MVB12B multivesicular body subunit 12B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MVB12Bprovided by HGNC
Official Full Name: multivesicular body subunit 12Bprovided by HGNC
Primary source: HGNC:HGNC:23368
See related: Ensembl:ENSG00000196814 AllianceGenome:HGNC:23368
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: C9orf28; FAM125B
Summary: The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression: Broad expression in brain (RPKM 8.1), lung (RPKM 5.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (126326829..126507040)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (138532595..138712489)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (129089108..129269319)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Study suggests a novel association between SNPs in FAM125B andintra-ocular pressure in the TwinsUK cohort.
Title: A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.
The 1.3-A atomic resolution crystal structure of the MVB12B MABP domain reveals a beta-prism fold, a hydrophobic membrane-anchoring loop, and an electropositive phosphoinositide-binding patch.
Title: Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit.
These results suggest that the expression of MVB12B may be normally suppressed through the ubiquitin-proteasome pathway that simultaneously regulates the fate of MVB12A and the functions of ESCRT-I.
Title: Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

EBI GWAS Catalog

Description
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
nucleocapsid	gag	GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101	PubMed
p6	gag	GST-fused NCp6 fragment binds ESCRT-I subunits such as MVB12B, VPS37B, VPS28, and TSG101	PubMed
	gag	ESCRT-I complexes contain three common subunits (TSG101, VPS28, and VPS37), and a fourth subunit MVB12. Recombinant ESCRT-I complexes bind HIV-1 p6	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S315 (e-PCR)
- UniSTS:153123

RH104304 (e-PCR)
- UniSTS:98629

WI-15136 (e-PCR)
- UniSTS:63834

IB578 (e-PCR)
- UniSTS:23449

D9S1798 (e-PCR), detects polymorphism
- UniSTS:71871

RH11731 (e-PCR)
- UniSTS:8131

1314 (e-PCR)
- UniSTS:25029

RH70084 (e-PCR)
- UniSTS:77522

SHGC-150833 (e-PCR)
- UniSTS:173542

STS-N68722 (e-PCR)
- UniSTS:67823

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IC Inferred by Curator more info	PubMed
involved_in viral budding	IBA Inferred from Biological aspect of Ancestor more info
involved_in viral budding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in virus maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in virus maturation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ESCRT I complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ESCRT I complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma 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: multivesicular body subunit 12B

Names: ESCRT-I complex subunit MVB12B; family with sequence similarity 125, member B

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_029787.2 RefSeqGene

Range

5002..185213

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001011703.3 → NP_001011703.1 multivesicular body subunit 12B isoform 2

See identical proteins and their annotated locations for NP_001011703.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC006443, BC000122, BC028675, BC041601, DA339911

Consensus CDS

CCDS48022.1

UniProtKB/TrEMBL

F8W922

Related

ENSP00000485994.1, ENST00000489637.3

Conserved Domains (1) summary

pfam10240
Location:48 → 220

DUF2464; Multivesicular body subunit 12
NM_033446.3 → NP_258257.1 multivesicular body subunit 12B isoform 1

See identical proteins and their annotated locations for NP_258257.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).

Source sequence(s)

AC006443

Consensus CDS

CCDS35142.1

UniProtKB/Swiss-Prot

Q8N6S7, Q9H7P6

UniProtKB/TrEMBL

B7Z1P9

Related

ENSP00000354772.3, ENST00000361171.8

Conserved Domains (1) summary

pfam10240
Location:48 → 299

DUF2464; Multivesicular body subunit 12