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    HAX1 HCLS1 associated protein X-1 [ Homo sapiens (human) ]

    Gene ID: 10456, updated on 9-Aug-2021

    Summary

    Official Symbol
    HAX1provided by HGNC
    Official Full Name
    HCLS1 associated protein X-1provided by HGNC
    Primary source
    HGNC:HGNC:16915
    See related
    Ensembl:ENSG00000143575 MIM:605998
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCN3; HS1BP1; HCLSBP1
    Summary
    The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 48.3), thyroid (RPKM 38.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See HAX1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154272629..154275875)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154245105..154248351)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 43 Neighboring gene ubiquitin associated protein 2 like Neighboring gene small nucleolar RNA, H/ACA box 58B Neighboring gene RNA, U6 small nuclear 239, pseudogene Neighboring gene RNA, U6 small nuclear 121, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev In Hax1 co-expressing cells, Rev is translocated from the nucleus to the cytoplasm, where it is co-localized with Hax-1 in the cytoplasm PubMed
    rev Hax1 binds to HIV-1 Rev and abrogates Rev binding to RRE RNA PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ17042, FLJ18492, FLJ93803

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables interleukin-1 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein N-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to cytokine stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of actin cytoskeleton reorganization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of granulocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of actin filament polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of autophagy of mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of protein targeting to mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in P-body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in clathrin-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    HCLS1-associated protein X-1
    Names
    HAX-1
    HCLS1 (and PKD2) associated protein
    HS1 binding protein
    HS1-associating protein X-1
    HS1-binding protein 1
    HSP1BP-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007369.1 RefSeqGene

      Range
      5001..8313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_64

    mRNA and Protein(s)

    1. NM_001018837.2NP_001018238.1  HCLS1-associated protein X-1 isoform b

      See identical proteins and their annotated locations for NP_001018238.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC005240, BF668367, U68566
      Consensus CDS
      CCDS44230.1
      UniProtKB/Swiss-Prot
      O00165
      UniProtKB/TrEMBL
      A0A0S2Z565
      Related
      ENSP00000411448.2, ENST00000457918.6
    2. NM_006118.4NP_006109.2  HCLS1-associated protein X-1 isoform a

      See identical proteins and their annotated locations for NP_006109.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC005240, U68566
      Consensus CDS
      CCDS1064.1
      UniProtKB/Swiss-Prot
      O00165
      UniProtKB/TrEMBL
      A0A0S2Z591
      Related
      ENSP00000329002.7, ENST00000328703.12

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      154272629..154275875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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