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

Gene ID: 64419, updated on 7-Aug-2022

Summary

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
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Genomic context

See MTMR14 in Genome Data Viewer
Location:
3p25.3
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (9649505..9702393)
110 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 uncharacterized LOC124909344 Neighboring gene copine family member 9 Neighboring gene bromodomain and PHD finger containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11546, FLJ22405, FLJ46453, FLJ90311

Gene Ontology Provided by GOA

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

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_001077525.3NP_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
    Q8NCE2, Q9H6C0
    Related
    ENSP00000296003.5, ENST00000296003.9
    Conserved Domains (1) summary
    cd13213
    Location:128244
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  2. NM_001077526.3NP_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:128244
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  3. NM_001400518.1NP_001387447.1  myotubularin-related protein 14 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  4. NM_001400519.1NP_001387448.1  myotubularin-related protein 14 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  5. NM_001400520.1NP_001387449.1  myotubularin-related protein 14 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  6. NM_001400521.1NP_001387450.1  myotubularin-related protein 14 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  7. NM_001400522.1NP_001387451.1  myotubularin-related protein 14 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  8. NM_001400523.1NP_001387452.1  myotubularin-related protein 14 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  9. NM_001400524.1NP_001387453.1  myotubularin-related protein 14 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  10. NM_001400525.1NP_001387454.1  myotubularin-related protein 14 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  11. NM_001400526.1NP_001387455.1  myotubularin-related protein 14 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  12. NM_001400527.1NP_001387456.1  myotubularin-related protein 14 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  13. NM_001400528.1NP_001387457.1  myotubularin-related protein 14 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  14. NM_001400529.1NP_001387458.1  myotubularin-related protein 14 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  15. NM_001400530.1NP_001387459.1  myotubularin-related protein 14 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  16. NM_001400531.1NP_001387460.1  myotubularin-related protein 14 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  17. NM_001400532.1NP_001387461.1  myotubularin-related protein 14 isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  18. NM_001400533.1NP_001387462.1  myotubularin-related protein 14 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  19. NM_001400534.1NP_001387463.1  myotubularin-related protein 14 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  20. NM_001400535.1NP_001387464.1  myotubularin-related protein 14 isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  21. NM_001400536.1NP_001387465.1  myotubularin-related protein 14 isoform 20

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  22. NM_001400537.1NP_001387466.1  myotubularin-related protein 14 isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  23. NM_001400538.1NP_001387467.1  myotubularin-related protein 14 isoform 22

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  24. NM_001400539.1NP_001387468.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  25. NM_001400540.1NP_001387469.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  26. NM_001400541.1NP_001387470.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  27. NM_001400542.1NP_001387471.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  28. NM_001400543.1NP_001387472.1  myotubularin-related protein 14 isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  29. NM_001400544.1NP_001387473.1  myotubularin-related protein 14 isoform 24

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  30. NM_001400545.1NP_001387474.1  myotubularin-related protein 14 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  31. NM_001400546.1NP_001387475.1  myotubularin-related protein 14 isoform 25

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  32. NM_001400547.1NP_001387476.1  myotubularin-related protein 14 isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  33. NM_001400548.1NP_001387477.1  myotubularin-related protein 14 isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  34. NM_001400549.1NP_001387478.1  myotubularin-related protein 14 isoform 27

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  35. NM_001400550.1NP_001387479.1  myotubularin-related protein 14 isoform 28

    Status: REVIEWED

    Source sequence(s)
    AC022382, AC024163
  36. NM_022485.5NP_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/Swiss-Prot
    Q8NCE2
    Related
    ENSP00000334070.7, ENST00000351233.9
    Conserved Domains (1) summary
    cd13213
    Location:128244
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017007041.2XP_016862530.1  myotubularin-related protein 14 isoform X1

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

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

    Conserved Domains (1) summary
    cd13213
    Location:7123
    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)