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

Gene ID: 55177, updated on 3-Apr-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 cellular calcium ion homeostasis. Located in several cellular components, including intercellular bridge; mitochondrial outer membrane; and spindle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in small intestine (RPKM 16.9), lung (RPKM 14.6) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40735887..40755254, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38541582..38561277, complement)
105.20220307 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. Phospholipid transfer function of PTPIP51 at mitochondria-associated ER membranes. Yeo HK, et al. EMBO Rep, 2021 Jun 4. PMID 33938112, Free PMC Article
  2. ER-mitochondria signaling regulates autophagy. Gomez-Suaga P, et al. Autophagy, 2017 Jul 3. PMID 28548902, Free PMC Article
  3. 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
  4. The known interactome of PTPIP51 in HaCaT cells—inhibition of kinases and receptors. Brobeil A, et al. Int J Biochem Cell Biol, 2014 Jan. PMID 24501773
  5. PTPIP51 in protein interactions: regulation and in situ interacting partners. Brobeil A, et al. Cell Biochem Biophys, 2012 Jul. PMID 22544307

See all (81) 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)

Genotypes

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 intercellular bridge IDA
Inferred from Direct Assay
more info
  
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 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 
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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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_2023_10

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

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