Format

Send to:

Choose Destination

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

Gene ID: 10456, updated on 3-Mar-2019

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

Genomic context

See HAX1 in Genome Data Viewer
Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (154272563..154275875)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154245039..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 FunctionsWhat'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
interleukin-1 binding IDA
Inferred from Direct Assay
more info
PubMed 
protein N-terminus binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
P-body IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
transcription factor 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)

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_001018837.1NP_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_006118.3NP_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, ENST00000328703.11

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    154272563..154275875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center