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MTMR14 myotubularin related protein 14 [ Homo sapiens (human) ]

Gene ID: 64419, updated on 3-Apr-2024

Summary

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Official Symbol
MTMR14provided by HGNC
Official Full Name
myotubularin related protein 14provided by HGNC
Primary source
HGNC:HGNC:26190
See related
Ensembl:ENSG00000163719 MIM:611089; AllianceGenome:HGNC:26190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C3orf29
Summary
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
Expression
Ubiquitous expression in bone marrow (RPKM 18.3), lymph node (RPKM 17.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
3p25.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9649505..9702393)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (9641462..9694348)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9691189..9744077)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376949 Neighboring gene dual specificity phosphatase 5 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9690821-9691716 Neighboring gene uncharacterized LOC124909344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:9745156-9746066 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:9757470-9757599 Neighboring gene copine family member 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19405 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:9772855-9773414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:9773975-9774534 Neighboring gene bromodomain and PHD finger containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells. Li Z, et al. Gene, 2019 Apr 5. PMID 30586604
  2. Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. Vergne I, et al. EMBO J, 2009 Aug 5. PMID 19590496, Free PMC Article
  3. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Tosch V, et al. Hum Mol Genet, 2006 Nov 1. PMID 17008356
  4. Protein tyrosine phosphatases in the human genome. Alonso A, et al. Cell, 2004 Jun 11. PMID 15186772
  5. A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging. Kovács T, et al. Sci Rep, 2022 Dec 17. PMID 36528685, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging.
    Title: A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging.
  2. Results demonstrated that MTMR14 expression is overexpressed in liver cancer. A loss-of-function study showed that knockdown of MTMR14 promotes cell apoptosis and inhibits cell migration, and inhibits tumor migration in vivo in a liver cancer peritoneal implantation nude mouse model.
    Title: Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.
  3. This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy.
    Title: The role of MTMR14 in autophagy and in muscle disease.
  4. The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14).
    Title: Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found
    Title: A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
  7. C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy.
    Title: A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant centronuclear myopathy
MedGen: C4551952 OMIM: 160150 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11546, FLJ22405, FLJ46453, FLJ90311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS
Traceable Author Statement
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate phosphatase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine/threonine phosphatase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in dephosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in macroautophagy TAS
Traceable Author Statement
more info
  
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ruffle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
myotubularin-related protein 14
Names
NS5ATP4ABP1
egg-derived tyrosine phosphatase homolog
jumpy

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_017068.1 RefSeqGene

    Range
    5073..57961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077525.3 → NP_001070993.1  myotubularin-related protein 14 isoform 2

    See identical proteins and their annotated locations for NP_001070993.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform 2).
    Source sequence(s)
    BC035690, DC316206
    Consensus CDS
    CCDS43043.1
    UniProtKB/Swiss-Prot
    Q0JTH5, Q0JU83, Q6PIZ4, Q6QE21, Q86VK9, Q8IYK1, Q8NCE2, Q8TCM7, Q9H6C0
    Related
    ENSP00000296003.5, ENST00000296003.9
    Conserved Domains (1) summary
    cd13213
    Location:128 → 244
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  2. NM_001077526.3 → NP_001070994.1  myotubularin-related protein 14 isoform 1

    See identical proteins and their annotated locations for NP_001070994.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame segment in the 3' coding region, compared to variant 2. The resulting protein (isoform 1) has a shorter C-terminus when it is compared to isoform 2.
    Source sequence(s)
    AF289603, BF796406, DC316206, DQ630520
    Consensus CDS
    CCDS43044.1
    UniProtKB/Swiss-Prot
    Q8NCE2
    UniProtKB/TrEMBL
    Q8WYY9
    Related
    ENSP00000323462.8, ENST00000353332.9
    Conserved Domains (1) summary
    cd13213
    Location:128 → 244
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

  3. NM_001400518.1 → NP_001387447.1  myotubularin-related protein 14 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  4. NM_001400519.1 → NP_001387448.1  myotubularin-related protein 14 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  5. NM_001400520.1 → NP_001387449.1  myotubularin-related protein 14 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  6. NM_001400521.1 → NP_001387450.1  myotubularin-related protein 14 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  7. NM_001400522.1 → NP_001387451.1  myotubularin-related protein 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  8. NM_001400523.1 → NP_001387452.1  myotubularin-related protein 14 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  9. NM_001400524.1 → NP_001387453.1  myotubularin-related protein 14 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  10. NM_001400525.1 → NP_001387454.1  myotubularin-related protein 14 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  11. NM_001400526.1 → NP_001387455.1  myotubularin-related protein 14 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  12. NM_001400527.1 → NP_001387456.1  myotubularin-related protein 14 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  13. NM_001400528.1 → NP_001387457.1  myotubularin-related protein 14 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  14. NM_001400529.1 → NP_001387458.1  myotubularin-related protein 14 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  15. NM_001400530.1 → NP_001387459.1  myotubularin-related protein 14 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  16. NM_001400531.1 → NP_001387460.1  myotubularin-related protein 14 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  17. NM_001400532.1 → NP_001387461.1  myotubularin-related protein 14 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  18. NM_001400533.1 → NP_001387462.1  myotubularin-related protein 14 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  19. NM_001400534.1 → NP_001387463.1  myotubularin-related protein 14 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  20. NM_001400535.1 → NP_001387464.1  myotubularin-related protein 14 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  21. NM_001400536.1 → NP_001387465.1  myotubularin-related protein 14 isoform 20

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  22. NM_001400537.1 → NP_001387466.1  myotubularin-related protein 14 isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  23. NM_001400538.1 → NP_001387467.1  myotubularin-related protein 14 isoform 22

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  24. NM_001400539.1 → NP_001387468.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  25. NM_001400540.1 → NP_001387469.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  26. NM_001400541.1 → NP_001387470.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  27. NM_001400542.1 → NP_001387471.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  28. NM_001400543.1 → NP_001387472.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  29. NM_001400544.1 → NP_001387473.1  myotubularin-related protein 14 isoform 24

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  30. NM_001400545.1 → NP_001387474.1  myotubularin-related protein 14 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  31. NM_001400546.1 → NP_001387475.1  myotubularin-related protein 14 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  32. NM_001400547.1 → NP_001387476.1  myotubularin-related protein 14 isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  33. NM_001400548.1 → NP_001387477.1  myotubularin-related protein 14 isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  34. NM_001400549.1 → NP_001387478.1  myotubularin-related protein 14 isoform 27

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  35. NM_001400550.1 → NP_001387479.1  myotubularin-related protein 14 isoform 28

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  36. NM_022485.5 → NP_071930.2  myotubularin-related protein 14 isoform 3

    See identical proteins and their annotated locations for NP_071930.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame segments in the 3' coding region, compared to variant 2. The resulting protein (isoform 3) has a shorter C-terminus when it is compared to isoform 2.
    Source sequence(s)
    AL713695, BF796406, DC316206
    Consensus CDS
    CCDS43045.1
    UniProtKB/TrEMBL
    Q8WYY9
    Related
    ENSP00000334070.7, ENST00000351233.9
    Conserved Domains (1) summary
    cd13213
    Location:128 → 244
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

RNA

  1. NR_174503.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  2. NR_174504.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  3. NR_174505.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
    Related
    ENST00000447144.5

  4. NR_174506.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  5. NR_174507.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  6. NR_174508.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  7. NR_174509.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

  8. NR_174510.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
    Related
    ENST00000414996.1

  9. NR_174511.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    9649505..9702393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007041.2 → XP_016862530.1  myotubularin-related protein 14 isoform X1

  2. XM_047448719.1 → XP_047304675.1  myotubularin-related protein 14 isoform X3

  3. XM_011534013.2 → XP_011532315.1  myotubularin-related protein 14 isoform X2

    Conserved Domains (1) summary
    cd13213
    Location:7 → 123
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

RNA

  1. XR_007095717.1 RNA Sequence

  2. XR_007095718.1 RNA Sequence

  3. XR_007095719.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    9641462..9694348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347543.1 → XP_054203518.1  myotubularin-related protein 14 isoform X1

  2. XM_054347545.1 → XP_054203520.1  myotubularin-related protein 14 isoform X3

  3. XM_054347544.1 → XP_054203519.1  myotubularin-related protein 14 isoform X2

RNA

  1. XR_008486770.1 RNA Sequence

  2. XR_008486771.1 RNA Sequence

  3. XR_008486772.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NCE2.2 GenPept UniProtKB/Swiss-Prot:Q8NCE2

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