| UniProt ID | HAX1_HUMAN | |
|---|---|---|
| UniProt AC | O00165 | |
| Protein Name | HCLS1-associated protein X-1 | |
| Gene Name | HAX1 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 279 | |
| Subcellular Localization |
Mitochondrion . Endoplasmic reticulum . Nucleus membrane . Cytoplasmic vesicle . Cytoplasm, cell cortex . Cell membrane Peripheral membrane protein Cytoplasmic side . Sarcoplasmic reticulum . Cytoplasm, P-body . Isoform 1: Cytoplasm . Nucleus . |
|
| Protein Description | 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] | |
| Protein Sequence | MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 2 | Acetylation | ------MSLFDLFRG ------CCHHHHHHC | 37.43 | 25944712 | |
| 53 | Phosphorylation | RGNPRFHSPQHPPEE CCCCCCCCCCCCCHH | 24.44 | - | |
| 66 | Phosphorylation | EEFGFGFSFSPGGGI HHHCCCCEECCCCCC | 25.79 | - | |
| 68 | Phosphorylation | FGFGFSFSPGGGIRF HCCCCEECCCCCCEE | 22.80 | - | |
| 83 (in isoform 5) | Ubiquitination | - | 44.81 | 21890473 | |
| 98 (in isoform 6) | Phosphorylation | - | 7.85 | 22210691 | |
| 105 (in isoform 3) | Ubiquitination | - | 50.78 | 21890473 | |
| 115 (in isoform 6) | Phosphorylation | - | 38.30 | 22210691 | |
| 123 (in isoform 6) | Phosphorylation | - | 32.39 | 22210691 | |
| 124 | Phosphorylation | ERLREGQTLRDSMLK HHHCCCCCHHHHHHC | 34.32 | - | |
| 131 (in isoform 1) | Ubiquitination | - | 46.20 | 21890473 | |
| 131 | Ubiquitination | TLRDSMLKYPDSHQP CHHHHHHCCCCCCCC | 46.20 | 21890473 | |
| 132 | Nitration | LRDSMLKYPDSHQPR HHHHHHCCCCCCCCC | 14.33 | - | |
| 139 (in isoform 2) | Ubiquitination | - | 30.23 | 21890473 | |
| 139 | Ubiquitination | YPDSHQPRIFGGVLE CCCCCCCCEECEEEC | 30.23 | 21906983 | |
| 139 | Methylation | YPDSHQPRIFGGVLE CCCCCCCCEECEEEC | 30.23 | - | |
| 151 | Phosphorylation | VLESDARSESPQPAP EECCCCCCCCCCCCC | 44.11 | 21712546 | |
| 153 | Phosphorylation | ESDARSESPQPAPDW CCCCCCCCCCCCCCC | 30.04 | 25159151 | |
| 162 | Phosphorylation | QPAPDWGSQRPFHRF CCCCCCCCCCCCCCC | 20.82 | 23186163 | |
| 179 (in isoform 6) | Phosphorylation | - | 44.73 | 26503514 | |
| 181 | Phosphorylation | PMDPHPRTREDNDLD CCCCCCCCCCCCCHH | 42.75 | 21406692 | |
| 189 | Phosphorylation | REDNDLDSQVSQEGL CCCCCHHHHHHHCCC | 39.52 | 24114839 | |
| 192 | Phosphorylation | NDLDSQVSQEGLGPV CCHHHHHHHCCCCCC | 18.19 | 21712546 | |
| 205 | Ubiquitination | PVLQPQPKSYFKSIS CCCCCCCCCCEEEEE | 53.17 | 21906983 | |
| 209 | Ubiquitination | PQPKSYFKSISVTKI CCCCCCEEEEEEEEE | 38.35 | 2190698 | |
| 210 | Phosphorylation | QPKSYFKSISVTKIT CCCCCEEEEEEEEEE | 15.36 | 21406692 | |
| 212 | Phosphorylation | KSYFKSISVTKITKP CCCEEEEEEEEEECC | 30.72 | 21406692 | |
| 213 (in isoform 2) | Ubiquitination | - | 6.35 | - | |
| 213 | Ubiquitination | SYFKSISVTKITKPD CCEEEEEEEEEECCC | 6.35 | 21906983 | |
| 214 | Phosphorylation | YFKSISVTKITKPDG CEEEEEEEEEECCCC | 15.22 | 21406692 | |
| 215 | Ubiquitination | FKSISVTKITKPDGI EEEEEEEEEECCCCC | 46.34 | - | |
| 217 (in isoform 2) | Ubiquitination | - | 37.77 | - | |
| 217 | Phosphorylation | SISVTKITKPDGIVE EEEEEEEECCCCCEE | 37.77 | 21406692 | |
| 217 | Ubiquitination | SISVTKITKPDGIVE EEEEEEEECCCCCEE | 37.77 | 21906983 | |
| 218 | Ubiquitination | ISVTKITKPDGIVEE EEEEEEECCCCCEEE | 44.58 | - | |
| 255 | Phosphorylation | SPRGDPESPRPPALD CCCCCCCCCCCCCHH | 31.43 | 21406692 | |
| 266 | Phosphorylation | PALDDAFSILDLFLG CCHHHHHHHHHHHHH | 24.78 | 21406692 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
| 210 | S | Phosphorylation | Kinase | PKCD | Q05655 | PSP |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of HAX1_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of HAX1_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00100 | Neutropenic disorders, including the following three diseases: Kostmann syndrome; Cyclic neutropenia | |||||
| OMIM Disease | ||||||
| 610738 | Neutropenia, severe congenital 3, autosomal recessive (SCN3) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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