Q9C0I1 (MTMRC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Myotubularin-related protein 12

Alternative name(s):
Phosphatidylinositol-3 phosphate 3-phosphatase adapter subunit
Short name=3-PAP
Short name=3-phosphatase adapter protein

Gene names

Name:	MTMR12
Synonyms:	KIAA1682, PIP3AP

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	747 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location. Ref.1 Ref.6
Subunit structure	Interacts with myotubularin MTM1 and myotubularin-related MTMR2. Ref.6
Subcellular location	Cytoplasm. Note: Localizes to punctate vesicles when associated with MTM1. Ref.6
Tissue specificity	Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung. Ref.1
Sequence similarities	Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 myotubularin phosphatase domain.
Caution	Lacks the phosphocysteine intermediate Cys active site in position 391 that is replaced by a Glu residue, preventing the hydrolase activity.
Sequence caution	The sequence BAB21773.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	phosphatase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9C0I1-1)

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: Q9C0I1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     505-558: Missing.

Isoform 3 (identifier: Q9C0I1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     449-558: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 747	747	Myotubularin-related protein 12		PRO_0000315825
Regions
	Domain	205 – 643	439	Myotubularin phosphatase
	Region	449 – 558	110	Interaction with MTM1
Amino acid modifications
	Modified residue	572	1	Phosphoserine Ref.7
	Modified residue	573	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	449 – 558	110	Missing in isoform 3.		VSP_030721
	Alternative sequence	505 – 558	54	Missing in isoform 2.		VSP_030722
Experimental info
	Sequence conflict	197	1	D → V in BAA91195. Ref.3
	Sequence conflict	591	1	L → M in AAK26171. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: 1D11A678CC92F70B	FASTA	747	86,148
	10 20 30 40 50 60 MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ LLCEASTVLK 70 80 90 100 110 120 YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK NKVIGENDIT LHCVDQIYGV 130 140 150 160 170 180 FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR 190 200 210 220 230 240 LFLFSYATAA QNNTVTDPKN HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP 250 260 270 280 290 300 AYFVVPTPLP EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI 310 320 330 340 350 360 YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD IKWFSLLESS 370 380 390 400 410 420 SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL ISSLVQLMMD PHCRTRIGFQ 430 440 450 460 470 480 SLIQKEWVMG GHCFLDRCNH LRQNDKEEVP VFLLFLDCVW QLVHQHPPAF EFTETYLTVL 490 500 510 520 530 540 SDSLYIPIFS TFFFNSPHQK DTNMGREGQD TQSKPLNLLT VWDWSVQFEP KAQTLLKNPL 550 560 570 580 590 600 YVEKPKLDKG QRKGMRFKHQ RQLSLPLTQS KSSPKRGFFR EETDHLIKNL LGKRISKLIN 610 620 630 640 650 660 SSDELQDNFR EFYDSWHSKS TDYHGLLLPH IEGPEIKVWA QRYLRWIPEA QILGGGQVAT 670 680 690 700 710 720 LSKLLEMMEE VQSLQEKIDE RHHSQQAPQA EAPCLLRNSA RLSSLFPFAL LQRHSSKPVL 730 740 PTSGWKALGD EDDLAKREDE FVDLGDV
	Isoform 2 [UniParc]. Checksum: 8B6CCEA525562479	FASTA	693	79,836
	10 20 30 40 50 60 MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ LLCEASTVLK 70 80 90 100 110 120 YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK NKVIGENDIT LHCVDQIYGV 130 140 150 160 170 180 FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR 190 200 210 220 230 240 LFLFSYATAA QNNTVTDPKN HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP 250 260 270 280 290 300 AYFVVPTPLP EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI 310 320 330 340 350 360 YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD IKWFSLLESS 370 380 390 400 410 420 SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL ISSLVQLMMD PHCRTRIGFQ 430 440 450 460 470 480 SLIQKEWVMG GHCFLDRCNH LRQNDKEEVP VFLLFLDCVW QLVHQHPPAF EFTETYLTVL 490 500 510 520 530 540 SDSLYIPIFS TFFFNSPHQK DTNMHQRQLS LPLTQSKSSP KRGFFREETD HLIKNLLGKR 550 560 570 580 590 600 ISKLINSSDE LQDNFREFYD SWHSKSTDYH GLLLPHIEGP EIKVWAQRYL RWIPEAQILG 610 620 630 640 650 660 GGQVATLSKL LEMMEEVQSL QEKIDERHHS QQAPQAEAPC LLRNSARLSS LFPFALLQRH 670 680 690 SSKPVLPTSG WKALGDEDDL AKREDEFVDL GDV
	Isoform 3 [UniParc]. Checksum: A8B29D0F41C44F7A	FASTA	637	73,232
	10 20 30 40 50 60 MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ LLCEASTVLK 70 80 90 100 110 120 YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK NKVIGENDIT LHCVDQIYGV 130 140 150 160 170 180 FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR 190 200 210 220 230 240 LFLFSYATAA QNNTVTDPKN HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP 250 260 270 280 290 300 AYFVVPTPLP EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI 310 320 330 340 350 360 YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD IKWFSLLESS 370 380 390 400 410 420 SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL ISSLVQLMMD PHCRTRIGFQ 430 440 450 460 470 480 SLIQKEWVMG GHCFLDRCNH LRQNDKEEHQ RQLSLPLTQS KSSPKRGFFR EETDHLIKNL 490 500 510 520 530 540 LGKRISKLIN SSDELQDNFR EFYDSWHSKS TDYHGLLLPH IEGPEIKVWA QRYLRWIPEA 550 560 570 580 590 600 QILGGGQVAT LSKLLEMMEE VQSLQEKIDE RHHSQQAPQA EAPCLLRNSA RLSSLFPFAL 610 620 630 LQRHSSKPVL PTSGWKALGD EDDLAKREDE FVDLGDV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity." Nandurkar H.H., Caldwell K.K., Whisstock J.C., Layton M.J., Gaudet E.A., Norris F.A., Majerus P.W., Mitchell C.A. Proc. Natl. Acad. Sci. U.S.A. 98:9499-9504(2001) [PubMed: 11504939] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
[2]	"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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] (ISOFORM 3).
[4]	"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 2).
[5]	"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., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 354-747 (ISOFORM 1). Tissue: Melanoma.
[6]	"Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP." Nandurkar H.H., Layton M., Laporte J., Selan C., Corcoran L., Caldwell K.K., Mochizuki Y., Majerus P.W., Mitchell C.A. Proc. Natl. Acad. Sci. U.S.A. 100:8660-8665(2003) [PubMed: 12847286] [Abstract] Cited for: FUNCTION, INTERACTION WITH MTM1 AND MTMR2, SUBCELLULAR LOCATION, REGION.
[7]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-572 AND SER-573, MASS SPECTROMETRY. Tissue: Cervix carcinoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY028703 mRNA. Translation: AAK26171.1. AB051469 mRNA. Translation: BAB21773.1. Different initiation. AK000483 mRNA. Translation: BAA91195.1. BC057393 mRNA. Translation: AAH57393.1. AL833231 mRNA. Translation: CAH10604.1.
IPI	IPI00061280. IPI00301793. IPI00448020.
RefSeq	NP_001035536.1. NM_001040446.1.
UniGene	Hs.481836.
3D structure databases
ProteinModelPortal	Q9C0I1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9C0I1. 1 interaction.
STRING	Q9C0I1.
PTM databases
PhosphoSite	Q9C0I1.
Polymorphism databases
DMDM	166199459.
Proteomic databases
PRIDE	Q9C0I1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382142; ENSP00000371577; ENSG00000150712.
GeneID	54545.
KEGG	hsa:54545.
UCSC	uc003jhq.1. human. uc010iuk.1. human. uc010iul.1. human.
Organism-specific databases
CTD	54545.
GeneCards	GC05M032227.
H-InvDB	HIX0004786.
HGNC	HGNC:18191. MTMR12.
MIM	606501. gene.
neXtProt	NX_Q9C0I1.
PharmGKB	PA128394670.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15484.
GeneTree	ENSGT00560000076715.
HOGENOM	HBG505625.
HOVERGEN	HBG108154.
InParanoid	Q9C0I1.
OMA	PKNHTVM.
PhylomeDB	Q9C0I1.
Gene expression databases
Bgee	Q9C0I1.
CleanEx	HS_MTMR12.
Genevestigator	Q9C0I1.
Family and domain databases
InterPro	IPR022587. Myotubularin_assoc. IPR017906. Myotubularin_phosphatase_dom. [Graphical view]
Pfam	PF12578. 3-PAP. 1 hit. [Graphical view]
PROSITE	PS51339. PPASE_MYOTUBULARIN. 1 hit. PS00383. TYR_PHOSPHATASE_1. False negative. PS50056. TYR_PHOSPHATASE_2. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	56999.
SOURCE	Search...

Entry information

Entry name

MTMRC_HUMAN

Accession

Primary (citable) accession number: Q9C0I1
Secondary accession number(s): Q69YJ4 , Q6PFW3, Q96QU2, Q9NX27

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	January 25, 2012
This is version 55 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.