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Entry version 132 (02 Jun 2021)
Sequence version 2 (15 Jan 2008)
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Protein

Myotubularin-related protein 12

Gene

MTMR12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870).

Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870).

By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).

By similarity3 Publications

Caution

Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 391 in the dsPTPase catalytic loop and does not have phosphatase activity.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.1.3.64, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9C0I1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660516, Synthesis of PIPs at the early endosome membrane

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myotubularin-related protein 12
Alternative name(s):
Inactive phosphatidylinositol 3-phosphatase 12Curated
Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit
Short name:
3-PAP
Short name:
3-phosphatase adapter protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MTMR12
Synonyms:KIAA1682, PIP3AP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:18191, MTMR12

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606501, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9C0I1

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000150712.10

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
54545

Open Targets

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OpenTargetsi
ENSG00000150712

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128394670

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9C0I1, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MTMR12

Domain mapping of disease mutations (DMDM)

More...
DMDMi
166199459

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003158251 – 747Myotubularin-related protein 12Add BLAST747

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei564PhosphoserineCombined sources1
Modified residuei601PhosphoserineBy similarity1
Modified residuei716PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9C0I1

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9C0I1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9C0I1

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9C0I1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9C0I1

PeptideAtlas

More...
PeptideAtlasi
Q9C0I1

PRoteomics IDEntifications database

More...
PRIDEi
Q9C0I1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80050 [Q9C0I1-1]
80051 [Q9C0I1-2]
80052 [Q9C0I1-3]

PTM databases

DEPOD human dephosphorylation database

More...
DEPODi
MTMR12

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9C0I1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9C0I1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in skeletal muscles (at protein level) (PubMed:23818870). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung (PubMed:11504939).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000150712, Expressed in adipose tissue and 220 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9C0I1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9C0I1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000150712, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with lipid phosphatase MTM1 (PubMed:12847286, PubMed:23818870). Heterodimer with lipid phosphatase MTMR2 (PubMed:12847286).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120032, 26 interactors

Protein interaction database and analysis system

More...
IntActi
Q9C0I1, 8 interactors

Molecular INTeraction database

More...
MINTi
Q9C0I1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000371577

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9C0I1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini205 – 643Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST439

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni449 – 558Interaction with MTM11 PublicationAdd BLAST110

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1089, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000160263

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_021912_2_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9C0I1

Identification of Orthologs from Complete Genome Data

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OMAi
DEFEFTQ

Database of Orthologous Groups

More...
OrthoDBi
620702at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C0I1

TreeFam database of animal gene trees

More...
TreeFami
TF315197

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030576, MTMR12
IPR022587, MTMR12-like_C
IPR010569, Myotubularin-like_Pase_dom
IPR030564, Myotubularin_fam
IPR029021, Prot-tyrosine_phosphatase-like

The PANTHER Classification System

More...
PANTHERi
PTHR10807, PTHR10807, 1 hit
PTHR10807:SF37, PTHR10807:SF37, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12578, 3-PAP, 1 hit
PF06602, Myotub-related, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52799, SSF52799, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51339, PPASE_MYOTUBULARIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0I1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLGKGVVGGG GGTKAPKPSF VSYVRPEEIH TNEKEVTEKE VTLHLLPGEQ
60 70 80 90 100
LLCEASTVLK YVQEDSCQHG VYGRLVCTDF KIAFLGDDES ALDNDETQFK
110 120 130 140 150
NKVIGENDIT LHCVDQIYGV FDEKKKTLFG QLKKYPEKLI IHCKDLRVFQ
160 170 180 190 200
FCLRYTKEEE VKRIVSGIIH HTQAPKLLKR LFLFSYATAA QNNTVTDPKN
210 220 230 240 250
HTVMFDTLKD WCWELERTKG NMKYKAVSVN EGYKVCERLP AYFVVPTPLP
260 270 280 290 300
EENVQRFQGH GIPIWCWSCH NGSALLKMSA LPKEQDDGIL QIQKSFLDGI
310 320 330 340 350
YKTIHRPPYE IVKTEDLSSN FLSLQEIQTA YSKFKQLFLI DNSTEFWDTD
360 370 380 390 400
IKWFSLLESS SWLDIIRRCL KKAIEITECM EAQNMNVLLL EENASDLCCL
410 420 430 440 450
ISSLVQLMMD PHCRTRIGFQ SLIQKEWVMG GHCFLDRCNH LRQNDKEEVP
460 470 480 490 500
VFLLFLDCVW QLVHQHPPAF EFTETYLTVL SDSLYIPIFS TFFFNSPHQK
510 520 530 540 550
DTNMGREGQD TQSKPLNLLT VWDWSVQFEP KAQTLLKNPL YVEKPKLDKG
560 570 580 590 600
QRKGMRFKHQ RQLSLPLTQS KSSPKRGFFR EETDHLIKNL LGKRISKLIN
610 620 630 640 650
SSDELQDNFR EFYDSWHSKS TDYHGLLLPH IEGPEIKVWA QRYLRWIPEA
660 670 680 690 700
QILGGGQVAT LSKLLEMMEE VQSLQEKIDE RHHSQQAPQA EAPCLLRNSA
710 720 730 740
RLSSLFPFAL LQRHSSKPVL PTSGWKALGD EDDLAKREDE FVDLGDV
Length:747
Mass (Da):86,148
Last modified:January 15, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1D11A678CC92F70B
GO
Isoform 2 (identifier: Q9C0I1-2) [UniParc]FASTAAdd to basket

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

Show »
Length:693
Mass (Da):79,836
Checksum:i8B6CCEA525562479
GO
Isoform 3 (identifier: Q9C0I1-3) [UniParc]FASTAAdd to basket

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

Show »
Length:637
Mass (Da):73,232
Checksum:iA8B29D0F41C44F7A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RE76D6RE76_HUMAN
Myotubularin-related protein 12
MTMR12
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RHK0D6RHK0_HUMAN
Myotubularin-related protein 12
MTMR12
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB21773 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti197D → V in BAA91195 (PubMed:14702039).Curated1
Sequence conflicti591L → M in AAK26171 (PubMed:11504939).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_030721449 – 558Missing in isoform 3. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_030722505 – 558Missing in isoform 2. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34138.1 [Q9C0I1-1]
CCDS75230.1 [Q9C0I1-3]
CCDS77998.1 [Q9C0I1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001035536.1, NM_001040446.2 [Q9C0I1-1]
NP_001281272.1, NM_001294343.1 [Q9C0I1-2]
NP_001281273.1, NM_001294344.1 [Q9C0I1-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264934; ENSP00000264934; ENSG00000150712 [Q9C0I1-3]
ENST00000280285; ENSP00000280285; ENSG00000150712 [Q9C0I1-2]
ENST00000382142; ENSP00000371577; ENSG00000150712 [Q9C0I1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54545

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54545

UCSC genome browser

More...
UCSCi
uc003jhq.4, human [Q9C0I1-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS34138.1 [Q9C0I1-1]
CCDS75230.1 [Q9C0I1-3]
CCDS77998.1 [Q9C0I1-2]
RefSeqiNP_001035536.1, NM_001040446.2 [Q9C0I1-1]
NP_001281272.1, NM_001294343.1 [Q9C0I1-2]
NP_001281273.1, NM_001294344.1 [Q9C0I1-3]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
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Protein-protein interaction databases

BioGRIDi120032, 26 interactors
IntActiQ9C0I1, 8 interactors
MINTiQ9C0I1
STRINGi9606.ENSP00000371577

PTM databases

DEPODiMTMR12
iPTMnetiQ9C0I1
PhosphoSitePlusiQ9C0I1

Genetic variation databases

BioMutaiMTMR12
DMDMi166199459

Proteomic databases

EPDiQ9C0I1
jPOSTiQ9C0I1
MassIVEiQ9C0I1
MaxQBiQ9C0I1
PaxDbiQ9C0I1
PeptideAtlasiQ9C0I1
PRIDEiQ9C0I1
ProteomicsDBi80050 [Q9C0I1-1]
80051 [Q9C0I1-2]
80052 [Q9C0I1-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
9766, 104 antibodies

The DNASU plasmid repository

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DNASUi
54545

Genome annotation databases

EnsembliENST00000264934; ENSP00000264934; ENSG00000150712 [Q9C0I1-3]
ENST00000280285; ENSP00000280285; ENSG00000150712 [Q9C0I1-2]
ENST00000382142; ENSP00000371577; ENSG00000150712 [Q9C0I1-1]
GeneIDi54545
KEGGihsa:54545
UCSCiuc003jhq.4, human [Q9C0I1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54545
DisGeNETi54545

GeneCards: human genes, protein and diseases

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GeneCardsi
MTMR12
HGNCiHGNC:18191, MTMR12
HPAiENSG00000150712, Low tissue specificity
MIMi606501, gene
neXtProtiNX_Q9C0I1
OpenTargetsiENSG00000150712
PharmGKBiPA128394670
VEuPathDBiHostDB:ENSG00000150712.10

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1089, Eukaryota
GeneTreeiENSGT00940000160263
HOGENOMiCLU_021912_2_0_1
InParanoidiQ9C0I1
OMAiDEFEFTQ
OrthoDBi620702at2759
PhylomeDBiQ9C0I1
TreeFamiTF315197

Enzyme and pathway databases

BRENDAi3.1.3.64, 2681
PathwayCommonsiQ9C0I1
ReactomeiR-HSA-1660516, Synthesis of PIPs at the early endosome membrane

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54545, 5 hits in 994 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MTMR12, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54545
PharosiQ9C0I1, Tbio

Protein Ontology

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PROi
PR:Q9C0I1
RNActiQ9C0I1, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000150712, Expressed in adipose tissue and 220 other tissues
ExpressionAtlasiQ9C0I1, baseline and differential
GenevisibleiQ9C0I1, HS

Family and domain databases

InterProiView protein in InterPro
IPR030576, MTMR12
IPR022587, MTMR12-like_C
IPR010569, Myotubularin-like_Pase_dom
IPR030564, Myotubularin_fam
IPR029021, Prot-tyrosine_phosphatase-like
PANTHERiPTHR10807, PTHR10807, 1 hit
PTHR10807:SF37, PTHR10807:SF37, 1 hit
PfamiView protein in Pfam
PF12578, 3-PAP, 1 hit
PF06602, Myotub-related, 1 hit
SUPFAMiSSF52799, SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339, PPASE_MYOTUBULARIN, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTMRC_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9C0I1
Secondary accession number(s): Q69YJ4
, Q6PFW3, Q96QU2, Q9NX27
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: June 2, 2021
This is version 132 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
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