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    RMDN1 regulator of microtubule dynamics 1 [ Homo sapiens (human) ]

    Gene ID: 51115, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RMDN1provided by HGNC
    Official Full Name
    regulator of microtubule dynamics 1provided by HGNC
    Primary source
    HGNC:HGNC:24285
    See related
    Ensembl:ENSG00000176623 MIM:611871; AllianceGenome:HGNC:24285
    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
    RMD1; RMD-1; CGI-90; FAM82B
    Summary
    Enables microtubule binding activity. Predicted to be involved in attachment of mitotic spindle microtubules to kinetochore and mitotic spindle organization. Located in mitotic spindle pole and spindle microtubule. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.5), fat (RPKM 10.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (86468266..86514357, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (87588507..87634595, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (87484578..87526586, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 7 member 13 Neighboring gene HNF4 motif-containing MPRA enhancer 29 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19341 Neighboring gene WWP1 antisense RNA 1 Neighboring gene WW domain containing E3 ubiquitin protein ligase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19343 Neighboring gene N-terminal asparagine amidase pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27598 Neighboring gene solute carrier family 2 member 3 pseudogene 4 Neighboring gene copine 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:87604292-87604850 Neighboring gene cyclic nucleotide gated channel subunit beta 3 Neighboring gene myo-inositol oxygenase pseudogene 1

    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. RMD-1, a novel microtubule-associated protein, functions in chromosome segregation in Caenorhabditis elegans. Oishi K, et al. J Cell Biol, 2007 Dec 17. PMID 18070910, Free PMC Article
    2. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. Alkhaja AK, et al. Mol Biol Cell, 2012 Jan. PMID 22114354, Free PMC Article
    3. Mass spectrometry analyses of normal and polyglutamine expanded ataxin-3 reveal novel interaction partners involved in mitochondrial function. Kristensen LV, et al. Neurochem Int, 2018 Jan. PMID 29111377
    4. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. Schaafhausen A, et al. Thromb Haemost, 2011 Feb. PMID 21103663
    5. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. Xie L, et al. PLoS Genet, 2012. PMID 23284306, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    • FLJ20665

    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 
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic spindle organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    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 1
    Names
    family with sequence similarity 82, member B
    microtubule-associated protein

    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_001286707.2 → NP_001273636.1  regulator of microtubule dynamics protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks and in-frame exon and uses and alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC103817, AK297896, BP234465, BX640636
      Consensus CDS
      CCDS69509.1
      UniProtKB/Swiss-Prot
      Q96DB5
      UniProtKB/TrEMBL
      Q6N086
      Related
      ENSP00000428661.1, ENST00000519966.5

    2. NM_001286719.2 → NP_001273648.1  regulator of microtubule dynamics protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001273648.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC103817, AK303122, BX640636
      Consensus CDS
      CCDS69510.1
      UniProtKB/Swiss-Prot
      Q96DB5
      UniProtKB/TrEMBL
      Q6N086
      Related
      ENSP00000409661.2, ENST00000430676.6
      Conserved Domains (1) summary
      sd00006
      Location:140 → 169
      TPR; TPR repeat [structural motif]

    3. NM_001317807.2 → NP_001304736.1  regulator of microtubule dynamics protein 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' and 3' UTRs, lacks a portion of the 5' coding region, uses a downstream translation start site, and uses two alternate splice sites in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC103817, AF151848, AL561197, BU932433, BX640636
      Consensus CDS
      CCDS83305.1
      UniProtKB/TrEMBL
      E5RH53, H0YB83
      Related
      ENSP00000429899.1, ENST00000523911.5
      Conserved Domains (1) summary
      sd00006
      Location:116 → 156
      TPR; TPR repeat [structural motif]

    4. NM_016033.3 → NP_057117.2  regulator of microtubule dynamics protein 1 isoform 1

      See identical proteins and their annotated locations for NP_057117.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC103817, AF151848, BP199284, BP234465
      Consensus CDS
      CCDS34918.1
      UniProtKB/Swiss-Prot
      A9UMZ8, B4DNF5, B4DZW6, B5MC61, C9JSC6, E7EVI2, Q96DB5, Q9Y398
      Related
      ENSP00000385927.3, ENST00000406452.8
      Conserved Domains (1) summary
      sd00006
      Location:164 → 199
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      86468266..86514357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421832.1 → XP_047277788.1  regulator of microtubule dynamics protein 1 isoform X12

    2. XM_047421839.1 → XP_047277795.1  regulator of microtubule dynamics protein 1 isoform X29

    3. XM_047421830.1 → XP_047277786.1  regulator of microtubule dynamics protein 1 isoform X9

    4. XM_047421837.1 → XP_047277793.1  regulator of microtubule dynamics protein 1 isoform X24

    5. XM_047421829.1 → XP_047277785.1  regulator of microtubule dynamics protein 1 isoform X7

    6. XM_047421834.1 → XP_047277790.1  regulator of microtubule dynamics protein 1 isoform X19

    7. XM_017013518.3 → XP_016869007.1  regulator of microtubule dynamics protein 1 isoform X5

      Conserved Domains (2) summary
      COG0457
      Location:56 → 289
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:164 → 199
      TPR; TPR repeat [structural motif]

    8. XM_047421828.1 → XP_047277784.1  regulator of microtubule dynamics protein 1 isoform X4

    9. XM_011517095.3 → XP_011515397.1  regulator of microtubule dynamics protein 1 isoform X16

      Conserved Domains (1) summary
      sd00006
      Location:178 → 213
      TPR; TPR repeat [structural motif]

    10. XM_011517090.4 → XP_011515392.1  regulator of microtubule dynamics protein 1 isoform X1

      Conserved Domains (2) summary
      COG0457
      Location:70 → 303
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:178 → 213
      TPR; TPR repeat [structural motif]

    11. XM_005250948.4 → XP_005251005.1  regulator of microtubule dynamics protein 1 isoform X11

      See identical proteins and their annotated locations for XP_005251005.1

      Conserved Domains (1) summary
      sd00006
      Location:120 → 155
      TPR; TPR repeat [structural motif]

    12. XM_047421831.1 → XP_047277787.1  regulator of microtubule dynamics protein 1 isoform X10

    13. XM_005250947.4 → XP_005251004.1  regulator of microtubule dynamics protein 1 isoform X8

      Conserved Domains (2) summary
      COG0457
      Location:82 → 256
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:140 → 169
      TPR; TPR repeat [structural motif]

    14. XM_005250944.4 → XP_005251001.1  regulator of microtubule dynamics protein 1 isoform X3

      Conserved Domains (2) summary
      COG0457
      Location:56 → 289
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:164 → 199
      TPR; TPR repeat [structural motif]

    15. XM_011517092.3 → XP_011515394.1  regulator of microtubule dynamics protein 1 isoform X6

      Conserved Domains (2) summary
      COG0457
      Location:96 → 270
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:154 → 183
      TPR; TPR repeat [structural motif]

    16. XM_011517091.3 → XP_011515393.1  regulator of microtubule dynamics protein 1 isoform X2

      Conserved Domains (2) summary
      sd00006
      Location:174 → 214
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:159 → 216
      TPR_11; TPR repeat

    17. XM_047421840.1 → XP_047277796.1  regulator of microtubule dynamics protein 1 isoform X30

    18. XM_047421838.1 → XP_047277794.1  regulator of microtubule dynamics protein 1 isoform X27

    19. XM_047421835.1 → XP_047277791.1  regulator of microtubule dynamics protein 1 isoform X22

    20. XM_017013521.1 → XP_016869010.1  regulator of microtubule dynamics protein 1 isoform X20

    21. XM_017013520.1 → XP_016869009.1  regulator of microtubule dynamics protein 1 isoform X18

    22. XM_011517098.3 → XP_011515400.1  regulator of microtubule dynamics protein 1 isoform X26

    23. XM_047421836.1 → XP_047277792.1  regulator of microtubule dynamics protein 1 isoform X23

    24. XM_011517097.3 → XP_011515399.1  regulator of microtubule dynamics protein 1 isoform X21

      Conserved Domains (1) summary
      sd00006
      Location:154 → 183
      TPR; TPR repeat [structural motif]

    25. XM_017013519.2 → XP_016869008.1  regulator of microtubule dynamics protein 1 isoform X17

    26. XM_011517096.3 → XP_011515398.1  regulator of microtubule dynamics protein 1 isoform X15

      Conserved Domains (1) summary
      sd00006
      Location:174 → 214
      TPR; TPR repeat [structural motif]

    27. XM_011517094.3 → XP_011515396.1  regulator of microtubule dynamics protein 1 isoform X14

      Conserved Domains (1) summary
      sd00006
      Location:178 → 213
      TPR; TPR repeat [structural motif]

    28. XM_011517093.3 → XP_011515395.1  regulator of microtubule dynamics protein 1 isoform X13

      Conserved Domains (1) summary
      sd00006
      Location:178 → 213
      TPR; TPR repeat [structural motif]

    29. XM_047421842.1 → XP_047277798.1  regulator of microtubule dynamics protein 1 isoform X32

    30. XM_017013523.2 → XP_016869012.1  regulator of microtubule dynamics protein 1 isoform X28

    31. XM_047421841.1 → XP_047277797.1  regulator of microtubule dynamics protein 1 isoform X31

    32. XM_017013522.2 → XP_016869011.1  regulator of microtubule dynamics protein 1 isoform X25

    RNA

    1. XR_007060734.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      87588507..87634595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360583.1 → XP_054216558.1  regulator of microtubule dynamics protein 1 isoform X4

    2. XM_054360595.1 → XP_054216570.1  regulator of microtubule dynamics protein 1 isoform X16

    3. XM_054360580.1 → XP_054216555.1  regulator of microtubule dynamics protein 1 isoform X1

    4. XM_054360591.1 → XP_054216566.1  regulator of microtubule dynamics protein 1 isoform X12

    5. XM_054360608.1 → XP_054216583.1  regulator of microtubule dynamics protein 1 isoform X29

    6. XM_054360588.1 → XP_054216563.1  regulator of microtubule dynamics protein 1 isoform X9

    7. XM_054360603.1 → XP_054216578.1  regulator of microtubule dynamics protein 1 isoform X24

    8. XM_054360586.1 → XP_054216561.1  regulator of microtubule dynamics protein 1 isoform X7

    9. XM_054360598.1 → XP_054216573.1  regulator of microtubule dynamics protein 1 isoform X19

    10. XM_054360584.1 → XP_054216559.1  regulator of microtubule dynamics protein 1 isoform X5

    11. XM_054360590.1 → XP_054216565.1  regulator of microtubule dynamics protein 1 isoform X11

    12. XM_054360585.1 → XP_054216560.1  regulator of microtubule dynamics protein 1 isoform X6

    13. XM_054360581.1 → XP_054216556.1  regulator of microtubule dynamics protein 1 isoform X2

    14. XM_054360579.1 → XP_054216554.1  regulator of microtubule dynamics protein 1 isoform X33

    15. XM_054360589.1 → XP_054216564.1  regulator of microtubule dynamics protein 1 isoform X10

    16. XM_054360587.1 → XP_054216562.1  regulator of microtubule dynamics protein 1 isoform X8

    17. XM_054360582.1 → XP_054216557.1  regulator of microtubule dynamics protein 1 isoform X3

    18. XM_054360605.1 → XP_054216580.1  regulator of microtubule dynamics protein 1 isoform X26

    19. XM_054360602.1 → XP_054216577.1  regulator of microtubule dynamics protein 1 isoform X23

    20. XM_054360600.1 → XP_054216575.1  regulator of microtubule dynamics protein 1 isoform X21

    21. XM_054360596.1 → XP_054216571.1  regulator of microtubule dynamics protein 1 isoform X17

    22. XM_054360594.1 → XP_054216569.1  regulator of microtubule dynamics protein 1 isoform X15

    23. XM_054360593.1 → XP_054216568.1  regulator of microtubule dynamics protein 1 isoform X14

    24. XM_054360592.1 → XP_054216567.1  regulator of microtubule dynamics protein 1 isoform X13

    25. XM_054360609.1 → XP_054216584.1  regulator of microtubule dynamics protein 1 isoform X30

    26. XM_054360606.1 → XP_054216581.1  regulator of microtubule dynamics protein 1 isoform X27

    27. XM_054360601.1 → XP_054216576.1  regulator of microtubule dynamics protein 1 isoform X22

    28. XM_054360599.1 → XP_054216574.1  regulator of microtubule dynamics protein 1 isoform X20

    29. XM_054360597.1 → XP_054216572.1  regulator of microtubule dynamics protein 1 isoform X18

    30. XM_054360610.1 → XP_054216585.1  regulator of microtubule dynamics protein 1 isoform X31

    31. XM_054360604.1 → XP_054216579.1  regulator of microtubule dynamics protein 1 isoform X25

    32. XM_054360611.1 → XP_054216586.1  regulator of microtubule dynamics protein 1 isoform X32

    33. XM_054360607.1 → XP_054216582.1  regulator of microtubule dynamics protein 1 isoform X28

    RNA

    1. XR_008487849.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DB5.1 GenPept UniProtKB/Swiss-Prot:Q96DB5

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