InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: HAX1

Summary

InnateDB Gene

IDBG-102924.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HAX1

Gene Name

HCLS1 associated protein X-1

Synonyms

HCLSBP1; HS1BP1; SCN3

Species

Homo sapiens

Ensembl Gene

ENSG00000143575

Encoded Proteins

IDBP-102926

HCLS1 associated protein X-1

IDBP-388778

HCLS1 associated protein X-1

IDBP-388780

HCLS1 associated protein X-1

IDBP-388781

HCLS1 associated protein X-1

IDBP-589417

HCLS1 associated protein X-1

IDBP-599535

HCLS1 associated protein X-1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:154272511-154275875

Strand

Forward strand

Band

q21.3

Transcripts

ENST00000328703	ENSP00000329002
ENST00000457918	ENSP00000411448
ENST00000447768	ENSP00000403848
ENST00000435087	ENSP00000394920
ENST00000483970	ENSP00000435088
ENST00000477780
ENST00000471326
ENST00000492550
ENST00000459914
ENST00000531435
ENST00000532105	ENSP00000433951

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	59 [view]
Protein-Protein	54 [view]
Protein-DNA	5 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019904	protein domain specific binding
GO:0019966	interleukin-1 binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling
GO:0030833	regulation of actin filament polymerization
GO:0030854	positive regulation of granulocyte differentiation
GO:0033138	positive regulation of peptidyl-serine phosphorylation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation
GO:0051897	positive regulation of protein kinase B signaling
GO:0071345	cellular response to cytokine stimulus
GO:2000251	positive regulation of actin cytoskeleton reorganization

Cellular Component

GO:0005635	nuclear envelope
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0015629	actin cytoskeleton
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0016324	apical plasma membrane
GO:0016529	sarcoplasmic reticulum
GO:0030027	lamellipodium
GO:0030136	clathrin-coated vesicle
GO:0031965	nuclear membrane
GO:0043231	intracellular membrane-bounded organelle

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027944

View Gene Order

ENSBTAG00000013025

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001018837 NM_006118

HUGO

OMIM

CCDS

CCDS1064 CCDS44230

HPRD

12075

IMGT

EMBL

GenPept

RNA Seq Atlas