|
|
|
|
|
|
Description:
Transcriptional regulator ATRX (EC 3.6.1.-) (ATP-dependent helicaseATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX).
Molecular weight: 2825
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 )
Important dates:
01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
02-NOV-2001, sequence version 3.
07-MAR-2006, entry version 63.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Catarrhini Hominidae Homo.
To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html
Links to references in other databases for protein ATRX_HUMAN:
Keywords:
Alternative splicing; ATP-binding; Deafness; Disease mutation; DNA damage; DNA repair; DNA-binding; Helicase; Hydrolase; Metal-binding; Nuclear protein; Nucleotide-binding; Phosphorylation; Polymorphism; Zinc; Zinc-finger.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), VARIANTS
RP SER-596; GLU-740 AND SER-1860, AND VARIANTS ATR-X.
RX MEDLINE=97123494; PubMed=8968741; DOI=10.1093/hmg/5.12.1899;
RA Picketts D.J., Higgs D.R., Bachoo S., Blake D.J., Quarrell O.W.J.,
RA Gibbons R.J.;
RT "ATRX encodes a novel member of the SNF2 family of proteins: mutations
RT point to a common mechanism underlying the ATR-X syndrome.";
RL Hum. Mol. Genet. 5:1899-1907(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4).
RX MEDLINE=97386582; PubMed=9244431; DOI=10.1006/geno.1997.4793;
RA Villard L., Lossi A.-M., Cardoso C., Proud V., Chiaroni P.,
RA Colleaux L., Schwartz C., Fontes M.;
RT "Determination of the genomic structure of the XNP/ATRX gene encoding
RT a potential zinc finger helicase.";
RL Genomics 43:149-155(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF
RP 163-198, AND VARIANTS SER-596 AND GLU-740.
RX MEDLINE=22763540; PubMed=12777533; DOI=10.1093/molbev/msg134;
RA Kitano T., Schwarz C., Nickel B., Paabo S.;
RT "Gene diversity patterns at 10 X-chromosomal loci in humans and
RT chimpanzees.";
RL Mol. Biol. Evol. 20:1281-1289(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE
RP SEQUENCE [MRNA] OF 704-1927 (ISOFORMS 1/2/3/4/5), AND VARIANTS GLU-740
RP AND GLU-929.
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno F.R.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 860-2492.
RX MEDLINE=95179111; PubMed=7874112;
RA Stayton C.L., Dabovic B., Gulisano M., Gecz J., Broccoli V.,
RA Giovanazzi S., Bossolasco M., Monaco L., Rastan S., Boncinelli E.,
RA Bianchi M.E., Consalez G.G.;
RT "Cloning and characterization of a new human Xq13 gene, encoding a
RT putative helicase.";
RL Hum. Mol. Genet. 3:1957-1964(1994).
RN [7]
RP PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX MEDLINE=94214473; PubMed=8162050;
RA Gecz J., Pollard H., Consalez G., Villard L., Stayton C.L.,
RA Millasseau P., Khrestchatisky M., Fontes M.;
RT "Cloning and expression of the murine homologue of a putative human X-
RT linked nuclear protein gene closely linked to PGK1 in Xq13.3.";
RL Hum. Mol. Genet. 3:39-44(1994).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2401-2492, AND VARIANTS ATR-X.
RX MEDLINE=95211835; PubMed=7697714; DOI=10.1016/0092-8674(95)90287-2;
RA Gibbons R.J., Picketts D.J., Villard L., Higgs D.R.;
RT "Mutations in a putative global transcriptional regulator cause X-
RT linked mental retardation with alpha-thalassemia (ATR-X syndrome).";
RL Cell 80:837-845(1995).
RN [9]
RP EZH2 BINDING.
RX MEDLINE=98167853; PubMed=9499421; DOI=10.1093/hmg/7.4.679;
RA Cardoso C., Timsit S., Villard L., Khrestchatisky M., Fontes M.,
RA Colleaux L.;
RT "Specific interaction between the XNP/ATR-X gene product and the SET
RT domain of the human EZH2 protein.";
RL Hum. Mol. Genet. 7:679-684(1998).
RN [10]
RP SUBCELLULAR LOCATION, AND ASSOCIATION WITH PERICENTROMERIC
RP HETEROCHROMATIN.
RX MEDLINE=20040663; PubMed=10570185; DOI=10.1073/pnas.96.24.13983;
RA McDowell T.L., Gibbons R.J., Sutherland H., O'Rourke D.M.,
RA Bickmore W.A., Pombo A., Turley H., Gatter K., Picketts D.J.,
RA Buckle V.J., Chapman L., Rhodes D., Higgs D.R.;
RT "Localization of a putative transcriptional regulator (ATRX) at
RT pericentromeric heterochromatin and the short arms of acrocentric
RT chromosomes.";
RL Proc. Natl. Acad. Sci. U.S.A. 96:13983-13988(1999).
RN [11]
RP DISEASE.
RX MEDLINE=20213147; PubMed=10751095;
RX DOI=10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.3.CO;2-E;
RA Villard L., Fontes M., Ades L.C., Gecz J.;
RT "Identification of a mutation in the XNP/ATR-X gene in a family
RT reported as Smith-Fineman-Myers syndrome.";
RL Am. J. Med. Genet. 91:83-85(2000).
RN [12]
RP DISEASE.
RX MEDLINE=22804448; PubMed=12858175; DOI=10.1038/ng1213;
RA Gibbons R.J., Pellagatti A., Garrick D., Wood W.G., Malik N.,
RA Ayyub H., Langford C., Boultwood J., Wainscoat J.S., Higgs D.R.;
RT "Identification of acquired somatic mutations in the gene encoding
RT chromatin-remodeling factor ATRX in the alpha-thalassemia
RT myelodysplasia syndrome (ATMDS).";
RL Nat. Genet. 34:446-449(2003).
RN [13]
RP PHOSPHORYLATION SITE SER-34.
RX PubMed=15302935; DOI=10.1073/pnas.0404720101;
RA Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J.,
RA Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
RT "Large-scale characterization of HeLa cell nuclear phosphoproteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
RN [14]
RP INTERACTION WITH CBX5.
RX PubMed=15882967; DOI=10.1016/j.bbrc.2005.04.016;
RA Lechner M.S., Schultz D.C., Negorev D., Maul G.G., Rauscher F.J. III;
RT "The mammalian heterochromatin protein 1 binds diverse nuclear
RT proteins through a common motif that targets the chromoshadow
RT domain.";
RL Biochem. Biophys. Res. Commun. 331:929-937(2005).
RN [15]
RP VARIANT ATR-X SER-1713.
RX MEDLINE=97196774; PubMed=9043863;
RA Villard L., Lacombe D., Fontes M.;
RT "A point mutation in the XNP gene, associated with an ATR-X phenotype
RT without alpha-thalassemia.";
RL Eur. J. Hum. Genet. 4:316-320(1996).
RN [16]
RP VARIANT JM GLN-2131.
RX MEDLINE=96224392; PubMed=8630485;
RA Villard L., Gecz J., Mattei J.-F., Fontes M., Saugier-Veber P.,
RA Munnich A., Lyonnet S.;
RT "XNP mutation in a large family with Juberg-Marsidi syndrome.";
RL Nat. Genet. 12:359-360(1996).
RN [17]
RP VARIANTS ATR-X.
RX MEDLINE=97467722; PubMed=9326931;
RA Gibbons R.J., Bachoo S., Picketts D.J., Aftimos S., Asenbauer B.,
RA Bergoffen J., Berry S.A., Dahl N., Fryer A., Keppler K., Kurosawa K.,
RA Levin M.L., Masuno M., Neri G., Pierpont M.E., Slaney S.F.,
RA Higgs D.R.;
RT "Mutations in transcriptional regulator ATRX establish the functional
RT significance of a PHD-like domain.";
RL Nat. Genet. 17:146-148(1997).
RN [18]
RP VARIANT ATR-X LEU-246.
RX MEDLINE=20123062; PubMed=10660327;
RA Fichera M., Romano C., Castiglia L., Failla P., Ruberto C., Amata S.,
RA Greco D., Cardoso C., Fontes M., Ragusa A.;
RT "New mutations in XNP/ATR-X gene: a further contribution to
RT genotype/phenotype relationship in ATR/X syndrome.";
RL Hum. Mutat. 12:214-214(1998).
RN [19]
RP VARIANT ATR-X LYS-1742.
RX MEDLINE=99347960; PubMed=10417298;
RA Lossi A.-M., Millan J.M., Villard L., Orellana C., Cardoso C.,
RA Prieto F., Fontes M., Martinez F.;
RT "Mutation of the XNP/ATR-X gene in a family with severe mental
RT retardation, spastic paraplegia and skewed pattern of X inactivation:
RT demonstration that the mutation is involved in the inactivation
RT bias.";
RL Am. J. Hum. Genet. 65:558-562(1999).
RN [20]
RP VARIANT CWS THR-2050.
RX MEDLINE=99326061; PubMed=10398237;
RX DOI=10.1002/(SICI)1096-8628(19990730)85:3<249::AID-AJMG12>3.0.CO;2-U;
RA Abidi F., Schwartz C.E., Carpenter N.J., Villard L., Fontes M.,
RA Curtis M.;
RT "Carpenter-Waziri syndrome results from a mutation in XNP.";
RL Am. J. Med. Genet. 85:249-251(1999).
RN [21]
RP VARIANTS ATR-X GLU-175; 178-VAL--LYS-198 DEL; SER-190; PRO-219;
RP LEU-246 AND CYS-249.
RX MEDLINE=99219535; PubMed=10204841;
RA Villard L., Bonino M.-C., Abidi F., Ragusa A., Belougne J.,
RA Lossi A.-M., Seaver L., Bonnefont J.-P., Romano C., Fichera M.,
RA Lacombe D., Hanauer A., Philip N., Schwartz C.E., Fontes M.;
RT "Evaluation of a mutation screening strategy for sporadic cases of
RT ATR-X syndrome.";
RL J. Med. Genet. 36:183-186(1999).
RN [22]
RP VARIANTS ATR-X SER-179; LEU-190; ILE-194; CYS-246; PHE-1552; SER-1645
RP AND CYS-1847.
RX MEDLINE=20451413; PubMed=10995512;
RX DOI=10.1002/1096-8628(20000918)94:3<242::AID-AJMG11>3.3.CO;2-B;
RA Wada T., Kubota T., Fukushima Y., Saitoh S.;
RT "Molecular genetic study of Japanese patients with X-linked alpha-
RT thalassemia/mental retardation syndrome (ATR-X).";
RL Am. J. Med. Genet. 94:242-248(2000).
RN [23]
RP VARIANT ATR-X MET-1621.
RX MEDLINE=22108790; PubMed=12116232; DOI=10.1002/ajmg.10446;
RA Yntema H.G., Poppelaars F.A., Derksen E., Oudakker A.R.,
RA van Roosmalen T., Jacobs A., Obbema H., Brunner H.G., Hamel B.C.J.,
RA van Bokhoven H.;
RT "Expanding phenotype of XNP mutations: mild to moderate mental
RT retardation.";
RL Am. J. Med. Genet. 110:243-247(2002).
Feature:
CHAIN 1 2492 Transcriptional regulator ATRX.
/FTId=PRO_0000074301.
ZN_FING 220 268 PHD-type.
NP_BIND 1594 1601 ATP (Potential).
MOTIF 581 594 PxVxL motif.
MOTIF 1719 1722 DEGH box.
COMPBIAS 745 750 Poly-Ser.
COMPBIAS 1151 1156 Poly-Ser.
COMPBIAS 1166 1169 Poly-Lys.
COMPBIAS 1202 1206 Poly-Ser.
COMPBIAS 1259 1266 Poly-Asp.
COMPBIAS 1443 1466 Poly-Glu.
COMPBIAS 1499 1502 Poly-Glu.
COMPBIAS 1929 1939 Poly-Lys.
COMPBIAS 1941 1948 Poly-Ser.
COMPBIAS 2222 2225 Poly-Lys.
COMPBIAS 2262 2265 Poly-Glu.
COMPBIAS 2420 2425 Poly-Gln.
MOD_RES 34 34 Phosphoserine.
VARSPLIC 1 204 Missing (in isoform 1).
/FTId=VSP_000575.
VARSPLIC 1 117 Missing (in isoform 2 and isoform 5).
/FTId=VSP_000574.
VARSPLIC 124 162 Missing (in isoform 6).
/FTId=VSP_015499.
VARSPLIC 124 161 Missing (in isoform 3 and isoform 5).
/FTId=VSP_000576.
VARSPLIC 573 601 Missing (in isoform 6).
/FTId=VSP_015500.
VARSPLIC 1419 2492 Missing (in isoform 6).
/FTId=VSP_015501.
VARIANT 175 175 G -> E (in ATR-X).
/FTId=VAR_012113.
VARIANT 178 198 Missing (in ATR-X).
/FTId=VAR_012114.
VARIANT 179 179 N -> S (in ATR-X).
/FTId=VAR_012115.
VARIANT 190 190 P -> A (in ATR-X).
/FTId=VAR_001226.
VARIANT 190 190 P -> L (in ATR-X).
/FTId=VAR_012116.
VARIANT 190 190 P -> S (in ATR-X).
/FTId=VAR_012117.
VARIANT 192 192 L -> F (in ATR-X).
/FTId=VAR_001227.
VARIANT 194 194 V -> I (in ATR-X).
/FTId=VAR_012118.
VARIANT 200 200 C -> S (in ATR-X).
/FTId=VAR_001228.
VARIANT 219 219 Q -> P (in ATR-X).
/FTId=VAR_012119.
VARIANT 220 220 C -> R (in ATR-X).
/FTId=VAR_001229.
VARIANT 222 222 W -> S (in ATR-X).
/FTId=VAR_001230.
VARIANT 243 243 C -> F (in ATR-X).
/FTId=VAR_001231.
VARIANT 246 246 R -> C (in ATR-X).
/FTId=VAR_001232.
VARIANT 246 246 R -> L (in ATR-X).
/FTId=VAR_010914.
VARIANT 249 249 G -> C (in ATR-X).
/FTId=VAR_012120.
VARIANT 249 249 G -> D (in ATR-X).
/FTId=VAR_001233.
VARIANT 596 596 P -> S (in dbSNP:1051678).
/FTId=VAR_016914.
VARIANT 740 740 G -> E (in dbSNP:1051680).
/FTId=VAR_016915.
VARIANT 929 929 Q -> E (in dbSNP:3088074).
/FTId=VAR_023438.
VARIANT 1538 1538 V -> G (in ATR-X; could be a
polymorphism).
/FTId=VAR_012121.
VARIANT 1552 1552 V -> F (in ATR-X).
/FTId=VAR_012122.
VARIANT 1609 1609 H -> R (in ATR-X).
/FTId=VAR_001234.
VARIANT 1614 1614 C -> R (in ATR-X).
/FTId=VAR_001235.
VARIANT 1621 1621 T -> M (in ATR-X).
/FTId=VAR_016916.
VARIANT 1645 1645 L -> S (in ATR-X).
/FTId=VAR_012123.
VARIANT 1650 1650 K -> N (in ATR-X).
/FTId=VAR_001236.
VARIANT 1713 1713 P -> S (in ATR-X; without alpha-
thalassemia).
/FTId=VAR_012124.
VARIANT 1742 1742 R -> K (in ATR-X).
/FTId=VAR_012125.
VARIANT 1847 1847 Y -> C (in ATR-X).
/FTId=VAR_012126.
VARIANT 1860 1860 N -> S (rare polymorphism).
/FTId=VAR_001237.
VARIANT 2035 2035 D -> V (in ATR-X).
/FTId=VAR_001238.
VARIANT 2050 2050 I -> T (in Carpenter-Waziri syndrome).
/FTId=VAR_012127.
VARIANT 2084 2084 Y -> H (in ATR-X).
/FTId=VAR_001239.
VARIANT 2131 2131 R -> Q (in JM).
/FTId=VAR_001240.
VARIANT 2163 2163 Y -> C (in ATR-X).
/FTId=VAR_001241.
CONFLICT 879 879 A -> R (in Ref. 5).
CONFLICT 1286 1286 S -> P (in Ref. 4).
CONFLICT 1625 1632 VCPLNTAL -> GLSSSILAF (in Ref. 5).
CONFLICT 2259 2265 DHKEEEE -> TTKKKKR (in Ref. 5).
CONFLICT 2280 2280 A -> G (in Ref. 5).
CONFLICT 2283 2283 K -> R (in Ref. 5).
CONFLICT 2284 2284 V -> G (in Ref. 1; AAB40698/AAB49970/
AAB49971, 3, 5 and 8).
CONFLICT 2403 2431 SCVQRILMNRRLQQQYNQQQQQQMTYQQA -> QLCSANTY
EQKAPAAVQSAATATNDLSTT (in Ref. 5).
CONFLICT 2436 2436 L -> H (in Ref. 5).
CONFLICT 2442 2442 P -> R (in Ref. 5).
CONFLICT 2475 2492 APPPMRSKNPGPSQGKSM -> CTTPNEKQKIQDLPKGNQC
DFA (in Ref. 5).
Comments:
-!- FUNCTION: Could be a global transcriptional regulator. Modifies
gene expression by affecting chromatin. May be involved in brain
development and facial morphogenesis.
-!- SUBUNIT: Probably binds EZH2. Binds annexin V in a calcium and
phosphatidylcholine/phosphatidylserine-dependent manner (By
similarity). Interacts directly with CBX5 via the PxVxL motif.
-!- SUBCELLULAR LOCATION: Nuclear. Associated with pericentromeric
heterochromatin during interphase and mitosis, probably by
interacting with HP1.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=6;
Name=4;
IsoId=P46100-1; Sequence=Displayed;
Name=1;
IsoId=P46100-2; Sequence=VSP_000575;
Name=2;
IsoId=P46100-3; Sequence=VSP_000574;
Name=3;
IsoId=P46100-4; Sequence=VSP_000576;
Name=5;
IsoId=P46100-5; Sequence=VSP_000574, VSP_000576;
Name=6;
IsoId=P46100-6; Sequence=VSP_015499, VSP_015500, VSP_015501;
Note=No experimental confirmation available;
-!- TISSUE SPECIFICITY: Ubiquitous.
-!- DOMAIN: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is
required for interaction with chromoshadow domains. This motif
requires additional residues -7, -6, +4 and +5 of the central Val
which contact the chromoshadow domain.
-!- DISEASE: Defects in ATRX are the cause of X-linked alpha-
thalassemia/mental retardation syndrome (ATR-X) [MIM:301040]. ATR-
X is an X-linked disorder comprising severe psychomotor
retardation, facial dysmorphism, urogenital abnormalities, and
alpha-thalassemia. An essential phenotypic trait are hemoglobin H
erythrocyte inclusions.
-!- DISEASE: Defects in ATRX are the cause of Renpenning syndrome 1
(RENS1) [MIM:309500]. RENS1 is characterized by severe mental
retardation with spastic paraplegia, microcephaly, short stature
and cryptorchidism.
-!- DISEASE: Defects in ATRX are a cause of X-linked mental
retardation-hypotonic facies syndrome [MIM:309580]. Clinical
features include severe mental retardation, dysmorphic facies, and
a highly skewed X-inactivation pattern in carrier women. Other
more variable features include hypogonadism, deafness, renal
anomalies, and mild skeletal defects.
-!- DISEASE: Defects in ATRX are the cause of Carpenter-Waziri
syndrome (CWS), an X-linked recessive condition characterized by
moderate mental retardation, short stature, brachydactyly with
excessive skin creases, and widening of the knuckles.
-!- DISEASE: Defects in ATRX are a cause of alpha-thalassemia
myelodysplasia syndrome (ATMDS) [MIM:300448]. In this disorder,
alpha-thalassemia occurs as an acquired abnormality in association
with a multilineage myelodysplasia.
-!- SIMILARITY: Belongs to the SNF2/RAD54 helicase family.
-!- SIMILARITY: Contains 1 helicase domain.
-!- SIMILARITY: Contains 1 PHD-type zinc finger.
-!- SIMILARITY: Contains 1 SNF2_N domain.
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
Sequence length: 2492
MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS
KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS
LPKGTVIVQP EPVLNEDKDD FKGPEFRSRS KMKTENLKKR GEDGLHGIVS CTACGQQVNH
FQKDSIYRHP SLQVLICKNC FKYYMSDDIS RDSDGMDEQC RWCAEGGNLI CCDFCHNAFC
KKCILRNLGR KELSTIMDEN NQWYCYICHP EPLLDLVTAC NSVFENLEQL LQQNKKKIKV
DSEKSNKVYE HTSRFSPKKT SSNCNGEEKK LDDSCSGSVT YSYSALIVPK EMIKKAKKLI
ETTANMNSSY VKFLKQATDN SEISSATKLR QLKAFKSVLA DIKKAHLALE EDLNSEFRAM
DAVNKEKNTK EHKVIDAKFE TKARKGEKPC ALEKKDISKS EAKLSRKQVD SEHMHQNVPT
EEQRTNKSTG GEHKKSDRKE EPQYEPANTS EDLDMDIVSV PSSVPEDIFE NLETAMEVQS
SVDHQGDGSS GTEQEVESSS VKLNISSKDN RGGIKSKTTA KVTKELYVKL TPVSLPNSPI
KGADCQEVPQ DKDGYKSCGL NPKLEKCGLG QENSDNEHLV ENEVSLLLEE SDLRRSPRVK
TTPLRRPTET NPVTSNSDEE CNETVKEKQK LSVPVRKKDK RNSSDSAIDN PKPNKLPKSK
QSETVDQNSD SDEMLAILKG VSRMSHSSSS DTDINEIHTN HKTLYDLKTQ AGKDDKGKRK
RKSSTSGSDF DTKKGKSAKS SIISKKKRQT QSESSNYDSE LEKEIKSMSK IGAARTTKKR
IPNTKDFDSS EDEKHSKKGM DNQGHKNLKT SQEGSSDDAE RKQERETFSS AEGTVDKDTT
IMELRDRLPK KQQASASTDG VDKLSGKEQS FTSLEVRKVA ETKEKSKHLK TKTCKKVQDG
LSDIAEKFLK KDQSDETSED DKKQSKKGTE EKKKPSDFKK KVIKMEQQYE SSSDGTEKLP
EREEICHFPK GIKQIKNGTT DGEKKSKKIR DKTSKKKDEL SDYAEKSTGK GDSCDSSEDK
KSKNGAYGRE KKRCKLLGKS SRKRQDCSSS DTEKYSMKED GCNSSDKRLK RIELRERRNL
SSKRNTKEIQ SGSSSSDAEE SSEDNKKKKQ RTSSKKKAVI VKEKKRNSLR TSTKRKQADI
TSSSSSDIED DDQNSIGEGS SDEQKIKPVT ENLVLSSHTG FCQSSGDEAL SKSVPVTVDD
DDDDNDPENR IAKKMLLEEI KANLSSDEDG SSDDEPEEGK KRTGKQNEEN PGDEEAKNQV
NSESDSDSEE SKKPRYRHRL LRHKLTVSDG ESGEEKKTKP KEHKEVKGRN RRKVSSEDSE
DSDFQESGVS EEVSESEDEQ RPRTRSAKKA ELEENQRSYK QKKKRRRIKV QEDSSSENKS
NSEEEEEEKE EEEEEEEEEE EEEEDENDDS KSPGKGRKKI RKILKDDKLR TETQNALKEE
EERRKRIAER EREREKLREV IEIEDASPTK CPITTKLVLD EDEETKEPLV QVHRNMVIKL
KPHQVDGVQF MWDCCCESVK KTKKSPGSGC ILAHCMGLGK TLQVVSFLHT VLLCDKLDFS
TALVVCPLNT ALNWMNEFEK WQEGLKDDEK LEVSELATVK RPQERSYMLQ RWQEDGGVMI
IGYEMYRNLA QGRNVKSRKL KEIFNKALVD PGPDFVVCDE GHILKNEASA VSKAMNSIRS
RRRIILTGTP LQNNLIEYHC MVNFIKENLL GSIKEFRNRF INPIQNGQCA DSTMVDVRVM
KKRAHILYEM LAGCVQRKDY TALTKFLPPK HEYVLAVRMT SIQCKLYQYY LDHLTGVGNN
SEGGRGKAGA KLFQDFQMLS RIWTHPWCLQ LDYISKENKG YFDEDSMDEF IASDSDETSM
SLSSDDYTKK KKKGKKGKKD SSSSGSGSDN DVEVIKVWNS RSRGGGEGNV DETGNNPSVS
LKLEESKATS SSNPSSPAPD WYKDFVTDAD AEVLEHSGKM VLLFEILRMA EEIGDKVLVF
SQSLISLDLI EDFLELASRE KTEDKDKPLI YKGEGKWLRN IDYYRLDGST TAQSRKKWAE
EFNDETNVRG RLFIISTKAG SLGINLVAAN RVIIFDASWN PSYDIQSIFR VYRFGQTKPV
YVYRFLAQGT MEDKIYDRQV TKQSLSFRVV DQQQVERHFT MNELTELYTF EPDLLDDPNS
EKKKKRDTPM LPKDTILAEL LQIHKEHIVG YHEHDSLLDH KEEEELTEEE RKAAWAEYEA
EKKVLTMRFN IPTGTNLPPV SFNSQTPYIP FNLGALSAMS NQQLEDLINQ GREKVVEATN
SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM
LISCVQRILM NRRLQQQYNQ QQQQQMTYQQ ATLGHLMMPK PPNLIMNPSN YQQIDMRGMY
QPVAGGMQPP PLQRAPPPMR SKNPGPSQGK SM