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

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; AllianceGenome:HGNC:16915
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: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (154272629..154275875)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (153409836..153413082)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (154245105..154248351)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The EIF3H-HAX1 axis increases RAF-MEK-ERK signaling activity to promote colorectal cancer progression.
Title: The EIF3H-HAX1 axis increases RAF-MEK-ERK signaling activity to promote colorectal cancer progression.
HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response.
Title: HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response.
NOD1 cooperates with HAX-1 to promote cell migration in a RIPK2- and NF-kB-independent manner.
Title: NOD1 cooperates with HAX-1 to promote cell migration in a RIPK2- and NF-ĸB-independent manner.
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Title: HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Effect of different expression patterns of HAX-1 on the proliferation and apoptosis of human astrocyte.
Title: Effect of different expression patterns of HAX-1 on the proliferation and apoptosis of human astrocyte.
Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Title: Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Extracellular vesicles rich in HAX1 promote angiogenesis by modulating ITGB6 translation.
Title: Extracellular vesicles rich in HAX1 promote angiogenesis by modulating ITGB6 translation.
HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.
Title: HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.
HAX1 maintains the glioma progression in hypoxia through promoting mitochondrial fission.
Title: HAX1 maintains the glioma progression in hypoxia through promoting mitochondrial fission.
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
Title: A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.

Submit: New GeneRIF Correction See all GeneRIFs (102)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Kostmann syndrome MedGen: C5235141 OMIM: 610738 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71253 (e-PCR)
- UniSTS:18184

RH45154 (e-PCR)
- UniSTS:19731

D1S3020 (e-PCR)
- UniSTS:74293

Cda13d03 (e-PCR)
- UniSTS:74294

STS-W90414 (e-PCR)
- UniSTS:73406

RH67854 (e-PCR)
- UniSTS:69839

SHGC-33740 (e-PCR)
- UniSTS:18652

RH18226 (e-PCR)
- UniSTS:30446

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables interleukin-1 binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to cytokine stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in granulocyte colony-stimulating factor signaling pathway	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
involved_in negative regulation of apoptotic process	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-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	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 organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
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
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
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
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 matrix	IEA Inferred from Electronic Annotation more info
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
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
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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

NG_007369.1 RefSeqGene

Range

5001..8313

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_64

mRNA and Protein(s)

NM_001018837.2 → NP_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/TrEMBL

A0A0S2Z565, A0A8V8TLX9

Related

ENSP00000411448.2, ENST00000457918.6
NM_006118.4 → NP_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

A8W4W9, A8W4X0, B4DUJ7, O00165, Q5VYD5, Q5VYD7, Q96AU4, Q9BS80

UniProtKB/TrEMBL

A0A0S2Z591, A0A8V8TLX9

Related

ENSP00000329002.7, ENST00000328703.12