Q9NYA4 (MTMR4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myotubularin-related protein 4
EC=3.1.3.48

Alternative name(s):
FYVE domain-containing dual specificity protein phosphatase 2
Short name=FYVE-DSP2
Zinc finger FYVE domain-containing protein 11

Gene names

Name:	MTMR4
Synonyms:	KIAA0647, ZFYVE11

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	1195 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3). Ref.1
Catalytic activity	Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
Subcellular location	Cytoplasm. Membrane; Peripheral membrane protein. Note: Localized to perinuclear region. Ref.1
Tissue specificity	Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow. Ref.1
Developmental stage	Expressed in fetal brain and fetal liver. Ref.1
Sequence similarities	Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 FYVE-type zinc finger. Contains 1 myotubularin phosphatase domain.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Polymorphism
Domain	Coiled coil Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Hydrolase Protein phosphatase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of transforming growth factor beta receptor signaling pathway Traceable author statement. Source: Reactome phosphatidylinositol biosynthetic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome transforming growth factor beta receptor signaling pathway Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome early endosome membrane Traceable author statement. Source: Reactome
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein serine/threonine phosphatase activity Traceable author statement. Source: Reactome protein tyrosine phosphatase activity Traceable author statement PubMed 9736772. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1195	1195	Myotubularin-related protein 4		PRO_0000304809
Regions
	Domain	153 – 570	418	Myotubularin phosphatase
	Zinc finger	1114 – 1174	61	FYVE-type
	Region	320 – 323	4	Substrate binding By similarity
	Region	345 – 346	2	Substrate binding By similarity
	Region	407 – 413	7	Substrate binding By similarity
	Coiled coil	1023 – 1055	33	Potential
Sites
	Active site	407	1	Phosphocysteine intermediate By similarity
	Binding site	453	1	Substrate By similarity
Natural variations
	Natural variant	170	1	L → V. Ref.1 Ref.2 Corresponds to variant rs3744108 [ dbSNP | Ensembl ].		VAR_035110
	Natural variant	280	1	S → G. Ref.6 Corresponds to variant rs2302190 [ dbSNP | Ensembl ].		VAR_035111
	Natural variant	297	1	V → G. Corresponds to variant rs2302189 [ dbSNP | Ensembl ].		VAR_035112

Sequences

	Sequence		Length	Mass (Da)
	Q9NYA4 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 936EC3F69335CEB4	FASTA	1,195	133,353
	10 20 30 40 50 60 MGEEGPPSLE YIQAKDLFPP KELVKEEENL QVPFTVLQGE GVEFLGRAAD ALIAISNYRL 70 80 90 100 110 120 HIKFKDSVIN VPLRMIDSVE SRDMFQLHIS CKDSKVVRCH FSTFKQCQEW LSRLSRATAR 130 140 150 160 170 180 PAKPEDLFAF AYHAWCLGLT EEDQHTHLCQ PGEHIRCRQE AELARMGFDL QNVWRVSHIN 190 200 210 220 230 240 SNYKLCPSYP QKLLVPVWIT DKELENVASF RSWKRIPVVV YRHLRNGAAI ARCSQPEISW 250 260 270 280 290 300 WGWRNADDEY LVTSIAKACA LDPGTRATGG SLSTGNNDTS EACDADFDSS LTACSGVEST 310 320 330 340 350 360 AAPQKLLILD ARSYTAAVAN RAKGGGCECE EYYPNCEVVF MGMANIHAIR NSFQYLRAVC 370 380 390 400 410 420 SQMPDPSNWL SALESTKWLQ HLSVMLKAAV LVANTVDREG RPVLVHCSDG WDRTPQIVAL 430 440 450 460 470 480 AKILLDPYYR TLEGFQVLVE SDWLDFGHKF GDRCGHQENV EDQNEQCPVF LQWLDSVHQL 490 500 510 520 530 540 LKQFPCLFEF NEAFLVKLVQ HTYSCLYGTF LANNPCEREK RNIYKRTCSV WALLRAGNKN 550 560 570 580 590 600 FHNFLYTPSS DMVLHPVCHV RALHLWTAVY LPASSPCTLG EENMDLYLSP VAQSQEFSGR 610 620 630 640 650 660 SLDRLPKTRS MDDLLSACDT SSPLTRTSSD PNLNNHCQEV RVGLEPWHSN PEGSETSFVD 670 680 690 700 710 720 SGVGGPQQTV GEVGLPPPLP SSQKDYLSNK PFKSHKSCSP SYKLLNTAVP REMKSNTSDP 730 740 750 760 770 780 EIKVLEETKG PAPDPSAQDE LGRTLDGIGE PPEHCPETEA VSALSKVISN KCDGVCNFPE 790 800 810 820 830 840 SSQNSPTGTP QQAQPDSMLG VPSKCVLDHS LSTVCNPPSA ACQTPLDPST DFLNQDPSGS 850 860 870 880 890 900 VASISHQEQL SSVPDLTHGE EDIGKRGNNR NGQLLENPRF GKMPLELVRK PISQSQISEF 910 920 930 940 950 960 SFLGSNWDSF QGMVTSFPSG EATPRRLLSY GCCSKRPNSK QMRATGPCFG GQWAQREGVK 970 980 990 1000 1010 1020 SPVCSSHSNG HCTGPGGKNQ MWLSSHPKQV SSTKPVPLNC PSPVPPLYLD DDGLPFPTDV 1030 1040 1050 1060 1070 1080 IQHRLRQIEA GYKQEVEQLR RQVRELQMRL DIRHCCAPPA EPPMDYEDDF TCLKESDGSD 1090 1100 1110 1120 1130 1140 TEDFGSDHSE DCLSEASWEP VDKKETEVTR WVPDHMASHC YNCDCEFWLA KRRHHCRNCG 1150 1160 1170 1180 1190 NVFCAGCCHL KLPIPDQQLY DPVLVCNSCY EHIQVSRARE LMSQQLKKPI ATASS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphatidylinositol 3-phosphate." Zhao R., Qi Y., Chen J., Zhao Z.J. Exp. Cell Res. 265:329-338(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT VAL-170.
[2]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-170. Tissue: Brain.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION.
[4]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-280. Tissue: Lung.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF264717 mRNA. Translation: AAF72539.1. AB014547 mRNA. Translation: BAA31622.2. AC005666 Genomic DNA. No translation available. CH471109 Genomic DNA. Translation: EAW94454.1. CH471109 Genomic DNA. Translation: EAW94455.1. BC035609 mRNA. Translation: AAH35609.1.
IPI	IPI00292693.
PIR	T00375.
RefSeq	NP_004678.3. NM_004687.4.
UniGene	Hs.514373.
3D structure databases
ProteinModelPortal	Q9NYA4.
SMR	Q9NYA4. Positions 48-571, 1111-1173.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1193708.
STRING	9606.ENSP00000325285.
PTM databases
PhosphoSite	Q9NYA4.
Proteomic databases
PaxDb	Q9NYA4.
PRIDE	Q9NYA4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323456; ENSP00000325285; ENSG00000108389.
GeneID	9110.
KEGG	hsa:9110.
UCSC	uc002iwj.2. human.
Organism-specific databases
CTD	9110.
GeneCards	GC17M056566.
H-InvDB	HIX0202387.
HGNC	HGNC:7452. MTMR4.
HPA	HPA043852.
MIM	603559. gene.
neXtProt	NX_Q9NYA4.
PharmGKB	PA31255.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG322789.
HOGENOM	HOG000004861.
HOVERGEN	HBG052526.
InParanoid	Q9NYA4.
OMA	GHCTGPG.
OrthoDB	EOG4R501X.
PhylomeDB	Q9NYA4.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction. REACT_111217. Metabolism.
SignaLink	Q9NYA4.
Gene expression databases
Bgee	Q9NYA4.
CleanEx	HS_MTMR4.
Genevestigator	Q9NYA4.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR010569. Myotub-related. IPR017906. Myotubularin_phosphatase_dom. IPR000387. Tyr/Dual-sp_Pase. IPR016130. Tyr_Pase_AS. IPR000306. Znf_FYVE. IPR017455. Znf_FYVE-rel. IPR011011. Znf_FYVE_PHD. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF01363. FYVE. 1 hit. PF06602. Myotub-related. 1 hit. [Graphical view]
SMART	SM00064. FYVE. 1 hit. [Graphical view]
SUPFAM	SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITE	PS51339. PPASE_MYOTUBULARIN. 1 hit. PS00383. TYR_PHOSPHATASE_1. 1 hit. PS50056. TYR_PHOSPHATASE_2. 1 hit. PS50178. ZF_FYVE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MTMR4. human.
GenomeRNAi	9110.
NextBio	34145.
SOURCE	Search...

Entry information

Entry name

MTMR4_HUMAN

Accession

Primary (citable) accession number: Q9NYA4
Secondary accession number(s): D3DTZ6, Q8IV27, Q9Y4D5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	May 18, 2010
Last modified:	May 29, 2013
This is version 88 of the entry and version 2 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.