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    RMDN3 regulator of microtubule dynamics 3 [ Homo sapiens (human) ]

    Gene ID: 55177, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RMDN3provided by HGNC
    Official Full Name
    regulator of microtubule dynamics 3provided by HGNC
    Primary source
    HGNC:HGNC:25550
    See related
    Ensembl:ENSG00000137824 MIM:611873; AllianceGenome:HGNC:25550
    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
    RMD3; RMD-3; FAM82C; FAM82A2; ptpip51
    Summary
    Enables microtubule binding activity. Involved in intracellular calcium ion homeostasis. Located in several cellular components, including intercellular bridge; mitochondrial outer membrane; and spindle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 16.9), lung (RPKM 14.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RMDN3 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40735887..40755254, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38541582..38561277, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41028085..41047452, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene kinetochore scaffold 1 Neighboring gene RNA, 7SL, cytoplasmic 376, pseudogene Neighboring gene MPRA-validated peak2302 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40986424-40987021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40987619-40988216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40988217-40988813 Neighboring gene RAD51 antisense RNA 1 Neighboring gene RAD51 recombinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41032727-41033599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6340 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:41046843-41047057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9261 Neighboring gene uncharacterized LOC124903474 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41055946-41056811 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41057589-41058378 Neighboring gene SUMO2 pseudogene 15 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene GTP cyclohydrolase I feedback regulator

    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. Differentiation-dependent PTPIP51 expression in human skeletal muscle cell culture. Barop J, et al. J Histochem Cytochem, 2009 May. PMID 19124842, Free PMC Article
    2. Protein tyrosine phosphatase interacting protein 51 (PTPIP51) is a novel mitochondria protein with an N-terminal mitochondrial targeting sequence and induces apoptosis. Lv BF, et al. Apoptosis, 2006 Sep. PMID 16820967
    3. Phospholipid transfer function of PTPIP51 at mitochondria-associated ER membranes. Yeo HK, et al. EMBO Rep, 2021 Jun 4. PMID 33938112, Free PMC Article
    4. ER-mitochondria signaling regulates autophagy. Gomez-Suaga P, et al. Autophagy, 2017 Jul 3. PMID 28548902, Free PMC Article
    5. Orchestrating cellular signaling pathways-the cellular "conductor" protein tyrosine phosphatase interacting protein 51 (PTPIP51). Brobeil A, et al. Cell Tissue Res, 2017 Jun. PMID 27734150

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca[2+] and synaptic defects.
      Title: Stimulating VAPB-PTPIP51 ER-mitochondria tethering corrects FTD/ALS mutant TDP43 linked Ca(2+) and synaptic defects.
    2. PTPIP51 inhibits non-small-cell lung cancer by promoting PTEN-mediated EGFR degradation.
      Title: PTPIP51 inhibits non-small-cell lung cancer by promoting PTEN-mediated EGFR degradation.
    3. Phospholipid transfer function of PTPIP51 at mitochondria-associated ER membranes.
      Title: Phospholipid transfer function of PTPIP51 at mitochondria-associated ER membranes.
    4. Disruption of endoplasmic reticulum-mitochondria tethering proteins in post-mortem Alzheimer's disease brain.
      Title: Disruption of endoplasmic reticulum-mitochondria tethering proteins in post-mortem Alzheimer's disease brain.
    5. Study shows that the VAPB-PTPIP51 tethers regulate autophagy and demonstrates that overexpression of VAPB or PTPIP51 to tighten endoplasmic reticulum-mitochondria contacts impairs, whereas small interfering RNA-mediated loss of VAPB or PTPIP51 to loosen contacts stimulates, autophagosome formation.
      Title: The ER-Mitochondria Tethering Complex VAPB-PTPIP51 Regulates Autophagy.
    6. the latest findings concerning PTPIP51 protein function, regulation and protein complex formation with regard to the involved signaling pathways and subcellular compartments (review)
      Title: Orchestrating cellular signaling pathways-the cellular "conductor" protein tyrosine phosphatase interacting protein 51 (PTPIP51).
    7. High PTPIP51 expression is associated with glioblastoma.
      Title: PTPIP51 levels in glioblastoma cells depend on inhibition of the EGF-receptor.
    8. PTPIP51 is regulated by its phosphorylation status combined with a thereby induced subcellular redistribution.
      Title: The known interactome of PTPIP51 in HaCaT cells—inhibition of kinases and receptors.
    9. The presented data confirms a tyrosine phosphorylation-dependent interaction of PTPIP51 with 14-3-3beta and Raf-1 in vivo and a tyrosine-dependent interaction profile with DAGKalpha and PKA.
      Title: PTPIP51 in protein interactions: regulation and in situ interacting partners.
    10. In glioblastoma PTPIP51 expression increases with the grade of malignancy and PTPIP51 interacts in situ with 14-3-3ss and PTP1B.
      Title: PTPIP51, a positive modulator of the MAPK/Erk pathway, is upregulated in glioblastoma and interacts with 14-3-3β and PTP1B in situ.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10579

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitotic spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in organelle membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in spindle microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    regulator of microtubule dynamics protein 3
    Names
    TCPTP-interacting protein 51
    cerebral protein 10
    family with sequence similarity 82, member A2
    family with sequence similarity 82, member C
    microtubule-associated protein
    protein tyrosine phosphatase-interacting protein 51

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001304802.2 → NP_001291731.1  regulator of microtubule dynamics protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001291731.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA772280, AK092058, DA280017
      Consensus CDS
      CCDS10063.1
      UniProtKB/Swiss-Prot
      A9UMZ9, B3KRR3, Q6ZWE9, Q96H23, Q96SD6, Q96TC7, Q9H6G1, Q9NVQ6
      UniProtKB/TrEMBL
      B3KUI4
      Conserved Domains (1) summary
      sd00006
      Location:362 → 412
      TPR; TPR repeat [structural motif]

    2. NM_001323894.2 → NP_001310823.1  regulator of microtubule dynamics protein 3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC012476
      Consensus CDS
      CCDS10063.1
      UniProtKB/Swiss-Prot
      A9UMZ9, B3KRR3, Q6ZWE9, Q96H23, Q96SD6, Q96TC7, Q9H6G1, Q9NVQ6
      UniProtKB/TrEMBL
      B3KUI4
      Conserved Domains (1) summary
      sd00006
      Location:362 → 412
      TPR; TPR repeat [structural motif]

    3. NM_001323895.2 → NP_001310824.1  regulator of microtubule dynamics protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012476
      UniProtKB/TrEMBL
      B3KUI4
      Conserved Domains (1) summary
      sd00006
      Location:233 → 283
      TPR; TPR repeat [structural motif]

    4. NM_001323896.2 → NP_001310825.1  regulator of microtubule dynamics protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012476
      UniProtKB/TrEMBL
      B3KUI4

    5. NM_001323897.2 → NP_001310826.1  regulator of microtubule dynamics protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012476
      UniProtKB/TrEMBL
      B3KUI4

    6. NM_018145.3 → NP_060615.1  regulator of microtubule dynamics protein 3 isoform 1

      See identical proteins and their annotated locations for NP_060615.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents transcript variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC063844, DA280017
      Consensus CDS
      CCDS10063.1
      UniProtKB/Swiss-Prot
      A9UMZ9, B3KRR3, Q6ZWE9, Q96H23, Q96SD6, Q96TC7, Q9H6G1, Q9NVQ6
      UniProtKB/TrEMBL
      B3KUI4
      Related
      ENSP00000342493.3, ENST00000338376.8
      Conserved Domains (1) summary
      sd00006
      Location:362 → 412
      TPR; TPR repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40735887..40755254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521755.3 → XP_011520057.1  regulator of microtubule dynamics protein 3 isoform X1

      UniProtKB/TrEMBL
      H0YMB1
      Related
      ENSP00000453535.1, ENST00000558232.5
      Conserved Domains (1) summary
      sd00006
      Location:156 → 206
      TPR; TPR repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38541582..38561277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378358.1 → XP_054234333.1  regulator of microtubule dynamics protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96TC7.2 GenPept UniProtKB/Swiss-Prot:Q96TC7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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