Seroatlas · Human Serome Atlas

HAX1

HCLS1-associated protein X-1

Also known as: HAX-1, HAX1_HUMAN, HCLSBP1, HS1BP1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O00165
Gene: HAX1
Ensembl: ENSG00000143575
Chromosome: 1
Canonical length: 279 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

279 residues, UniProt reviewed canonical sequence.

>O00165|HAX1
     1  MSLFDLFRGF FGFPGPRSHR DPFFGGMTRD EDDDEEEEEE GGSWGRGNPR FHSPQHPPEE
    61  FGFGFSFSPG GGIRFHDNFG FDDLVRDFNS IFSDMGAWTL PSHPPELPGP ESETPGERLR
   121  EGQTLRDSML KYPDSHQPRI FGGVLESDAR SESPQPAPDW GSQRPFHRFD DVWPMDPHPR
   181  TREDNDLDSQ VSQEGLGPVL QPQPKSYFKS ISVTKITKPD GIVEERRTVV DSEGRTETTV
   241  TRHEADSSPR GDPESPRPPA LDDAFSILDL FLGRWFRSR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HAX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.61
Highest tissue expression: 235 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 235 nTPM
tongue: 224 nTPM
heart muscle: 172 nTPM
choroid plexus: 115 nTPM
pituitary gland: 98 nTPM
liver: 95 nTPM

Single-cell type

late primary spermatocytes: 302 nCPM
plasma cells: 201 nCPM
esophageal suprabasal cells: 199 nCPM
early primary spermatocytes: 182 nCPM
esophageal basal cells: 171 nCPM
extravillous trophoblasts: 165 nCPM

Immune cell

basophil: 253 nTPM
eosinophil: 204 nTPM
T-reg: 175 nTPM
total PBMC: 161 nTPM
naive CD4 T-cell: 155 nTPM
non-classical monocyte: 146 nTPM

Brain region

hypothalamus: 60 nTPM
spinal cord: 55 nTPM
basal ganglia: 55 nTPM
thalamus: 55 nTPM
cerebellum: 54 nTPM
white matter: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HAX1.

Disease | AllUniProt

Conditions HAX1 is implicated in, by any mechanism.

Neutropenia, severe congenital 3, autosomal recessive (SCN3) MIM:610738

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 689 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.38
gnomAD pLI: 0
gnomAD missense Z: 0.14
DepMap mean gene effect: -0.27
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

HS1-associating protein X-1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HAX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HAX1 as an antibody target. Whether an autoantibody or antibody against HAX1 could matter depends on whether native HAX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HAX1 is annotated at the cell surface, where native HAX1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label HAX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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