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RAB34 RAB34, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 83871, updated on 10-Dec-2024

Summary

Official Symbol
RAB34provided by HGNC
Official Full Name
RAB34, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:16519
See related
Ensembl:ENSG00000109113 MIM:610917; AllianceGenome:HGNC:16519
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAH; NARR; OFD20; RAB39
Summary
This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in ovary (RPKM 30.9), endometrium (RPKM 28.1) and 23 other tissues See more
Orthologs
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Genomic context

See RAB34 in Genome Data Viewer
Location:
17q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28714281..28718428, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29657090..29661327, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27041299..27045286, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:26988611-26989810 Neighboring gene SPT6 homolog, histone chaperone and transcription elongation factor Neighboring gene Sharpr-MPRA regulatory region 10516 Neighboring gene protein interacting with cyclin A1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:27037571-27038346 and GRCh37_chr17:27038347-27039122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8349 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27045659-27046259 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27046260-27046861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11939 Neighboring gene small nucleolar RNA, C/D box 42B Neighboring gene ribosomal protein L23a Neighboring gene small nucleolar RNA, C/D box 4A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Orofaciodigital syndrome 20
MedGen: C5935578 OMIM: 620718 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Golgi to plasma membrane protein transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Golgi to plasma membrane protein transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytosolic ciliogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lysosome localization IDA
Inferred from Direct Assay
more info
PubMed 
NOT involved_in macropinocytosis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phagosome-lysosome fusion IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phagosome-lysosome fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Golgi cisterna IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi stack IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 
located_in cilium IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in phagocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
NOT located_in ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ras-related protein Rab-34
Names
nine amino-acid residue-repeats
ras-related protein Rab-39
ras-related protein Rah

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_001142624.2NP_001136096.2  ras-related protein Rab-34 isoform 2

    See identical proteins and their annotated locations for NP_001136096.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AK297850, BG251677, CB111417
    UniProtKB/TrEMBL
    B4DNC0
    Conserved Domains (1) summary
    cd04108
    Location:110269
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  2. NM_001142625.2NP_001136097.2  ras-related protein Rab-34 isoform 3

    See identical proteins and their annotated locations for NP_001136097.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and lacks an internal segment in the 3' coding region, compared to variant 1. The resulting isoform (3) has distinct N- and C-termini and is longer than isoform 1.
    Source sequence(s)
    AF327350, AK297850, BG251677, CB111417
    Consensus CDS
    CCDS54101.1
    UniProtKB/TrEMBL
    E7ES60
    Related
    ENSP00000413156.3, ENST00000453384.7
    Conserved Domains (1) summary
    cl38936
    Location:111249
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_001144942.2NP_001138414.1  ras-related protein Rab-34 isoform 4

    See identical proteins and their annotated locations for NP_001138414.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
    Source sequence(s)
    BC016841, BI523728
    Consensus CDS
    CCDS45636.1
    UniProtKB/TrEMBL
    Q6NXT3
    Conserved Domains (1) summary
    cd04108
    Location:53212
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  4. NM_001144943.1NP_001138415.1  ras-related protein Rab-34 isoform 5

    See identical proteins and their annotated locations for NP_001138415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (5) is longer at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK297850, BG251677, CB111417, CX788239
    UniProtKB/TrEMBL
    B4DNC0
    Conserved Domains (1) summary
    cd04108
    Location:110277
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  5. NM_001256276.2NP_001243205.1  ras-related protein Rab-34 isoform 6

    See identical proteins and their annotated locations for NP_001243205.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (6) that is shorter than isoform 1.
    Source sequence(s)
    AF327350, AK304633, CB127976
    Consensus CDS
    CCDS58536.1
    UniProtKB/TrEMBL
    Q6NXT3
    Related
    ENSP00000410279.2, ENST00000415040.6
    Conserved Domains (1) summary
    cd04108
    Location:32198
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  6. NM_001256277.2NP_001243206.1  ras-related protein Rab-34 isoform 1

    See identical proteins and their annotated locations for NP_001243206.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Both variants 1 and 6 encode the same isoform (1).
    Source sequence(s)
    AK027312, BG251677
    Consensus CDS
    CCDS11240.1
    UniProtKB/Swiss-Prot
    B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
    UniProtKB/TrEMBL
    Q6NXT3
    Related
    ENSP00000301043.6, ENST00000301043.10
    Conserved Domains (1) summary
    cd04108
    Location:53220
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  7. NM_001256278.1NP_001243207.1  ras-related protein Rab-34 isoform 7

    See identical proteins and their annotated locations for NP_001243207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (7) has a distinct N-terminus but is overall the same length as isoform 1.
    Source sequence(s)
    AK027312, BG251677, BG749591, CB111417
    UniProtKB/TrEMBL
    C9JY26
    Related
    ENSP00000407953.2, ENST00000430132.6
    Conserved Domains (1) summary
    cd04108
    Location:53220
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  8. NM_001256281.3NP_001243210.1  ras-related protein Rab-34 isoform NARR

    See identical proteins and their annotated locations for NP_001243210.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate splice site in its coding region, compared to variant 1. Its coding region is in a completely different frame, resulting in a novel isoform (NARR), compared to isoform 1.
    Source sequence(s)
    AC010761, BG251677
    Consensus CDS
    CCDS82096.1
    UniProtKB/Swiss-Prot
    P0DI83
    UniProtKB/TrEMBL
    A0A1C7CYW6
    Related
    ENSP00000490450.1, ENST00000636154.2
    Conserved Domains (1) summary
    cl26386
    Location:11183
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  9. NM_031934.6NP_114140.4  ras-related protein Rab-34 isoform 1

    See identical proteins and their annotated locations for NP_114140.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Both variants 1 and 6 encode isoform 1.
    Source sequence(s)
    AK074689, BC016841, BG251677, BI523728
    Consensus CDS
    CCDS11240.1
    UniProtKB/Swiss-Prot
    B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
    UniProtKB/TrEMBL
    Q6NXT3
    Related
    ENSP00000378666.3, ENST00000395245.9
    Conserved Domains (1) summary
    cd04108
    Location:53220
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28714281..28718428 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436885.1XP_047292841.1  ras-related protein Rab-34 isoform X9

    UniProtKB/TrEMBL
    Q6NXT3
    Related
    ENSP00000391048.1, ENST00000450529.5
  2. XM_024450984.2XP_024306752.1  ras-related protein Rab-34 isoform X7

    UniProtKB/Swiss-Prot
    B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
    UniProtKB/TrEMBL
    Q6NXT3
    Related
    ENSP00000398706.1, ENST00000412625.5
    Conserved Domains (1) summary
    cd04108
    Location:53220
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  3. XM_047436883.1XP_047292839.1  ras-related protein Rab-34 isoform X8

    UniProtKB/TrEMBL
    Q6NXT3
  4. XM_047436879.1XP_047292835.1  ras-related protein Rab-34 isoform X5

    UniProtKB/TrEMBL
    Q6NXT3
  5. XM_047436886.1XP_047292842.1  ras-related protein Rab-34 isoform X10

    UniProtKB/TrEMBL
    Q6NXT3
  6. XM_047436884.1XP_047292840.1  ras-related protein Rab-34 isoform X9

    UniProtKB/TrEMBL
    Q6NXT3
  7. XM_047436881.1XP_047292837.1  ras-related protein Rab-34 isoform X7

    UniProtKB/Swiss-Prot
    B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
    UniProtKB/TrEMBL
    Q6NXT3
  8. XM_047436882.1XP_047292838.1  ras-related protein Rab-34 isoform X8

    UniProtKB/TrEMBL
    Q6NXT3
  9. XM_047436877.1XP_047292833.1  ras-related protein Rab-34 isoform X5

    UniProtKB/TrEMBL
    Q6NXT3
  10. XM_047436880.1XP_047292836.1  ras-related protein Rab-34 isoform X6

    UniProtKB/TrEMBL
    C9JY26
  11. XM_047436876.1XP_047292832.1  ras-related protein Rab-34 isoform X4

    UniProtKB/TrEMBL
    B4DNC0
  12. XM_024450976.2XP_024306744.1  ras-related protein Rab-34 isoform X3

    UniProtKB/TrEMBL
    C9JY26
    Conserved Domains (1) summary
    cd04108
    Location:89255
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  13. XM_024450975.2XP_024306743.1  ras-related protein Rab-34 isoform X2

    UniProtKB/TrEMBL
    B4DNC0
    Conserved Domains (1) summary
    cd04108
    Location:111270
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  14. XM_024450973.2XP_024306741.1  ras-related protein Rab-34 isoform X1

    UniProtKB/TrEMBL
    B4DNC0
    Conserved Domains (1) summary
    cd04108
    Location:111278
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  15. XM_047436878.1XP_047292834.1  ras-related protein Rab-34 isoform X5

    UniProtKB/TrEMBL
    Q6NXT3
  16. XM_024450990.2XP_024306758.1  ras-related protein Rab-34 isoform X11

    UniProtKB/TrEMBL
    J3QLC6
    Conserved Domains (1) summary
    cl21455
    Location:1130
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29657090..29661327 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317480.1XP_054173455.1  ras-related protein Rab-34 isoform X7

    UniProtKB/Swiss-Prot
    B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
    UniProtKB/TrEMBL
    Q6NXT3
  2. XM_054317486.1XP_054173461.1  ras-related protein Rab-34 isoform X10

    UniProtKB/TrEMBL
    Q6NXT3
  3. XM_054317484.1XP_054173459.1  ras-related protein Rab-34 isoform X9

    UniProtKB/TrEMBL
    Q6NXT3
  4. XM_054317482.1XP_054173457.1  ras-related protein Rab-34 isoform X8

    UniProtKB/TrEMBL
    Q6NXT3
  5. XM_054317485.1XP_054173460.1  ras-related protein Rab-34 isoform X9

    UniProtKB/TrEMBL
    Q6NXT3
  6. XM_054317481.1XP_054173456.1  ras-related protein Rab-34 isoform X7

    UniProtKB/Swiss-Prot
    B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
    UniProtKB/TrEMBL
    Q6NXT3
  7. XM_054317483.1XP_054173458.1  ras-related protein Rab-34 isoform X8

    UniProtKB/TrEMBL
    Q6NXT3
  8. XM_054317477.1XP_054173452.1  ras-related protein Rab-34 isoform X5

    UniProtKB/TrEMBL
    Q6NXT3
  9. XM_054317479.1XP_054173454.1  ras-related protein Rab-34 isoform X6

    UniProtKB/TrEMBL
    C9JY26
  10. XM_054317476.1XP_054173451.1  ras-related protein Rab-34 isoform X4

    UniProtKB/TrEMBL
    B4DNC0
  11. XM_054317475.1XP_054173450.1  ras-related protein Rab-34 isoform X3

    UniProtKB/TrEMBL
    C9JY26
  12. XM_054317474.1XP_054173449.1  ras-related protein Rab-34 isoform X2

    UniProtKB/TrEMBL
    B4DNC0
  13. XM_054317473.1XP_054173448.1  ras-related protein Rab-34 isoform X1

    UniProtKB/TrEMBL
    B4DNC0
  14. XM_054317478.1XP_054173453.1  ras-related protein Rab-34 isoform X5

    UniProtKB/TrEMBL
    Q6NXT3
  15. XM_054317487.1XP_054173462.1  ras-related protein Rab-34 isoform X11

    UniProtKB/TrEMBL
    J3QLC6