P46100 (ATRX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcriptional regulator ATRX
EC=3.6.4.12

Alternative name(s):
ATP-dependent helicase ATRX
X-linked helicase II
X-linked nuclear protein
Short name=XNP
Znf-HX

Gene names

Name:	ATRX
Synonyms:	RAD54L, XH2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2492 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Could be a global transcriptional regulator. Modifies gene expression by affecting chromatin. May be involved in brain development and facial morphogenesis.
Catalytic activity	ATP + H2O = ADP + phosphate.
Subunit structure	Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent manner By similarity. Interacts directly with CBX5 via the PxVxL motif. Ref.10 Ref.14
Subcellular location	Nucleus. Note: Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with HP1. Ref.11
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. Ref.23
Involvement in disease	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9 Ref.24 Ref.26 Ref.27 Ref.28 Ref.30 Ref.31 Ref.33 Ref.36 Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.25 Ref.29 Ref.32 Ref.34 Ref.35 Alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]: A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13
Sequence similarities	Belongs to the SNF2/RAD54 helicase family. Contains 1 ADD domain. Contains 1 GATA-type zinc finger. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Contains 1 PHD-type zinc finger.
Sequence caution	The sequence AAA20872.1 differs from that shown. Reason: Many frameshifts and conflits. The sequence AAC50069.1 differs from that shown. Reason: Frameshift at several positions. The sequence BAD92165.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Mental retardation
Domain	Zinc-finger
Ligand	ATP-binding DNA-binding Metal-binding Nucleotide-binding Zinc
Molecular function	Helicase Hydrolase
PTM	Acetylation Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA methylation Traceable author statement PubMed 10742099. Source: ProtInc DNA recombination Traceable author statement Ref.9. Source: ProtInc DNA repair Traceable author statement Ref.9. Source: ProtInc forebrain development Inferred from electronic annotation. Source: Compara regulation of transcription, DNA-dependent Traceable author statement Ref.9. Source: ProtInc
Cellular_component	nuclear heterochromatin Traceable author statement Ref.11. Source: ProtInc
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW DNA binding Inferred from electronic annotation. Source: UniProtKB-KW DNA helicase activity Traceable author statement Ref.9. Source: ProtInc chromatin binding Inferred from electronic annotation. Source: Compara zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DAXX	Q9UER7	3	EBI-396461,EBI-77321

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 4 (identifier: P46100-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 1 (identifier: P46100-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-204: Missing.

Isoform 2 (identifier: P46100-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.

Isoform 3 (identifier: P46100-4)

The sequence of this isoform differs from the canonical sequence as follows:
     124-161: Missing.

Isoform 5 (identifier: P46100-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.
     124-161: Missing.

Isoform 6 (identifier: P46100-6)

The sequence of this isoform differs from the canonical sequence as follows:
     124-162: Missing.
     573-601: Missing.
     1419-2492: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 2492

2492

Transcriptional regulator ATRX

PRO_0000074301

Regions

Domain

159 – 296

138

ADD

Domain

1581 – 1768

188

Helicase ATP-binding

Domain

2025 – 2205

181

Helicase C-terminal

Zinc finger

170 – 206

37

GATA-type; atypical

Zinc finger

217 – 272

56

PHD-type; atypical

Nucleotide binding

1594 – 1601

8

ATP Potential

Motif

581 – 594

14

PxVxL motif

Motif

1719 – 1722

4

DEGH box

Compositional bias

745 – 750

6

Poly-Ser

Compositional bias

1151 – 1156

6

Poly-Ser

Compositional bias

1166 – 1169

4

Poly-Lys

Compositional bias

1202 – 1206

5

Poly-Ser

Compositional bias

1259 – 1266

8

Poly-Asp

Compositional bias

1443 – 1466

24

Poly-Glu

Compositional bias

1499 – 1502

4

Poly-Glu

Compositional bias

1929 – 1939

11

Poly-Lys

Compositional bias

1941 – 1948

8

Poly-Ser

Compositional bias

2222 – 2225

4

Poly-Lys

Compositional bias

2262 – 2265

4

Poly-Glu

Compositional bias

2420 – 2425

6

Poly-Gln

Amino acid modifications

Modified residue

34

1

Phosphoserine Ref.18

Modified residue

89

1

Phosphotyrosine Ref.18

Modified residue

92

1

Phosphoserine Ref.20

Modified residue

112

1

Phosphoserine Ref.18

Modified residue

591

1

Phosphothreonine Ref.20

Modified residue

594

1

Phosphoserine Ref.17

Modified residue

596

1

Phosphoserine By similarity

Modified residue

598

1

Phosphoserine Ref.20 Ref.22

Modified residue

634

1

Phosphoserine Ref.15

Modified residue

674

1

Phosphothreonine Ref.17

Modified residue

675

1

Phosphoserine Ref.17

Modified residue

677

1

Phosphoserine Ref.17

Modified residue

729

1

Phosphoserine Ref.17

Modified residue

731

1

Phosphoserine Ref.17

Modified residue

875

1

Phosphoserine Ref.17

Modified residue

876

1

Phosphoserine Ref.17

Modified residue

889

1

Phosphoserine Ref.22

Modified residue

967

1

N6-acetyllysine Ref.19

Modified residue

1061

1

Phosphoserine Ref.20 Ref.22

Modified residue

1063

1

Phosphotyrosine Ref.20

Modified residue

1322

1

Phosphoserine Ref.22

Modified residue

1324

1

Phosphoserine Ref.22

Modified residue

1326

1

Phosphoserine Ref.22

Modified residue

1348

1

Phosphoserine Ref.17 Ref.20 Ref.22

Modified residue

1352

1

Phosphoserine Ref.15 Ref.17 Ref.20 Ref.22

Modified residue

1527

1

Phosphoserine Ref.20

Modified residue

1992

1

Phosphoserine Ref.20

Modified residue

1996

1

Phosphoserine Ref.17 Ref.18 Ref.20

Modified residue

2220

1

Phosphoserine Ref.17 Ref.20

Natural variations

Alternative sequence

1 – 204

204

Missing in isoform 1.

VSP_000575

Alternative sequence

1 – 117

117

Missing in isoform 2 and isoform 5.

VSP_000574

Alternative sequence

124 – 162

39

Missing in isoform 6.

VSP_015499

Alternative sequence

124 – 161

38

Missing in isoform 3 and isoform 5.

VSP_000576

Alternative sequence

573 – 601

29

Missing in isoform 6.

VSP_015500

Alternative sequence

1419 – 2492

1074

Missing in isoform 6.

VSP_015501

Natural variant

175

1

G → E in ATRX. Ref.30

VAR_012113

Natural variant

178 – 198

21

Missing in ATRX.

VAR_012114

Natural variant

179

1

N → S in ATRX. Ref.31

VAR_012115

Natural variant

190

1

P → A in ATRX.

VAR_001226

Natural variant

190

1

P → L in ATRX. Ref.31

VAR_012116

Natural variant

190

1

P → S in ATRX. Ref.30

VAR_012117

Natural variant

192

1

L → F in ATRX.

VAR_001227

Natural variant

194

1

V → I in ATRX. Ref.31

VAR_012118

Natural variant

200

1

C → S in ATRX.

VAR_001228

Natural variant

219

1

Q → P in ATRX. Ref.30

VAR_012119

Natural variant

220

1

C → R in ATRX.

VAR_001229

Natural variant

220

1

C → Y in MRXSHF1. Ref.32

VAR_032625

Natural variant

222

1

W → S in ATRX.

VAR_001230

Natural variant

243

1

C → F in ATRX.

VAR_001231

Natural variant

246

1

R → C in ATRX. Ref.31 Ref.36

VAR_001232

Natural variant

246

1

R → L in ATRX. Ref.27 Ref.30

VAR_010914

Natural variant

249

1

G → C in ATRX. Ref.30

VAR_012120

Natural variant

249

1

G → D in ATRX.

VAR_001233

Natural variant

409

1

L → S in MRXSHF1. Ref.35

VAR_032626

Natural variant

545

1

Q → E.
Corresponds to variant rs35738915 [ dbSNP | Ensembl ].

VAR_055939

Natural variant

596

1

S → P. Ref.2
Corresponds to variant rs1051678 [ dbSNP | Ensembl ].

VAR_016914

Natural variant

740

1

E → G. Ref.2
Corresponds to variant rs1051680 [ dbSNP | Ensembl ].

VAR_016915

Natural variant

929

1

Q → E. Ref.4
Corresponds to variant rs3088074 [ dbSNP | Ensembl ].

VAR_023438

Natural variant

1538

1

V → G in ATRX; unknown pathological significance.

VAR_012121

Natural variant

1552

1

V → F in ATRX. Ref.31

VAR_012122

Natural variant

1609

1

H → R in ATRX.

VAR_001234

Natural variant

1614

1

C → R in ATRX.

VAR_001235

Natural variant

1621

1

T → M in ATRX. Ref.33

VAR_016916

Natural variant

1645

1

L → S in ATRX. Ref.31

VAR_012123

Natural variant

1650

1

K → N in ATRX.

VAR_001236

Natural variant

1713

1

P → S in ATRX; without alpha-thalassemia. Ref.24

VAR_012124

Natural variant

1742

1

R → K in ATRX; atypical; patients presents spastic paraplegia at birth. Ref.28

VAR_012125

Natural variant

1847

1

Y → C in ATRX. Ref.31

VAR_012126

Natural variant

1860

1

N → S Rare polymorphism. Ref.1
Corresponds to variant rs45439799 [ dbSNP | Ensembl ].

VAR_001237

Natural variant

2035

1

D → V in ATRX.

VAR_001238

Natural variant

2050

1

I → T in MRXSHF1; originally reported as Carpenter-Waziri syndrome. Ref.29

VAR_012127

Natural variant

2084

1

Y → H in ATRX.

VAR_001239

Natural variant

2131

1

R → Q in MRXSHF1; originally reported as Juberg-Marsidi syndrome. Ref.25

VAR_001240

Natural variant

2163

1

Y → C in ATRX.

VAR_001241

Natural variant

2271

1

R → G in MRXSHF1. Ref.34

VAR_032627

Experimental info

Sequence conflict

879

1

A → R in AAC50069. Ref.7

Sequence conflict

1286

1

S → P in BAD92165. Ref.4

Sequence conflict

1627

1

P → L in AAC50069. Ref.7

Sequence conflict

1632

1

L → F in AAC50069. Ref.7

Sequence conflict

2280

1

A → G in AAC50069. Ref.7

Sequence conflict

2283 – 2284

2

KG → RV in AAC50069. Ref.7

Sequence conflict

2436

1

L → H in AAC50069. Ref.7

Sequence conflict

2442

1

P → R in AAC50069. Ref.7

Secondary structure

1

.

.

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2492

Helix Strand Turn

Details...

Turn

172 – 174

3

Beta strand

176 – 178

3

Turn

179 – 181

3

Turn

183 – 185

3

Beta strand

186 – 188

3

Turn

190 – 192

3

Beta strand

195 – 197

3

Helix

198 – 206

9

Beta strand

210 – 212

3

Turn

213 – 215

3

Beta strand

217 – 219

3

Turn

221 – 223

3

Beta strand

227 – 231

5

Beta strand

233 – 236

4

Beta strand

238 – 240

3

Helix

241 – 247

7

Helix

250 – 256

7

Beta strand

258 – 261

4

Turn

266 – 268

3

Helix

271 – 273

3

Helix

274 – 284

11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 4 [UniParc]. Last modified November 2, 2010. Version 5. Checksum: 637E341F6A4B29C6	FASTA	2,492	282,586
	10 20 30 40 50 60 MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS 70 80 90 100 110 120 KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS 130 140 150 160 170 180 LPKGTVIVQP EPVLNEDKDD FKGPEFRSRS KMKTENLKKR GEDGLHGIVS CTACGQQVNH 190 200 210 220 230 240 FQKDSIYRHP SLQVLICKNC FKYYMSDDIS RDSDGMDEQC RWCAEGGNLI CCDFCHNAFC 250 260 270 280 290 300 KKCILRNLGR KELSTIMDEN NQWYCYICHP EPLLDLVTAC NSVFENLEQL LQQNKKKIKV 310 320 330 340 350 360 DSEKSNKVYE HTSRFSPKKT SSNCNGEEKK LDDSCSGSVT YSYSALIVPK EMIKKAKKLI 370 380 390 400 410 420 ETTANMNSSY VKFLKQATDN SEISSATKLR QLKAFKSVLA DIKKAHLALE EDLNSEFRAM 430 440 450 460 470 480 DAVNKEKNTK EHKVIDAKFE TKARKGEKPC ALEKKDISKS EAKLSRKQVD SEHMHQNVPT 490 500 510 520 530 540 EEQRTNKSTG GEHKKSDRKE EPQYEPANTS EDLDMDIVSV PSSVPEDIFE NLETAMEVQS 550 560 570 580 590 600 SVDHQGDGSS GTEQEVESSS VKLNISSKDN RGGIKSKTTA KVTKELYVKL TPVSLSNSPI 610 620 630 640 650 660 KGADCQEVPQ DKDGYKSCGL NPKLEKCGLG QENSDNEHLV ENEVSLLLEE SDLRRSPRVK 670 680 690 700 710 720 TTPLRRPTET NPVTSNSDEE CNETVKEKQK LSVPVRKKDK RNSSDSAIDN PKPNKLPKSK 730 740 750 760 770 780 QSETVDQNSD SDEMLAILKE VSRMSHSSSS DTDINEIHTN HKTLYDLKTQ AGKDDKGKRK 790 800 810 820 830 840 RKSSTSGSDF DTKKGKSAKS SIISKKKRQT QSESSNYDSE LEKEIKSMSK IGAARTTKKR 850 860 870 880 890 900 IPNTKDFDSS EDEKHSKKGM DNQGHKNLKT SQEGSSDDAE RKQERETFSS AEGTVDKDTT 910 920 930 940 950 960 IMELRDRLPK KQQASASTDG VDKLSGKEQS FTSLEVRKVA ETKEKSKHLK TKTCKKVQDG 970 980 990 1000 1010 1020 LSDIAEKFLK KDQSDETSED DKKQSKKGTE EKKKPSDFKK KVIKMEQQYE SSSDGTEKLP 1030 1040 1050 1060 1070 1080 EREEICHFPK GIKQIKNGTT DGEKKSKKIR DKTSKKKDEL SDYAEKSTGK GDSCDSSEDK 1090 1100 1110 1120 1130 1140 KSKNGAYGRE KKRCKLLGKS SRKRQDCSSS DTEKYSMKED GCNSSDKRLK RIELRERRNL 1150 1160 1170 1180 1190 1200 SSKRNTKEIQ SGSSSSDAEE SSEDNKKKKQ RTSSKKKAVI VKEKKRNSLR TSTKRKQADI 1210 1220 1230 1240 1250 1260 TSSSSSDIED DDQNSIGEGS SDEQKIKPVT ENLVLSSHTG FCQSSGDEAL SKSVPVTVDD 1270 1280 1290 1300 1310 1320 DDDDNDPENR IAKKMLLEEI KANLSSDEDG SSDDEPEEGK KRTGKQNEEN PGDEEAKNQV 1330 1340 1350 1360 1370 1380 NSESDSDSEE SKKPRYRHRL LRHKLTVSDG ESGEEKKTKP KEHKEVKGRN RRKVSSEDSE 1390 1400 1410 1420 1430 1440 DSDFQESGVS EEVSESEDEQ RPRTRSAKKA ELEENQRSYK QKKKRRRIKV QEDSSSENKS 1450 1460 1470 1480 1490 1500 NSEEEEEEKE EEEEEEEEEE EEEEDENDDS KSPGKGRKKI RKILKDDKLR TETQNALKEE 1510 1520 1530 1540 1550 1560 EERRKRIAER EREREKLREV IEIEDASPTK CPITTKLVLD EDEETKEPLV QVHRNMVIKL 1570 1580 1590 1600 1610 1620 KPHQVDGVQF MWDCCCESVK KTKKSPGSGC ILAHCMGLGK TLQVVSFLHT VLLCDKLDFS 1630 1640 1650 1660 1670 1680 TALVVCPLNT ALNWMNEFEK WQEGLKDDEK LEVSELATVK RPQERSYMLQ RWQEDGGVMI 1690 1700 1710 1720 1730 1740 IGYEMYRNLA QGRNVKSRKL KEIFNKALVD PGPDFVVCDE GHILKNEASA VSKAMNSIRS 1750 1760 1770 1780 1790 1800 RRRIILTGTP LQNNLIEYHC MVNFIKENLL GSIKEFRNRF INPIQNGQCA DSTMVDVRVM 1810 1820 1830 1840 1850 1860 KKRAHILYEM LAGCVQRKDY TALTKFLPPK HEYVLAVRMT SIQCKLYQYY LDHLTGVGNN 1870 1880 1890 1900 1910 1920 SEGGRGKAGA KLFQDFQMLS RIWTHPWCLQ LDYISKENKG YFDEDSMDEF IASDSDETSM 1930 1940 1950 1960 1970 1980 SLSSDDYTKK KKKGKKGKKD SSSSGSGSDN DVEVIKVWNS RSRGGGEGNV DETGNNPSVS 1990 2000 2010 2020 2030 2040 LKLEESKATS SSNPSSPAPD WYKDFVTDAD AEVLEHSGKM VLLFEILRMA EEIGDKVLVF 2050 2060 2070 2080 2090 2100 SQSLISLDLI EDFLELASRE KTEDKDKPLI YKGEGKWLRN IDYYRLDGST TAQSRKKWAE 2110 2120 2130 2140 2150 2160 EFNDETNVRG RLFIISTKAG SLGINLVAAN RVIIFDASWN PSYDIQSIFR VYRFGQTKPV 2170 2180 2190 2200 2210 2220 YVYRFLAQGT MEDKIYDRQV TKQSLSFRVV DQQQVERHFT MNELTELYTF EPDLLDDPNS 2230 2240 2250 2260 2270 2280 EKKKKRDTPM LPKDTILAEL LQIHKEHIVG YHEHDSLLDH KEEEELTEEE RKAAWAEYEA 2290 2300 2310 2320 2330 2340 EKKGLTMRFN IPTGTNLPPV SFNSQTPYIP FNLGALSAMS NQQLEDLINQ GREKVVEATN 2350 2360 2370 2380 2390 2400 SVTAVRIQPL EDIISAVWKE NMNLSEAQVQ ALALSRQASQ ELDVKRREAI YNDVLTKQQM 2410 2420 2430 2440 2450 2460 LISCVQRILM NRRLQQQYNQ QQQQQMTYQQ ATLGHLMMPK PPNLIMNPSN YQQIDMRGMY 2470 2480 2490 QPVAGGMQPP PLQRAPPPMR SKNPGPSQGK SM
	Isoform 1 [UniParc]. Checksum: AB2B948725F62D77	FASTA	2,288	259,843
	10 20 30 40 50 60 MSDDISRDSD GMDEQCRWCA EGGNLICCDF CHNAFCKKCI LRNLGRKELS TIMDENNQWY 70 80 90 100 110 120 CYICHPEPLL DLVTACNSVF ENLEQLLQQN KKKIKVDSEK SNKVYEHTSR FSPKKTSSNC 130 140 150 160 170 180 NGEEKKLDDS CSGSVTYSYS ALIVPKEMIK KAKKLIETTA NMNSSYVKFL KQATDNSEIS 190 200 210 220 230 240 SATKLRQLKA FKSVLADIKK AHLALEEDLN SEFRAMDAVN KEKNTKEHKV IDAKFETKAR 250 260 270 280 290 300 KGEKPCALEK KDISKSEAKL SRKQVDSEHM HQNVPTEEQR TNKSTGGEHK KSDRKEEPQY 310 320 330 340 350 360 EPANTSEDLD MDIVSVPSSV PEDIFENLET AMEVQSSVDH QGDGSSGTEQ EVESSSVKLN 370 380 390 400 410 420 ISSKDNRGGI KSKTTAKVTK ELYVKLTPVS LSNSPIKGAD CQEVPQDKDG YKSCGLNPKL 430 440 450 460 470 480 EKCGLGQENS DNEHLVENEV SLLLEESDLR RSPRVKTTPL RRPTETNPVT SNSDEECNET 490 500 510 520 530 540 VKEKQKLSVP VRKKDKRNSS DSAIDNPKPN KLPKSKQSET VDQNSDSDEM LAILKEVSRM 550 560 570 580 590 600 SHSSSSDTDI NEIHTNHKTL YDLKTQAGKD DKGKRKRKSS TSGSDFDTKK GKSAKSSIIS 610 620 630 640 650 660 KKKRQTQSES SNYDSELEKE IKSMSKIGAA RTTKKRIPNT KDFDSSEDEK HSKKGMDNQG 670 680 690 700 710 720 HKNLKTSQEG SSDDAERKQE RETFSSAEGT VDKDTTIMEL RDRLPKKQQA SASTDGVDKL 730 740 750 760 770 780 SGKEQSFTSL EVRKVAETKE KSKHLKTKTC KKVQDGLSDI AEKFLKKDQS DETSEDDKKQ 790 800 810 820 830 840 SKKGTEEKKK PSDFKKKVIK MEQQYESSSD GTEKLPEREE ICHFPKGIKQ IKNGTTDGEK 850 860 870 880 890 900 KSKKIRDKTS KKKDELSDYA EKSTGKGDSC DSSEDKKSKN GAYGREKKRC KLLGKSSRKR 910 920 930 940 950 960 QDCSSSDTEK YSMKEDGCNS SDKRLKRIEL RERRNLSSKR NTKEIQSGSS SSDAEESSED 970 980 990 1000 1010 1020 NKKKKQRTSS KKKAVIVKEK KRNSLRTSTK RKQADITSSS SSDIEDDDQN SIGEGSSDEQ 1030 1040 1050 1060 1070 1080 KIKPVTENLV LSSHTGFCQS SGDEALSKSV PVTVDDDDDD NDPENRIAKK MLLEEIKANL 1090 1100 1110 1120 1130 1140 SSDEDGSSDD EPEEGKKRTG KQNEENPGDE EAKNQVNSES DSDSEESKKP RYRHRLLRHK 1150 1160 1170 1180 1190 1200 LTVSDGESGE EKKTKPKEHK EVKGRNRRKV SSEDSEDSDF QESGVSEEVS ESEDEQRPRT 1210 1220 1230 1240 1250 1260 RSAKKAELEE NQRSYKQKKK RRRIKVQEDS SSENKSNSEE EEEEKEEEEE EEEEEEEEEE 1270 1280 1290 1300 1310 1320 DENDDSKSPG KGRKKIRKIL KDDKLRTETQ NALKEEEERR KRIAERERER EKLREVIEIE 1330 1340 1350 1360 1370 1380 DASPTKCPIT TKLVLDEDEE TKEPLVQVHR NMVIKLKPHQ VDGVQFMWDC CCESVKKTKK 1390 1400 1410 1420 1430 1440 SPGSGCILAH CMGLGKTLQV VSFLHTVLLC DKLDFSTALV VCPLNTALNW MNEFEKWQEG 1450 1460 1470 1480 1490 1500 LKDDEKLEVS ELATVKRPQE RSYMLQRWQE DGGVMIIGYE MYRNLAQGRN VKSRKLKEIF 1510 1520 1530 1540 1550 1560 NKALVDPGPD FVVCDEGHIL KNEASAVSKA MNSIRSRRRI ILTGTPLQNN LIEYHCMVNF 1570 1580 1590 1600 1610 1620 IKENLLGSIK EFRNRFINPI QNGQCADSTM VDVRVMKKRA HILYEMLAGC VQRKDYTALT 1630 1640 1650 1660 1670 1680 KFLPPKHEYV LAVRMTSIQC KLYQYYLDHL TGVGNNSEGG RGKAGAKLFQ DFQMLSRIWT 1690 1700 1710 1720 1730 1740 HPWCLQLDYI SKENKGYFDE DSMDEFIASD SDETSMSLSS DDYTKKKKKG KKGKKDSSSS 1750 1760 1770 1780 1790 1800 GSGSDNDVEV IKVWNSRSRG GGEGNVDETG NNPSVSLKLE ESKATSSSNP SSPAPDWYKD 1810 1820 1830 1840 1850 1860 FVTDADAEVL EHSGKMVLLF EILRMAEEIG DKVLVFSQSL ISLDLIEDFL ELASREKTED 1870 1880 1890 1900 1910 1920 KDKPLIYKGE GKWLRNIDYY RLDGSTTAQS RKKWAEEFND ETNVRGRLFI ISTKAGSLGI 1930 1940 1950 1960 1970 1980 NLVAANRVII FDASWNPSYD IQSIFRVYRF GQTKPVYVYR FLAQGTMEDK IYDRQVTKQS 1990 2000 2010 2020 2030 2040 LSFRVVDQQQ VERHFTMNEL TELYTFEPDL LDDPNSEKKK KRDTPMLPKD TILAELLQIH 2050 2060 2070 2080 2090 2100 KEHIVGYHEH DSLLDHKEEE ELTEEERKAA WAEYEAEKKG LTMRFNIPTG TNLPPVSFNS 2110 2120 2130 2140 2150 2160 QTPYIPFNLG ALSAMSNQQL EDLINQGREK VVEATNSVTA VRIQPLEDII SAVWKENMNL 2170 2180 2190 2200 2210 2220 SEAQVQALAL SRQASQELDV KRREAIYNDV LTKQQMLISC VQRILMNRRL QQQYNQQQQQ 2230 2240 2250 2260 2270 2280 QMTYQQATLG HLMMPKPPNL IMNPSNYQQI DMRGMYQPVA GGMQPPPLQR APPPMRSKNP GPSQGKSM
	Isoform 2 [UniParc]. Checksum: 7314428AA21A9687	FASTA	2,375	269,811
	10 20 30 40 50 60 MQSLPKGTVI VQPEPVLNED KDDFKGPEFR SRSKMKTENL KKRGEDGLHG IVSCTACGQQ 70 80 90 100 110 120 VNHFQKDSIY RHPSLQVLIC KNCFKYYMSD DISRDSDGMD EQCRWCAEGG NLICCDFCHN 130 140 150 160 170 180 AFCKKCILRN LGRKELSTIM DENNQWYCYI CHPEPLLDLV TACNSVFENL EQLLQQNKKK 190 200 210 220 230 240 IKVDSEKSNK VYEHTSRFSP KKTSSNCNGE EKKLDDSCSG SVTYSYSALI VPKEMIKKAK 250 260 270 280 290 300 KLIETTANMN SSYVKFLKQA TDNSEISSAT KLRQLKAFKS VLADIKKAHL ALEEDLNSEF 310 320 330 340 350 360 RAMDAVNKEK NTKEHKVIDA KFETKARKGE KPCALEKKDI SKSEAKLSRK QVDSEHMHQN 370 380 390 400 410 420 VPTEEQRTNK STGGEHKKSD RKEEPQYEPA NTSEDLDMDI VSVPSSVPED IFENLETAME 430 440 450 460 470 480 VQSSVDHQGD GSSGTEQEVE SSSVKLNISS KDNRGGIKSK TTAKVTKELY VKLTPVSLSN 490 500 510 520 530 540 SPIKGADCQE VPQDKDGYKS CGLNPKLEKC GLGQENSDNE HLVENEVSLL LEESDLRRSP 550 560 570 580 590 600 RVKTTPLRRP TETNPVTSNS DEECNETVKE KQKLSVPVRK KDKRNSSDSA IDNPKPNKLP 610 620 630 640 650 660 KSKQSETVDQ NSDSDEMLAI LKEVSRMSHS SSSDTDINEI HTNHKTLYDL KTQAGKDDKG 670 680 690 700 710 720 KRKRKSSTSG SDFDTKKGKS AKSSIISKKK RQTQSESSNY DSELEKEIKS MSKIGAARTT 730 740 750 760 770 780 KKRIPNTKDF DSSEDEKHSK KGMDNQGHKN LKTSQEGSSD DAERKQERET FSSAEGTVDK 790 800 810 820 830 840 DTTIMELRDR LPKKQQASAS TDGVDKLSGK EQSFTSLEVR KVAETKEKSK HLKTKTCKKV 850 860 870 880 890 900 QDGLSDIAEK FLKKDQSDET SEDDKKQSKK GTEEKKKPSD FKKKVIKMEQ QYESSSDGTE 910 920 930 940 950 960 KLPEREEICH FPKGIKQIKN GTTDGEKKSK KIRDKTSKKK DELSDYAEKS TGKGDSCDSS 970 980 990 1000 1010 1020 EDKKSKNGAY GREKKRCKLL GKSSRKRQDC SSSDTEKYSM KEDGCNSSDK RLKRIELRER 1030 1040 1050 1060 1070 1080 RNLSSKRNTK EIQSGSSSSD AEESSEDNKK KKQRTSSKKK AVIVKEKKRN SLRTSTKRKQ 1090 1100 1110 1120 1130 1140 ADITSSSSSD IEDDDQNSIG EGSSDEQKIK PVTENLVLSS HTGFCQSSGD EALSKSVPVT 1150 1160 1170 1180 1190 1200 VDDDDDDNDP ENRIAKKMLL EEIKANLSSD EDGSSDDEPE EGKKRTGKQN EENPGDEEAK 1210 1220 1230 1240 1250 1260 NQVNSESDSD SEESKKPRYR HRLLRHKLTV SDGESGEEKK TKPKEHKEVK GRNRRKVSSE 1270 1280 1290 1300 1310 1320 DSEDSDFQES GVSEEVSESE DEQRPRTRSA KKAELEENQR SYKQKKKRRR IKVQEDSSSE 1330 1340 1350 1360 1370 1380 NKSNSEEEEE EKEEEEEEEE EEEEEEEDEN DDSKSPGKGR KKIRKILKDD KLRTETQNAL 1390 1400 1410 1420 1430 1440 KEEEERRKRI AEREREREKL REVIEIEDAS PTKCPITTKL VLDEDEETKE PLVQVHRNMV 1450 1460 1470 1480 1490 1500 IKLKPHQVDG VQFMWDCCCE SVKKTKKSPG SGCILAHCMG LGKTLQVVSF LHTVLLCDKL 1510 1520 1530 1540 1550 1560 DFSTALVVCP LNTALNWMNE FEKWQEGLKD DEKLEVSELA TVKRPQERSY MLQRWQEDGG 1570 1580 1590 1600 1610 1620 VMIIGYEMYR NLAQGRNVKS RKLKEIFNKA LVDPGPDFVV CDEGHILKNE ASAVSKAMNS 1630 1640 1650 1660 1670 1680 IRSRRRIILT GTPLQNNLIE YHCMVNFIKE NLLGSIKEFR NRFINPIQNG QCADSTMVDV 1690 1700 1710 1720 1730 1740 RVMKKRAHIL YEMLAGCVQR KDYTALTKFL PPKHEYVLAV RMTSIQCKLY QYYLDHLTGV 1750 1760 1770 1780 1790 1800 GNNSEGGRGK AGAKLFQDFQ MLSRIWTHPW CLQLDYISKE NKGYFDEDSM DEFIASDSDE 1810 1820 1830 1840 1850 1860 TSMSLSSDDY TKKKKKGKKG KKDSSSSGSG SDNDVEVIKV WNSRSRGGGE GNVDETGNNP 1870 1880 1890 1900 1910 1920 SVSLKLEESK ATSSSNPSSP APDWYKDFVT DADAEVLEHS GKMVLLFEIL RMAEEIGDKV 1930 1940 1950 1960 1970 1980 LVFSQSLISL DLIEDFLELA SREKTEDKDK PLIYKGEGKW LRNIDYYRLD GSTTAQSRKK 1990 2000 2010 2020 2030 2040 WAEEFNDETN VRGRLFIIST KAGSLGINLV AANRVIIFDA SWNPSYDIQS IFRVYRFGQT 2050 2060 2070 2080 2090 2100 KPVYVYRFLA QGTMEDKIYD RQVTKQSLSF RVVDQQQVER HFTMNELTEL YTFEPDLLDD 2110 2120 2130 2140 2150 2160 PNSEKKKKRD TPMLPKDTIL AELLQIHKEH IVGYHEHDSL LDHKEEEELT EEERKAAWAE 2170 2180 2190 2200 2210 2220 YEAEKKGLTM RFNIPTGTNL PPVSFNSQTP YIPFNLGALS AMSNQQLEDL INQGREKVVE 2230 2240 2250 2260 2270 2280 ATNSVTAVRI QPLEDIISAV WKENMNLSEA QVQALALSRQ ASQELDVKRR EAIYNDVLTK 2290 2300 2310 2320 2330 2340 QQMLISCVQR ILMNRRLQQQ YNQQQQQQMT YQQATLGHLM MPKPPNLIMN PSNYQQIDMR 2350 2360 2370 GMYQPVAGGM QPPPLQRAPP PMRSKNPGPS QGKSM
	Isoform 3 [UniParc]. Checksum: ED9320A642E01E2A	FASTA	2,454	278,229
	10 20 30 40 50 60 MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS 70 80 90 100 110 120 KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS 130 140 150 160 170 180 LPKEDGLHGI VSCTACGQQV NHFQKDSIYR HPSLQVLICK NCFKYYMSDD ISRDSDGMDE 190 200 210 220 230 240 QCRWCAEGGN LICCDFCHNA FCKKCILRNL GRKELSTIMD ENNQWYCYIC HPEPLLDLVT 250 260 270 280 290 300 ACNSVFENLE QLLQQNKKKI KVDSEKSNKV YEHTSRFSPK KTSSNCNGEE KKLDDSCSGS 310 320 330 340 350 360 VTYSYSALIV PKEMIKKAKK LIETTANMNS SYVKFLKQAT DNSEISSATK LRQLKAFKSV 370 380 390 400 410 420 LADIKKAHLA LEEDLNSEFR AMDAVNKEKN TKEHKVIDAK FETKARKGEK PCALEKKDIS 430 440 450 460 470 480 KSEAKLSRKQ VDSEHMHQNV PTEEQRTNKS TGGEHKKSDR KEEPQYEPAN TSEDLDMDIV 490 500 510 520 530 540 SVPSSVPEDI FENLETAMEV QSSVDHQGDG SSGTEQEVES SSVKLNISSK DNRGGIKSKT 550 560 570 580 590 600 TAKVTKELYV KLTPVSLSNS PIKGADCQEV PQDKDGYKSC GLNPKLEKCG LGQENSDNEH 610 620 630 640 650 660 LVENEVSLLL EESDLRRSPR VKTTPLRRPT ETNPVTSNSD EECNETVKEK QKLSVPVRKK 670 680 690 700 710 720 DKRNSSDSAI DNPKPNKLPK SKQSETVDQN SDSDEMLAIL KEVSRMSHSS SSDTDINEIH 730 740 750 760 770 780 TNHKTLYDLK TQAGKDDKGK RKRKSSTSGS DFDTKKGKSA KSSIISKKKR QTQSESSNYD 790 800 810 820 830 840 SELEKEIKSM SKIGAARTTK KRIPNTKDFD SSEDEKHSKK GMDNQGHKNL KTSQEGSSDD 850 860 870 880 890 900 AERKQERETF SSAEGTVDKD TTIMELRDRL PKKQQASAST DGVDKLSGKE QSFTSLEVRK 910 920 930 940 950 960 VAETKEKSKH LKTKTCKKVQ DGLSDIAEKF LKKDQSDETS EDDKKQSKKG TEEKKKPSDF 970 980 990 1000 1010 1020 KKKVIKMEQQ YESSSDGTEK LPEREEICHF PKGIKQIKNG TTDGEKKSKK IRDKTSKKKD 1030 1040 1050 1060 1070 1080 ELSDYAEKST GKGDSCDSSE DKKSKNGAYG REKKRCKLLG KSSRKRQDCS SSDTEKYSMK 1090 1100 1110 1120 1130 1140 EDGCNSSDKR LKRIELRERR NLSSKRNTKE IQSGSSSSDA EESSEDNKKK KQRTSSKKKA 1150 1160 1170 1180 1190 1200 VIVKEKKRNS LRTSTKRKQA DITSSSSSDI EDDDQNSIGE GSSDEQKIKP VTENLVLSSH 1210 1220 1230 1240 1250 1260 TGFCQSSGDE ALSKSVPVTV DDDDDDNDPE NRIAKKMLLE EIKANLSSDE DGSSDDEPEE 1270 1280 1290 1300 1310 1320 GKKRTGKQNE ENPGDEEAKN QVNSESDSDS EESKKPRYRH RLLRHKLTVS DGESGEEKKT 1330 1340 1350 1360 1370 1380 KPKEHKEVKG RNRRKVSSED SEDSDFQESG VSEEVSESED EQRPRTRSAK KAELEENQRS 1390 1400 1410 1420 1430 1440 YKQKKKRRRI KVQEDSSSEN KSNSEEEEEE KEEEEEEEEE EEEEEEDEND DSKSPGKGRK 1450 1460 1470 1480 1490 1500 KIRKILKDDK LRTETQNALK EEEERRKRIA EREREREKLR EVIEIEDASP TKCPITTKLV 1510 1520 1530 1540 1550 1560 LDEDEETKEP LVQVHRNMVI KLKPHQVDGV QFMWDCCCES VKKTKKSPGS GCILAHCMGL 1570 1580 1590 1600 1610 1620 GKTLQVVSFL HTVLLCDKLD FSTALVVCPL NTALNWMNEF EKWQEGLKDD EKLEVSELAT 1630 1640 1650 1660 1670 1680 VKRPQERSYM LQRWQEDGGV MIIGYEMYRN LAQGRNVKSR KLKEIFNKAL VDPGPDFVVC 1690 1700 1710 1720 1730 1740 DEGHILKNEA SAVSKAMNSI RSRRRIILTG TPLQNNLIEY HCMVNFIKEN LLGSIKEFRN 1750 1760 1770 1780 1790 1800 RFINPIQNGQ CADSTMVDVR VMKKRAHILY EMLAGCVQRK DYTALTKFLP PKHEYVLAVR 1810 1820 1830 1840 1850 1860 MTSIQCKLYQ YYLDHLTGVG NNSEGGRGKA GAKLFQDFQM LSRIWTHPWC LQLDYISKEN 1870 1880 1890 1900 1910 1920 KGYFDEDSMD EFIASDSDET SMSLSSDDYT KKKKKGKKGK KDSSSSGSGS DNDVEVIKVW 1930 1940 1950 1960 1970 1980 NSRSRGGGEG NVDETGNNPS VSLKLEESKA TSSSNPSSPA PDWYKDFVTD ADAEVLEHSG 1990 2000 2010 2020 2030 2040 KMVLLFEILR MAEEIGDKVL VFSQSLISLD LIEDFLELAS REKTEDKDKP LIYKGEGKWL 2050 2060 2070 2080 2090 2100 RNIDYYRLDG STTAQSRKKW AEEFNDETNV RGRLFIISTK AGSLGINLVA ANRVIIFDAS 2110 2120 2130 2140 2150 2160 WNPSYDIQSI FRVYRFGQTK PVYVYRFLAQ GTMEDKIYDR QVTKQSLSFR VVDQQQVERH 2170 2180 2190 2200 2210 2220 FTMNELTELY TFEPDLLDDP NSEKKKKRDT PMLPKDTILA ELLQIHKEHI VGYHEHDSLL 2230 2240 2250 2260 2270 2280 DHKEEEELTE EERKAAWAEY EAEKKGLTMR FNIPTGTNLP PVSFNSQTPY IPFNLGALSA 2290 2300 2310 2320 2330 2340 MSNQQLEDLI NQGREKVVEA TNSVTAVRIQ PLEDIISAVW KENMNLSEAQ VQALALSRQA 2350 2360 2370 2380 2390 2400 SQELDVKRRE AIYNDVLTKQ QMLISCVQRI LMNRRLQQQY NQQQQQQMTY QQATLGHLMM 2410 2420 2430 2440 2450 PKPPNLIMNP SNYQQIDMRG MYQPVAGGMQ PPPLQRAPPP MRSKNPGPSQ GKSM
	Isoform 5 [UniParc]. Checksum: 437268E2C2817FEA	FASTA	2,337	265,454
	10 20 30 40 50 60 MQSLPKEDGL HGIVSCTACG QQVNHFQKDS IYRHPSLQVL ICKNCFKYYM SDDISRDSDG 70 80 90 100 110 120 MDEQCRWCAE GGNLICCDFC HNAFCKKCIL RNLGRKELST IMDENNQWYC YICHPEPLLD 130 140 150 160 170 180 LVTACNSVFE NLEQLLQQNK KKIKVDSEKS NKVYEHTSRF SPKKTSSNCN GEEKKLDDSC 190 200 210 220 230 240 SGSVTYSYSA LIVPKEMIKK AKKLIETTAN MNSSYVKFLK QATDNSEISS ATKLRQLKAF 250 260 270 280 290 300 KSVLADIKKA HLALEEDLNS EFRAMDAVNK EKNTKEHKVI DAKFETKARK GEKPCALEKK 310 320 330 340 350 360 DISKSEAKLS RKQVDSEHMH QNVPTEEQRT NKSTGGEHKK SDRKEEPQYE PANTSEDLDM 370 380 390 400 410 420 DIVSVPSSVP EDIFENLETA MEVQSSVDHQ GDGSSGTEQE VESSSVKLNI SSKDNRGGIK 430 440 450 460 470 480 SKTTAKVTKE LYVKLTPVSL SNSPIKGADC QEVPQDKDGY KSCGLNPKLE KCGLGQENSD 490 500 510 520 530 540 NEHLVENEVS LLLEESDLRR SPRVKTTPLR RPTETNPVTS NSDEECNETV KEKQKLSVPV 550 560 570 580 590 600 RKKDKRNSSD SAIDNPKPNK LPKSKQSETV DQNSDSDEML AILKEVSRMS HSSSSDTDIN 610 620 630 640 650 660 EIHTNHKTLY DLKTQAGKDD KGKRKRKSST SGSDFDTKKG KSAKSSIISK KKRQTQSESS 670 680 690 700 710 720 NYDSELEKEI KSMSKIGAAR TTKKRIPNTK DFDSSEDEKH SKKGMDNQGH KNLKTSQEGS 730 740 750 760 770 780 SDDAERKQER ETFSSAEGTV DKDTTIMELR DRLPKKQQAS ASTDGVDKLS GKEQSFTSLE 790 800 810 820 830 840 VRKVAETKEK SKHLKTKTCK KVQDGLSDIA EKFLKKDQSD ETSEDDKKQS KKGTEEKKKP 850 860 870 880 890 900 SDFKKKVIKM EQQYESSSDG TEKLPEREEI CHFPKGIKQI KNGTTDGEKK SKKIRDKTSK 910 920 930 940 950 960 KKDELSDYAE KSTGKGDSCD SSEDKKSKNG AYGREKKRCK LLGKSSRKRQ DCSSSDTEKY 970 980 990 1000 1010 1020 SMKEDGCNSS DKRLKRIELR ERRNLSSKRN TKEIQSGSSS SDAEESSEDN KKKKQRTSSK 1030 1040 1050 1060 1070 1080 KKAVIVKEKK RNSLRTSTKR KQADITSSSS SDIEDDDQNS IGEGSSDEQK IKPVTENLVL 1090 1100 1110 1120 1130 1140 SSHTGFCQSS GDEALSKSVP VTVDDDDDDN DPENRIAKKM LLEEIKANLS SDEDGSSDDE 1150 1160 1170 1180 1190 1200 PEEGKKRTGK QNEENPGDEE AKNQVNSESD SDSEESKKPR YRHRLLRHKL TVSDGESGEE 1210 1220 1230 1240 1250 1260 KKTKPKEHKE VKGRNRRKVS SEDSEDSDFQ ESGVSEEVSE SEDEQRPRTR SAKKAELEEN 1270 1280 1290 1300 1310 1320 QRSYKQKKKR RRIKVQEDSS SENKSNSEEE EEEKEEEEEE EEEEEEEEED ENDDSKSPGK 1330 1340 1350 1360 1370 1380 GRKKIRKILK DDKLRTETQN ALKEEEERRK RIAERERERE KLREVIEIED ASPTKCPITT 1390 1400 1410 1420 1430 1440 KLVLDEDEET KEPLVQVHRN MVIKLKPHQV DGVQFMWDCC CESVKKTKKS PGSGCILAHC 1450 1460 1470 1480 1490 1500 MGLGKTLQVV SFLHTVLLCD KLDFSTALVV CPLNTALNWM NEFEKWQEGL KDDEKLEVSE 1510 1520 1530 1540 1550 1560 LATVKRPQER SYMLQRWQED GGVMIIGYEM YRNLAQGRNV KSRKLKEIFN KALVDPGPDF 1570 1580 1590 1600 1610 1620 VVCDEGHILK NEASAVSKAM NSIRSRRRII LTGTPLQNNL IEYHCMVNFI KENLLGSIKE 1630 1640 1650 1660 1670 1680 FRNRFINPIQ NGQCADSTMV DVRVMKKRAH ILYEMLAGCV QRKDYTALTK FLPPKHEYVL 1690 1700 1710 1720 1730 1740 AVRMTSIQCK LYQYYLDHLT GVGNNSEGGR GKAGAKLFQD FQMLSRIWTH PWCLQLDYIS 1750 1760 1770 1780 1790 1800 KENKGYFDED SMDEFIASDS DETSMSLSSD DYTKKKKKGK KGKKDSSSSG SGSDNDVEVI 1810 1820 1830 1840 1850 1860 KVWNSRSRGG GEGNVDETGN NPSVSLKLEE SKATSSSNPS SPAPDWYKDF VTDADAEVLE 1870 1880 1890 1900 1910 1920 HSGKMVLLFE ILRMAEEIGD KVLVFSQSLI SLDLIEDFLE LASREKTEDK DKPLIYKGEG 1930 1940 1950 1960 1970 1980 KWLRNIDYYR LDGSTTAQSR KKWAEEFNDE TNVRGRLFII STKAGSLGIN LVAANRVIIF 1990 2000 2010 2020 2030 2040 DASWNPSYDI QSIFRVYRFG QTKPVYVYRF LAQGTMEDKI YDRQVTKQSL SFRVVDQQQV 2050 2060 2070 2080 2090 2100 ERHFTMNELT ELYTFEPDLL DDPNSEKKKK RDTPMLPKDT ILAELLQIHK EHIVGYHEHD 2110 2120 2130 2140 2150 2160 SLLDHKEEEE LTEEERKAAW AEYEAEKKGL TMRFNIPTGT NLPPVSFNSQ TPYIPFNLGA 2170 2180 2190 2200 2210 2220 LSAMSNQQLE DLINQGREKV VEATNSVTAV RIQPLEDIIS AVWKENMNLS EAQVQALALS 2230 2240 2250 2260 2270 2280 RQASQELDVK RREAIYNDVL TKQQMLISCV QRILMNRRLQ QQYNQQQQQQ MTYQQATLGH 2290 2300 2310 2320 2330 LMMPKPPNLI MNPSNYQQID MRGMYQPVAG GMQPPPLQRA PPPMRSKNPG PSQGKSM
	Isoform 6 [UniParc]. Checksum: A67E6A155955371A	FASTA	1,350	151,556
	10 20 30 40 50 60 MTAEPMSESK LNTLVQKLHD FLAHSSEESE ETSSPPRLAM NQNTDKISGS GSNSDMMENS 70 80 90 100 110 120 KEEGTSSSEK SKSSGSSRSK RKPSIVTKYV ESDDEKPLDD ETVNEDASNE NSENDITMQS 130 140 150 160 170 180 LPKDGLHGIV SCTACGQQVN HFQKDSIYRH PSLQVLICKN CFKYYMSDDI SRDSDGMDEQ 190 200 210 220 230 240 CRWCAEGGNL ICCDFCHNAF CKKCILRNLG RKELSTIMDE NNQWYCYICH PEPLLDLVTA 250 260 270 280 290 300 CNSVFENLEQ LLQQNKKKIK VDSEKSNKVY EHTSRFSPKK TSSNCNGEEK KLDDSCSGSV 310 320 330 340 350 360 TYSYSALIVP KEMIKKAKKL IETTANMNSS YVKFLKQATD NSEISSATKL RQLKAFKSVL 370 380 390 400 410 420 ADIKKAHLAL EEDLNSEFRA MDAVNKEKNT KEHKVIDAKF ETKARKGEKP CALEKKDISK 430 440 450 460 470 480 SEAKLSRKQV DSEHMHQNVP TEEQRTNKST GGEHKKSDRK EEPQYEPANT SEDLDMDIVS 490 500 510 520 530 540 VPSSVPEDIF ENLETAMEVQ SSVDHQGDGS SGTEQEVESS SVKLNISSKD NRGGADCQEV 550 560 570 580 590 600 PQDKDGYKSC GLNPKLEKCG LGQENSDNEH LVENEVSLLL EESDLRRSPR VKTTPLRRPT 610 620 630 640 650 660 ETNPVTSNSD EECNETVKEK QKLSVPVRKK DKRNSSDSAI DNPKPNKLPK SKQSETVDQN 670 680 690 700 710 720 SDSDEMLAIL KEVSRMSHSS SSDTDINEIH TNHKTLYDLK TQAGKDDKGK RKRKSSTSGS 730 740 750 760 770 780 DFDTKKGKSA KSSIISKKKR QTQSESSNYD SELEKEIKSM SKIGAARTTK KRIPNTKDFD 790 800 810 820 830 840 SSEDEKHSKK GMDNQGHKNL KTSQEGSSDD AERKQERETF SSAEGTVDKD TTIMELRDRL 850 860 870 880 890 900 PKKQQASAST DGVDKLSGKE QSFTSLEVRK VAETKEKSKH LKTKTCKKVQ DGLSDIAEKF 910 920 930 940 950 960 LKKDQSDETS EDDKKQSKKG TEEKKKPSDF KKKVIKMEQQ YESSSDGTEK LPEREEICHF 970 980 990 1000 1010 1020 PKGIKQIKNG TTDGEKKSKK IRDKTSKKKD ELSDYAEKST GKGDSCDSSE DKKSKNGAYG 1030 1040 1050 1060 1070 1080 REKKRCKLLG KSSRKRQDCS SSDTEKYSMK EDGCNSSDKR LKRIELRERR NLSSKRNTKE 1090 1100 1110 1120 1130 1140 IQSGSSSSDA EESSEDNKKK KQRTSSKKKA VIVKEKKRNS LRTSTKRKQA DITSSSSSDI 1150 1160 1170 1180 1190 1200 EDDDQNSIGE GSSDEQKIKP VTENLVLSSH TGFCQSSGDE ALSKSVPVTV DDDDDDNDPE 1210 1220 1230 1240 1250 1260 NRIAKKMLLE EIKANLSSDE DGSSDDEPEE GKKRTGKQNE ENPGDEEAKN QVNSESDSDS 1270 1280 1290 1300 1310 1320 EESKKPRYRH RLLRHKLTVS DGESGEEKKT KPKEHKEVKG RNRRKVSSED SEDSDFQESG 1330 1340 1350 VSEEVSESED EQRPRTRSAK KAELEENQRS

References

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[1]	"ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome." Picketts D.J., Higgs D.R., Bachoo S., Blake D.J., Quarrell O.W.J., Gibbons R.J. Hum. Mol. Genet. 5:1899-1907(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), VARIANT SER-1860, VARIANTS ATRX.
[2]	"Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase." Villard L., Lossi A.-M., Cardoso C., Proud V., Chiaroni P., Colleaux L., Schwartz C., Fontes M. Genomics 43:149-155(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), VARIANTS PRO-596 AND GLY-740.
[3]	"Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees." Kitano T., Schwarz C., Nickel B., Paeaebo S. Mol. Biol. Evol. 20:1281-1289(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 163-198.
[4]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 704-1927 (ISOFORMS 1/2/3/4/5), VARIANT GLU-929. Tissue: Brain.
[5]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"Cloning and characterization of a new human Xq13 gene, encoding a putative helicase." Stayton C.L., Dabovic B., Gulisano M., Gecz J., Broccoli V., Giovanazzi S., Bossolasco M., Monaco L., Rastan S., Boncinelli E., Bianchi M.E., Consalez G.G. Hum. Mol. Genet. 3:1957-1964(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 860-2492.
[8]	"Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3." Gecz J., Pollard H., Consalez G., Villard L., Stayton C.L., Millasseau P., Khrestchatisky M., Fontes M. Hum. Mol. Genet. 3:39-44(1994) [PubMed] [Europe PMC] [Abstract] Cited for: PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[9]	"Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)." Gibbons R.J., Picketts D.J., Villard L., Higgs D.R. Cell 80:837-845(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2401-2492, VARIANTS ATRX.
[10]	"Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein." Cardoso C., Timsit S., Villard L., Khrestchatisky M., Fontes M., Colleaux L. Hum. Mol. Genet. 7:679-684(1998) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH EZH2.
[11]	"Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes." McDowell T.L., Gibbons R.J., Sutherland H., O'Rourke D.M., Bickmore W.A., Pombo A., Turley H., Gatter K., Picketts D.J., Buckle V.J., Chapman L., Rhodes D., Higgs D.R. Proc. Natl. Acad. Sci. U.S.A. 96:13983-13988(1999) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, ASSOCIATION WITH PERICENTROMERIC HETEROCHROMATIN.
[12]	"Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome." Villard L., Fontes M., Ades L.C., Gecz J. Am. J. Med. Genet. 91:83-85(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MRXSHF1.
[13]	"Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS)." Gibbons R.J., Pellagatti A., Garrick D., Wood W.G., Malik N., Ayyub H., Langford C., Boultwood J., Wainscoat J.S., Higgs D.R. Nat. Genet. 34:446-449(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN ATMDS.
[14]	"The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain." Lechner M.S., Schultz D.C., Negorev D., Maul G.G., Rauscher F.J. III Biochem. Biophys. Res. Commun. 331:929-937(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CBX5.
[15]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-634 AND SER-1352, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney.
[17]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-594; THR-674; SER-675; SER-677; SER-729; SER-731; SER-875; SER-876; SER-1348; SER-1352; SER-1996 AND SER-2220, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[18]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-34; TYR-89; SER-112 AND SER-1996, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[19]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-967, MASS SPECTROMETRY.
[20]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-92; THR-591; SER-598; SER-1061; TYR-1063; SER-1348; SER-1352; SER-1527; SER-1992; SER-1996 AND SER-2220, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[21]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[22]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-598; SER-889; SER-1061; SER-1322; SER-1324; SER-1326; SER-1348 AND SER-1352, MASS SPECTROMETRY.
[23]	"Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX." Argentaro A., Yang J.C., Chapman L., Kowalczyk M.S., Gibbons R.J., Higgs D.R., Neuhaus D., Rhodes D. Proc. Natl. Acad. Sci. U.S.A. 104:11939-11944(2007) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 159-296, DOMAIN GATA-TYPE ZINC FINGER.
[24]	"A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia." Villard L., Lacombe D., Fontes M. Eur. J. Hum. Genet. 4:316-320(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATRX SER-1713.
[25]	"XNP mutation in a large family with Juberg-Marsidi syndrome." Villard L., Gecz J., Mattei J.-F., Fontes M., Saugier-Veber P., Munnich A., Lyonnet S. Nat. Genet. 12:359-360(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MRXSHF1 GLN-2131.
[26]	"Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain." Gibbons R.J., Bachoo S., Picketts D.J., Aftimos S., Asenbauer B., Bergoffen J., Berry S.A., Dahl N., Fryer A., Keppler K., Kurosawa K., Levin M.L., Masuno M., Neri G., Pierpont M.E., Slaney S.F., Higgs D.R. Nat. Genet. 17:146-148(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ATRX.
[27]	"New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome." Fichera M., Romano C., Castiglia L., Failla P., Ruberto C., Amata S., Greco D., Cardoso C., Fontes M., Ragusa A. Hum. Mutat. 12:214-214(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATRX LEU-246.
[28]	"Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias." Lossi A.-M., Millan J.M., Villard L., Orellana C., Cardoso C., Prieto F., Fontes M., Martinez F. Am. J. Hum. Genet. 65:558-562(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATRX LYS-1742.
[29]	"Carpenter-Waziri syndrome results from a mutation in XNP." Abidi F., Schwartz C.E., Carpenter N.J., Villard L., Fontes M., Curtis M. Am. J. Med. Genet. 85:249-251(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MRXSHF1 THR-2050.
[30]	"Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome." Villard L., Bonino M.-C., Abidi F., Ragusa A., Belougne J., Lossi A.-M., Seaver L., Bonnefont J.-P., Romano C., Fichera M., Lacombe D., Hanauer A., Philip N., Schwartz C.E., Fontes M. J. Med. Genet. 36:183-186(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ATRX GLU-175; 178-VAL--LYS-198 DEL; SER-190; PRO-219; LEU-246 AND CYS-249.
[31]	"Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)." Wada T., Kubota T., Fukushima Y., Saitoh S. Am. J. Med. Genet. 94:242-248(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ATRX SER-179; LEU-190; ILE-194; CYS-246; PHE-1552; SER-1645 AND CYS-1847.
[32]	"Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome." Stevenson R.E., Abidi F., Schwartz C.E., Lubs H.A., Holmes L.B. Am. J. Med. Genet. 94:383-385(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MRXSHF1 TYR-220.
[33]	"Expanding phenotype of XNP mutations: mild to moderate mental retardation." Yntema H.G., Poppelaars F.A., Derksen E., Oudakker A.R., van Roosmalen T., Jacobs A., Obbema H., Brunner H.G., Hamel B.C.J., van Bokhoven H. Am. J. Med. Genet. 110:243-247(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATRX MET-1621.
[34]	"Asplenia in ATR-X syndrome: a second report." Leahy R.T., Philip R.K., Gibbons R.J., Fisher C., Suri M., Reardon W. Am. J. Med. Genet. A 139:37-39(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MRXSHF1 GLY-2271.
[35]	"A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation." Wieland I., Sabathil J., Ostendorf A., Rittinger O., Roepke A., Winnepenninckx B., Kooy F., Holinski-Feder E., Wieacker P. Neurogenetics 6:45-47(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MRXSHF1 SER-409.
[36]	"ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern." Badens C., Martini N., Courrier S., DesPortes V., Touraine R., Levy N., Edery P. Am. J. Med. Genet. A 140:2212-2215(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ATRX CYS-246.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U72937 mRNA. Translation: AAB49970.2.
U72938 mRNA. Translation: AAB49971.2.
U72935 , U72904, U72905, U72907, U72908, U72909, U72910, U72911, U72912, U72913, U72914, U72915, U72916, U72917, U72918, U72919, U72920, U72921, U72922, U72923, U72924, U72925, U72926, U72927, U72928, U72929, U72930, U72931, U72932, U72933, U72934 Genomic DNA. Translation: AAB40698.1.
U72935 , U72904, U72907, U72908, U72909, U72910, U72911, U72912, U72913, U72914, U72915, U72916, U72918, U72919, U72920, U72921, U72922, U72923, U72924, U72925, U72926, U72927, U72928, U72929, U72930, U72931, U72932, U72933, U72934 Genomic DNA. Translation: AAB40699.1.
U72936 mRNA. Translation: AAB49969.1.
U72935 , U72908, U72909, U72910, U72911, U72912, U72913, U72914, U72915, U72916, U72917, U72918, U72920, U72921, U72922, U72923, U72924, U72925, U72926, U72927, U72928, U72929, U72930, U72931, U72932, U72933, U72934 Genomic DNA. Translation: AAB40700.1.
U75653 Genomic DNA. Translation: AAC51655.1.
U97103 , AF000157, AF000158, AF000159, AF000160, U97080, U97081, U97082, U97083, U97084, U97085, U97086, U97087, U97088, U97089, U97090, U97091, U97092, U97093, U97094, U97095, U97096, U97097, U97098, U97099, U97100, U97101, U97102 Genomic DNA. Translation: AAC51657.1.
AB102641 mRNA. Translation: BAC81110.1.
AB101681 Genomic DNA. Translation: BAC80270.1.
AB101682 Genomic DNA. Translation: BAC80271.1.
AB101683 Genomic DNA. Translation: BAC80272.1.
AB101685 Genomic DNA. Translation: BAC80274.1.
AB101687 Genomic DNA. Translation: BAC80276.1.
AB101689 Genomic DNA. Translation: BAC80278.1.
AB101691 Genomic DNA. Translation: BAC80280.1.
AB101693 Genomic DNA. Translation: BAC80282.1.
AB101695 Genomic DNA. Translation: BAC80284.1.
AB101700 Genomic DNA. Translation: BAC80289.1.
AB101699 Genomic DNA. Translation: BAC80288.1.
AB101698 Genomic DNA. Translation: BAC80287.1.
AB101697 Genomic DNA. Translation: BAC80286.1.
AB101696 Genomic DNA. Translation: BAC80285.1.
AB101694 Genomic DNA. Translation: BAC80283.1.
AB101692 Genomic DNA. Translation: BAC80281.1.
AB101690 Genomic DNA. Translation: BAC80279.1.
AB101688 Genomic DNA. Translation: BAC80277.1.
AB101686 Genomic DNA. Translation: BAC80275.1.
AB101684 Genomic DNA. Translation: BAC80273.1.
AB208928 mRNA. Translation: BAD92165.1. Different initiation.
AB209545 mRNA. Translation: BAD92782.1.
AL121874 Genomic DNA. Translation: CAB90351.2.
AL121874, AL109753, Z84487 Genomic DNA. Translation: CAI40710.1.
Z84487, AL109753, AL121874 Genomic DNA. Translation: CAI42674.1.
Z84487, AL109753, AL121874 Genomic DNA. Translation: CAI42675.1.
AL109753, AL121874, Z84487 Genomic DNA. Translation: CAI43115.1.
AL109753, AL121874, Z84487 Genomic DNA. Translation: CAI43116.1.
CH471104 Genomic DNA. Translation: EAW98611.1.
CH471104 Genomic DNA. Translation: EAW98615.1.
U09820 mRNA. Translation: AAC50069.1. Frameshift.
L34363 Genomic DNA. Translation: AAA20872.1. Sequence problems.
X83753 Genomic DNA. Translation: CAA58711.1.

IPI

IPI00220109.
IPI00297633.
IPI00845355.
IPI00883721.
IPI00938010.
IPI00940810.

PIR

I38614.
I54367.

RefSeq

NP_000480.2. NM_000489.3.
NP_612114.1. NM_138270.2.

UniGene

Hs.533526.
Hs.653797.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2JM1	NMR	-	A	159-296	[»]
2LBM	NMR	-	A	163-296	[»]
2LD1	NMR	-	A	163-296	[»]
3QL9	X-ray	0.93	A	167-289	[»]
3QLA	X-ray	1.60	A/D	167-289	[»]
3QLC	X-ray	2.50	A/B	167-289	[»]
3QLN	X-ray	1.90	A/B	167-289	[»]

ProteinModelPortal

P46100.

SMR

P46100. Positions 159-296.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-31532N.

IntAct

P46100. 8 interactions.

MINT

MINT-1186201.

PTM databases

PhosphoSite

P46100.

Polymorphism databases

DMDM

311033500.

Proteomic databases

PaxDb

P46100.

PRIDE

P46100.

Protocols and materials databases

DNASU

546.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000373344; ENSP00000362441; ENSG00000085224.
ENST00000395603; ENSP00000378967; ENSG00000085224.

GeneID

546.

KEGG

hsa:546.

UCSC

uc004eco.4. human.
uc004ecq.4. human.
uc004ecr.2. human.

Organism-specific databases

CTD

546.

GeneCards

GC0XM076760.

H-InvDB

HIX0176765.

HGNC

HGNC:886. ATRX.

HPA

CAB009372.
HPA001906.

MIM

300032. gene.
300448. phenotype.
301040. phenotype.
309580. phenotype.

neXtProt

NX_P46100.

Orphanet

847. Alpha thalassemia - X-linked intellectual deficit.
231401. Alpha-thalassemia - myelodysplastic syndrome.
93973. Carpenter-Waziri syndrome.
93971. Chudley-Lowry-Hoar syndrome.
93970. Holmes-Gang syndrome.
93972. Juberg-Marsidi syndrome.
93974. Smith-Fineman-Myers syndrome.
3423. Vasquez-Hurst-Sotos syndrome.

PharmGKB

PA25179.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0553.

HOVERGEN

HBG000104.

InParanoid

P46100.

KO

K10779.

OMA

GEGKWFR.

OrthoDB

EOG4PVNXQ.

PhylomeDB

P46100.

Gene expression databases

ArrayExpress

P46100.

Bgee

P46100.

CleanEx

HS_RAD54L.

Genevestigator

P46100.

GermOnline

ENSG00000085224. Homo sapiens.

Family and domain databases

Gene3D

3.30.40.10. 1 hit.

InterPro

IPR025766. ADD.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR000330. SNF2_N.
IPR011011. Znf_FYVE_PHD.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]

Pfam

PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]

SMART

SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00184. RING. 1 hit.
[Graphical view]

SUPFAM

SSF57903. FYVE_PHD_ZnF. 1 hit.

PROSITE

PS51533. ADD. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

DrugBank

DB00144. Phosphatidylserine.

EvolutionaryTrace

P46100.

GenomeRNAi

546.

NextBio

2259.

SOURCE

Search...

Entry information

Entry name

ATRX_HUMAN

Accession

Primary (citable) accession number: P46100
Secondary accession number(s): D3DTE2 , P51068, Q15886, Q59FB5, Q59H31, Q5H9A2, Q5JWI4, Q7Z2J1, Q9H0Z1, Q9NTS3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 153 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.