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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
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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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