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

Gene ID: 9609, updated on 11-Apr-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 protein transport. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 6.1), kidney (RPKM 2.1) and 17 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23145324..23169280)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23568177..23592144)
105.20220307 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
  • 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. RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. Nottingham RM, et al. J Biol Chem, 2012 Jun 29. PMID 22637480, Free PMC Article

See all (16) 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
NP_001336806.1
NP_001336807.1
NP_004905.3
XP_006724444.1
XP_011528846.1
XP_011528847.1
XP_011528848.1
XP_011528849.1
XP_011528852.1
XP_011528854.1
XP_016884593.1
XP_016884594.1
XP_016884596.1
XP_047297574.1
XP_047297575.1
XP_047297576.1
XP_047297577.1
XP_047297578.1
XP_047297579.1
XP_054182134.1
XP_054182135.1
XP_054182136.1
XP_054182137.1
XP_054182138.1
XP_054182139.1
XP_054182140.1
XP_054182141.1
XP_054182142.1
XP_054182143.1
XP_054182144.1
XP_054182145.1
XP_054182146.1
XP_054182147.1
XP_054182148.1

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_2023_10

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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