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    RAB36 RAB36, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 9609, updated on 30-Oct-2024

    Summary

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    Official Symbol
    RAB36provided by HGNC
    Official Full Name
    RAB36, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9775
    See related
    Ensembl:ENSG00000100228 MIM:605662; AllianceGenome:HGNC:9775
    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
    Summary
    Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in thyroid (RPKM 6.1), kidney (RPKM 2.1) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB36 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23145324..23169280)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23568177..23592144)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23487511..23507850)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene radial spoke head 14 homolog Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23483471-23484363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13532 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:23491660-23492160 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:23492161-23492661 Neighboring gene RNA, 7SL, cytoplasmic 6, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23498179-23498784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23508841-23509342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18748 Neighboring gene Sharpr-MPRA regulatory region 7478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13533 Neighboring gene RAB36-BCR intergenic enhancer-blocking element 22-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23521616-23522426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13535 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23526972-23527478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23534525-23535026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23535027-23535526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23536731-23537231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23541159-23542100 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23543528-23543704 Neighboring gene BCR pseudogene 8 Neighboring gene BCR activator of RhoGEF and GTPase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23559755-23560544 Neighboring gene BCR-ABL minor-breakpoint cluster region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18750 Neighboring gene Sharpr-MPRA regulatory region 5876 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23564024-23564225 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:23571548-23572282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18751 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23584482-23585232 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23585233-23585984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23591289-23591814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23599428-23600084 Neighboring gene RNA, 7SL, cytoplasmic 263, pseudogene

    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 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. Cloning and characterization of a novel Rab-family gene, Rab36, within the region at 22q11.2 that is homozygously deleted in malignant rhabdoid tumors. Mori T, et al. Biochem Biophys Res Commun, 1999 Jan 27. PMID 9920784
    2. Inhibition of miR-1247 on cell proliferation and invasion in bladder cancer through its downstream target of RAB36. Zhu Y, et al. J Biosci, 2018 Jun. PMID 29872024
    3. Rab36 regulates the spatial distribution of late endosomes and lysosomes through a similar mechanism to Rab34. Chen L, et al. Mol Membr Biol, 2010 Jan. PMID 19961360
    4. Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. Zhou J, et al. Gene, 2000 Jan 4. PMID 10607907
    5. Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study. Arunachalam V, et al. Genome Med, 2024 Feb 12. PMID 38347632, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study.
      Title: Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study.
    2. these results provide the first clues regarding the role of miR-1247 might be a potential therapeutic agent and diagnostic marker of bladder cancer by inhibiting RAB36 expression.
      Title: Inhibition of miR-1247 on cell proliferation and invasion in bladder cancer through its downstream target of RAB36.
    3. These data show that RUTBC2 can act as a Rab36 GAP in cells and suggest that RUTBC2 links Rab9A function to Rab36 function in the endosomal system.
      Title: RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36.
    4. Rab36 may regulate the spatial distribution of late endosomes and lysosomes through a similar mechanism to Rab34.
      Title: Rab36 regulates the spatial distribution of late endosomes and lysosomes through a similar mechanism to Rab34.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-36
    Names
    small GTP-binding protein Rab36

    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_001349877.1 → NP_001336806.1  ras-related protein Rab-36 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB023061, AC000102, AF133588, BC017436, BC104991, BM681181, HY044604
      Conserved Domains (1) summary
      cd04108
      Location:148 → 313
      Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)

    2. NM_001349878.1 → NP_001336807.1  ras-related protein Rab-36 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region uses an alternate splice site in the 3' coding region, which results in a frameshift and a shorter 3' UTR, compared to variant 1. The encoded isoform (2) is shorter, lacks an internal segment and contains a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB023061, AC000102, AF133588, BC017436, BM681181, HY044604
      Conserved Domains (1) summary
      cl21455
      Location:124 → 266
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_004914.5 → NP_004905.3  ras-related protein Rab-36 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3) has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      AC000029, AC000102
      Consensus CDS
      CCDS13805.2
      UniProtKB/Swiss-Prot
      O95755, Q2M390, Q7Z4A9, Q9UHP5
      Related
      ENSP00000263116.3, ENST00000263116.8
      Conserved Domains (1) summary
      cd04108
      Location:58 → 223
      Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)

    RNA

    1. NR_146295.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB023061, AC000102, AF133588, BC017436, BM681181

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      23145324..23169280
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530545.3 → XP_011528847.1  ras-related protein Rab-36 isoform X4

      Conserved Domains (2) summary
      smart00175
      Location:149 → 308
      RAB; Rab subfamily of small GTPases
      cd04108
      Location:148 → 313
      Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)

    2. XM_011530546.3 → XP_011528848.1  ras-related protein Rab-36 isoform X5

      Conserved Domains (1) summary
      cl21455
      Location:148 → 290
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_006724381.5 → XP_006724444.1  ras-related protein Rab-36 isoform X1

      Conserved Domains (1) summary
      cl21455
      Location:148 → 290
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    4. XM_011530544.4 → XP_011528846.1  ras-related protein Rab-36 isoform X2

      Conserved Domains (2) summary
      PLN03118
      Location:149 → 349
      PLN03118; Rab family protein; Provisional
      cl21455
      Location:148 → 305
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_047441618.1 → XP_047297574.1  ras-related protein Rab-36 isoform X6

    6. XM_017029104.2 → XP_016884593.1  ras-related protein Rab-36 isoform X3

    7. XM_017029107.2 → XP_016884596.1  ras-related protein Rab-36 isoform X11

    8. XM_017029105.2 → XP_016884594.1  ras-related protein Rab-36 isoform X8

    9. XM_011530547.3 → XP_011528849.1  ras-related protein Rab-36 isoform X7

      Conserved Domains (1) summary
      cl21455
      Location:97 → 239
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    10. XM_047441622.1 → XP_047297578.1  ras-related protein Rab-36 isoform X13

    11. XM_047441619.1 → XP_047297575.1  ras-related protein Rab-36 isoform X9

    12. XM_047441620.1 → XP_047297576.1  ras-related protein Rab-36 isoform X10

    13. XM_047441623.1 → XP_047297579.1  ras-related protein Rab-36 isoform X14

    14. XM_011530550.3 → XP_011528852.1  ras-related protein Rab-36 isoform X12

      Conserved Domains (1) summary
      cl21455
      Location:148 → 229
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    15. XM_047441621.1 → XP_047297577.1  ras-related protein Rab-36 isoform X11

    16. XM_011530552.3 → XP_011528854.1  ras-related protein Rab-36 isoform X15

      Conserved Domains (1) summary
      cl21455
      Location:40 → 108
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      23568177..23592144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326162.1 → XP_054182137.1  ras-related protein Rab-36 isoform X4

    2. XM_054326163.1 → XP_054182138.1  ras-related protein Rab-36 isoform X5

    3. XM_054326159.1 → XP_054182134.1  ras-related protein Rab-36 isoform X1

    4. XM_054326160.1 → XP_054182135.1  ras-related protein Rab-36 isoform X2

    5. XM_054326164.1 → XP_054182139.1  ras-related protein Rab-36 isoform X6

    6. XM_054326161.1 → XP_054182136.1  ras-related protein Rab-36 isoform X3

    7. XM_054326169.1 → XP_054182144.1  ras-related protein Rab-36 isoform X11

    8. XM_054326166.1 → XP_054182141.1  ras-related protein Rab-36 isoform X8

    9. XM_054326165.1 → XP_054182140.1  ras-related protein Rab-36 isoform X7

    10. XM_054326171.1 → XP_054182146.1  ras-related protein Rab-36 isoform X13

    11. XM_054326167.1 → XP_054182142.1  ras-related protein Rab-36 isoform X9

    12. XM_054326168.1 → XP_054182143.1  ras-related protein Rab-36 isoform X10

    13. XM_054326172.1 → XP_054182147.1  ras-related protein Rab-36 isoform X14

    14. XM_054326170.1 → XP_054182145.1  ras-related protein Rab-36 isoform X12

    15. XM_054326173.1 → XP_054182148.1  ras-related protein Rab-36 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95755.3 GenPept UniProtKB/Swiss-Prot:O95755

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