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

Gene ID: 83871, updated on 1-Aug-2020

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
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; 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

Genomic context

See RAB34 in Genome Data Viewer
Location:
17q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (28714281..28718440, complement)
105 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 SPT6 homolog, histone chaperone and transcription elongation factor Neighboring gene Sharpr-MPRA regulatory region 10516 Neighboring gene protein interacting with cyclin A1 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
Ral GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane protein transport IDA
Inferred from Direct Assay
more info
PubMed 
antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IDA
Inferred from Direct Assay
more info
PubMed 
NOT macropinocytosis IDA
Inferred from Direct Assay
more info
PubMed 
phagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagosome-lysosome fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagosome-lysosome fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
Golgi stack IDA
Inferred from Direct Assay
more info
PubMed 
cilium IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
NOT ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
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-34, isoform NARR
ras-related protein Rab-39
ras-related protein Rah

NCBI Reference Sequences (RefSeq)

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 (2) summary
    smart00175
    Location:111262
    RAB; Rab subfamily of small GTPases
    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
    B4DNC0, E7ES60, Q96PJ7
    Related
    ENSP00000413156.3, ENST00000453384.7
    Conserved Domains (1) summary
    cl21455
    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/Swiss-Prot
    Q9BZG1
    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 (2) summary
    smart00175
    Location:111270
    RAB; Rab subfamily of small GTPases
    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/Swiss-Prot
    Q9BZG1
    UniProtKB/TrEMBL
    Q96PJ7
    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
    Q9BZG1
    UniProtKB/TrEMBL
    A0A024QZ68
    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/Swiss-Prot
    Q9BZG1
    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
    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
    Q9BZG1
    UniProtKB/TrEMBL
    A0A024QZ68
    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: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    28714281..28718440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450984.1XP_024306752.1  ras-related protein Rab-34 isoform X12

    Related
    ENSP00000398706.1, ENST00000412625.5
    Conserved Domains (1) summary
    cd04108
    Location:53220
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  2. XM_024450982.1XP_024306750.1  ras-related protein Rab-34 isoform X11

    Conserved Domains (1) summary
    cd04108
    Location:53244
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  3. XM_024450979.1XP_024306747.1  ras-related protein Rab-34 isoform X10

    Conserved Domains (1) summary
    cd04108
    Location:54245
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  4. XM_024450976.1XP_024306744.1  ras-related protein Rab-34 isoform X8

    Conserved Domains (1) summary
    cd04108
    Location:89255
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  5. XM_024450972.1XP_024306740.1  ras-related protein Rab-34 isoform X5

    Conserved Domains (1) summary
    cd04108
    Location:110301
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  6. XM_024450975.1XP_024306743.1  ras-related protein Rab-34 isoform X7

    Conserved Domains (1) summary
    cd04108
    Location:111270
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  7. XM_024450973.1XP_024306741.1  ras-related protein Rab-34 isoform X6

    Conserved Domains (1) summary
    cd04108
    Location:111278
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  8. XM_024450971.1XP_024306739.1  ras-related protein Rab-34 isoform X4

    Conserved Domains (1) summary
    cd04108
    Location:111302
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  9. XM_024450992.1XP_024306760.1  ras-related protein Rab-34 isoform X17

    Conserved Domains (1) summary
    cl21455
    Location:1130
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  10. XM_024450989.1XP_024306757.1  ras-related protein Rab-34 isoform X16

    Conserved Domains (1) summary
    cl21455
    Location:1154
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  11. XM_024450986.1XP_024306754.1  ras-related protein Rab-34 isoform X14

    Related
    ENSP00000391048.1, ENST00000450529.5
    Conserved Domains (1) summary
    cd04108
    Location:53212
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  12. XM_024450980.1XP_024306748.1  ras-related protein Rab-34 isoform X11

    Conserved Domains (1) summary
    cd04108
    Location:53244
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  13. XM_024450985.1XP_024306753.1  ras-related protein Rab-34 isoform X13

    Conserved Domains (1) summary
    cd04108
    Location:54213
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  14. XM_024450978.1XP_024306746.1  ras-related protein Rab-34 isoform X9

    Conserved Domains (1) summary
    cd04108
    Location:54245
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  15. XM_024450983.1XP_024306751.1  ras-related protein Rab-34 isoform X12

    Related
    ENSP00000226259.6, ENST00000353676.9
    Conserved Domains (1) summary
    cd04108
    Location:53220
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  16. XM_024450981.1XP_024306749.1  ras-related protein Rab-34 isoform X11

    Conserved Domains (1) summary
    cd04108
    Location:53244
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  17. XM_024450977.1XP_024306745.1  ras-related protein Rab-34 isoform X9

    Conserved Domains (1) summary
    cd04108
    Location:54245
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  18. XM_024450991.1XP_024306759.1  ras-related protein Rab-34 isoform X17

    Conserved Domains (1) summary
    cl21455
    Location:1130
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  19. XM_024450970.1XP_024306738.1  ras-related protein Rab-34 isoform X3

    Conserved Domains (2) summary
    cl21455
    Location:255361
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl26386
    Location:3171
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  20. XM_024450968.1XP_024306736.1  ras-related protein Rab-34 isoform X1

    Conserved Domains (2) summary
    cl21455
    Location:255369
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl26386
    Location:3171
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  21. XM_024450987.1XP_024306755.1  ras-related protein Rab-34 isoform X15

    Conserved Domains (1) summary
    cd04108
    Location:32198
    Rab36_Rab34; Rab GTPase families 34 (Rab34) and 36 (Rab36)
  22. XM_024450990.1XP_024306758.1  ras-related protein Rab-34 isoform X17

    Conserved Domains (1) summary
    cl21455
    Location:1130
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  23. XM_024450969.1XP_024306737.1  ras-related protein Rab-34 isoform X2

    Conserved Domains (2) summary
    cl21455
    Location:254368
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    cl26386
    Location:38174
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  24. XM_024450993.1XP_024306761.1  ras-related protein Rab-34 isoform X18

    Conserved Domains (1) summary
    cl21455
    Location:1122
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  25. XM_024450988.1XP_024306756.1  ras-related protein Rab-34 isoform X16

    Conserved Domains (1) summary
    cl21455
    Location:1154
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_002958074.1 RNA Sequence

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