Reviewed, UniProtKB/Swiss-Prot Q9Y217 (MTMR6_HUMAN)

Names and origin

Protein names

Recommended name:
    Myotubularin-related protein 6
    EC=3.1.3.-

Gene names

Name:

MTMR6

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	621 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol-3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells. Ref.8 Ref.11
Subunit structure	Interacts with KCNN4, MTMR7, MTMR8 and MTMR9. Ref.8 Ref.1 Ref.10
Subcellular location	Nucleus envelope. Ref.10
Tissue specificity	Expressed in CD4+ T-cells. Ref.11
Sequence similarities	Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 myotubularin phosphatase domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Hydrolase
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	protein amino acid dephosphorylation Ref.7 Non-traceable author statement. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay. Source: LIFEdb nuclear envelope Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	calcium-activated potassium channel activity Ref.8 Inferred from direct assay. Source: UniProtKB protein serine/threonine phosphatase activity Ref.7 Non-traceable author statement. Source: UniProtKB protein tyrosine phosphatase activity Ref.7 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y217-1)

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 2 (identifier: Q9Y217-2)

The sequence of this isoform differs from the canonical sequence as follows:
     536-548: KIKQRKNKQTDGI → LTSYSSFKIIVGQ
     549-621: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 621	621	Myotubularin-related protein 6		PRO_0000094939
Regions
	Domain	124 – 499	376	Myotubularin phosphatase
	Region	248 – 251	4	Substrate binding By similarity
	Region	273 – 274	2	Substrate binding By similarity
	Region	336 – 342	7	Substrate binding By similarity
Sites
	Active site	336	1	Phosphocysteine intermediate By similarity
	Binding site	382	1	Substrate By similarity
Amino acid modifications
	Modified residue	108	1	Phosphotyrosine By similarity
	Modified residue	561	1	Phosphoserine Ref.9 Ref.12
	Modified residue	589	1	Phosphoserine Ref.12
Natural variations
	Alternative sequence	536 – 548	13	KIKQR…QTDGI → LTSYSSFKIIVGQ in isoform 2.		VSP_036614
	Alternative sequence	549 – 621	73	Missing in isoform 2.		VSP_036615
	Natural variant	131	1	A → T: dbSNP rs34885345.		VAR_057143
	Natural variant	319	1	V → I: dbSNP rs7995033. Ref.1 Ref.5		VAR_024583
Experimental info
	Sequence conflict	89	1	H → R in CAD89918. Ref.4
	Sequence conflict	114	1	P → S in BAG37162. Ref.3
	Sequence conflict	125	1	W → R in CAD89918. Ref.4
	Sequence conflict	333	1	L → S in AAL01037. Ref.2
	Sequence conflict	333	1	L → S in AAC78841. Ref.7
	Sequence conflict	368	1	I → T in BAG37162. Ref.3
	Sequence conflict	430	1	H → D in BAG52676. Ref.3
	Sequence conflict	442	1	Q → P in AAL01037. Ref.2
	Sequence conflict	442	1	Q → P in AAC78841. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 19, 2003. Version 2. Checksum: F2873A0BF462230E	FASTA	621	71,954
	10 20 30 40 50 60 MEHIRTTKVE QVKLLDRFST SNKSLTGTLY LTATHLLFID SHQKETWILH HHIASVEKLA 70 80 90 100 110 120 LTTSGCPLVI QCKNFRTVHF IVPRERDCHD IYNSLLQLSK QAKYEDLYAF SYNPKQNDSE 130 140 150 160 170 180 RLQGWQLIDL AEEYKRMGVP NSHWQLSDAN RDYKICETYP RELYVPRIAS KPIIVGSSKF 190 200 210 220 230 240 RSKGRFPVLS YYHQDKEAAI CRCSQPLSGF SARCLEDEHL LQAISKANPV NRYMYVMDTR 250 260 270 280 290 300 PKLNAMANRA AGKGYENEDN YSNIRFQFVG IENIHVMRSS LQKLLEVNGT KGLSVNDFYS 310 320 330 340 350 360 GLESSGWLRH IKAVMDAAVF LAKAITVENA SVLVHCSDGW DRTSQVCSLG SLLLDSYYRT 370 380 390 400 410 420 IKGFMVLIEK DWISFGHKFS ERCGQLDGDP KEVSPVFTQF LECVWHLTEQ FPQAFEFSEA 430 440 450 460 470 480 FLLQIHEHIH SCQFGNFLGN CQKEREELKL KEKTYSLWPF LLEDQKKYLN PLYSSESHRF 490 500 510 520 530 540 TVLEPNTVSF NFKFWRNMYH QFDRTLHPRQ SVFNIIMNMN EQNKQLEKDI KDLESKIKQR 550 560 570 580 590 600 KNKQTDGILT KELLHSVHPE SPNLKTSLCF KEQTLLPVND ALRTIEGSSP ADNRYSEYAE 610 620 EFSKSEPAVV SLEYGVARMT C
	Isoform 2. Checksum: E29E66518D0D9C30	FASTA	548	63,729
	10 20 30 40 50 60 MEHIRTTKVE QVKLLDRFST SNKSLTGTLY LTATHLLFID SHQKETWILH HHIASVEKLA 70 80 90 100 110 120 LTTSGCPLVI QCKNFRTVHF IVPRERDCHD IYNSLLQLSK QAKYEDLYAF SYNPKQNDSE 130 140 150 160 170 180 RLQGWQLIDL AEEYKRMGVP NSHWQLSDAN RDYKICETYP RELYVPRIAS KPIIVGSSKF 190 200 210 220 230 240 RSKGRFPVLS YYHQDKEAAI CRCSQPLSGF SARCLEDEHL LQAISKANPV NRYMYVMDTR 250 260 270 280 290 300 PKLNAMANRA AGKGYENEDN YSNIRFQFVG IENIHVMRSS LQKLLEVNGT KGLSVNDFYS 310 320 330 340 350 360 GLESSGWLRH IKAVMDAAVF LAKAITVENA SVLVHCSDGW DRTSQVCSLG SLLLDSYYRT 370 380 390 400 410 420 IKGFMVLIEK DWISFGHKFS ERCGQLDGDP KEVSPVFTQF LECVWHLTEQ FPQAFEFSEA 430 440 450 460 470 480 FLLQIHEHIH SCQFGNFLGN CQKEREELKL KEKTYSLWPF LLEDQKKYLN PLYSSESHRF 490 500 510 520 530 540 TVLEPNTVSF NFKFWRNMYH QFDRTLHPRQ SVFNIIMNMN EQNKQLEKDI KDLESLTSYS SFKIIVGQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9." Mochizuki Y., Majerus P.W. Proc. Natl. Acad. Sci. U.S.A. 100:9768-9773(2003) [PubMed: 12890864] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH MTMR9, VARIANT ILE-319.
[2]	Hong W. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Testis and Trachea.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skeletal muscle.
[5]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-319.
[6]	"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] (ISOFORM 1). Tissue: Eye.
[7]	"Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human." Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L. Hum. Mol. Genet. 7:1703-1712(1998) [PubMed: 9736772] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 157-621 (ISOFORM 1).
[8]	"The phosphatidylinositol 3-phosphate phosphatase myotubularin-related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1." Srivastava S., Li Z., Lin L., Liu G., Ko K., Coetzee W.A., Skolnik E.Y. Mol. Cell. Biol. 25:3630-3638(2005) [PubMed: 15831468] [Abstract] Cited for: FUNCTION, INTERACTION WITH KCNN4.
[9]	"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-561, MASS SPECTROMETRY. Tissue: Epithelium.
[10]	"Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions." Lorenzo O., Urbe S., Clague M.J. J. Cell Sci. 119:2953-2959(2006) [PubMed: 16787938] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MTMR7; MTMR8 AND MTMR9.
[11]	"Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells." Srivastava S., Ko K., Choudhury P., Li Z., Johnson A.K., Nadkarni V., Unutmaz D., Coetzee W.A., Skolnik E.Y. Mol. Cell. Biol. 26:5595-5602(2006) [PubMed: 16847315] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY.
[12]	"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-561 AND SER-589, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF406619 mRNA. Translation: AAL01037.1. AK093237 mRNA. Translation: BAG52676.1. AK314587 mRNA. Translation: BAG37162.1. AL832017 mRNA. Translation: CAD89918.1. AL590787 Genomic DNA. Translation: CAI39897.1. BC040012 mRNA. Translation: AAH40012.1. AF072928 mRNA. Translation: AAC78841.1.
IPI	IPI00329385. IPI00923409.
RefSeq	NP_004676.3.
UniGene	Hs.709385
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q9Y217.
Proteomic databases
PRIDE	Q9Y217.
Genome annotation databases
Ensembl	ENSG00000139505. Homo sapiens. [Contig view]
GeneID	9107.
KEGG	hsa:9107.
Organism-specific databases
GeneCards	GC13M024719.
H-InvDB	HIX0011183.
HGNC	HGNC:7453. MTMR6.
MIM	603561. gene.
PharmGKB	PA31256.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9Y217.
HOVERGEN	Q9Y217.
Gene expression databases
ArrayExpress	Q9Y217.
Bgee	Q9Y217.
CleanEx	HS_MTMR6.
GermOnline	ENSG00000139505. Homo sapiens.
Family and domain databases
InterPro	IPR010569. Myotub-related. IPR017906. Myotubularin_phosphatase. IPR016130. Tyr_Pase_AS. [Graphical view]
Pfam	PF06602. Myotub-related. 1 hit. [Graphical view]
PROSITE	PS51339. PPASE_MYOTUBULARIN. 1 hit. PS00383. TYR_PHOSPHATASE_1. 1 hit. PS50056. TYR_PHOSPHATASE_2. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	34137.
SOURCE	Search...

Entry information

Entry name

MTMR6_HUMAN

Accession

Primary (citable) accession number: Q9Y217
Secondary accession number(s): B2RBB5 , B3KSB4, Q5JRG6, Q86TB7, Q86YH4, Q96P80

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	July 19, 2003
Last modified:	June 16, 2009
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)