| Gene Symbol |
ATRX
|
| Entrez Gene |
546
|
| Alt Symbol |
ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
alpha thalassemia/mental retardation syndrome X-linked
|
| Other Description |
ATP-dependent helicase ATRX|DNA dependent ATPase and helicase|X-linked helicase II|X-linked nuclear protein|Zinc finger helicase|alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)|helicase 2, X-linked|transcriptional regulator ATRX
|
| Swissprots |
Q5H9A2 D3DTE2 Q59H31 Q9NTS3 P46100 Q59FB5 Q15886 Q7Z2J1 P51068 Q5JWI4 Q9H0Z1
|
| Accessions |
AAA20872 AAB40698 AAB40699 AAB40700 AAC51655 AAC51657 ABO43036 AGL61631 AIA09018 AIA09019 AIA09020 BAC80270 BAC80271 BAC80272 BAC80273 BAC80274 BAC80275 BAC80276 BAC80277 BAC80278 BAC80279 BAC80280 BAC80281 BAC80282 BAC80283 BAC80284 BAC80285 BAC80286 BAC80287 BAC80288 BAC80289 CAA58711 CAB90351 CAI40710 CAI42674 CAI42675 CAI42677 CAI43115 CAI43116 CAI43117 CCQ42985 CCQ42986 EAW98611 EAW98612 EAW98613 EAW98614 EAW98615 P46100 AA484729 AA732359 AB102641 BAC81110 AB208928 BAD92165 AB209545 BAD92782 AI733378 AK293241 BAH11474 AK295107 BAG58140 AK296959 BAG59503 AK297183 BAG59673 AK307791 AK308419 BC002521 AAH02521 BC156296 AAI56297 BE927791 BM714186 BQ189245 BT007188 AAP35852 BX647222 CB114986 DA759777 DA791316 DR422800 L33812 U09820 AAC50069 U72936 AAB49969 U72937 AAB49970 U72938 AAB49971 XM_005262153 XP_005262210 XM_005262154 XP_005262211 XM_005262155 XP_005262212 XM_005262156 XP_005262213 XM_005262157 XP_005262214 XM_006724666 XP_006724729 XM_006724667 XP_006724730 XM_006724668 XP_006724731 XR_938400 NM_000489 NP_000480 NM_138270 NP_612114 NM_138271
|
| Function |
Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3- containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S- phase and telomeres, and the in vitro remodeling of H3.3- containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in em
|
| Subcellular Location |
Nucleus. Chromosome, telomere. Nucleus, PML body. Note=Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with CBX5/HP1 alpha. Colocalizes with histone H3.3, DAXX, HIRA and ASF1A at PML- nuclear bodies. Colocalizes with cohesin (SMC1 and SMC3) and MECP2 at the maternal H19 ICR (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Ubiquitous.
|