MTUS1

protein-coding

microtubule associated scaffold protein 1, the group of MicroRNA protein coding host genes

Gene summary

This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001363059.2

Inheritance

—

ClinVar variants

U:111B:18

Top phenotype

Normal pregnancy

gnomAD constraint

pLI —, LoF o/e 0.5

Max pathogenic AF

—

Genomic locus

chr8:17,643,795-17,801,094

External References & Databases

Ensembl (ENSG00000129422)

Transcript & Mutation Effects

hg38 • Region Span ~157.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MTUS1 variants in ClinVar

7 Conditions Cataloged

not specifiedTotal: 106

not providedTotal: 9

Normal pregnancyTotal: 3

Small for gestational ageTotal: 1

PreeclampsiaTotal: 1

Large for gestational ageTotal: 1

Gestational diabetes mellitus uncontrolledTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001363059.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	1 clinvar	1 clinvar	6
missense			101 clinvar	12 clinvar	4 clinvar	117
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	111	13	5	129

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 60 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001363059.2	RefSeq	NP_001349988.1	14	MANE Select
ENST00000693296.1	Ensembl	ENSP00000509719.1	14	MANE Select
NM_001001924.3	RefSeq	NP_001001924.1	14	Standard
NM_001001925.3	RefSeq	NP_001001925.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of macrophage chemotaxis

Molecular Function

microtubule binding

Cellular Component

extracellular space
nucleus
nucleolus
cytoplasm
mitochondrion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262102
Coding exons: 14
Length: 157123
Individuals with no LoFs: 124710
Homozygous LoFs: 0
Heterozygous LoFs: 84
Defined: 124794
p: 0.000337

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-5.93	1063	640	1.66	0.0000328	8305
Missense (PolyPhen)		256	161.06	1.5895		2322
Synonymous	-3.71	325	250	1.30	0.0000140	2391
Loss of Function	3.33	26	51.9	0.501	0.00000259	712

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.000088	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0027	0.0026	notable
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00020	0.00020	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth. {ECO:0000269|PubMed:12692079, ECO:0000269|PubMed:19794912}.;
Disease: DISEASE: Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. {ECO:0000269|PubMed:16650523}. Note=The gene represented in this entry may be involved in disease pathogenesis.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.832
RVIS EVS: 2.1
RVIS percentile EVS: 97.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.873

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium