Information on HAX1
Alt. symbols: HS1BP1 | HCLSBP1 | HAX-1
Approved name: HCLS1 associated protein X-1
Alt. names: HCLS1 (and PKD2) associated protein
Location: 1q21.3: 154272355 - 154275875 (+)
Gene type: protein_coding, 24 transcripts.
Scores: LoFtool: 0.976000 | pLI: 0.00001106 | LOEUF: 1.375
Gene Ontology (GO)
- Molecular function:
- Cell component: apical plasma membrane [GO:0016324]; sarcoplasmic reticulum [GO:0016529]; mitochondrion [GO:0005739]; actin cytoskeleton [GO:0015629]; clathrin-coated vesicle [GO:0030136]
- Biological process: negative regulation of apoptotic process [GO:0043066]; regulation of actin filament polymerization [GO:0030833]
Normal function
Dysfunction and disease
Neutropenia, severe congenital 3, autosomal recessive [MIM:610738] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SNC3 |
Severe congenital neutropenia 3 | AR |
610738 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of HAX1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000328703.12 | 1 | CCDS1064 | Select | protein_coding | 7 | Yes | 1109 | NM_006118 |
| 204 | ENST00000457918.6 | CCDS44230 | protein_coding | 7 | No | 914 | NM_001018837 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in HAX1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|