Entity Details

Primary name HAX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00165
EntryNameHAX1_HUMAN
FullNameHCLS1-associated protein X-1
TaxID9606
Evidenceevidence at protein level
Length279
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesHAX1

GO terms

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GOName
GO:0000932 P-body
GO:0005635 nuclear envelope
GO:0005667 transcription regulator complex
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005758 mitochondrial intermembrane space
GO:0005783 endoplasmic reticulum
GO:0005938 cell cortex
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0015629 actin cytoskeleton
GO:0016324 apical plasma membrane
GO:0016529 sarcoplasmic reticulum
GO:0019966 interleukin-1 binding
GO:0030027 lamellipodium
GO:0030136 clathrin-coated vesicle
GO:0030833 regulation of actin filament polymerization
GO:0030854 positive regulation of granulocyte differentiation
GO:0031965 nuclear membrane
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0042981 regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0047485 protein N-terminus binding
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:1903146 regulation of autophagy of mitochondrion
GO:1903214 regulation of protein targeting to mitochondrion
GO:2000251 positive regulation of actin cytoskeleton reorganization

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm
Cytoplasmic vesicle
Endoplasmic reticulum
Mitochondrion
Nucleus
Nucleus membrane
Sarcoplasmic reticulum

Domains

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DomainNameCategoryType
IPR017248 HS1-associating protein X-1FamilyFamily

Diseases

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Disease IDSourceNameDescription
610738 OMIMNeutropenia, severe congenital 3, autosomal recessive (SCN3)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. 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).

Interactions

58 interactions

InteractorPartnerSourcesPublicationsLink
HAX1_HUMANDGKD_HUMANBioGRID, HPRD, IntAct16169070 details
HAX1_HUMANEIF3F_HUMANBioGRID, HPRD, IntAct16189514 details
HAX1_HUMANESR1_HUMANI2D21217774 details
HAX1_HUMANPP2BC_HUMANBioGRID, IntAct21988832 details
HAX1_HUMANSTA5B_HUMANBioGRID, IntAct21988832 details
HAX1_HUMANMK10_HUMANBioGRID, IntAct21988832 23602568 details
HAX1_HUMANRFA1_HUMANBioGRID, IntAct21988832 details
HAX1_HUMANRBX1_HUMANBioGRID, IntAct21988832 30349055 details
HAX1_HUMANRPA12_HUMANBioGRID, IntAct21988832 details
HAX1_HUMANRPAC2_HUMANBioGRID, IntAct21988832 details
HAX1_HUMANZN420_HUMANBioGRID, IntAct21988832 details
HAX1_HUMANGRB7_HUMANUniProt20665473 details
HAX1_HUMANTPC2_HUMANMINT24188827 details
HAX1_HUMANTPC1_HUMANMINT24188827 details
HAX1_HUMANHD_HUMANIntAct17500595 32814053 details
HAX1_HUMANPKD2_HUMANbhf-ucl, HPRD10760273 details
HAX1_HUMANBKRB2_HUMANIntAct24211782 details
HAX1_HUMANIL1A_HUMANBioGRID, DIP, HPRD, IntAct11554782 16971486 25416956 details
HAX1_HUMANSAV1_HUMANIntAct21567072 22570112 details
HAX1_HUMANPELO_HUMANUniProt20406461 details
HAX1_HUMANNAL12_HUMANI2D32226298 details
HAX1_HUMAN1433G_HUMANIntAct32814053 details
HAX1_HUMANSETB1_HUMANIntAct32814053 details
HAX1_HUMANKAT5_HUMANIntAct32814053 details
HAX1_HUMANLMO3_HUMANIntAct32814053 details
HAX1_HUMANHNF4G_HUMANBioGRID15604093 details
HAX1_HUMANSVIL_HUMANBioGRID, HPRD20309963 details
HAX1_HUMANNED4L_HUMANBioGRID19664597 details
HAX1_HUMANRPC22_HUMANBioGRID21988832 details
HAX1_HUMANBIRC3_HUMANBioGRID25275296 30948266 details
HAX1_HUMANRN217_HUMANBioGRID25298122 details
HAX1_HUMANAPRIO_HUMANBioGRID21301993 details
HAX1_HUMANPRIO_HUMANBioGRID21301993 details
HAX1_HUMANHCLS1_HUMANHPRD9058808 details
HAX1_HUMAN1433T_HUMANHPRD9058808 details
HAX1_HUMANABCBB_HUMANHPRD15159385 details
HAX1_HUMANMDR1_HUMANHPRD15159385 details
HAX1_HUMANMDR3_HUMANHPRD15159385 details
HAX1_HUMANK0513_HUMANHPRD17010949 details
HAX1_HUMANM3K3_HUMANIntAct14743216 details
HAX1_HUMANTF65_HUMANIntAct14743216 details
HAX1_HUMANTNR1A_HUMANIntAct14743216 details
HAX1_HUMANTNR1B_HUMANIntAct14743216 details
HAX1_HUMANT22D1_HUMANIntAct17353931 details
HAX1_HUMANXPO1_HUMANBioGRID, MINT23164465 26673895 details
HAX1_HUMANDCP1A_HUMANMINT23164465 details
HAX1_HUMANMLF1_HUMANBioGRID, IntAct25036637 32877691 details
HAX1_HUMANPSMD2_HUMANIntAct25036637 details
HAX1_HUMANMLF2_HUMANIntAct25036637 details
HAX1_HUMANXIAP_HUMANBioGRID20171186 details
HAX1_HUMANHTRA2_HUMANBioGRID17906618 31617661 details
HAX1_HUMANABCE1_HUMANBioGRID25659154 32877691 details
HAX1_HUMANACK1_HUMANBioGRID28739485 details
HAX1_HUMANBECN1_HUMANBioGRID20467442 details
HAX1_HUMANHS90A_HUMANBioGRID29139175 29311840 details
HAX1_HUMANCLPB_HUMANBioGRID31048321 32877691 details
HAX1_HUMANFBX25_HUMANBioGRID32893878 details
HAX1_HUMANSRC8_HUMANHPRD15159385 details