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MTMR11 myotubularin related protein 11 [ Homo sapiens (human) ]

Gene ID: 10903, updated on 5-Mar-2024

Summary

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Official Symbol
MTMR11provided by HGNC
Official Full Name
myotubularin related protein 11provided by HGNC
Primary source
HGNC:HGNC:24307
See related
Ensembl:ENSG00000014914 AllianceGenome:HGNC:24307
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRA
Summary
Predicted to enable phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum (RPKM 30.4), small intestine (RPKM 29.8) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
1q21.2
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (149928651..149936879, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149053134..149061363, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (149900543..149908772, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:149881729-149882230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:149882231-149882730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1666 Neighboring gene synaptic vesicle glycoprotein 2A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:149908038-149908562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1667 Neighboring gene splicing factor 3b subunit 4 Neighboring gene OTU deubiquitinase 7B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:149981420-149982302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1292 Neighboring gene uncharacterized LOC124904413 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:149989091-149989750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:149989751-149990408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1669 Neighboring gene ribosomal protein L6 pseudogene 31 Neighboring gene vacuolar protein sorting 45 homolog

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. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Wishart MJ, et al. Trends Cell Biol, 2002 Dec. PMID 12495846
  2. Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21. Fernandez-Navarro P, et al. Int J Cancer, 2015 May 15. PMID 25353672
  3. A novel common variant in DCST2 is associated with length in early life and height in adulthood. van der Valk RJ, et al. Hum Mol Genet, 2015 Feb 15. PMID 25281659, Free PMC Article
  4. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. Lorenzo O, et al. J Cell Sci, 2006 Jul 15. PMID 16787938
  5. Proteomic analysis of exosomes from human neural stem cells by flow field-flow fractionation and nanoflow liquid chromatography-tandem mass spectrometry. Kang D, et al. J Proteome Res, 2008 Aug. PMID 18570454

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
myotubularin-related protein 11
Names
cisplatin resistance associated
cisplatin resistance-associated protein
hCRA
inactive phosphatidylinositol 3-phosphatase 11

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.

mRNA and Protein(s)

  1. NM_001145862.2 → NP_001139334.1  myotubularin-related protein 11 isoform a

    See identical proteins and their annotated locations for NP_001139334.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK298775, BC064372, BC100819, DB474756
    Consensus CDS
    CCDS72902.1
    UniProtKB/Swiss-Prot
    A4FU01, B3KUE4, B4DJI6, B4DQF5, B4E3Q6, Q3ZCP7, Q5SZ62, Q6P2Q8, Q99752, Q99753
    Related
    ENSP00000391668.2, ENST00000439741.4
    Conserved Domains (3) summary
    pfam12578
    Location:551 → 678
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:46 → 160
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:201 → 466
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

  2. NM_181873.3 → NP_870988.2  myotubularin-related protein 11 isoform b

    See identical proteins and their annotated locations for NP_870988.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and contains alternate 5' and 3' coding regions, compared to variant 1. The resulting isoform (b) has distinct N- and C-termini and is shorter than isoform a.
    Source sequence(s)
    AK097000, AK296094, BC064372, DA492093
    Consensus CDS
    CCDS72901.1
    UniProtKB/Swiss-Prot
    A4FU01
    Related
    ENSP00000358136.3, ENST00000369140.7
    Conserved Domains (3) summary
    pfam12578
    Location:479 → 606
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:4 → 88
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:129 → 394
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    149928651..149936879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452578.2 → XP_024308346.1  myotubularin-related protein 11 isoform X1

    Conserved Domains (3) summary
    pfam12578
    Location:515 → 642
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:48 → 124
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:165 → 446
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

  2. XM_047441008.1 → XP_047296964.1  myotubularin-related protein 11 isoform X2

  3. XM_024452592.2 → XP_024308360.1  myotubularin-related protein 11 isoform X4

    Related
    ENST00000492824.5
    Conserved Domains (2) summary
    cd15790
    Location:46 → 160
    PH-GRAM_MTMR11; Myotubularian (MTM) related 11 protein (MTMR11) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl21483
    Location:201 → 378
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

  4. XM_006711137.2 → XP_006711200.1  myotubularin-related protein 11 isoform X2

    See identical proteins and their annotated locations for XP_006711200.1

    Conserved Domains (3) summary
    pfam12578
    Location:479 → 606
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:4 → 88
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:129 → 394
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

  5. XM_011509099.4 → XP_011507401.1  myotubularin-related protein 11 isoform X3

    Conserved Domains (2) summary
    cd15790
    Location:46 → 160
    PH-GRAM_MTMR11; Myotubularian (MTM) related 11 protein (MTMR11) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl21483
    Location:201 → 364
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...

RNA

  1. XR_007067794.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    149053134..149061363 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333947.1 → XP_054189922.1  myotubularin-related protein 11 isoform X1

  2. XM_054333948.1 → XP_054189923.1  myotubularin-related protein 11 isoform X2

  3. XM_054333950.1 → XP_054189925.1  myotubularin-related protein 11 isoform X4

  4. XM_054333949.1 → XP_054189924.1  myotubularin-related protein 11 isoform X3

RNA

  1. XR_008485880.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_006697.1: Suppressed sequence

    Description
    NM_006697.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4FU01.2 GenPept UniProtKB/Swiss-Prot:A4FU01

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