| Tbio | HCLS1-associated protein X-1 |
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.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neutropenia, Severe Congenital, Autosomal Recessive 3 | 2 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 5112 | 2.6e-05 |
| glioblastoma | 5792 | 3.1e-05 |
| medulloblastoma, large-cell | 6241 | 1.6e-04 |
| adult high grade glioma | 3801 | 2.9e-04 |
| diabetes mellitus | 1728 | 3.9e-03 |
| group 4 medulloblastoma | 1855 | 8.3e-03 |
| non primary Sjogren syndrome sicca | 891 | 3.9e-02 |
| Disease | Target Count |
|---|---|
| Severe congenital neutropenia 3, autosomal recessive | 1 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.500 | 2.9e-04 |
| atypical teratoid / rhabdoid tumor | -1.300 | 2.6e-05 |
| diabetes mellitus | -1.200 | 3.9e-03 |
| glioblastoma | -1.400 | 3.1e-05 |
| group 4 medulloblastoma | -1.100 | 8.3e-03 |
| medulloblastoma, large-cell | -1.500 | 1.6e-04 |
| non primary Sjogren syndrome sicca | 1.200 | 3.9e-02 |
DPYSL5
STXBP1
PRKAR2B
ATP4A
HPCAL1
NCALD
HPCA
CAMK2B
CAMK2A
GPM6B
HIST1H1B
HIST1H2BL
DCX
DCLK1
NCAM1
SNAP91
SYT1
VSNL1
SYN2
SYN1
CRMP1
DPYSL3
DPYSL2
DNM1
EPB41L1
DNM1L
GPD2
MAPRE3
GNAO1
GNG2
ANK2
CALB2
RAB6B
GRIA2
CNTN1
STX1A
STX1B
LASP1
NDRG4
NTM
NAPB
MAPT
CDK20
MAP2
APOD
CAMKV
RAB3A
EDIL3
DPP6
L1CAM
MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEEFGFGFSFSPG 1 - 70 GGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRI 71 - 140 FGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKS 141 - 210 ISVTKITKPDGIVEERRTVVDSEGRTETTVTRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR 211 - 279 //
