• Gene id: 10456

Gene Summary

• Gene Symbol: HAX1   Gene   UCSC   Ensembl
• Aliases: HCLSBP1, HS1BP1, SCN3
• Gene name: HCLS1 associated protein X-1
• Alternate names: HCLS1-associated protein X-1, HAX-1, HCLS1 (and PKD2) associated protein, HS1 binding protein, HS1-associating protein X-1, HS1-binding protein 1, HSP1BP-1,
• Gene location: 1q21.3 (38252086: 38357248)     Exons: 9     NC_000015.10
• Gene summary(Entrez): 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 associa
• OMIM: 605998

Protein Summary

• Protein general information: O00165  
  • Name: HCLS1 associated protein X 1 (HS1 associating protein X 1) (HAX 1) (HS1 binding protein 1) (HSP1BP 1)
  • Length: 279  
  • Mass: 31621
  • Tissue specificity: Ubiquitous. Up-regulated in oral cancers. {ECO
• Sequence:

  MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRF
  HDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDAR
  SESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEE
  RRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR

• Structural information:
  • Interpro: IPR017248  
  • DIP: 36771
  • STRING: ENSP00000329002
• Other Databases: GeneCards:  HAX1  Malacards:  HAX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903146	regulation of autophagy of mitochondrion	TAS	biological process
GO:1903214	regulation of protein targeting to mitochondrion	TAS	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0030136	clathrin-coated vesicle	IBA	cellular component
GO:0030833	regulation of actin filament polymerization	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0030027	lamellipodium	ISS	cellular component
GO:0030833	regulation of actin filament polymerization	IMP	biological process
GO:0030854	positive regulation of granulocyte differentiation	IMP	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0071345	cellular response to cytokine stimulus	IMP	biological process
GO:2000251	positive regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0000932	P-body	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0047485	protein N-terminus binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0019966	interleukin-1 binding	IDA	molecular function
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007005	mitochondrion organization	IMP	NOT|biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Neutropenic disorders	KEGG:H00100
Neutropenic disorders	KEGG:H00100
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881