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

    Gene ID: 57509, updated on 5-May-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. [Microtubule-associated tumor suppressor 1 inhibits hemin-induced apoptosis of vascular endothelial cells via hemeoxygenase 1].
      Title: [Microtubule-associated tumor suppressor 1 inhibits hemin-induced apoptosis of vascular endothelial cells via hemeoxygenase 1].
    2. 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.
    3. MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer.
      Title: MTUS1 is a promising diagnostic and prognostic biomarker for colorectal cancer.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (40)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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