RAB33B RAB33B, member RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAB33Bprovided by HGNC
Official Full Name: RAB33B, member RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:16075
See related: Ensembl:ENSG00000172007 MIM:605950; AllianceGenome:HGNC:16075
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: SMC2
Summary: This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]
Expression: Ubiquitous expression in fat (RPKM 5.5), ovary (RPKM 5.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (139438376..139476609)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (142758027..142796260)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (140375275..140397763)

Chromosome 4 - NC_000004.12 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
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?

RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.
Title: RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Title: RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.
Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
Title: Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.
This review focus is on the current knowledge of the participation of Rab33b and its interacting partners in membrane trafficking and macroautophagy, and speculate on how its function, and dysfunction, may contribute to human disease.[review]
Title: Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b.
Rab33b, OATL1 and Myo6 have roles in nanoparticle trafficking in HeLa cells
Title: A systematic High-Content Screening microscopy approach reveals key roles for Rab33b, OATL1 and Myo6 in nanoparticle trafficking in HeLa cells.
Together, these results indicate that Rab33B is an important player in intracellular hepatitis B virus trafficking events, guiding core transport to nucleocapsid assembly sites and/or nucleocapsid transport to budding sites.
Title: Rab33B Controls Hepatitis B Virus Assembly by Regulating Core Membrane Association and Nucleocapsid Processing.
Here we present three SMC patients with four novel pathogenic variants in RAB33B, including homozygosity for c.211C>T (p.R71*), homozygosity for c.365T>C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs*58) and c.490C>T (p.Q164*).
Title: Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Arg-24 of Atg16L1 is crucial for its interaction with Atg5 which has implications in the binding of the dimeric complex to Rab33B
Title: Deciphering the role of Atg5 in nucleotide dependent interaction of Rab33B with the dimeric complex, Atg5-Atg16L1.
Analysis of hepatitis B virus capsid maturation steps revealed that Rab33B and Atg5/12/16L1 are required for proper particle assembly and/or stability.
Title: Rab33B and its autophagic Atg5/12/16L1 effector assist in hepatitis B virus naked capsid formation and release.
Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase.
Title: Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Smith-McCort dysplasia 2 MedGen: C3714896 OMIM: 615222 GeneReviews: Not available	Compare labs

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 GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rab protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intra-Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of constitutive secretory pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to Golgi apparatus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to Golgi apparatus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of retrograde vesicle-mediated transport, Golgi to ER	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi lumen	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras-related protein Rab-33B

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.

Genomic

NG_051587.1 RefSeqGene

Range

5890..28378

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_031296.3 → NP_112586.1 ras-related protein Rab-33B

See identical proteins and their annotated locations for NP_112586.1

Status: REVIEWED

Source sequence(s)

AC114743, AF350420, AL136904

Consensus CDS

CCDS3747.1

UniProtKB/Swiss-Prot

B2R987, Q4W5B0, Q9H082

UniProtKB/TrEMBL

Q5U602

Related

ENSP00000306496.5, ENST00000305626.6

Conserved Domains (1) summary

cd04115
Location:32 → 201

Rab33B_Rab33A; Rab GTPase family 33 includes Rab33A and Rab33B

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

139438376..139476609

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532299.2 → XP_011530601.1 ras-related protein Rab-33B isoform X1

UniProtKB/TrEMBL

A0A494C0Z5, Q5U602

Related

ENSP00000498778.1, ENST00000652268.1

Conserved Domains (2) summary

cd04115
Location:80 → 249

Rab33B_Rab33A; Rab GTPase family 33 includes Rab33A and Rab33B

smart00175
Location:82 → 248

RAB; Rab subfamily of small GTPases