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Protein

Myotubularin-related protein 14

Gene

MTMR14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei330Phosphocysteine intermediateBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS08920-MONOMER.
ZFISH:HS08920-MONOMER.
BRENDAi3.1.3.64. 2681.
ReactomeiR-HSA-1632852. Macroautophagy.
R-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 14 (EC:3.1.3.-)
Alternative name(s):
HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
Short name:
NS5ATP4ABP1
hJumpy
Gene namesi
Name:MTMR14
Synonyms:C3orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:26190. MTMR14.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • perinuclear region of cytoplasm Source: UniProtKB
  • ruffle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 1 (CNM1)1 Publication
The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356).1 Publication
Disease descriptionA congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
See also OMIM:160150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033370336R → Q in CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity. 1 PublicationCorresponds to variant rs121434509dbSNPEnsembl.1
Natural variantiVAR_033371462Y → C in CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity. 1 PublicationCorresponds to variant rs121434510dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi330C → S: Drastically reduced enzymatic activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64419.
MalaCardsiMTMR14.
MIMi160150. phenotype.
OpenTargetsiENSG00000163719.
Orphaneti169189. Autosomal dominant centronuclear myopathy.
PharmGKBiPA162396265.

Polymorphism and mutation databases

BioMutaiMTMR14.
DMDMi118568016.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002602141 – 650Myotubularin-related protein 14Add BLAST650

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei194N6-acetyllysineCombined sources1
Glycosylationi226N-linked (GlcNAc...)Sequence analysis1
Modified residuei518PhosphoserineCombined sources1
Glycosylationi519N-linked (GlcNAc...)Sequence analysis1
Modified residuei530PhosphoserineCombined sources1
Modified residuei580PhosphoserineCombined sources1
Modified residuei624PhosphoserineCombined sources1
Modified residuei638Omega-N-methylarginineCombined sources1

Keywords - PTMi

Acetylation, Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

EPDiQ8NCE2.
MaxQBiQ8NCE2.
PaxDbiQ8NCE2.
PeptideAtlasiQ8NCE2.
PRIDEiQ8NCE2.

PTM databases

DEPODiQ8NCE2.
iPTMnetiQ8NCE2.
PhosphoSitePlusiQ8NCE2.

Expressioni

Tissue specificityi

Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000163719.
ExpressionAtlasiQ8NCE2. baseline and differential.
GenevisibleiQ8NCE2. HS.

Organism-specific databases

HPAiHPA054063.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
TP53BP2Q13625-33EBI-5658424,EBI-10175039

Protein-protein interaction databases

BioGridi122168. 8 interactors.
IntActiQ8NCE2. 7 interactors.
MINTiMINT-3042111.
STRINGi9606.ENSP00000296003.

Structurei

3D structure databases

ProteinModelPortaliQ8NCE2.
SMRiQ8NCE2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi512 – 518Poly-Ser7

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IHSK. Eukaryota.
ENOG410XSF4. LUCA.
GeneTreeiENSGT00390000018852.
HOVERGENiHBG062969.
InParanoidiQ8NCE2.
KOiK18086.
OMAiDTHLFDK.
OrthoDBiEOG091G03F3.
PhylomeDBiQ8NCE2.
TreeFamiTF324044.

Family and domain databases

Gene3Di3.90.190.10. 2 hits.
InterProiIPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NCE2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAGARAAAAA ASAGSSASSG NQPPQELGLG ELLEEFSRTQ YRAKDGSGTG
60 70 80 90 100
GSKVERIEKR CLELFGRDYC FSVIPNTNGD ICGHYPRHIV FLEYESSEKE
110 120 130 140 150
KDTFESTVQV SKLQDLIHRS KMARCRGRFV CPVILFKGKH ICRSATLAGW
160 170 180 190 200
GELYGRSGYN YFFSGGADDA WADVEDVTEE DCALRSGDTH LFDKVRGYDI
210 220 230 240 250
KLLRYLSVKY ICDLMVENKK VKFGMNVTSS EKVDKAQRYA DFTLLSIPYP
260 270 280 290 300
GCEFFKEYKD RDYMAEGLIF NWKQDYVDAP LSIPDFLTHS LNIDWSQYQC
310 320 330 340 350
WDLVQQTQNY LKLLLSLVNS DDDSGLLVHC ISGWDRTPLF ISLLRLSLWA
360 370 380 390 400
DGLIHTSLKP TEILYLTVAY DWFLFGHMLV DRLSKGEEIF FFCFNFLKHI
410 420 430 440 450
TSEEFSALKT QRRKSLPARD GGFTLEDICM LRRKDRGSTT SLGSDFSLVM
460 470 480 490 500
ESSPGATGSF TYEAVELVPA GAPTQAAWRK SHSSSPQSVL WNRPQPSEDR
510 520 530 540 550
LPSQQGLAEA RSSSSSSSNH SDNFFRMGSS PLEVPKPRSV DHPLPGSSLS
560 570 580 590 600
TDYGSWQMVT GCGSIQERAV LHTDSSLPFS FPDELPNSCL LAALSDRETR
610 620 630 640 650
LQEVRSAFLA AYSSTVGLRA VAPSPSGAIG GLLEQFARGV GLRSISSNAL
Length:650
Mass (Da):72,203
Last modified:November 28, 2006 - v2
Checksum:iC1B70E5140EF0716
GO
Isoform 2 (identifier: Q8NCE2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     539-590: Missing.

Show »
Length:598
Mass (Da):66,654
Checksum:iFC7244F7B81672CC
GO
Isoform 3 (identifier: Q8NCE2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     479-538: Missing.
     539-590: Missing.

Show »
Length:538
Mass (Da):60,035
Checksum:i6EA5D5AC9EE34FB0
GO

Sequence cautioni

The sequence BAB15340 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28G → R in CAL38187 (PubMed:17974005).Curated1
Sequence conflicti55E → G in CAL37928 (PubMed:17974005).Curated1
Sequence conflicti126R → G in CAL38187 (PubMed:17974005).Curated1
Sequence conflicti390F → S in BAC11211 (PubMed:14702039).Curated1
Sequence conflicti403 – 406EEFS → ALFA in AAS50151 (Ref. 5) Curated4
Sequence conflicti554 – 557GSWQ → AAGM in AAS50151 (Ref. 5) Curated4
Sequence conflicti646S → N in CAL37928 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033370336R → Q in CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity. 1 PublicationCorresponds to variant rs121434509dbSNPEnsembl.1
Natural variantiVAR_033371462Y → C in CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity. 1 PublicationCorresponds to variant rs121434510dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021585479 – 538Missing in isoform 3. 3 PublicationsAdd BLAST60
Alternative sequenceiVSP_021586539 – 590Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ630520 mRNA. Translation: ABG02221.1.
AK026058 mRNA. Translation: BAB15340.1. Different initiation.
AK074792 mRNA. Translation: BAC11211.1.
AL713695 mRNA. Translation: CAD28494.1.
AM393309 mRNA. Translation: CAL38187.1.
AM393050 mRNA. Translation: CAL37928.1.
BC001674 mRNA. Translation: AAH01674.2.
BC025952 mRNA. Translation: AAH25952.2.
BC035690 mRNA. Translation: AAH35690.1.
BC050626 mRNA. Translation: AAH50626.1.
AY545552 mRNA. Translation: AAS50151.1.
CCDSiCCDS43043.1. [Q8NCE2-1]
CCDS43044.1. [Q8NCE2-2]
CCDS43045.1. [Q8NCE2-3]
RefSeqiNP_001070993.1. NM_001077525.2. [Q8NCE2-1]
NP_001070994.1. NM_001077526.2. [Q8NCE2-2]
NP_071930.2. NM_022485.4. [Q8NCE2-3]
UniGeneiHs.475382.

Genome annotation databases

EnsembliENST00000296003; ENSP00000296003; ENSG00000163719. [Q8NCE2-1]
ENST00000351233; ENSP00000334070; ENSG00000163719. [Q8NCE2-3]
ENST00000353332; ENSP00000323462; ENSG00000163719. [Q8NCE2-2]
GeneIDi64419.
KEGGihsa:64419.
UCSCiuc003brz.4. human. [Q8NCE2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ630520 mRNA. Translation: ABG02221.1.
AK026058 mRNA. Translation: BAB15340.1. Different initiation.
AK074792 mRNA. Translation: BAC11211.1.
AL713695 mRNA. Translation: CAD28494.1.
AM393309 mRNA. Translation: CAL38187.1.
AM393050 mRNA. Translation: CAL37928.1.
BC001674 mRNA. Translation: AAH01674.2.
BC025952 mRNA. Translation: AAH25952.2.
BC035690 mRNA. Translation: AAH35690.1.
BC050626 mRNA. Translation: AAH50626.1.
AY545552 mRNA. Translation: AAS50151.1.
CCDSiCCDS43043.1. [Q8NCE2-1]
CCDS43044.1. [Q8NCE2-2]
CCDS43045.1. [Q8NCE2-3]
RefSeqiNP_001070993.1. NM_001077525.2. [Q8NCE2-1]
NP_001070994.1. NM_001077526.2. [Q8NCE2-2]
NP_071930.2. NM_022485.4. [Q8NCE2-3]
UniGeneiHs.475382.

3D structure databases

ProteinModelPortaliQ8NCE2.
SMRiQ8NCE2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122168. 8 interactors.
IntActiQ8NCE2. 7 interactors.
MINTiMINT-3042111.
STRINGi9606.ENSP00000296003.

PTM databases

DEPODiQ8NCE2.
iPTMnetiQ8NCE2.
PhosphoSitePlusiQ8NCE2.

Polymorphism and mutation databases

BioMutaiMTMR14.
DMDMi118568016.

Proteomic databases

EPDiQ8NCE2.
MaxQBiQ8NCE2.
PaxDbiQ8NCE2.
PeptideAtlasiQ8NCE2.
PRIDEiQ8NCE2.

Protocols and materials databases

DNASUi64419.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296003; ENSP00000296003; ENSG00000163719. [Q8NCE2-1]
ENST00000351233; ENSP00000334070; ENSG00000163719. [Q8NCE2-3]
ENST00000353332; ENSP00000323462; ENSG00000163719. [Q8NCE2-2]
GeneIDi64419.
KEGGihsa:64419.
UCSCiuc003brz.4. human. [Q8NCE2-1]

Organism-specific databases

CTDi64419.
DisGeNETi64419.
GeneCardsiMTMR14.
HGNCiHGNC:26190. MTMR14.
HPAiHPA054063.
MalaCardsiMTMR14.
MIMi160150. phenotype.
611089. gene.
neXtProtiNX_Q8NCE2.
OpenTargetsiENSG00000163719.
Orphaneti169189. Autosomal dominant centronuclear myopathy.
PharmGKBiPA162396265.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHSK. Eukaryota.
ENOG410XSF4. LUCA.
GeneTreeiENSGT00390000018852.
HOVERGENiHBG062969.
InParanoidiQ8NCE2.
KOiK18086.
OMAiDTHLFDK.
OrthoDBiEOG091G03F3.
PhylomeDBiQ8NCE2.
TreeFamiTF324044.

Enzyme and pathway databases

BioCyciMetaCyc:HS08920-MONOMER.
ZFISH:HS08920-MONOMER.
BRENDAi3.1.3.64. 2681.
ReactomeiR-HSA-1632852. Macroautophagy.
R-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Miscellaneous databases

ChiTaRSiMTMR14. human.
GeneWikiiMTMR14.
GenomeRNAii64419.
PROiQ8NCE2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163719.
ExpressionAtlasiQ8NCE2. baseline and differential.
GenevisibleiQ8NCE2. HS.

Family and domain databases

Gene3Di3.90.190.10. 2 hits.
InterProiIPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiMTMRE_HUMAN
AccessioniPrimary (citable) accession number: Q8NCE2
Secondary accession number(s): Q0JTH5
, Q0JU83, Q6PIZ4, Q6QE21, Q86VK9, Q8IYK1, Q8TCM7, Q9H6C0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: November 30, 2016
This is version 118 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.