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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Localization, traffic and function of Rab34 in adipocyte lipid and endocrine functions.
Title: Localization, traffic and function of Rab34 in adipocyte lipid and endocrine functions.
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Title: Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Rab34 plays a critical role as a bidirectional regulator of osteoclastogenesis.
Title: Rab34 plays a critical role as a bidirectional regulator of osteoclastogenesis.
Rab34 GTPase mediates ciliary membrane formation in the intracellular ciliogenesis pathway.
Title: Rab34 GTPase mediates ciliary membrane formation in the intracellular ciliogenesis pathway.
A comprehensive analysis of Rab GTPases reveals a role for Rab34 in serum starvation-induced primary ciliogenesis.
Title: A comprehensive analysis of Rab GTPases reveals a role for Rab34 in serum starvation-induced primary ciliogenesis.
Authors demonstrate that endocytic recycling protein Rab34 localizes to cilia, and that its mutation results in significant decrease of ciliogenesis in both cultured cells and mice. Rab34 is required for the successive fusion of preciliary vesicles to generate ciliary vesicles and for the migration of the mother centriole from perinuclear region to plasma membrane.
Title: Rab34 small GTPase is required for Hedgehog signaling and an early step of ciliary vesicle formation in mouse.
Silencing Rab34 by shRNA inhibits cell migration, invasion, and adhesion of breast cancer cells.
Title: Rab34 regulates adhesion, migration, and invasion of breast cancer cells.
The present study demonstrated that RAB34 plays an important role in the initiation and progression of hepatocellular carcinoma (HCC). Our results suggest a new therapeutic target for the clinical treatment of HCC.
Title: Overexpression of RAB34 correlates with poor prognosis and tumor progression in hepatocellular carcinoma.
Rab34 activity is modulated by SopD2 and is required for maturation of the Salmonella containing vacuole.
Title: Salmonella effector SopD2 interferes with Rab34 function.
NARR is ubiquitously expressed and resides in nucleoli where it colocalizes with ribosomal DNA gene clusters.
Title: Identification and characterization of a novel ubiquitous nucleolar protein 'NARR' encoded by a gene overlapping the rab34 oncogene.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

Associated conditions

Description	Tests
Orofaciodigital syndrome 20 MedGen: CN376838 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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

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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)

NM_001142624.2 → NP_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:110 → 269

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
NM_001142625.2 → NP_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:111 → 249

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001144942.2 → NP_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:53 → 212

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
NM_001144943.1 → NP_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:110 → 277

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
NM_001256276.2 → NP_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:32 → 198

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
NM_001256277.2 → NP_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:53 → 220

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
NM_001256278.1 → NP_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:53 → 220

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
NM_001256281.3 → NP_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:11 → 183

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
NM_031934.6 → NP_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:53 → 220

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

28714281..28718428 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000391048.1, ENST00000450529.5
XM_024450984.2 → XP_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:53 → 220

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
XM_047436883.1 → XP_047292839.1 ras-related protein Rab-34 isoform X8
XM_047436879.1 → XP_047292835.1 ras-related protein Rab-34 isoform X5
XM_047436886.1 → XP_047292842.1 ras-related protein Rab-34 isoform X10
XM_047436884.1 → XP_047292840.1 ras-related protein Rab-34 isoform X9
XM_047436881.1 → XP_047292837.1 ras-related protein Rab-34 isoform X7

UniProtKB/Swiss-Prot

B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
XM_047436882.1 → XP_047292838.1 ras-related protein Rab-34 isoform X8
XM_047436877.1 → XP_047292833.1 ras-related protein Rab-34 isoform X5
XM_047436880.1 → XP_047292836.1 ras-related protein Rab-34 isoform X6
XM_047436876.1 → XP_047292832.1 ras-related protein Rab-34 isoform X4
XM_024450976.2 → XP_024306744.1 ras-related protein Rab-34 isoform X3

UniProtKB/TrEMBL

C9JY26

Conserved Domains (1) summary

cd04108
Location:89 → 255

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
XM_024450975.2 → XP_024306743.1 ras-related protein Rab-34 isoform X2

UniProtKB/TrEMBL

B4DNC0

Conserved Domains (1) summary

cd04108
Location:111 → 270

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
XM_024450973.2 → XP_024306741.1 ras-related protein Rab-34 isoform X1

UniProtKB/TrEMBL

B4DNC0

Conserved Domains (1) summary

cd04108
Location:111 → 278

Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
XM_047436878.1 → XP_047292834.1 ras-related protein Rab-34 isoform X5
XM_024450990.2 → XP_024306758.1 ras-related protein Rab-34 isoform X11

UniProtKB/TrEMBL

J3QLC6

Conserved Domains (1) summary

cl21455
Location:1 → 130

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

29657090..29661327 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
XM_054317486.1 → XP_054173461.1 ras-related protein Rab-34 isoform X10
XM_054317484.1 → XP_054173459.1 ras-related protein Rab-34 isoform X9
XM_054317482.1 → XP_054173457.1 ras-related protein Rab-34 isoform X8
XM_054317485.1 → XP_054173460.1 ras-related protein Rab-34 isoform X9
XM_054317481.1 → XP_054173456.1 ras-related protein Rab-34 isoform X7

UniProtKB/Swiss-Prot

B4E3A0, E9PEJ9, Q5BJE6, Q8NCJ8, Q96AR4, Q9BZG1
XM_054317483.1 → XP_054173458.1 ras-related protein Rab-34 isoform X8
XM_054317477.1 → XP_054173452.1 ras-related protein Rab-34 isoform X5
XM_054317479.1 → XP_054173454.1 ras-related protein Rab-34 isoform X6
XM_054317476.1 → XP_054173451.1 ras-related protein Rab-34 isoform X4
XM_054317475.1 → XP_054173450.1 ras-related protein Rab-34 isoform X3
XM_054317474.1 → XP_054173449.1 ras-related protein Rab-34 isoform X2
XM_054317473.1 → XP_054173448.1 ras-related protein Rab-34 isoform X1
XM_054317478.1 → XP_054173453.1 ras-related protein Rab-34 isoform X5
XM_054317487.1 → XP_054173462.1 ras-related protein Rab-34 isoform X11