InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Hax1

Summary

InnateDB Gene

IDBG-165357.6

Last Modified

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

Gene Symbol

Hax1

Gene Name

HCLS1 associated X-1

Synonyms

HAX-1; Hs1bp1; HSP1BP-1; mHAX-1s; SIG-111; Silg111

Species

Mus musculus

Ensembl Gene

ENSMUSG00000027944

Encoded Proteins

IDBP-165359

HCLS1 associated X-1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000143575:
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 3:89995457-89998686

Strand

Reverse strand

Band

Transcripts

ENSMUST00000079724

ENSMUSP00000078661

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 45 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	45 [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:0007166	cell surface receptor signaling pathway
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: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

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000143575

View Gene Order

ENSBTAG00000013025

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.486300

RefSeq

NM_011826 XM_006501445

OMIM

CCDS

CCDS17519

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas