Hax1 HCLS1 associated X-1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hax1provided by MGI
Official Full Name: HCLS1 associated X-1provided by MGI
Primary source: MGI:MGI:1346319
See related: Ensembl:ENSMUSG00000027944 AllianceGenome:MGI:1346319
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HAX-1; Hs1bp1; SIG-111; Silg111; mHAX-1s; HSP1BP-1
Summary: Predicted to enable interleukin-1 binding activity; protein domain specific binding activity; and signaling adaptor activity. Predicted to be involved in several processes, including granulocyte colony-stimulating factor signaling pathway; positive regulation of macromolecule metabolic process; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Predicted to act upstream of or within cell surface receptor signaling pathway. Located in several cellular components, including lamellipodium; mitochondrial matrix; and sarcoplasmic reticulum. Is expressed in coelomic epithelium of testis; ovary; and testis mesenchyme. Human ortholog(s) of this gene implicated in severe congenital neutropenia 3. Orthologous to human HAX1 (HCLS1 associated protein X-1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 37.5), testis adult (RPKM 25.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 39.19 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (89902753..89906023, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (89995446..89998716, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Anti-apoptotic HAX-1 suppresses cell apoptosis by promoting c-Abl kinase-involved ROS clearance.
Title: Anti-apoptotic HAX-1 suppresses cell apoptosis by promoting c-Abl kinase-involved ROS clearance.
Neuroprotective roles of HAX-1 in ischemic neuronal injury.
Title: Neuroprotective roles of HAX-1 in ischemic neuronal injury.
Cerebellar Kv3.3 potassium channels activate TANK-binding kinase 1 to regulate trafficking of the cell survival protein Hax-1.
Title: Cerebellar Kv3.3 potassium channels activate TANK-binding kinase 1 to regulate trafficking of the cell survival protein Hax-1.
Hepatic HAX-1 inactivation prevents metabolic diseases by enhancing mitochondrial activity and bile salt export.
Title: Hepatic HAX-1 inactivation prevents metabolic diseases by enhancing mitochondrial activity and bile salt export.
These findings reveal a role of HAX-1 in the regulation of oxidative stress and SERCA2a degradation.
Title: HAX-1 regulates SERCA2a oxidation and degradation.
Omi/HtrA2-HAX-1 chain played a significant role in mitochondrial homeostasis.
Title: Mitochondrial Omi/HtrA2 Promotes Caspase Activation Through Cleavage of HAX-1 in Aging Heart.
HAX1 plays a general role in B cell receptor-mediated internalization events and BCR-mediated apoptosis.
Title: HAX1 deletion impairs BCR internalization and leads to delayed BCR-mediated apoptosis.
The hydrophilic sequences within loop 2, and the matrix-localized hydrophilic domain of UCP3, were necessary for binding to Hax-1 at the C-terminal domain, adjacent to the mitochondrial inner membrane.
Title: UCP3 is associated with Hax-1 in mitochondria in the presence of calcium ion.
Protease Omi impairs mitochondrial function by cleaving Hax-1, which induces apoptosis in oxygen-glucose deprivation and reoxygenation -treated N2a cells and causes reperfusion injury in middle cerebral artery occlusion mice.
Title: Protease Omi cleaving Hax-1 protein contributes to OGD/R-induced mitochondrial damage in neuroblastoma N2a cells and cerebral injury in MCAO mice.
Knockdown of HAX1 and EB2 in skin epidermal cells stabilizes focal adhesions and impairs epidermal migration.
Title: Regulation of Focal Adhesion Dynamics and Cell Motility by the EB2 and Hax1 Protein Complex.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables interleukin-1 binding	IEA Inferred from Electronic Annotation more info
enables interleukin-1 binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables signaling adaptor activity	IEA Inferred from Electronic Annotation more info
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to cytokine stimulus	ISO Inferred from Sequence Orthology more info
involved_in granulocyte colony-stimulating factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in granulocyte colony-stimulating factor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of granulocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of granulocyte differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament organization	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info

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	IDA Inferred from Direct Assay more info	PubMed
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology 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 clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA 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 mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in sarcoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: HCLS1-associated protein X-1

Names: HS1 binding protein; HS1-associated protein X-1; HS1-associating protein X-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.