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

Gene ID: 10903, updated on 4-May-2020

Summary

Official Symbol
MTMR11provided by HGNC
Official Full Name
myotubularin related protein 11provided by HGNC
Primary source
HGNC:HGNC:24307
See related
Ensembl:ENSG00000014914
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
Expression
Broad expression in duodenum (RPKM 30.4), small intestine (RPKM 29.8) and 17 other tissues See more
Orthologs

Genomic context

See MTMR11 in Genome Data Viewer
Location:
1q21.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (149928651..149938329, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (149900543..149908791, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene synaptic vesicle glycoprotein 2A Neighboring gene splicing factor 3b subunit 4 Neighboring gene OTU deubiquitinase 7B Neighboring gene uncharacterized LOC105371427 Neighboring gene ribosomal protein L6 pseudogene Neighboring gene vacuolar protein sorting 45 homolog

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

mRNA and Protein(s)

  1. NM_001145862.2NP_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
    Related
    ENSP00000391668.2, ENST00000439741.4
    Conserved Domains (3) summary
    pfam12578
    Location:551678
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:46160
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:201466
    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_181873.3NP_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:479606
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:488
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:129394
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    149928651..149938329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452577.1XP_024308345.1  myotubularin-related protein 11 isoform X1

    Conserved Domains (3) summary
    pfam12578
    Location:523650
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:18132
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:173454
    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_024452578.1XP_024308346.1  myotubularin-related protein 11 isoform X2

    Conserved Domains (3) summary
    pfam12578
    Location:515642
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:48124
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:165446
    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 ...
  3. XM_011509099.3XP_011507401.1  myotubularin-related protein 11 isoform X4

    Related
    ENST00000492824.5
    Conserved Domains (2) summary
    cd15790
    Location:46160
    PH-GRAM_MTMR11; Myotubularian (MTM) related 11 protein (MTMR11) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl21483
    Location:201364
    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_006711137.1XP_006711200.1  myotubularin-related protein 11 isoform X3

    See identical proteins and their annotated locations for XP_006711200.1

    Conserved Domains (3) summary
    pfam12578
    Location:479606
    3-PAP; Myotubularin-associated protein
    cl17171
    Location:488
    PH-like; Pleckstrin homology-like domain
    cl21483
    Location:129394
    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_024452592.1XP_024308360.1  myotubularin-related protein 11 isoform X5

    Conserved Domains (2) summary
    cd15790
    Location:46160
    PH-GRAM_MTMR11; Myotubularian (MTM) related 11 protein (MTMR11) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl21483
    Location:201378
    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_002959067.1 RNA Sequence

  2. XR_002959062.1 RNA Sequence

    Related
    ENST00000482025.5
  3. XR_002959066.1 RNA Sequence

  4. XR_426760.4 RNA Sequence

  5. XR_002959043.1 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.
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