InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HAX1

Summary

InnateDB Protein

IDBP-102926.6

Last Modified

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

Gene Symbol

HAX1

Protein Name

HCLS1 associated protein X-1

Synonyms

HCLSBP1; HS1BP1; SCN3;

Species

Homo sapiens

Ensembl Protein

ENSP00000329002

InnateDB Gene

IDBG-102924 (HAX1)

Protein Structure

UniProt Annotation

Function

Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools. {ECO:0000269PubMed:15339924, ECO:0000269PubMed:16857965, ECO:0000269PubMed:17545607, ECO:0000269PubMed:18319618, ECO:0000269PubMed:18971376, ECO:0000269PubMed:9058808}.

Subcellular Localization

Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle {ECO:0000250}. Sarcoplasmic reticulum {ECO:0000250}.

Disease Associations

Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. {ECO:0000269PubMed:17187068, ECO:0000269PubMed:18337561, ECO:0000269PubMed:19796188, ECO:0000269PubMed:20220065}. Note=The disease is caused by mutations affecting the gene represented in this entry. The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms (PubMed:18337561). {ECO:0000269PubMed:18337561}.

Tissue Specificity

Ubiquitous. Up-regulated in oral cancers. {ECO:0000269PubMed:17545607, ECO:0000269PubMed:9058808}.

Comments

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