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Protein

HCLS1-associated protein X-1

Gene

HAX1

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

Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.7 Publications

<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

  • interleukin-1 binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O00165

<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:
HCLS1-associated protein X-1
Alternative name(s):
HS1-associating protein X-1
Short name:
HAX-1
HS1-binding protein 1
Short name:
HSP1BP-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:HAX1
Synonyms:HS1BP1
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143575.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16915 HAX1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605998 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00165

<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; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Mitochondrion, Nucleus, Sarcoplasmic reticulum

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neutropenia, severe congenital 3, autosomal recessive (SCN3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry. The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms (PubMed:18337561).1 Publication
Disease descriptionA disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures.
See also OMIM:610738
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_064514130L → R in SCN3. 1 PublicationCorresponds to variant dbSNP:rs179363871EnsemblClinVar.1
Natural variantiVAR_062259141F → L in SCN3; mild form. 1 PublicationCorresponds to variant dbSNP:rs179363870EnsemblClinVar.1
Natural variantiVAR_064515172V → I in SCN3. 1 PublicationCorresponds to variant dbSNP:rs141970914EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10456

MalaCards human disease database

More...
MalaCardsi
HAX1
MIMi610738 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000143575

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

More...
Orphaneti
99749 Kostmann syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671700

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HAX1

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<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_00000839062 – 279HCLS1-associated protein X-1Add BLAST278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei189PhosphoserineCombined sources1
Modified residuei192PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Proteolytically cleaved by caspase-3 during apoptosis.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei127 – 128Cleavage; by caspase-32

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O00165

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O00165

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O00165

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

More...
PaxDbi
O00165

PeptideAtlas

More...
PeptideAtlasi
O00165

PRoteomics IDEntifications database

More...
PRIDEi
O00165

ProteomicsDB human proteome resource

More...
ProteomicsDBi
47750
47751 [O00165-2]
47752 [O00165-3]
47753 [O00165-4]
47754 [O00165-5]
47755 [O00165-6]

Consortium for Top Down Proteomics

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TopDownProteomicsi
O00165-2 [O00165-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O00165

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

More...
PhosphoSitePlusi
O00165

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
O00165

<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

Ubiquitous. Up-regulated in oral cancers.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143575 Expressed in 236 organ(s), highest expression level in apex of heart

CleanEx database of gene expression profiles

More...
CleanExi
HS_HAX1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O00165 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O00165 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA055141
HPA075289

<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

Interacts with ABCB1, ABCB4 and ABCB11 (By similarity). Directly associates with HCLS1/HS1, through binding to its N-terminal region (PubMed:9058808). Interacts with CTTN (By similarity). Interacts with PKD2 (PubMed:10760273). Interacts with GNA13 (PubMed:15339924). Interacts with CASP9 (PubMed:16857965). Interacts with ITGB6 (PubMed:17545607). Interacts with PLN and ATP2A2; these interactions are inhibited by calcium (PubMed:17241641, PubMed:18971376). Interacts with GRB7 (PubMed:20665473). Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4 (PubMed:20171186). Interacts with TPC2 (PubMed:24188827). Interacts with KCNC3 (PubMed:26997484). Interacts with XPO1 (PubMed:23164465).By similarity12 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)

More...
BioGridi
115719, 134 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O00165

Database of interacting proteins

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DIPi
DIP-36771N

Protein interaction database and analysis system

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IntActi
O00165, 115 interactors

Molecular INTeraction database

More...
MINTi
O00165

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000329002

<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
O00165

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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

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>Regioni2 – 41Required for localization in mitochondriaBy similarityAdd BLAST40
Regioni114 – 279Involved in HCLS1 bindingAdd BLAST166
Regioni175 – 206Involved in CASP9 bindingAdd BLAST32
Regioni176 – 247Involved in GNA13 bindingAdd BLAST72
Regioni183 – 279Required for localization in sarcoplasmic reticulumBy similarityAdd BLAST97
Regioni184 – 279Involved in PKD2 bindingAdd BLAST96
Regioni203 – 245Involved in ATP2A2 bindingAdd BLAST43
Regioni203 – 225Involved in PLN bindingAdd BLAST23
Regioni270 – 279Required for ITGB6 binding10

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 biasi30 – 40Asp/Glu-rich (highly acidic)Add BLAST11

<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

Belongs to the HAX1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJQ0 Eukaryota
ENOG411211U LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018324

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002991

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00165

KEGG Orthology (KO)

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KOi
K16220

Identification of Orthologs from Complete Genome Data

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OMAi
GSQRPFH

Database of Orthologous Groups

More...
OrthoDBi
1567048at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00165

TreeFam database of animal gene trees

More...
TreeFami
TF328619

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017248 HAX-1

The PANTHER Classification System

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PANTHERi
PTHR14938 PTHR14938, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037634 HS1-associating_X-1, 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 (6+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <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 6 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00165-1) [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
MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR
60 70 80 90 100
FHSPQHPPEE FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL
110 120 130 140 150
PSHPPELPGP ESETPGERLR EGQTLRDSML KYPDSHQPRI FGGVLESDAR
160 170 180 190 200
SESPQPAPDW GSQRPFHRFD DVWPMDPHPR TREDNDLDSQ VSQEGLGPVL
210 220 230 240 250
QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV TRHEADSSPR
260 270
GDPESPRPPA LDDAFSILDL FLGRWFRSR
Length:279
Mass (Da):31,621
Last modified:January 23, 2002 - v2
<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:i87EEF0C46857704B
GO
Isoform 2 (identifier: O00165-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     105-105: P → PANTCHLSA

Show »
Length:287
Mass (Da):32,418
Checksum:i762F6F8897C11AB9
GO
Isoform 3 (identifier: O00165-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.

Show »
Length:253
Mass (Da):28,646
Checksum:iA7F85EF8A7E6E0AB
GO
Isoform 4 (identifier: O00165-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-124: ELPGPESETPGERLREGQT → GVWLSLRGNLWFLVGWWVK
     125-279: Missing.

Show »
Length:124
Mass (Da):14,235
Checksum:iB59B40DC8DF641E3
GO
Isoform 5 (identifier: O00165-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     18-65: Missing.

Show »
Length:231
Mass (Da):26,100
Checksum:i25EF194EC019C474
GO
Isoform 6 (identifier: O00165-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     85-264: VRDFNSIFSD...SPRPPALDDA → NFQVLSQRHL...SPNPISRASL
     265-279: Missing.

Show »
Length:191
Mass (Da):21,801
Checksum:iE9D736737D3F978F
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5VYD6Q5VYD6_HUMAN
HCLS1-associated protein X-1
HAX1
255Annotation 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>
E9PIQ7E9PIQ7_HUMAN
HCLS1-associated protein X-1
HAX1
151Annotation 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 conflicti25G → V in BAG62359 (Ref. 3) Curated1
Sequence conflicti45G → R in AAB51196 (PubMed:9058808).Curated1
Sequence conflicti201Q → T in AAB51196 (PubMed:9058808).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06225849P → S. Corresponds to variant dbSNP:rs11556344Ensembl.1
Natural variantiVAR_064514130L → R in SCN3. 1 PublicationCorresponds to variant dbSNP:rs179363871EnsemblClinVar.1
Natural variantiVAR_062259141F → L in SCN3; mild form. 1 PublicationCorresponds to variant dbSNP:rs179363870EnsemblClinVar.1
Natural variantiVAR_062260151S → G1 PublicationCorresponds to variant dbSNP:rs17851425Ensembl.1
Natural variantiVAR_064515172V → I in SCN3. 1 PublicationCorresponds to variant dbSNP:rs141970914EnsemblClinVar.1
Natural variantiVAR_062261278S → P. Corresponds to variant dbSNP:rs1804715Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0385361 – 26Missing in isoform 3. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_03854318 – 65Missing in isoform 5. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_03854485 – 264VRDFN…ALDDA → NFQVLSQRHLVRDYGRDRHF GTQCLSIQIVTSPGSLGGSW RVMQEVNPPNQHQTGAPRGH FIGLMMYGLWTPILEPERTM ILIPRFPRRVLARFYSPSPN PISRASL in isoform 6. 1 PublicationAdd BLAST180
Alternative sequenceiVSP_038537105P → PANTCHLSA in isoform 2. 2 Publications1
Alternative sequenceiVSP_038538106 – 124ELPGP…REGQT → GVWLSLRGNLWFLVGWWVK in isoform 4. 3 PublicationsAdd BLAST19
Alternative sequenceiVSP_038539125 – 279Missing in isoform 4. 3 PublicationsAdd BLAST155
Alternative sequenceiVSP_038545265 – 279Missing in isoform 6. 1 PublicationAdd BLAST15

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

More...
DDBJi
Links Updated
U68566 mRNA Translation: AAB51196.1
EU190982 mRNA Translation: ABW73998.1
EU190983 mRNA Translation: ABW73999.1
AK290626 mRNA Translation: BAF83315.1
AK294298 mRNA Translation: BAG57580.1
AK300676 mRNA Translation: BAG62359.1
AL354980 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53212.1
BC005240 mRNA Translation: AAH05240.1
BC014314 mRNA Translation: AAH14314.1
BC015209 mRNA Translation: AAH15209.1
BC016730 mRNA Translation: AAH16730.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1064.1 [O00165-1]
CCDS44230.1 [O00165-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001018238.1, NM_001018837.1 [O00165-5]
NP_006109.2, NM_006118.3 [O00165-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.199625

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000328703; ENSP00000329002; ENSG00000143575 [O00165-1]
ENST00000447768; ENSP00000403848; ENSG00000143575 [O00165-6]
ENST00000457918; ENSP00000411448; ENSG00000143575 [O00165-5]
ENST00000483970; ENSP00000435088; ENSG00000143575 [O00165-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10456

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10456

UCSC genome browser

More...
UCSCi
uc001fes.5 human [O00165-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

HAX1base

HAX1 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U68566 mRNA Translation: AAB51196.1
EU190982 mRNA Translation: ABW73998.1
EU190983 mRNA Translation: ABW73999.1
AK290626 mRNA Translation: BAF83315.1
AK294298 mRNA Translation: BAG57580.1
AK300676 mRNA Translation: BAG62359.1
AL354980 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53212.1
BC005240 mRNA Translation: AAH05240.1
BC014314 mRNA Translation: AAH14314.1
BC015209 mRNA Translation: AAH15209.1
BC016730 mRNA Translation: AAH16730.1
CCDSiCCDS1064.1 [O00165-1]
CCDS44230.1 [O00165-5]
RefSeqiNP_001018238.1, NM_001018837.1 [O00165-5]
NP_006109.2, NM_006118.3 [O00165-1]
UniGeneiHs.199625

3D structure databases

ProteinModelPortaliO00165
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115719, 134 interactors
CORUMiO00165
DIPiDIP-36771N
IntActiO00165, 115 interactors
MINTiO00165
STRINGi9606.ENSP00000329002

PTM databases

iPTMnetiO00165
PhosphoSitePlusiO00165

Polymorphism and mutation databases

BioMutaiHAX1

Proteomic databases

EPDiO00165
jPOSTiO00165
MaxQBiO00165
PaxDbiO00165
PeptideAtlasiO00165
PRIDEiO00165
ProteomicsDBi47750
47751 [O00165-2]
47752 [O00165-3]
47753 [O00165-4]
47754 [O00165-5]
47755 [O00165-6]
TopDownProteomicsiO00165-2 [O00165-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10456
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328703; ENSP00000329002; ENSG00000143575 [O00165-1]
ENST00000447768; ENSP00000403848; ENSG00000143575 [O00165-6]
ENST00000457918; ENSP00000411448; ENSG00000143575 [O00165-5]
ENST00000483970; ENSP00000435088; ENSG00000143575 [O00165-2]
GeneIDi10456
KEGGihsa:10456
UCSCiuc001fes.5 human [O00165-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10456
DisGeNETi10456
EuPathDBiHostDB:ENSG00000143575.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HAX1
HGNCiHGNC:16915 HAX1
HPAiHPA055141
HPA075289
MalaCardsiHAX1
MIMi605998 gene
610738 phenotype
neXtProtiNX_O00165
OpenTargetsiENSG00000143575
Orphaneti99749 Kostmann syndrome
PharmGKBiPA142671700

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJQ0 Eukaryota
ENOG411211U LUCA
GeneTreeiENSGT00390000018324
HOVERGENiHBG002991
InParanoidiO00165
KOiK16220
OMAiGSQRPFH
OrthoDBi1567048at2759
PhylomeDBiO00165
TreeFamiTF328619

Enzyme and pathway databases

SIGNORiO00165

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HAX1

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

More...
GenomeRNAii
10456
PMAP-CutDBiO00165

Protein Ontology

More...
PROi
PR:O00165

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143575 Expressed in 236 organ(s), highest expression level in apex of heart
CleanExiHS_HAX1
ExpressionAtlasiO00165 baseline and differential
GenevisibleiO00165 HS

Family and domain databases

InterProiView protein in InterPro
IPR017248 HAX-1
PANTHERiPTHR14938 PTHR14938, 1 hit
PIRSFiPIRSF037634 HS1-associating_X-1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiHAX1_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: O00165
Secondary accession number(s): A8W4W9
, A8W4X0, B4DUJ7, Q5VYD5, Q5VYD7, Q96AU4, Q9BS80
<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: July 15, 1998
Last sequence update: January 23, 2002
Last modified: January 16, 2019
This is version 178 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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