MINAR1 membrane integral NOTCH2 associated receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MINAR1provided by HGNC
Official Full Name: membrane integral NOTCH2 associated receptor 1provided by HGNC
Primary source: HGNC:HGNC:29172
See related: Ensembl:ENSG00000169330 MIM:618054; AllianceGenome:HGNC:29172
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UBTOR; KIAA1024
Summary: Involved in several processes, including negative regulation of TOR signaling; negative regulation of angiogenesis; and negative regulation of protein ubiquitination. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in adrenal (RPKM 4.7), salivary gland (RPKM 0.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (79411400..79472304)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (77274741..77335653)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (79724678..79764646)

Chromosome 15 - NC_000015.10 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?

Novel functional variants in the Notch pathway and survival of Chinese colorectal cancer.
Title: Novel functional variants in the Notch pathway and survival of Chinese colorectal cancer.
MINAR1 physically interacts with Notch2 and its binding to Notch2 increases its stability and function. While MINAR1 is highly expressed in the normal human breast, its expression is significantly downregulated in advanced human breast cancer and its re-expression in breast cancer cells inhibited tumor growth.
Title: MINAR1 is a Notch2-binding protein that inhibits angiogenesis and breast cancer growth.
Ubtor inhibits mTOR signaling by stabilizing the mTOR complex component DEPTOR. Inhibiting Ubtor function promotes cell growth in neurons and cancer cells. Increasing Ubtor function reduces cancer cell growth.
Title: UBTOR/KIAA1024 regulates neurite outgrowth and neoplasia through mTOR signaling.

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

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: major intrinsically disordered Notch2-binding receptor 1

Names: major intrinsically disordered Notch2-associated receptor 1; ubiquitination and mTOR signaling protein

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_015206.3 → NP_056021.1 major intrinsically disordered Notch2-binding receptor 1

See identical proteins and their annotated locations for NP_056021.1

Status: VALIDATED

Source sequence(s)

AC105231

Consensus CDS

CCDS32306.1

UniProtKB/Swiss-Prot

A7MD43, Q9UPX6

UniProtKB/TrEMBL

H0YNN7

Related

ENSP00000307461.3, ENST00000305428.8

Conserved Domains (1) summary

pfam06789
Location:759 → 914

UPF0258; Uncharacterized protein family (UPF0258)

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

79411400..79472304

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022027.2 → XP_016877516.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1

UniProtKB/Swiss-Prot

A7MD43, Q9UPX6

UniProtKB/TrEMBL

H0YNN7

Conserved Domains (1) summary

pfam06789
Location:759 → 914

UPF0258; Uncharacterized protein family (UPF0258)
XM_011521392.2 → XP_011519694.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1

See identical proteins and their annotated locations for XP_011519694.1

UniProtKB/Swiss-Prot

A7MD43, Q9UPX6

UniProtKB/TrEMBL

H0YNN7

Conserved Domains (1) summary

pfam06789
Location:759 → 914

UPF0258; Uncharacterized protein family (UPF0258)
XM_011521395.3 → XP_011519697.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1

See identical proteins and their annotated locations for XP_011519697.1

UniProtKB/Swiss-Prot

A7MD43, Q9UPX6

UniProtKB/TrEMBL

H0YNN7

Conserved Domains (1) summary

pfam06789
Location:759 → 914

UPF0258; Uncharacterized protein family (UPF0258)
XM_011521396.3 → XP_011519698.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1

See identical proteins and their annotated locations for XP_011519698.1

UniProtKB/Swiss-Prot

A7MD43, Q9UPX6

UniProtKB/TrEMBL

H0YNN7

Conserved Domains (1) summary

pfam06789
Location:759 → 914

UPF0258; Uncharacterized protein family (UPF0258)
XM_011521393.4 → XP_011519695.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1

See identical proteins and their annotated locations for XP_011519695.1

UniProtKB/Swiss-Prot

A7MD43, Q9UPX6

UniProtKB/TrEMBL

H0YNN7

Conserved Domains (1) summary

pfam06789
Location:759 → 914

UPF0258; Uncharacterized protein family (UPF0258)

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

77274741..77335653

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377565.1 → XP_054233540.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1
XM_054377563.1 → XP_054233538.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1
XM_054377564.1 → XP_054233539.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1
XM_054377566.1 → XP_054233541.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1
XM_054377567.1 → XP_054233542.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1
XM_054377568.1 → XP_054233543.1 major intrinsically disordered Notch2-binding receptor 1 isoform X1