Reviewed, UniProtKB/Swiss-Prot P35240 (MERL_HUMAN)

Names and origin

Protein names

Recommended name:
    Merlin
Alternative name(s):
    Moesin-ezrin-radixin-like protein
    Neurofibromin-2
    Schwannomin
    Schwannomerlin

Gene names

Name:	NF2
Synonyms:	SCH

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	595 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Probably acts as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity.
Subunit structure	Interacts with SLC9A3R1, HGS and AGAP2. Interacts with LAYN By similarity. Interacts with SGSM3. Interacts (via FERM domain) with MPP1. Ref.9 Ref.10 Ref.11 Ref.12 Ref.15
Subcellular location	Isoform 1: Cell projection › filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection › ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note: In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Ref.15 Ref.4 Isoform 7: Cytoplasm › perinuclear region. Cytoplasmic granule. Note: Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia. Ref.15 Ref.4 Isoform 9: Cytoplasm › perinuclear region. Cytoplasmic granule. Note: Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia. Ref.15 Ref.4 Isoform 10: Nucleus. Cell projection › filopodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection › ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm › perinuclear region. Cytoplasmic granule. Cytoplasm › cytoskeleton. Note: In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Ref.15 Ref.4
Tissue specificity	Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.
Involvement in disease	Defects in NF2 are the cause of neurofibromatosis 2 (NF2) [MIM:101000]; also known as central neurofibromatosis. NF2 is a genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality. Ref.17 Ref.18 Ref.21 Ref.24 Ref.25 Ref.26 Ref.28 Ref.29 Ref.31 Ref.32 Ref.33 Defects in NF2 are a cause of schwannomatosis [MIM:162091]; also known as congenital cutaneous neurilemmomatosis. Schwannomas are benign tumors of the peripheral nerve sheath that usually occur singly in otherwise normal individuals. Multiple schwannomas in the same individual suggest an underlying tumor-predisposition syndrome. The most common such syndrome is NF2. The hallmark of NF2 is the development of bilateral vestibular-nerve schwannomas; but two-thirds or more of all NF2-affected individuals develop schwannomas in other locations, and dermal schwannomas may precede vestibular tumors in NF2-affected children. There have been several reports of individuals with multiple schwannomas who do not show evidence of vestibular schwannoma. Clinical report suggests that schwannomatosis is a clinical entity distinct from other forms of neurofibromatosis. Ref.35
Sequence similarities	Contains 1 FERM domain.

Ontologies

Keywords
Cellular component	Cell membrane Cell projection Cytoplasm Cytoskeleton Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation Tumor suppressor
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	Schwann cell proliferation Inferred from mutant phenotype. Source: HGNC actin cytoskeleton organization Inferred from mutant phenotype. Source: HGNC negative regulation of DNA replication Inferred from mutant phenotype. Source: HGNC negative regulation of cell migration Traceable author statement. Source: HGNC negative regulation of cell proliferation Inferred from direct assay. Source: HGNC negative regulation of cell-cell adhesion Inferred from direct assay. Source: HGNC negative regulation of cell-matrix adhesion Traceable author statement. Source: HGNC negative regulation of tyrosine phosphorylation of Stat3 protein Inferred from direct assay. Source: HGNC negative regulation of tyrosine phosphorylation of Stat5 protein Inferred from direct assay. Source: HGNC positive regulation of stress fiber assembly Inferred from mutant phenotype. Source: HGNC
Cellular component	cytoskeleton Ref.2 Traceable author statement. Source: ProtInc early endosome Ref.10 Inferred from direct assay. Source: HGNC extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleolus Inferred from direct assay. Source: HGNC perinuclear region of cytoplasm Inferred from direct assay. Source: HGNC
Molecular function	cytoskeletal protein binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GTPBP4	Q9BZE4	4	EBI-1014472,EBI-1056249
MED28	Q9H204	2	EBI-1014472,EBI-514199
MED28	Q9H204	2	EBI-1014500,EBI-514199
MED28	Q9H204	1	EBI-1014509,EBI-514199
MED28	Q9H204	1	EBI-1014505,EBI-514199
Ppp1r12a	Q10728	2	EBI-1014472,EBI-918263	From a different organism.
SCHIP1	Q9P0W5	1	EBI-1014472,EBI-1397509
SCHIP1	Q9P0W5-1	1	EBI-1014514,EBI-1397518
SCHIP1	Q9P0W5-1	1	EBI-1014472,EBI-1397518
Schip1	Q3TI53	1	EBI-1014472,EBI-1397475	From a different organism.

Alternative products

This entry describes 10 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P35240-1)

Also known as: I;

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.

Note: In a fibroblastic cell line, isoform 1 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Colocalizes with MPP1 in non-myelin-forming Schwann cells. Ref.15 Ref.4

Isoform 2 (identifier: P35240-2)

The sequence of this isoform differs from the canonical sequence as follows:
     580-595: LTLQSAKSRVAFFEEL → SSPRQKTYLHLSPQSRLFPGTLYVVMLYVVMVLPSVILTRA

Isoform 3 (identifier: P35240-3)

Also known as: II;

The sequence of this isoform differs from the canonical sequence as follows:
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Isoform 4 (identifier: P35240-4)

Also known as: delE2/3;

The sequence of this isoform differs from the canonical sequence as follows:
     39-121: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Isoform 5 (identifier: P35240-5)

Also known as: delE3;

The sequence of this isoform differs from the canonical sequence as follows:
     81-121: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Isoform 6 (identifier: P35240-6)

Also known as: delE2;

The sequence of this isoform differs from the canonical sequence as follows:
     39-80: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Isoform 7 (identifier: P35240-7)

Also known as: MER150;

The sequence of this isoform differs from the canonical sequence as follows:
     259-259: N → R
     260-595: Missing.

Note: Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 7 is absent from ruffling membranes and filopodia. Ref.15 Ref.4

Isoform 8 (identifier: P35240-8)

The sequence of this isoform differs from the canonical sequence as follows:
     335-363: Missing.
     580-590: LTLQSAKSRVA → PQAQGRRPICI
     591-595: Missing.

Isoform 9 (identifier: P35240-9)

Also known as: MER162;

The sequence of this isoform differs from the canonical sequence as follows:
     150-579: Missing.

Note: Observed in cytoplasmic granules concentrated in a perinuclear location. Isoform 9 is absent from ruffling membranes and filopodia. Ref.15 Ref.4

Isoform 10 (identifier: P35240-10)

Also known as: MER151;

The sequence of this isoform differs from the canonical sequence as follows:
     39-121: Missing.
     150-225: Missing.
     334-379: MERQRLAREK...ANEALMRSEE → GQRGRSAEAG...HEPNSSTVAS
     380-595: Missing.

Note: In a fibroblastic cell line, isoform 10 is found homogeneously distributed over the entire cell, with a particularly strong staining in ruffling membranes and filopodia. Ref.15 Ref.4

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 595

595

Merlin

PRO_0000219412

Regions

Domain

22 – 311

290

FERM

Compositional bias

327 – 465

139

Glu-rich

Amino acid modifications

Modified residue

518

1

Phosphoserine Ref.13 Ref.14

Natural variations

Alternative sequence

39 – 121

83

Missing in isoform 4 and isoform 10.

VSP_007041

Alternative sequence

39 – 80

42

Missing in isoform 6.

VSP_007040

Alternative sequence

81 – 121

41

Missing in isoform 5.

VSP_007042

Alternative sequence

150 – 579

430

Missing in isoform 9.

VSP_007044

Alternative sequence

150 – 225

76

Missing in isoform 10.

VSP_007043

Alternative sequence

259

1

N → R in isoform 7.

VSP_007045

Alternative sequence

260 – 595

336

Missing in isoform 7.

VSP_007046

Alternative sequence

334 – 379

46

MERQR…MRSEE → GQRGRSAEAGPAGSTRGGAK SQAEAPGDCHQAHVPAHEPN SSTVAS in isoform 10.

VSP_007047

Alternative sequence

335 – 363

29

Missing in isoform 8.

VSP_007048

Alternative sequence

380 – 595

216

Missing in isoform 10.

VSP_007049

Alternative sequence

580 – 595

16

LTLQS…FFEEL → SSPRQKTYLHLSPQSRLFPG TLYVVMLYVVMVLPSVILTR A in isoform 2.

VSP_000492

Alternative sequence

580 – 590

11

LTLQSAKSRVA → PQAQGRRPICI in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8.

VSP_007050

Alternative sequence

591 – 595

5

Missing in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 8.

VSP_007051

Natural variant

46

1

L → R in vestibular schwannoma. Ref.19

VAR_000809

Natural variant

62

1

F → S in NF2. Ref.21 Ref.29 Ref.32

VAR_000810

Natural variant

77

1

M → V in NF2. Ref.29

VAR_043011

Natural variant

79

1

K → E in vestibular schwannoma. Ref.22

VAR_000811

Natural variant

96

1

Missing in NF2 and in sporadic meningioma.

VAR_000812

Natural variant

106

1

E → G in NF2. Ref.21 Ref.29

VAR_000813

Natural variant

117

1

L → I in sporadic meningioma.

VAR_000814

Natural variant

119

1

Missing in sporadic meningioma.

VAR_000815

Natural variant

122 – 129

8

Missing in sporadic meningioma.

VAR_000816

Natural variant

141

1

L → P in NF2. Ref.33

VAR_043012

Natural variant

197

1

G → C in NF2. Ref.28

VAR_043013

Natural variant

219

1

V → M in vestibular schwannoma. Ref.20

VAR_000817

Natural variant

220

1

N → Y in NF2. Ref.17

VAR_000818

Natural variant

234

1

L → R in NF2 and in retinal hamartoma; severe. Ref.31

VAR_009123

Natural variant

273

1

I → F in breast ductal carcinoma. Ref.23

VAR_000819

Natural variant

339

1

L → F in sporadic meningioma.

VAR_000820

Natural variant

344

1

Q → H: dbSNP rs2229064.

VAR_048358

Natural variant

351

1

R → H

VAR_029041

Natural variant

352

1

T → M in NF2. Ref.21 Ref.29

VAR_000821

Natural variant

360

1

L → P in NF2.

VAR_000822

Natural variant

364

1

K → I in melanoma. Ref.23

VAR_000823

Natural variant

413

1

K → E in NF2. Ref.24 Ref.29

VAR_043014

Natural variant

418

1

R → C in vestibular schwannoma. Ref.20

VAR_000824

Natural variant

463

1

E → K in a breast cancer sample; somatic mutation. Ref.34

VAR_035848

Natural variant

533

1

K → T in NF2. Ref.32

VAR_043015

Natural variant

535

1

L → P in NF2; late onset. Ref.24 Ref.25 Ref.29

VAR_000825

Natural variant

538

1

Q → P in NF2; mild. Ref.26

VAR_000826

Natural variant

539

1

L → H in NF2. Ref.28

VAR_043016

Natural variant

579

1

K → M in NF2. Ref.32

VAR_043017

Experimental info

Mutagenesis

64

1

L → P: Abolishes binding to AGAP2. Ref.12

Sequence conflict

77

1

M → I in AAH20257. Ref.7

Sequence conflict

581

1

T → P in AAK54160. Ref.5

Sequence conflict

581

1

T → P in AAK54162. Ref.5

Secondary structure

1

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595

Helix Strand Turn

Details...

Beta strand

21 – 27

7

Beta strand

32 – 38

7

Helix

43 – 54

12

Helix

59 – 61

3

Beta strand

62 – 68

7

Beta strand

71 – 74

4

Helix

81 – 83

3

Beta strand

89 – 100

12

Helix

105 – 108

4

Helix

112 – 127

16

Helix

135 – 150

16

Turn

155 – 157

3

Turn

160 – 165

6

Helix

171 – 174

4

Helix

181 – 193

13

Turn

194 – 197

4

Helix

200 – 211

12

Turn

215 – 218

4

Beta strand

220 – 226

7

Beta strand

231 – 236

6

Beta strand

238 – 244

7

Beta strand

249 – 251

3

Beta strand

253 – 257

5

Helix

258 – 260

3

Beta strand

261 – 267

7

Beta strand

270 – 277

8

Beta strand

283 – 286

4

Helix

290 – 310

21

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (I) [UniParc]. Last modified February 1, 1994. Version 1. Checksum: B1A1BF2BD5DA561C	FASTA	595	69,690
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 130 140 150 160 170 180 QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 190 200 210 220 230 240 PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 250 260 270 280 290 300 LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC 310 320 330 340 350 360 IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE RTRDELERRL 370 380 390 400 410 420 LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ KAAEAEQEMQ RIKATAIRTE 430 440 450 460 470 480 EEKRLMEQKV LEAEVLALKM AEESERRAKE ADQLKQDLQE AREAERRAKQ KLLEIATKPT 490 500 510 520 530 540 YPPMNPIPAP LPPDIPSFNL IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN 550 560 570 580 590 ELKTEIEALK LKERETALDI LHNENSDRGG SSKHNTIKKL TLQSAKSRVA FFEEL
	Isoform 2. Checksum: 6A462A3A113A6C28	FASTA	620	72,514
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 130 140 150 160 170 180 QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 190 200 210 220 230 240 PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 250 260 270 280 290 300 LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC 310 320 330 340 350 360 IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE RTRDELERRL 370 380 390 400 410 420 LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ KAAEAEQEMQ RIKATAIRTE 430 440 450 460 470 480 EEKRLMEQKV LEAEVLALKM AEESERRAKE ADQLKQDLQE AREAERRAKQ KLLEIATKPT 490 500 510 520 530 540 YPPMNPIPAP LPPDIPSFNL IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN 550 560 570 580 590 600 ELKTEIEALK LKERETALDI LHNENSDRGG SSKHNTIKKS SPRQKTYLHL SPQSRLFPGT 610 620 LYVVMLYVVM VLPSVILTRA
	Isoform 3 (II). Checksum: 99B732B48367D22A	FASTA	590	69,090
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 130 140 150 160 170 180 QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 190 200 210 220 230 240 PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 250 260 270 280 290 300 LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC 310 320 330 340 350 360 IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMERQRLA REKQMREEAE RTRDELERRL 370 380 390 400 410 420 LQMKEEATMA NEALMRSEET ADLLAEKAQI TEEEAKLLAQ KAAEAEQEMQ RIKATAIRTE 430 440 450 460 470 480 EEKRLMEQKV LEAEVLALKM AEESERRAKE ADQLKQDLQE AREAERRAKQ KLLEIATKPT 490 500 510 520 530 540 YPPMNPIPAP LPPDIPSFNL IGDSLSFDFK DTDMKRLSME IEKEKVEYME KSKHLQEQLN 550 560 570 580 590 ELKTEIEALK LKERETALDI LHNENSDRGG SSKHNTIKKP QAQGRRPICI
	Isoform 4 (delE2/3). Checksum: DD8162ABBC9EA4CA	FASTA	507	59,096
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEVK KQILDEKIYC PPEASVLLAS 70 80 90 100 110 120 YAVQAKYGDY DPSVHKRGFL AQEELLPKRV INLYQMTPEM WEERITAWYA EHRGRARDEA 130 140 150 160 170 180 EMEYLKIAQD LEMYGVNYFA IRNKKGTELL LGVDALGLHI YDPENRLTPK ISFPWNEIRN 190 200 210 220 230 240 ISYSDKEFTI KPLDKKIDVF KFNSSKLRVN KLILQLCIGN HDLFMRRRKA DSLEVQQMKA 250 260 270 280 290 300 QAREEKARKQ MERQRLAREK QMREEAERTR DELERRLLQM KEEATMANEA LMRSEETADL 310 320 330 340 350 360 LAEKAQITEE EAKLLAQKAA EAEQEMQRIK ATAIRTEEEK RLMEQKVLEA EVLALKMAEE 370 380 390 400 410 420 SERRAKEADQ LKQDLQEARE AERRAKQKLL EIATKPTYPP MNPIPAPLPP DIPSFNLIGD 430 440 450 460 470 480 SLSFDFKDTD MKRLSMEIEK EKVEYMEKSK HLQEQLNELK TEIEALKLKE RETALDILHN 490 500 ENSDRGGSSK HNTIKKPQAQ GRRPICI
	Isoform 5 (delE3). Checksum: 905559E6F72D3F4C	FASTA	549	64,189
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VKKQILDEKI YCPPEASVLL ASYAVQAKYG DYDPSVHKRG 130 140 150 160 170 180 FLAQEELLPK RVINLYQMTP EMWEERITAW YAEHRGRARD EAEMEYLKIA QDLEMYGVNY 190 200 210 220 230 240 FAIRNKKGTE LLLGVDALGL HIYDPENRLT PKISFPWNEI RNISYSDKEF TIKPLDKKID 250 260 270 280 290 300 VFKFNSSKLR VNKLILQLCI GNHDLFMRRR KADSLEVQQM KAQAREEKAR KQMERQRLAR 310 320 330 340 350 360 EKQMREEAER TRDELERRLL QMKEEATMAN EALMRSEETA DLLAEKAQIT EEEAKLLAQK 370 380 390 400 410 420 AAEAEQEMQR IKATAIRTEE EKRLMEQKVL EAEVLALKMA EESERRAKEA DQLKQDLQEA 430 440 450 460 470 480 REAERRAKQK LLEIATKPTY PPMNPIPAPL PPDIPSFNLI GDSLSFDFKD TDMKRLSMEI 490 500 510 520 530 540 EKEKVEYMEK SKHLQEQLNE LKTEIEALKL KERETALDIL HNENSDRGGS SKHNTIKKPQ AQGRRPICI
	Isoform 6 (delE2). Checksum: 58E15B35515C10EE	FASTA	548	63,996
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEVL DHDVSKEEPV TFHFLAKFYP 70 80 90 100 110 120 ENAEEELVQE ITQHLFFLQV KKQILDEKIY CPPEASVLLA SYAVQAKYGD YDPSVHKRGF 130 140 150 160 170 180 LAQEELLPKR VINLYQMTPE MWEERITAWY AEHRGRARDE AEMEYLKIAQ DLEMYGVNYF 190 200 210 220 230 240 AIRNKKGTEL LLGVDALGLH IYDPENRLTP KISFPWNEIR NISYSDKEFT IKPLDKKIDV 250 260 270 280 290 300 FKFNSSKLRV NKLILQLCIG NHDLFMRRRK ADSLEVQQMK AQAREEKARK QMERQRLARE 310 320 330 340 350 360 KQMREEAERT RDELERRLLQ MKEEATMANE ALMRSEETAD LLAEKAQITE EEAKLLAQKA 370 380 390 400 410 420 AEAEQEMQRI KATAIRTEEE KRLMEQKVLE AEVLALKMAE ESERRAKEAD QLKQDLQEAR 430 440 450 460 470 480 EAERRAKQKL LEIATKPTYP PMNPIPAPLP PDIPSFNLIG DSLSFDFKDT DMKRLSMEIE 490 500 510 520 530 540 KEKVEYMEKS KHLQEQLNEL KTEIEALKLK ERETALDILH NENSDRGGSS KHNTIKKPQA QGRRPICI
	Isoform 7 (MER150). Checksum: 3C7B9CDBC884CDF6	FASTA	259	30,454
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 130 140 150 160 170 180 QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 190 200 210 220 230 240 PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 250 LHIYDPENRL TPKISFPWR
	Isoform 8. Checksum: 371C417ABDB68D02	FASTA	561	65,350
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 130 140 150 160 170 180 QVKKQILDEK IYCPPEASVL LASYAVQAKY GDYDPSVHKR GFLAQEELLP KRVINLYQMT 190 200 210 220 230 240 PEMWEERITA WYAEHRGRAR DEAEMEYLKI AQDLEMYGVN YFAIRNKKGT ELLLGVDALG 250 260 270 280 290 300 LHIYDPENRL TPKISFPWNE IRNISYSDKE FTIKPLDKKI DVFKFNSSKL RVNKLILQLC 310 320 330 340 350 360 IGNHDLFMRR RKADSLEVQQ MKAQAREEKA RKQMKEEATM ANEALMRSEE TADLLAEKAQ 370 380 390 400 410 420 ITEEEAKLLA QKAAEAEQEM QRIKATAIRT EEEKRLMEQK VLEAEVLALK MAEESERRAK 430 440 450 460 470 480 EADQLKQDLQ EAREAERRAK QKLLEIATKP TYPPMNPIPA PLPPDIPSFN LIGDSLSFDF 490 500 510 520 530 540 KDTDMKRLSM EIEKEKVEYM EKSKHLQEQL NELKTEIEAL KLKERETALD ILHNENSDRG 550 560 GSSKHNTIKK PQAQGRRPIC I
	Isoform 9 (MER162). Checksum: 01B92CD1AFEEB202	FASTA	165	19,215
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEMK WKGKDLFDLV CRTLGLRETW 70 80 90 100 110 120 FFGLQYTIKD TVAWLKMDKK VLDHDVSKEE PVTFHFLAKF YPENAEEELV QEITQHLFFL 130 140 150 160 QVKKQILDEK IYCPPEASVL LASYAVQAKL TLQSAKSRVA FFEEL
	Isoform 10 (MER151). Checksum: 05961D105F94276E	FASTA	220	24,515
	10 20 30 40 50 60 MAGAIASRMS FSSLKRKQPK TFTVRIVTMD AEMEFNCEVK KQILDEKIYC PPEASVLLAS 70 80 90 100 110 120 YAVQAKNKKG TELLLGVDAL GLHIYDPENR LTPKISFPWN EIRNISYSDK EFTIKPLDKK 130 140 150 160 170 180 IDVFKFNSSK LRVNKLILQL CIGNHDLFMR RRKADSLEVQ QMKAQAREEK ARKQGQRGRS 190 200 210 220 AEAGPAGSTR GGAKSQAEAP GDCHQAHVPA HEPNSSTVAS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor." Trofatter J.A., Maccollin M.M., Rutter J.L., Murrell J.R., Duyao M.P., Parry D.N., Eldridge R., Kley N., Menon A.G., Pulaski K., Haase V.H., Ambrose C.M., Munroe D., Bove C., Haines J.L., Martuza R.L., Macdonald M.E., Seizinger B.R. , Short M.P., Buckler A.J., Gusella J.F. Cell 72:791-800(1993) [PubMed: 8453669] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2." Rouleau G.A., Merel P., Lutchman M., Sanson M., Zucman J., Marineau C., Hoang-Xuan K., Demczuk S., Desmaze C., Plougastel B., Pulst S., Lenoir G., Bijlsma E., Fashold R., Dumanski J.P., de Jong P., Parry D., Eldrige R. , Aurias A., Delattre O., Thomas G. Nature 363:515-521(1993) [PubMed: 8379998] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"NF2 gene in neurofibromatosis type 2 patients." Zucman-Rossi J., Legoix P., Der Sarjussian H., Cheret G., Sor F., Bernardi A., Cazes L., Giraud S., Lenoir G., Thomas G. Hum. Mol. Genet. 7:2095-2101(1998) [PubMed: 9817927] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
[4]	"Novel alternatively spliced isoforms of the neurofibromatosis type 2 tumor suppressor are targeted to the nucleus and cytoplasmic granules." Schmucker B., Tang Y., Kressel M. Hum. Mol. Genet. 8:1561-1570(1999) [PubMed: 10401006] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 9 AND 10), SUBCELLULAR LOCATION.
[5]	"Multiple transcription initiation sites, alternative splicing, and differential polyadenylation contribute to the complexity of human neurofibromatosis 2 transcripts." Chang L.-S., Akhmametyeva E.M., Wu Y., Zhu L., Welling D.B. Genomics 79:63-76(2002) [PubMed: 11827459] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 4; 5; 6 AND 8).
[6]	"A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Lung and Skin.
[8]	"The gene of neurofibromatosis type 2." Marineau C., Merel P., Rouleau G.A., Thomas G. Medecine/Sciences 11:35-42(1995) Cited for: REVIEW.
[9]	"NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins." Murthy A., Gonzalez-Agosti C., Cordero E., Pinney D., Candia C., Solomon F., Gusella J., Ramesh V. J. Biol. Chem. 273:1273-1276(1998) [PubMed: 9430655] [Abstract] Cited for: INTERACTION WITH SLC9A3R1.
[10]	"The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate." Scoles D.R., Huynh D.P., Chen M.S., Burke S.P., Gutmann D.H., Pulst S.-M. Hum. Mol. Genet. 9:1567-1574(2000) [PubMed: 10861283] [Abstract] Cited for: INTERACTION WITH HGS.
[11]	"MAP, a protein interacting with a tumor suppressor, merlin, through the run domain." Lee I.K., Kim K.-S., Kim H., Lee J.Y., Ryu C.H., Chun H.J., Lee K.-U., Lim Y., Kim Y.H., Huh P.-W., Lee K.-H., Han S.-I., Jun T.-Y., Rha H.K. Biochem. Biophys. Res. Commun. 325:774-783(2004) [PubMed: 15541357] [Abstract] Cited for: INTERACTION WITH SGSM3.
[12]	"Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L." Rong R., Tang X., Gutmann D.H., Ye K. Proc. Natl. Acad. Sci. U.S.A. 101:18200-18205(2004) [PubMed: 15598747] [Abstract] Cited for: INTERACTION WITH AGAP2, MUTAGENESIS OF LEU-64.
[13]	"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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-518, MASS SPECTROMETRY. Tissue: Epithelium.
[14]	"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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-518, MASS SPECTROMETRY.
[15]	"Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin." Seo P.-S., Quinn B.J., Khan A.A., Zeng L., Takoudis C.G., Hanada T., Bolis A., Bolino A., Chishti A.H. Exp. Biol. Med. 234:255-262(2009) [PubMed: 19144871] [Abstract] Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
[16]	"The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product." Kang B.S., Cooper D.R., Devedjiev Y., Derewenda U., Derewenda Z.S. Acta Crystallogr. D 58:381-391(2002) [PubMed: 11856822] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 1-313.
[17]	"DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree." Maccollin M.M., Mohney T., Trofatter J.A., Wertelecki W., Ramesh V., Gusella J.F. JAMA 270:2316-2320(1993) [PubMed: 8230593] [Abstract] Cited for: VARIANT NF2 TYR-220.
[18]	"Mutational analysis of patients with neurofibromatosis 2." Maccollin M.M., Ramesh V., Jacoby L.B., Louis D.N., Rubio M.-P., Pulaski K., Trofatter J.A., Short M.P., Bove C., Eldridge R., Parry D.M., Gusella J.F. Am. J. Hum. Genet. 55:314-320(1994) [PubMed: 7913580] [Abstract] Cited for: VARIANT NF2 PHE-96 DEL.
[19]	"Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma." Irving R.M., Moffat D.A., Hardy D.G., Barton D.E., Xuereb J.H., Maher E.R. Hum. Mol. Genet. 3:347-350(1994) [PubMed: 8004107] [Abstract] Cited for: VARIANT ARG-46.
[20]	"Exon scanning for mutation of the NF2 gene in schwannomas." Jacoby L.B., Maccollin M.M., Louis D.N., Mohney T., Rubio M.-P., Pulaski K., Trofatter J.A., Kley N., Seizinger B.R., Ramesh V., Gusella J.F. Hum. Mol. Genet. 3:413-419(1994) [PubMed: 8012353] [Abstract] Cited for: VARIANTS MET-219 AND CYS-418.
[21]	"Germline mutations in the neurofibromatosis type 2 tumour suppressor gene." Bourn D., Carter S.A., Mason S., Gareth D., Evans R., Strachan T. Hum. Mol. Genet. 3:813-816(1994) [PubMed: 8081368] [Abstract] Cited for: VARIANTS NF2 SER-62; GLY-106 AND MET-352.
[22]	"Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas." Sainz J., Huynh D.P., Figueroa K., Ragge N.K., Baser M.E., Pulst S.M. Hum. Mol. Genet. 3:885-891(1994) [PubMed: 7951231] [Abstract] Cited for: VARIANTS GLU-79 AND HIS-351.
[23]	"Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types." Bianchi A.B., Hara T., Ramesh V., Gao J., Klein Szanto A.J., Morin F., Menon A.G., Trofatter J.A., Gusella J.F., Seizinger B.R., Kley N. Nat. Genet. 6:185-192(1994) [PubMed: 8162073] [Abstract] Cited for: VARIANTS PHE-273 AND ILE-364.
[24]	"Eleven novel mutations in the NF2 tumour suppressor gene." Bourn D., Evans G., Mason S., Tekes S., Trueman L., Strachan T. Hum. Genet. 95:572-574(1995) [PubMed: 7759081] [Abstract] Cited for: VARIANTS NF2 PHE-119 DEL; GLU-413 AND PRO-535.
[25]	"Diagnostic issues in a family with late onset type 2 neurofibromatosis." Evans D.G.R., Bourn D., Wallace A., Ramsden R.T., Mitchell J.D., Strachan T. J. Med. Genet. 32:470-474(1995) [PubMed: 7666400] [Abstract] Cited for: VARIANT NF2 PRO-535.
[26]	"A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2." Kluwe L., Mautner V.-F. Hum. Genet. 97:224-227(1996) [PubMed: 8566958] [Abstract] Cited for: VARIANT NF2 PRO-538.
[27]	"Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas." de Vitis L.R., Tedde A., Vitelli F., Ammannati F., Mennonna P., Bigozzi U., Montali E., Papi L. Hum. Genet. 97:632-637(1996) [PubMed: 8655144] [Abstract] Cited for: VARIANTS PHE-96 DEL; ILE-117; PHE-119 DEL; 122-VAL--GLU-129 DEL AND PHE-339.
[28]	"Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas." Welling D.B., Guida M., Goll F., Pearl D.K., Glasscock M.E., Pappas D.G., Linthicum F.H., Rogers D., Prior T.W. Hum. Genet. 98:189-193(1996) [PubMed: 8698340] [Abstract] Cited for: VARIANTS NF2 CYS-197 AND HIS-539.
[29]	"Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations." Evans D.G.R., Trueman L., Wallace A., Collins S., Strachan T. J. Med. Genet. 35:450-455(1998) [PubMed: 9643284] [Abstract] Cited for: VARIANTS NF2 SER-62; VAL-77; GLY-106; MET-352; GLU-413 AND PRO-535.
[30]	Erratum Evans D.G., Trueman L., Wallace A., Collins S., Strachan T. J. Med. Genet. 36:87-87(1999)
[31]	"Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities." Baser M.E., Kluwe L., Mautner V.-F. Am. J. Hum. Genet. 64:1230-1233(1999) [PubMed: 10090912] [Abstract] Cited for: VARIANT NF2 ARG-234.
[32]	"Detection of novel NF2 mutations by an RNA mismatch cleavage method." Faudoa R., Xue Z., Lee F., Baser M.E., Hung G. Hum. Mutat. 15:474-478(2000) [PubMed: 10790209] [Abstract] Cited for: VARIANTS NF2 SER-62; THR-533 AND MET-579.
[33]	"Preimplantation diagnosis for neurofibromatosis." Verlinsky Y., Rechitsky S., Verlinsky O., Chistokhina A., Sharapova T., Masciangelo C., Levy M., Kaplan B., Lederer K., Kuliev A. Reprod. BioMed. Online 4:218-222(2002) [PubMed: 12709270] [Abstract] Cited for: VARIANT NF2 PRO-141.
[34]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-463.
[35]	"Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas." Sestini R., Bacci C., Provenzano A., Genuardi M., Papi L. Hum. Mutat. 29:227-231(2008) [PubMed: 18072270] [Abstract] Cited for: INVOLVEMENT IN SCHWANNOMATOSIS.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

L11353 mRNA. Translation: AAA36212.1.
X72655 , X72656, X72657, X72658, X72659, X72660, X72661, X72662, X72663, X72664, X72665, X72666, X72667, X72668, X72669, X72670 Genomic DNA. Translation: CAA51220.1.
Z22664 mRNA. Translation: CAA80377.1.
Y18000 Genomic DNA. Translation: CAA76992.1.
Y18000 Genomic DNA. Translation: CAA76993.1.
AF122827 mRNA. Translation: AAD48752.1.
AF122828 mRNA. Translation: AAD48753.1.
AF123570 mRNA. Translation: AAD48754.1.
AF369657 mRNA. Translation: AAK54160.1.
AF369658 mRNA. Translation: AAK54161.1.
AF369661 mRNA. Translation: AAK54162.1.
AF369662 mRNA. Translation: AAK54163.1.
AF369663 mRNA. Translation: AAK54164.1.
AF369664 mRNA. Translation: AAK54165.1.
AF369665 mRNA. Translation: AAK54166.1.
AF369700 mRNA. Translation: AAK54195.1.
AF369701 mRNA. Translation: AAK54196.1.
CR456530 mRNA. Translation: CAG30416.1.
BC003112 mRNA. Translation: AAH03112.2.
BC020257 mRNA. Translation: AAH20257.1.

IPI

IPI00216128.
IPI00220308.
IPI00220310.
IPI00220311.
IPI00220312.
IPI00220314.
IPI00220315.
IPI00304755.
IPI00414202.
IPI00414431.

PIR

S33809.

RefSeq

NP_000259.1.
NP_057502.2.
NP_861546.1.
NP_861966.1.
NP_861967.1.
NP_861968.1.
NP_861969.1.
NP_861970.1.
NP_861971.1.

UniGene

Hs.187898

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1H4R	X-ray	1.80	A/B	1-313	[»]

SMR

P35240. Positions 18-340, 521-595.

ModBase

Search...

Protein-protein interaction databases

IntAct

P35240. 12 interactions.

STRING

P35240.

PTM databases

PhosphoSite

P35240.

Proteomic databases

PRIDE

P35240.

Genome annotation databases

Ensembl

ENST00000338641; ENSP00000344666; ENSG00000186575; Homo sapiens. [Genome view]

GeneID

4771.

KEGG

hsa:4771.

UCSC

uc003afy.2. human.
uc003afz.2. human.
uc003aga.2. human.
uc003age.2. human.
uc003agh.2. human.
uc003agj.2. human.

Organism-specific databases

CTD

4771.

GeneCards

GC22P028324.

H-InvDB

HIX0016355.

HGNC

HGNC:7773. NF2.

HPA

CAB005385.
HPA003097.

MIM

101000. phenotype.
162091. phenotype.
607379. gene.

Orphanet

2495. Meningioma.
637. Neurofibromatosis type 2.
93921. Neurofibromatosis, type 3.

PharmGKB

PA25629.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG08794.

HOVERGEN

P35240.

InParanoid

P35240.

OMA

PPDIPSF.

Gene expression databases

ArrayExpress

P35240.

Bgee

P35240.

Genevestigator

P35240.

GermOnline

ENSG00000186575. Homo sapiens.

Family and domain databases

InterPro

IPR015788. Band_4.1_merlin.
IPR019749. Band_41_domain.
IPR019750. Band_41_sg.
IPR011174. ERM.
IPR011259. ERM_C.
IPR000798. Ez/rad/moesin.
IPR014352. FERM/acyl-CoA_bd_prot_3-hlx.
IPR019748. FERM_central.
IPR019747. FERM_CS.
IPR000299. FERM_domain.
IPR018979. FERM_N.
IPR018980. FERM_PH-like_C.
IPR008954. Moesin.
[Graphical view]

Gene3D

G3DSA:1.20.80.10. ACBP. 1 hit.

PANTHER

PTHR23281:SF4. Band_4.1_merlin. 1 hit.

Pfam

PF00769. ERM. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]

PIRSF

PIRSF002305. ERM. 1 hit.

PRINTS

PR00935. BAND41.
PR00661. ERMFAMILY.

SMART

SM00295. B41. 1 hit.
[Graphical view]

PROSITE

PS00660. FERM_1. 1 hit.
PS00661. FERM_2. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

18368.

PMAP-CutDB

P35240.

SOURCE

Search...

Entry information

Entry name

MERL_HUMAN

Accession

Primary (citable) accession number: P35240
Secondary accession number(s): O95683 , Q8WUJ2, Q969N0, Q969Q3, Q96T30, Q96T31, Q96T32, Q96T33, Q9BTW3, Q9UNG9, Q9UNH3, Q9UNH4

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1994
Last sequence update:	February 1, 1994
Last modified:	February 9, 2010
This is version 127 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.