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

Gene ID: 64419, updated on 7-Jul-2019

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
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

Genomic context

See MTMR14 in Genome Data Viewer
Location:
3p25.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (9649465..9702393)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9691117..9744078)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376949 Neighboring gene dual specificity phosphatase 5 pseudogene 2 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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

Function Evidence Code Pubs
phosphatidylinositol-3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
macroautophagy TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
myotubularin-related protein 14
Names
HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
NS5ATP4ABP1
egg-derived tyrosine phosphatase homolog
jumpy

NCBI Reference Sequences (RefSeq)

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
    5001..57962
    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
    Related
    ENSP00000296003.4, ENST00000296003.8
    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_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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    9649465..9702393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007034.1XP_016862523.1  myotubularin-related protein 14 isoform X1

    Conserved Domains (1) summary
    cd13213
    Location:151267
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  2. XM_017007035.1XP_016862524.1  myotubularin-related protein 14 isoform X2

  3. XM_017007037.1XP_016862526.1  myotubularin-related protein 14 isoform X5

  4. XM_017007040.1XP_016862529.1  myotubularin-related protein 14 isoform X9

  5. XM_017007036.1XP_016862525.1  myotubularin-related protein 14 isoform X4

  6. XM_017007039.1XP_016862528.1  myotubularin-related protein 14 isoform X7

  7. XM_005265400.2XP_005265457.1  myotubularin-related protein 14 isoform X3

    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
  8. XM_017007038.2XP_016862527.1  myotubularin-related protein 14 isoform X6

  9. XM_017007042.2XP_016862531.1  myotubularin-related protein 14 isoform X12

  10. XM_017007045.2XP_016862534.1  myotubularin-related protein 14 isoform X17

  11. XM_017007044.2XP_016862533.1  myotubularin-related protein 14 isoform X16

  12. XM_024453710.1XP_024309478.1  myotubularin-related protein 14 isoform X15

    Conserved Domains (1) summary
    cl17171
    Location:130
    PH-like; Pleckstrin homology-like domain
  13. XM_011534012.1XP_011532314.1  myotubularin-related protein 14 isoform X8

    See identical proteins and their annotated locations for XP_011532314.1

    Conserved Domains (1) summary
    cd13213
    Location:34150
    PH-GRAM_MTMR14; Myotubularian (MTM) related 14 protein (MTMR14) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  14. XM_017007043.1XP_016862532.1  myotubularin-related protein 14 isoform X13

  15. XM_017007041.1XP_016862530.1  myotubularin-related protein 14 isoform X10

  16. XM_011534013.1XP_011532315.1  myotubularin-related protein 14 isoform X11

    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
  17. XM_024453709.1XP_024309477.1  myotubularin-related protein 14 isoform X14

    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_001740232.1 RNA Sequence

  2. XR_001740231.1 RNA Sequence

  3. XR_245152.2 RNA Sequence

  4. XR_001740233.2 RNA Sequence

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