HAX1
entrez
10456
canonical
uniprot
O00165
canonical
ensembl
ENSG00000143575
resolver
ensp
ENSP00000329002
resolver
ensp
ENSP00000411448
resolver
genesymbol
HAX1
resolver
genesymbol_syn
HS1BP1
resolver
hgnc
HGNC:16915
resolver
uniprot
A0A0S2Z565
resolver
uniprot
A0A0S2Z591
resolver
uniprot
A8W4W9
resolver
uniprot
A8W4X0
resolver
uniprot
B4DUJ7
resolver
uniprot
Q5VYD5
resolver
uniprot
Q5VYD7
resolver
uniprot
Q96AU4
resolver
uniprot
Q9BS80
resolver
uniprot_entry
A0A0S2Z565_HUMAN
resolver
uniprot_entry
A0A0S2Z591_HUMAN
resolver
uniprot_entry
HAX1_HUMAN
resolver
uniprot_sec
A8W4W9
resolver
uniprot_sec
A8W4X0
resolver
uniprot_sec
B4DUJ7
resolver
uniprot_sec
Q5VYD5
resolver
uniprot_sec
Q5VYD7
resolver
uniprot_sec
Q96AU4
resolver
uniprot_sec
Q9BS80
resolver
amino_acid_sequence
MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17187068, ECO:0000269|PubMed:18337561, ECO:0000269|PubMed:19796188, ECO:0000269|PubMed:20220065}. Note=The disease is caused by variants 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:0000269|PubMed:18337561}.
uniprot
proteins
function
FUNCTION: Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes 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. Promotes cell survival. May regulate intracellular calcium pools. {ECO:0000269|PubMed:15339924, ECO:0000269|PubMed:16857965, ECO:0000269|PubMed:17545607, ECO:0000269|PubMed:18319618, ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:26997484, ECO:0000269|PubMed:9058808}.
uniprot
proteins
mass_dalton
31621
uniprot
proteins
post_translational_modification
PTM: Proteolytically cleaved by caspase-3 during apoptosis. {ECO:0000269|PubMed:18319618}.
uniprot
proteins
protein_family
HAX1 family
uniprot
proteins
pubmed
10760273
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15339924
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16857965
uniprot
proteins
pubmed
17187068
uniprot
proteins
pubmed
17241641
uniprot
proteins
pubmed
17545607
uniprot
proteins
pubmed
18319618
uniprot
proteins
pubmed
18337561
uniprot
proteins
pubmed
18472110
uniprot
proteins
pubmed
18971376
uniprot
proteins
pubmed
19796188
uniprot
proteins
pubmed
20171186
uniprot
proteins
pubmed
20220065
uniprot
proteins
pubmed
20665473
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23164465
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24188827
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25298122
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26527684
uniprot
proteins
pubmed
26915802
uniprot
proteins
pubmed
26997484
uniprot
proteins
pubmed
9058808
uniprot
proteins
sequence_length
279
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:9058808}. Endoplasmic reticulum {ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:9058808}. Nucleus membrane {ECO:0000269|PubMed:9058808}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:O35387}. Cytoplasm, cell cortex {ECO:0000269|PubMed:26997484}. Cell membrane {ECO:0000269|PubMed:26997484}; Peripheral membrane protein {ECO:0000269|PubMed:26997484}; Cytoplasmic side {ECO:0000269|PubMed:26997484}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:Q7TSE9}. Cytoplasm, P-body {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:23164465, ECO:0000269|PubMed:25298122}. Nucleus {ECO:0000269|PubMed:23164465}. Note=Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited, and in response to cellular stress caused by arsenite (in vitro). {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:23164465}. Nucleus {ECO:0000269|PubMed:23164465}. Note=Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited (in vitro). {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm {ECO:0000269|PubMed:23164465}. Nucleus {ECO:0000269|PubMed:23164465}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm {ECO:0000269|PubMed:23164465}. Note=Predominantly cytoplasmic. {ECO:0000269|PubMed:23164465}.
uniprot
proteins