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Entry version 150 (02 Jun 2021)
Sequence version 1 (07 Dec 2004)
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Protein

Protein-cysteine N-palmitoyltransferase HHAT

Gene

HHAT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling. May bind GTP.

By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei379Sequence analysis1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Developmental protein, Transferase
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5VTY9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5358346, Hedgehog ligand biogenesis
R-HSA-5658034, HHAT G278V doesn't palmitoylate Hh-Np

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q5VTY9

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q5VTY9

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.50.1.4, the glycerol uptake (gup) or membrane-bound acyl transfeerase (mboat) family

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001949

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein-cysteine N-palmitoyltransferase HHAT (EC:2.3.1.-)
Alternative name(s):
Hedgehog acyltransferase
Melanoma antigen recognized by T-cells 2
Short name:
MART-2
Skinny hedgehog protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HHAT
Synonyms:MART2, SKI1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18270, HHAT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605743, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5VTY9

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000054392.12

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 5CytoplasmicSequence analysis5
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei6 – 22HelicalSequence analysisAdd BLAST17
Topological domaini23 – 67LumenalSequence analysisAdd BLAST45
Transmembranei68 – 84HelicalSequence analysisAdd BLAST17
Topological domaini85 – 94CytoplasmicSequence analysis10
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei95 – 119Sequence analysisAdd BLAST25
Topological domaini120 – 131CytoplasmicSequence analysisAdd BLAST12
Transmembranei132 – 148HelicalSequence analysisAdd BLAST17
Topological domaini149 – 162LumenalSequence analysisAdd BLAST14
Transmembranei163 – 183HelicalSequence analysisAdd BLAST21
Topological domaini184 – 202CytoplasmicSequence analysisAdd BLAST19
Intramembranei203 – 217Sequence analysisAdd BLAST15
Topological domaini218 – 243CytoplasmicSequence analysisAdd BLAST26
Transmembranei244 – 271HelicalSequence analysisAdd BLAST28
Topological domaini272 – 281LumenalSequence analysis10
Transmembranei282 – 310HelicalSequence analysisAdd BLAST29
Topological domaini311 – 363CytoplasmicSequence analysisAdd BLAST53
Transmembranei364 – 380HelicalSequence analysisAdd BLAST17
Topological domaini381 – 383LumenalSequence analysis3
Transmembranei384 – 399HelicalSequence analysisAdd BLAST16
Topological domaini400 – 427CytoplasmicSequence analysisAdd BLAST28
Transmembranei428 – 448HelicalSequence analysisAdd BLAST21
Topological domaini449 – 462LumenalSequence analysisAdd BLAST14
Transmembranei463 – 481HelicalSequence analysisAdd BLAST19
Topological domaini482 – 493CytoplasmicSequence analysisAdd BLAST12

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
55733

MalaCards human disease database

More...
MalaCardsi
HHAT

Open Targets

More...
OpenTargetsi
ENSG00000054392

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1422, Chondrodysplasia-disorder of sex development syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134926499

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5VTY9, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4296243

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HHAT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74747010

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002131341 – 493Protein-cysteine N-palmitoyltransferase HHATAdd BLAST493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi188S-palmitoyl cysteine1 Publication1
Lipidationi242S-palmitoyl cysteine1 Publication1
Lipidationi324S-palmitoyl cysteine1 Publication1
Lipidationi410S-palmitoyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5VTY9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5VTY9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5VTY9

PeptideAtlas

More...
PeptideAtlasi
Q5VTY9

PRoteomics IDEntifications database

More...
PRIDEi
Q5VTY9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
26462
65361 [Q5VTY9-1]
65362 [Q5VTY9-2]
65363 [Q5VTY9-3]
65364 [Q5VTY9-4]
65365 [Q5VTY9-5]
65366 [Q5VTY9-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5VTY9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5VTY9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q5VTY9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed in normal tissues and cancer cell lines.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000054392, Expressed in right adrenal gland and 169 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5VTY9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5VTY9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000054392, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120852, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q5VTY9, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000438468

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q5VTY9

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5VTY9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5VTY9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni448 – 455GTP-binding1 Publication8

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3860, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063629

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_027533_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5VTY9

Identification of Orthologs from Complete Genome Data

More...
OMAi
IHYMSRD

Database of Orthologous Groups

More...
OrthoDBi
392243at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5VTY9

TreeFam database of animal gene trees

More...
TreeFami
TF315826

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032981, HHAT
IPR004299, MBOAT_fam

The PANTHER Classification System

More...
PANTHERi
PTHR13285:SF20, PTHR13285:SF20, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03062, MBOAT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 7 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5VTY9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLPRWELALY LLASLGFHFY SFYEVYKVSR EHEEELDQEF ELETDTLFGG
60 70 80 90 100
LKKDATDFEW SFWMEWGKQW LVWLLLGHMV VSQMATLLAR KHRPWILMLY
110 120 130 140 150
GMWACWCVLG TPGVAMVLLH TTISFCVAQF RSQLLTWLCS LLLLSTLRLQ
160 170 180 190 200
GVEEVKRRWY KTENEYYLLQ FTLTVRCLYY TSFSLELCWQ QLPAASTSYS
210 220 230 240 250
FPWMLAYVFY YPVLHNGPIL SFSEFIKQMQ QQEHDSLKAS LCVLALGLGR
260 270 280 290 300
LLCWWWLAEL MAHLMYMHAI YSSIPLLETV SCWTLGGLAL AQVLFFYVKY
310 320 330 340 350
LVLFGVPALL MRLDGLTPPA LPRCVSTMFS FTGMWRYFDV GLHNFLIRYV
360 370 380 390 400
YIPVGGSQHG LLGTLFSTAM TFAFVSYWHG GYDYLWCWAA LNWLGVTVEN
410 420 430 440 450
GVRRLVETPC IQDSLARYFS PQARRRFHAA LASCSTSMLI LSNLVFLGGN
460 470 480 490
EVGKTYWNRI FIQGWPWVTL SVLGFLYCYS HVGIAWAQTY ATD
Length:493
Mass (Da):57,313
Last modified:December 7, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5E962E2A61F2DE15
GO
Isoform 2 (identifier: Q5VTY9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-155: Missing.
     465-493: WPWVTLSVLGFLYCYSHVGIAWAQTYATD → GLFLFFLLNP...IENTSELSSY

Show »
Length:453
Mass (Da):52,891
Checksum:i83441A7D3EAE5A84
GO
Isoform 3 (identifier: Q5VTY9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     465-493: WPWVTLSVLGFLYCYSHVGIAWAQTYATD → GLFLFFLLNP...IENTSELSSY

Show »
Length:518
Mass (Da):60,308
Checksum:i9FDB3E0136FB3AFE
GO
Isoform 4 (identifier: Q5VTY9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-369: Missing.
     416-451: ARYFSPQARRRFHAALASCSTSMLILSNLVFLGGNE → VSRILAPVLGDSGTRQIRFIRDGAIRFPAPTMGPFY
     452-493: Missing.

Show »
Length:82
Mass (Da):9,328
Checksum:iE6DA1D13019D20A2
GO
Isoform 5 (identifier: Q5VTY9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-155: Missing.

Show »
Length:428
Mass (Da):49,896
Checksum:i0EDD316948355C70
GO
Isoform 6 (identifier: Q5VTY9-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-228: Missing.

Show »
Length:356
Mass (Da):41,100
Checksum:i7F78984C97B46E08
GO
Isoform 7 (identifier: Q5VTY9-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: MLPRWELALYLLASLGFHFYSFYEVYKVSR → MSLGLGSAERGVLGTRGARERCRRRRPGQPG

Show »
Length:494
Mass (Da):56,951
Checksum:i52FA7301CED685EF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AK61B1AK61_HUMAN
Protein-cysteine N-palmitoyltransfe...
HHAT
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A075B6R5A0A075B6R5_HUMAN
Protein-cysteine N-palmitoyltransfe...
HHAT
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H2Y1F5H2Y1_HUMAN
Protein-cysteine N-palmitoyltransfe...
HHAT
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti2L → P in BAA91772 (PubMed:14702039).Curated1
Sequence conflicti204M → V in BAH14561 (PubMed:14702039).Curated1
Sequence conflicti450N → D in BAA91772 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050024165E → G. Corresponds to variant dbSNP:rs2228898Ensembl.1
Natural variantiVAR_024743182S → N1 PublicationCorresponds to variant dbSNP:rs2294851Ensembl.1
Natural variantiVAR_061336188C → R1 PublicationCorresponds to variant dbSNP:rs34228541Ensembl.1
Natural variantiVAR_024744448G → E in a melanoma cell line; abolishes GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs757163023Ensembl.1
Natural variantiVAR_024745450N → S in a lung cancer cell line. 1 PublicationCorresponds to variant dbSNP:rs147954610EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0166851 – 369Missing in isoform 4. 1 PublicationAdd BLAST369
Alternative sequenceiVSP_0449681 – 30MLPRW…YKVSR → MSLGLGSAERGVLGTRGARE RCRRRRPGQPG in isoform 7. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_01668691 – 155Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST65
Alternative sequenceiVSP_04348192 – 228Missing in isoform 6. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_016687416 – 451ARYFS…LGGNE → VSRILAPVLGDSGTRQIRFI RDGAIRFPAPTMGPFY in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_016688452 – 493Missing in isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_016689465 – 493WPWVT…TYATD → GLFLFFLLNPCWETAFQGFP VFLHFLQTEVLATFVPNYFS WNICIENTSELSSY in isoform 2 and isoform 3. 2 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK001586 mRNA Translation: BAA91772.1
AK297193 mRNA Translation: BAH12521.1
AK298991 mRNA Translation: BAH12917.1
AK302955 mRNA Translation: BAH13854.1
AK316190 mRNA Translation: BAH14561.1
AK316524 mRNA Translation: BAH14895.1
CR936628 mRNA Translation: CAI56771.1
AC096636 Genomic DNA No translation available.
AL034351 Genomic DNA No translation available.
AL035414 Genomic DNA No translation available.
AL590653 Genomic DNA No translation available.
AL691441 Genomic DNA No translation available.
BX255872 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93427.1
CH471100 Genomic DNA Translation: EAW93428.1
CH471100 Genomic DNA Translation: EAW93430.1
BC117130 mRNA Translation: AAI17131.1
AL049848 mRNA Translation: CAB42852.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1495.1 [Q5VTY9-1]
CCDS53471.1 [Q5VTY9-7]
CCDS53472.1 [Q5VTY9-5]
CCDS53473.1 [Q5VTY9-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001116306.1, NM_001122834.3 [Q5VTY9-1]
NP_001164035.1, NM_001170564.2 [Q5VTY9-6]
NP_001164051.1, NM_001170580.2 [Q5VTY9-1]
NP_001164058.1, NM_001170587.2 [Q5VTY9-7]
NP_001164059.1, NM_001170588.2 [Q5VTY9-5]
NP_060664.2, NM_018194.5 [Q5VTY9-1]
XP_011508041.1, XM_011509739.2 [Q5VTY9-3]
XP_011508042.1, XM_011509740.2 [Q5VTY9-3]
XP_011508043.1, XM_011509741.2 [Q5VTY9-3]
XP_011508048.1, XM_011509746.2 [Q5VTY9-2]
XP_016857218.1, XM_017001729.1 [Q5VTY9-3]
XP_016857221.1, XM_017001732.1 [Q5VTY9-5]
XP_016857224.1, XM_017001735.1 [Q5VTY9-5]
XP_016857226.1, XM_017001737.1 [Q5VTY9-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261458; ENSP00000261458; ENSG00000054392 [Q5VTY9-1]
ENST00000367010; ENSP00000355977; ENSG00000054392 [Q5VTY9-1]
ENST00000413764; ENSP00000416845; ENSG00000054392 [Q5VTY9-1]
ENST00000537898; ENSP00000442625; ENSG00000054392 [Q5VTY9-5]
ENST00000541565; ENSP00000444995; ENSG00000054392 [Q5VTY9-6]
ENST00000545154; ENSP00000438468; ENSG00000054392 [Q5VTY9-7]
ENST00000625523; ENSP00000486634; ENSG00000280680 [Q5VTY9-6]
ENST00000625820; ENSP00000486054; ENSG00000280680 [Q5VTY9-1]
ENST00000626327; ENSP00000487414; ENSG00000280680 [Q5VTY9-5]
ENST00000627903; ENSP00000487400; ENSG00000280680 [Q5VTY9-1]
ENST00000628693; ENSP00000486611; ENSG00000280680 [Q5VTY9-7]
ENST00000629360; ENSP00000486128; ENSG00000280680 [Q5VTY9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55733

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55733

UCSC genome browser

More...
UCSCi
uc001hhz.5, human [Q5VTY9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001586 mRNA Translation: BAA91772.1
AK297193 mRNA Translation: BAH12521.1
AK298991 mRNA Translation: BAH12917.1
AK302955 mRNA Translation: BAH13854.1
AK316190 mRNA Translation: BAH14561.1
AK316524 mRNA Translation: BAH14895.1
CR936628 mRNA Translation: CAI56771.1
AC096636 Genomic DNA No translation available.
AL034351 Genomic DNA No translation available.
AL035414 Genomic DNA No translation available.
AL590653 Genomic DNA No translation available.
AL691441 Genomic DNA No translation available.
BX255872 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93427.1
CH471100 Genomic DNA Translation: EAW93428.1
CH471100 Genomic DNA Translation: EAW93430.1
BC117130 mRNA Translation: AAI17131.1
AL049848 mRNA Translation: CAB42852.1
CCDSiCCDS1495.1 [Q5VTY9-1]
CCDS53471.1 [Q5VTY9-7]
CCDS53472.1 [Q5VTY9-5]
CCDS53473.1 [Q5VTY9-6]
RefSeqiNP_001116306.1, NM_001122834.3 [Q5VTY9-1]
NP_001164035.1, NM_001170564.2 [Q5VTY9-6]
NP_001164051.1, NM_001170580.2 [Q5VTY9-1]
NP_001164058.1, NM_001170587.2 [Q5VTY9-7]
NP_001164059.1, NM_001170588.2 [Q5VTY9-5]
NP_060664.2, NM_018194.5 [Q5VTY9-1]
XP_011508041.1, XM_011509739.2 [Q5VTY9-3]
XP_011508042.1, XM_011509740.2 [Q5VTY9-3]
XP_011508043.1, XM_011509741.2 [Q5VTY9-3]
XP_011508048.1, XM_011509746.2 [Q5VTY9-2]
XP_016857218.1, XM_017001729.1 [Q5VTY9-3]
XP_016857221.1, XM_017001732.1 [Q5VTY9-5]
XP_016857224.1, XM_017001735.1 [Q5VTY9-5]
XP_016857226.1, XM_017001737.1 [Q5VTY9-6]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6P64X-ray3.05C/H68-76[»]
6UJOX-ray2.25C68-76[»]
6UJQX-ray2.55C68-76[»]
6UK2X-ray3.14C68-76[»]
6UK4X-ray2.70C68-76[»]
SMRiQ5VTY9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120852, 1 interactor
IntActiQ5VTY9, 1 interactor
STRINGi9606.ENSP00000438468

Chemistry databases

BindingDBiQ5VTY9
ChEMBLiCHEMBL4296243
SwissLipidsiSLP:000001949

Protein family/group databases

TCDBi2.A.50.1.4, the glycerol uptake (gup) or membrane-bound acyl transfeerase (mboat) family

PTM databases

iPTMnetiQ5VTY9
PhosphoSitePlusiQ5VTY9
SwissPalmiQ5VTY9

Genetic variation databases

BioMutaiHHAT
DMDMi74747010

Proteomic databases

jPOSTiQ5VTY9
MassIVEiQ5VTY9
PaxDbiQ5VTY9
PeptideAtlasiQ5VTY9
PRIDEiQ5VTY9
ProteomicsDBi26462
65361 [Q5VTY9-1]
65362 [Q5VTY9-2]
65363 [Q5VTY9-3]
65364 [Q5VTY9-4]
65365 [Q5VTY9-5]
65366 [Q5VTY9-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
47111, 113 antibodies

The DNASU plasmid repository

More...
DNASUi
55733

Genome annotation databases

EnsembliENST00000261458; ENSP00000261458; ENSG00000054392 [Q5VTY9-1]
ENST00000367010; ENSP00000355977; ENSG00000054392 [Q5VTY9-1]
ENST00000413764; ENSP00000416845; ENSG00000054392 [Q5VTY9-1]
ENST00000537898; ENSP00000442625; ENSG00000054392 [Q5VTY9-5]
ENST00000541565; ENSP00000444995; ENSG00000054392 [Q5VTY9-6]
ENST00000545154; ENSP00000438468; ENSG00000054392 [Q5VTY9-7]
ENST00000625523; ENSP00000486634; ENSG00000280680 [Q5VTY9-6]
ENST00000625820; ENSP00000486054; ENSG00000280680 [Q5VTY9-1]
ENST00000626327; ENSP00000487414; ENSG00000280680 [Q5VTY9-5]
ENST00000627903; ENSP00000487400; ENSG00000280680 [Q5VTY9-1]
ENST00000628693; ENSP00000486611; ENSG00000280680 [Q5VTY9-7]
ENST00000629360; ENSP00000486128; ENSG00000280680 [Q5VTY9-1]
GeneIDi55733
KEGGihsa:55733
UCSCiuc001hhz.5, human [Q5VTY9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55733
DisGeNETi55733

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HHAT
HGNCiHGNC:18270, HHAT
HPAiENSG00000054392, Low tissue specificity
MalaCardsiHHAT
MIMi605743, gene
neXtProtiNX_Q5VTY9
OpenTargetsiENSG00000054392
Orphaneti1422, Chondrodysplasia-disorder of sex development syndrome
PharmGKBiPA134926499
VEuPathDBiHostDB:ENSG00000054392.12

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3860, Eukaryota
GeneTreeiENSGT00530000063629
HOGENOMiCLU_027533_3_1_1
InParanoidiQ5VTY9
OMAiIHYMSRD
OrthoDBi392243at2759
PhylomeDBiQ5VTY9
TreeFamiTF315826

Enzyme and pathway databases

PathwayCommonsiQ5VTY9
ReactomeiR-HSA-5358346, Hedgehog ligand biogenesis
R-HSA-5658034, HHAT G278V doesn't palmitoylate Hh-Np
SignaLinkiQ5VTY9
SIGNORiQ5VTY9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
55733, 6 hits in 984 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
HHAT, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55733
PharosiQ5VTY9, Tbio

Protein Ontology

More...
PROi
PR:Q5VTY9
RNActiQ5VTY9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000054392, Expressed in right adrenal gland and 169 other tissues
ExpressionAtlasiQ5VTY9, baseline and differential
GenevisibleiQ5VTY9, HS

Family and domain databases

InterProiView protein in InterPro
IPR032981, HHAT
IPR004299, MBOAT_fam
PANTHERiPTHR13285:SF20, PTHR13285:SF20, 1 hit
PfamiView protein in Pfam
PF03062, MBOAT, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHHAT_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5VTY9
Secondary accession number(s): B7Z4D5
, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q9NVH9, Q9Y3N8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: December 7, 2004
Last modified: June 2, 2021
This is version 150 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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