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MTUS1 microtubule associated scaffold protein 1 [ Homo sapiens (human) ]

Gene ID: 57509, updated on 5-Mar-2024

Summary

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Official Symbol
MTUS1provided by HGNC
Official Full Name
microtubule associated scaffold protein 1provided by HGNC
Primary source
HGNC:HGNC:29789
See related
Ensembl:ENSG00000129422 MIM:609589; AllianceGenome:HGNC:29789
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
ATBP; ATIP; ICIS; MP44; ATIP3; MTSG1
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]
Expression
Ubiquitous expression in heart (RPKM 12.1), ovary (RPKM 11.4) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
8p22
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17643802..17801521, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17910954..18069106, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17501311..17659030, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 7 member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17394687-17395188 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17395189-17395688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18962 Neighboring gene Sharpr-MPRA regulatory region 10035 Neighboring gene uncharacterized LOC107986919 Neighboring gene platelet derived growth factor receptor like Neighboring gene uncharacterized LOC124901891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17516891-17517391 Neighboring gene Sharpr-MPRA regulatory region 10631 Neighboring gene Sharpr-MPRA regulatory region 14364 Neighboring gene microRNA 548v Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27047 Neighboring gene RNA, 5S ribosomal pseudogene 256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:17622301-17622802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:17622803-17623302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18963 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18965 Neighboring gene MTUS1 divergent transcript Neighboring gene uncharacterized LOC124901893 Neighboring gene fibrinogen like 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer. Cheng LY, et al. World J Surg Oncol, 2022 Aug 13. PMID 35962436, Free PMC Article
  2. In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function. Rozario LT, et al. PLoS One, 2021. PMID 34125870, Free PMC Article
  3. Microtubule-Associated Protein ATIP3, an Emerging Target for Personalized Medicine in Breast Cancer. Haykal MM, et al. Cells, 2021 May 1. PMID 34062782, Free PMC Article
  4. Improving breast cancer sensitivity to paclitaxel by increasing aneuploidy. Rodrigues-Ferreira S, et al. Proc Natl Acad Sci U S A, 2019 Nov 19. PMID 31685623, Free PMC Article
  5. DNA methylation regulates Microtubule-associated tumor suppressor 1 in human non-small cell lung carcinoma. Parbin S, et al. Exp Cell Res, 2019 Jan 15. PMID 30528566

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long Noncoding RNA MIR600HG Binds to MicroRNA-125a-5p to Prevent Pancreatic Cancer Progression Via Mitochondrial Tumor Suppressor 1-Dependent Suppression of Extracellular Regulated Protein Kinases Signaling Pathway.
    Title: Long Noncoding RNA MIR600HG Binds to MicroRNA-125a-5p to Prevent Pancreatic Cancer Progression Via Mitochondrial Tumor Suppressor 1-Dependent Suppression of Extracellular Regulated Protein Kinases Signaling Pathway.
  2. MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer.
    Title: MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer.
  3. In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function.
    Title: In silico analysis of deleterious SNPs of human MTUS1 gene and their impacts on subsequent protein structure and function.
  4. Microtubule-Associated Protein ATIP3, an Emerging Target for Personalized Medicine in Breast Cancer.
    Title: Microtubule-Associated Protein ATIP3, an Emerging Target for Personalized Medicine in Breast Cancer.
  5. RNA-binding protein SORBS2 suppresses clear cell renal cell carcinoma metastasis by enhancing MTUS1 mRNA stability.
    Title: RNA-binding protein SORBS2 suppresses clear cell renal cell carcinoma metastasis by enhancing MTUS1 mRNA stability.
  6. Reduced long non-coding RNA PTENP1 contributed to proliferation and invasion via miR-19b/MTUS1 axis in patients with cervical cancer.
    Title: Reduced long non-coding RNA PTENP1 contributed to proliferation and invasion via miR-19b/MTUS1 axis in patients with cervical cancer.
  7. Reciprocal regulation of Aurora kinase A and ATIP3 in the control of metaphase spindle length.
    Title: Reciprocal regulation of Aurora kinase A and ATIP3 in the control of metaphase spindle length.
  8. MicroRNA-765 targets MTUS1 to promote the progression of osteosarcoma via mediating ERK/EMT pathway.
    Title: MicroRNA-765 targets MTUS1 to promote the progression of osteosarcoma via mediating ERK/EMT pathway.
  9. MTUS1 may act as tumor suppressor and might be a potential biomarker for predicting prognosis in GBC.
    Title: Loss of MTUS1 Expression Is Associated With Poor Prognosis in Patients With Gallbladder Carcinoma.
  10. Low expression of MTUS1 correlates to DNA methylation and histone deacetylation in human NSCLC.
    Title: DNA methylation regulates Microtubule-associated tumor suppressor 1 in human non-small cell lung carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (39)

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14295, KIAA1288, DKFZp586D1519, DKFZp686F20243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in regulation of macrophage chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space HDA PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in spindle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
microtubule-associated tumor suppressor 1
Names
AT2 receptor-binding protein
AT2 receptor-interacting protein
AT2R binding protein
angiotensin-II type 2 receptor-interacting protein
erythroid differentiation-related
microtubule associated tumor suppressor 1
mitochondrial tumor suppressor gene 1
transcription factor MTSG1

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

  1. NG_023373.1 RefSeqGene

    Range
    4824..162116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001924.3 → NP_001001924.1  microtubule-associated tumor suppressor 1 isoform 1

    See identical proteins and their annotated locations for NP_001001924.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as ATIP3, encodes the longest isoform (1).
    Source sequence(s)
    AB033114, AF121259, AK310871, AL096842, BC142971, DA339588, DB221458
    Consensus CDS
    CCDS43717.1
    UniProtKB/Swiss-Prot
    A8K135, B2RBJ6, B3KWJ9, B4DH03, B9EGA1, D3DSP8, Q63HJ6, Q659F4, Q6PK49, Q6URW7, Q8N4M6, Q8WTT9, Q9H7T2, Q9ULD2
    Related
    ENSP00000262102.6, ENST00000262102.10
    Conserved Domains (1) summary
    cl25732
    Location:919 → 1215
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001001925.3 → NP_001001925.1  microtubule-associated tumor suppressor 1 isoform 2

    See identical proteins and their annotated locations for NP_001001925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform 2 which lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AB033114, AF121259, AK310871, AL096842, BC142971, DA339588, DB221458
    Consensus CDS
    CCDS43716.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000371293.3, ENST00000381869.5
    Conserved Domains (1) summary
    cl25732
    Location:865 → 1161
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_001001931.3 → NP_001001931.1  microtubule-associated tumor suppressor 1 isoform 4

    See identical proteins and their annotated locations for NP_001001931.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also known as ATIP4, lacks several 5' exons but has an alternate 5' exon, compared to variant 1. It encodes isoform 4 which has a much shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB033114, AF121259, AK125188, AL096842, BC142971
    Consensus CDS
    CCDS43718.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000371285.3, ENST00000381861.7
    Conserved Domains (3) summary
    cd00187
    Location:254 → 364
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
    pfam09755
    Location:194 → 457
    DUF2046; Uncharacterized conserved protein H4 (DUF2046)
    cl21588
    Location:332 → 481
    Snf7; Snf7

  4. NM_001166393.2 → NP_001159865.1  microtubule-associated tumor suppressor 1 isoform 6

    See identical proteins and their annotated locations for NP_001159865.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), also known as ATIP2, lacks several 5' exons but has an alternate 5' exon, compared to variant 1. It encodes isoform 6 which has a much shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC124069, AF121259, AK294860, AL096842, BC136320, DA113649
    Consensus CDS
    CCDS55204.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000445738.1, ENST00000544260.3
    Conserved Domains (2) summary
    cd00187
    Location:152 → 262
    TOP4c; DNA Topoisomerase, subtype IIA; domain A'; bacterial DNA topoisomerase IV (C subunit, ParC), bacterial DNA gyrases (A subunit, GyrA),mammalian DNA toposiomerases II. DNA topoisomerases are essential enzymes that regulate the conformational changes in DNA ...
    cl19219
    Location:225 → 301
    DUF342; Protein of unknown function (DUF342)

  5. NM_001330470.2 → NP_001317399.1  microtubule-associated tumor suppressor 1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. The encoded isoform (7) is shorter than and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC124069, AL096842, BC136320, BG719490, CV571752, DA743734
    Consensus CDS
    CCDS83254.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000489288.1, ENST00000634613.1

  6. NM_001363057.2 → NP_001349986.1  microtubule-associated tumor suppressor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AB033114, AC124069, AF121259, AK310871, AL096842, AW984317, BC142971, DA214747
    Conserved Domains (1) summary
    cl25732
    Location:919 → 1193
    SMC_N; RecF/RecN/SMC N terminal domain

  7. NM_001363058.2 → NP_001349987.1  microtubule-associated tumor suppressor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB033114, AC027117, AF121259, AK310871, AL096842, BC142971, DA214747, DA339588, DB221458
    Consensus CDS
    CCDS43717.1
    UniProtKB/Swiss-Prot
    A8K135, B2RBJ6, B3KWJ9, B4DH03, B9EGA1, D3DSP8, Q63HJ6, Q659F4, Q6PK49, Q6URW7, Q8N4M6, Q8WTT9, Q9H7T2, Q9ULD2
    Conserved Domains (1) summary
    cl25732
    Location:919 → 1215
    SMC_N; RecF/RecN/SMC N terminal domain

  8. NM_001363059.2 → NP_001349988.1  microtubule-associated tumor suppressor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB033114, AF121259, AK310871, AL096842, BC142971, DA214747, DA339588, DB221458
    Consensus CDS
    CCDS43717.1
    UniProtKB/Swiss-Prot
    A8K135, B2RBJ6, B3KWJ9, B4DH03, B9EGA1, D3DSP8, Q63HJ6, Q659F4, Q6PK49, Q6URW7, Q8N4M6, Q8WTT9, Q9H7T2, Q9ULD2
    Related
    ENSP00000509719.1, ENST00000693296.1
    Conserved Domains (1) summary
    cl25732
    Location:919 → 1215
    SMC_N; RecF/RecN/SMC N terminal domain

  9. NM_001363060.2 → NP_001349989.1  microtubule-associated tumor suppressor 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC027117, AC124069, AF121259
    Conserved Domains (1) summary
    cl25732
    Location:865 → 1139
    SMC_N; RecF/RecN/SMC N terminal domain

  10. NM_001363061.2 → NP_001349990.1  microtubule-associated tumor suppressor 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AB033114, AC027117, AF121259, AK310871, AL096842, BC142971, DA339588, DB221458
    Consensus CDS
    CCDS43717.1
    UniProtKB/Swiss-Prot
    A8K135, B2RBJ6, B3KWJ9, B4DH03, B9EGA1, D3DSP8, Q63HJ6, Q659F4, Q6PK49, Q6URW7, Q8N4M6, Q8WTT9, Q9H7T2, Q9ULD2
    Conserved Domains (1) summary
    cl25732
    Location:919 → 1215
    SMC_N; RecF/RecN/SMC N terminal domain

  11. NM_001363062.2 → NP_001349991.1  microtubule-associated tumor suppressor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB033114, AF121259, AK310871, AL096842, BC142971, DA214747
    Consensus CDS
    CCDS43716.1
    Related
    ENSP00000430167.1, ENST00000519263.5
    Conserved Domains (1) summary
    cl25732
    Location:865 → 1161
    SMC_N; RecF/RecN/SMC N terminal domain

  12. NM_020749.5 → NP_065800.1  microtubule-associated tumor suppressor 1 isoform 5

    See identical proteins and their annotated locations for NP_065800.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), also known as ATIP1, lacks multiple 5' exons but has an alternate 5' exon, compared to variant 1. It encodes the shortest isoform (5) which has a much shorter and distinct N-terminus, compared to isoform 1. Isoform 5 is a mitochondrial protein.
    Source sequence(s)
    AB033114, AF121259, AK289750, AL096842, BC098381, BC142971
    Consensus CDS
    CCDS43719.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000297488.6, ENST00000297488.10
    Conserved Domains (1) summary
    cl25732
    Location:85 → 381
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_156437.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA368734, AC124069, AF121259, BF726246, DA214747, DC381323
    Related
    ENST00000520196.5

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

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    17643802..17801521 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    17910954..18069106 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001927.1: Suppressed sequence

    Description
    NM_001001927.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9ULD2.2 GenPept UniProtKB/Swiss-Prot:Q9ULD2

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