121T → K in BAA34386. 1 Publication
Sequence conflicti227 – 2271L → Q in AAH12626. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1926.1.
PIRiT44342.
RefSeqiNP_003951.3. NM_003960.3.
UniGeneiHs.14637.

Genome annotation databases

EnsembliENST00000272425; ENSP00000272425; ENSG00000144035.
GeneIDi9027.
KEGGihsa:9027.
UCSCiuc002sji.1. human.

Polymorphism databases

DMDMi145566894.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1926.1.
PIRi T44342.
RefSeqi NP_003951.3. NM_003960.3.
UniGenei Hs.14637.

3D structure databases

ProteinModelPortali Q9UHE5.
SMRi Q9UHE5. Positions 86-195.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q9UHE5. 1 interaction.
STRINGi 9606.ENSP00000272425.

Polymorphism databases

DMDMi 145566894.

Proteomic databases

MaxQBi Q9UHE5.
PaxDbi Q9UHE5.
PRIDEi Q9UHE5.

Protocols and materials databases

DNASUi 9027.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000272425 ; ENSP00000272425 ; ENSG00000144035 .
GeneIDi 9027.
KEGGi hsa:9027.
UCSCi uc002sji.1. human.

Organism-specific databases

CTDi 9027.
GeneCardsi GC02M073779.
HGNCi HGNC:18069. NAT8.
HPAi CAB045990.
MIMi 606716. gene.
neXtProti NX_Q9UHE5.
PharmGKBi PA31450.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG236460.
HOGENOMi HOG000261685.
HOVERGENi HBG060476.
InParanoidi Q9UHE5.
OMAi WFLAKKP.
OrthoDBi EOG73Z2W2.
PhylomeDBi Q9UHE5.
TreeFami TF324687.

Miscellaneous databases

GeneWikii NAT8.
GenomeRNAii 9027.
NextBioi 33825.
PROi Q9UHE5.
SOURCEi Search...

Gene expression databases

Bgeei Q9UHE5.
CleanExi HS_GLA.
HS_NAT8.
Genevestigatori Q9UHE5.

Family and domain databases

Gene3Di 3.40.630.30. 2 hits.
InterProi IPR016181. Acyl_CoA_acyltransferase.
IPR000182. GNAT_dom.
[Graphical view ]
Pfami PF00583. Acetyltransf_1. 1 hit.
[Graphical view ]
SUPFAMi SSF55729. SSF55729. 1 hit.
PROSITEi PS51186. GNAT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiNAT8_HUMAN
AccessioniPrimary (citable) accession number: Q9UHE5
Secondary accession number(s): O75839
, Q6LEU4, Q96QI8, Q9UQ17
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: April 17, 2007
Last modified: September 3, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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