InnateDB Protein
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IDBP-388780.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HAX1
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Protein Name
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HCLS1 associated protein X-1
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Synonyms
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HCLSBP1; HS1BP1; SCN3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000403848
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InnateDB Gene
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IDBG-102924 (HAX1)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle {ECO:0000250}. Sarcoplasmic reticulum {ECO:0000250}.
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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}.
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Tissue Specificity |
Ubiquitous. Up-regulated in oral cancers. {ECO:0000269PubMed:17545607, ECO:0000269PubMed:9058808}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
54
[view]
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Protein-DNA |
5
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
GO:0014068
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positive regulation of phosphatidylinositol 3-kinase signaling
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GO:0030833
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regulation of actin filament polymerization
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GO:0030854
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positive regulation of granulocyte differentiation
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GO:0033138
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positive regulation of peptidyl-serine phosphorylation
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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GO:0050731
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positive regulation of peptidyl-tyrosine phosphorylation
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GO:0051897
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positive regulation of protein kinase B signaling
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GO:0071345
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cellular response to cytokine stimulus
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GO:2000251
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positive regulation of actin cytoskeleton reorganization
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O00165
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PhosphoSite |
PhosphoSite-O00165
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
10456
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UniGene |
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RefSeq |
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HUGO |
HGNC:16915
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OMIM |
605998
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CCDS |
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HPRD |
12075
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IMGT |
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EMBL |
AK290626
AK294298
AK300676
AL354980
BC005240
BC014314
BC015209
BC016730
CH471121
EU190982
EU190983
U68566
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GenPept |
AAB51196
AAH05240
AAH14314
AAH15209
AAH16730
ABW73998
ABW73999
BAF83315
BAG57580
BAG62359
CAH70479
CAH70481
EAW53212
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