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Entry version 151 (10 Apr 2019)
Sequence version 3 (02 Mar 2010)
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Protein

Huntingtin-associated protein 1

Gene

HAP1

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

Originally identified as neuronal protein that specifically associates with HTT/huntingtin and the binding is enhanced by an expanded polyglutamine repeat within HTT possibly affecting HAP1 interaction properties. Both HTT and HAP1 are involved in intracellular trafficking and HAP1 is proposed to link HTT to motor proteins and/or transport cargos. Seems to play a role in vesicular transport within neurons and axons such as from early endosomes to late endocytic compartments and to promote neurite outgrowth. The vesicular transport function via association with microtubule-dependent transporters can be attenuated by association with mutant HTT. Involved in the axonal transport of BDNF and its activity-dependent secretion; the function seems to involve HTT, DCTN1 and a complex with SORT1. Involved in APP trafficking and seems to facilitate APP anterograde transport and membrane insertion thereby possibly reducing processing into amyloid beta. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptors to synapses; the function is dependent on kinesin motor protein KIF5 and is disrupted by HTT with expanded polyglutamine repeat. Involved in regulation of autophagosome motility by promoting efficient retrograde axonal transport. Seems to be involved in regulation of membrane receptor recycling and degradation, and respective signal transduction, including GABA(A) receptors, tyrosine kinase receptors, EGFR, IP3 receptor and androgen receptor. Among others suggested to be involved in control of feeding behavior (involving hypothalamic GABA(A) receptors), cerebellar and brainstem development (involving AHI1 and NTRK1/TrkA), postnatal neurogenesis (involving hypothalamic NTRK2/TrkB), and ITPR1/InsP3R1-mediated Ca2+ release (involving HTT and possibly the effect of mutant HTT). Via association with DCTN1/dynactin p150-glued and HTT/huntingtin involved in cytoplasmic retention of REST in neurons. May be involved in ciliogenesis. Involved in regulation of exocytosis. Seems to be involved in formation of cytoplasmic inclusion bodies (STBs). In case of anomalous expression of TBP, can sequester a subset of TBP into STBs; sequestration is enhanced by an expanded polyglutamine repeat within TBP. HAP1-containing STBs have been proposed to play a protective role against neurodegeneration in Huntigton disease (HD) and spinocerebellar ataxia 17 (SCA17).1 Publication

Miscellaneous

Was not found in huntingtin-containing aggregates in huntigton disease (HD) tissue.

<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

Biological processAutophagy, Cilium biogenesis/degradation, Exocytosis, Protein transport, Transport

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P54257

<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_and_taxonomy_section">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:
Huntingtin-associated protein 1
Short name:
HAP-1
Alternative name(s):
Neuroan 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:HAP1
Synonyms:HAP2, HLP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000173805.15

Human Gene Nomenclature Database

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HGNCi
HGNC:4812 HAP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600947 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P54257

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endoplasmic reticulum, Lysosome, Mitochondrion, Nucleus, Synapse

<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
9001

Open Targets

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OpenTargetsi
ENSG00000173805

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HAP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
290457683

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000838941 – 671Huntingtin-associated protein 1Add BLAST671

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P54257

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P54257

PeptideAtlas

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PeptideAtlasi
P54257

PRoteomics IDEntifications database

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PRIDEi
P54257

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56659
56660 [P54257-2]
56661 [P54257-3]
56662 [P54257-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54257

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

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PhosphoSitePlusi
P54257

<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

Predominantly expressed in brain. Selectively expressed in neurons.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000173805 Expressed in 148 organ(s), highest expression level in hypothalamus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54257 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54257 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA023394

<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_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Self-associates. Interacts with HTT/huntingtin; enhanced by an expanded polyglutamine repeat within HTT. Interacts with DCTN1; decreased in presence of HTT with expanded polyglutamine repeat. Interacts with KLC2. Interacts with ITPR1 and APP. Interacts with AR; decreased by an expanded polyglutamine repeat within AR. Interacts with YWHAZ. Interacts with BDNF and SORT1; probably forming a complex involved in proBDNF trafficking, degradation and processing. Interacts with TBP, AHI1, HGS and KALRN. Interacts with KIF5A, KIF5B, KIF5C and GABRB3; indicative for an HAP1:KIF5 complex transporting a GABA(A) receptor as cargo. Interacts with ATXN3; in STBs with ATXN3 poly-Gln region with 27 repeats (normal population) and 79 repeats (spinocerebellar ataxia 3 (SCA3) patients) associating in the same strength. Interacts with NTRK2; HAP1 stabilizes association of NTRK2 with SORT1 preventing NTRK2 degradation. Interacts with CCDC113.5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114480, 67 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P54257

Protein interaction database and analysis system

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IntActi
P54257, 75 interactors

Molecular INTeraction database

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MINTi
P54257

STRING: functional protein association networks

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STRINGi
9606.ENSP00000334002

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54257

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

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SMRi
P54257

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini106 – 461HAP1 N-terminalAdd BLAST356

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili212 – 427Sequence analysisAdd BLAST216

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi261 – 601Glu-richAdd BLAST341

Keywords - Domaini

Coiled coil

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00940000162183

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG031599

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54257

KEGG Orthology (KO)

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KOi
K04647

Identification of Orthologs from Complete Genome Data

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OMAi
PWTRFIF

Database of Orthologous Groups

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OrthoDBi
592923at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P54257

TreeFam database of animal gene trees

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TreeFami
TF323495

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006933 HAP1_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF04849 HAP1_N, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 4 <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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P54257-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV
60 70 80 90 100
GSRATSGSQF LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS
110 120 130 140 150
DAPWTRFVFQ GPFGSRATGR GTGKAAGIWK TPAAYVGRRP GVSGPERAAF
160 170 180 190 200
IRELEEALCP NLPPPVKKIT QEDVKVMLYL LEELLPPVWE SVTYGMVLQR
210 220 230 240 250
ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL YLRHQVNLRD
260 270 280 290 300
ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
310 320 330 340 350
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL
360 370 380 390 400
ECVEQFSEAS QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM
410 420 430 440 450
YGAETEKLQK QLASEKEIQM QLQEESVWVG SQLQDLREKY MDCGGMLIEM
460 470 480 490 500
QEEVKTLRQQ PPVSTGSATH YPYSVPLETL PGFQETLAEE LRTSLRRMIS
510 520 530 540 550
DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE GLMLAADIMR
560 570 580 590 600
GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
610 620 630 640 650
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK
660 670
GECPHGALPA ASRTSCRSSC R
Note: No experimental confirmation available.
Length:671
Mass (Da):75,506
Last modified:March 2, 2010 - v3
<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:i10971B807941B4EE
GO
Isoform 2 (identifier: P54257-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     426-477: Missing.

Show »
Length:619
Mass (Da):69,640
Checksum:i6BF49457C5178317
GO
Isoform 3 (identifier: P54257-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     401-477: Missing.

Show »
Length:594
Mass (Da):66,705
Checksum:iF308765B0A0DCFDA
GO
Isoform 4 (identifier: P54257-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-183: E → EVCTAFLIQ
     401-477: Missing.

Show »
Length:602
Mass (Da):67,582
Checksum:i3100300659F29F84
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
H7C295H7C295_HUMAN
Huntingtin-associated protein 1
HAP1
111Annotation 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>
H7BZC9H7BZC9_HUMAN
Huntingtin-associated protein 1
HAP1
73Annotation 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>
H7C0W9H7C0W9_HUMAN
Huntingtin-associated protein 1
HAP1
40Annotation 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 conflicti184 – 199Missing in CAB82785 (Ref. 6) CuratedAdd BLAST16
Sequence conflicti573P → L in BAB13952 (PubMed:14702039).Curated1
Sequence conflicti579M → V in AAC39861 (PubMed:9668110).Curated1
Sequence conflicti611A → T in AAC50297 (PubMed:7477378).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_0467364K → R3 PublicationsCorresponds to variant dbSNP:rs4796604Ensembl.1
Natural variantiVAR_04673758S → T3 PublicationsCorresponds to variant dbSNP:rs4796603Ensembl.1
Natural variantiVAR_046738357S → L3 PublicationsCorresponds to variant dbSNP:rs4796693Ensembl.1
Natural variantiVAR_056906408L → F. Corresponds to variant dbSNP:rs35612698Ensembl.1
Natural variantiVAR_046739437R → W1 PublicationCorresponds to variant dbSNP:rs11867808Ensembl.1
Natural variantiVAR_046741483F → L. Corresponds to variant dbSNP:rs8075017Ensembl.1
Natural variantiVAR_046742488A → V. Corresponds to variant dbSNP:rs34853043Ensembl.1
Natural variantiVAR_056907493T → M May influence the age-at-onset of Huntington disease; increases binding to mutated HTT; influences HTT degradation. 2 PublicationsCorresponds to variant dbSNP:rs4523977Ensembl.1
Natural variantiVAR_056908557A → V. Corresponds to variant dbSNP:rs34853043Ensembl.1
Natural variantiVAR_062817560F → L6 PublicationsCorresponds to variant dbSNP:rs8075017Ensembl.1
Natural variantiVAR_056909656G → R. Corresponds to variant dbSNP:rs34044330Ensembl.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_038754183E → EVCTAFLIQ in isoform 4. 1 Publication1
Alternative sequenceiVSP_004277401 – 477Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST77
Alternative sequenceiVSP_004278426 – 477Missing in isoform 2. 2 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF040723 mRNA Translation: AAC39861.1
AJ012824 Genomic DNA Translation: CAC09418.1
AK022007 mRNA Translation: BAB13952.1
AC109319 Genomic DNA No translation available.
AB209105 mRNA Translation: BAD92342.1
AJ224877 Genomic DNA Translation: CAB82785.1
U38371 mRNA Translation: AAC50297.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11406.1 [P54257-2]
CCDS42338.1 [P54257-4]
CCDS42339.1 [P54257-3]

Protein sequence database of the Protein Information Resource

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PIRi
S72555

NCBI Reference Sequences

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RefSeqi
NP_001073339.1, NM_001079870.1 [P54257-4]
NP_001073340.1, NM_001079871.1 [P54257-3]
NP_817084.2, NM_177977.2 [P54257-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.158300

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000310778; ENSP00000309392; ENSG00000173805 [P54257-1]
ENST00000341193; ENSP00000343170; ENSG00000173805 [P54257-4]
ENST00000347901; ENSP00000334002; ENSG00000173805 [P54257-2]
ENST00000393939; ENSP00000377513; ENSG00000173805 [P54257-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9001

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9001

UCSC genome browser

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UCSCi
uc002hxm.2 human [P54257-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF040723 mRNA Translation: AAC39861.1
AJ012824 Genomic DNA Translation: CAC09418.1
AK022007 mRNA Translation: BAB13952.1
AC109319 Genomic DNA No translation available.
AB209105 mRNA Translation: BAD92342.1
AJ224877 Genomic DNA Translation: CAB82785.1
U38371 mRNA Translation: AAC50297.1
CCDSiCCDS11406.1 [P54257-2]
CCDS42338.1 [P54257-4]
CCDS42339.1 [P54257-3]
PIRiS72555
RefSeqiNP_001073339.1, NM_001079870.1 [P54257-4]
NP_001073340.1, NM_001079871.1 [P54257-3]
NP_817084.2, NM_177977.2 [P54257-2]
UniGeneiHs.158300

3D structure databases

ProteinModelPortaliP54257
SMRiP54257
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114480, 67 interactors
CORUMiP54257
IntActiP54257, 75 interactors
MINTiP54257
STRINGi9606.ENSP00000334002

PTM databases

iPTMnetiP54257
PhosphoSitePlusiP54257

Polymorphism and mutation databases

BioMutaiHAP1
DMDMi290457683

Proteomic databases

EPDiP54257
jPOSTiP54257
PeptideAtlasiP54257
PRIDEiP54257
ProteomicsDBi56659
56660 [P54257-2]
56661 [P54257-3]
56662 [P54257-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9001
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310778; ENSP00000309392; ENSG00000173805 [P54257-1]
ENST00000341193; ENSP00000343170; ENSG00000173805 [P54257-4]
ENST00000347901; ENSP00000334002; ENSG00000173805 [P54257-2]
ENST00000393939; ENSP00000377513; ENSG00000173805 [P54257-3]
GeneIDi9001
KEGGihsa:9001
UCSCiuc002hxm.2 human [P54257-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9001
DisGeNETi9001
EuPathDBiHostDB:ENSG00000173805.15

GeneCards: human genes, protein and diseases

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GeneCardsi
HAP1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0013817
HGNCiHGNC:4812 HAP1
HPAiHPA023394
MIMi600947 gene
neXtProtiNX_P54257
OpenTargetsiENSG00000173805
PharmGKBiPA29188

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000162183
HOVERGENiHBG031599
InParanoidiP54257
KOiK04647
OMAiPWTRFIF
OrthoDBi592923at2759
PhylomeDBiP54257
TreeFamiTF323495

Enzyme and pathway databases

SIGNORiP54257

Miscellaneous databases

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

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GenomeRNAii
9001

Protein Ontology

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PROi
PR:P54257

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173805 Expressed in 148 organ(s), highest expression level in hypothalamus
ExpressionAtlasiP54257 baseline and differential
GenevisibleiP54257 HS

Family and domain databases

InterProiView protein in InterPro
IPR006933 HAP1_N
PfamiView protein in Pfam
PF04849 HAP1_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiHAP1_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: P54257
Secondary accession number(s): A8MQB5
, O75358, Q59GK4, Q9H4G3, Q9HA98, Q9NY90
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: March 2, 2010
Last modified: April 10, 2019
This is version 151 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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