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

Gene ID: 57509, updated on 7-Jun-2020

Summary

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
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

Genomic context

See MTUS1 in Genome Data Viewer
Location:
8p22
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (17643794..17801579, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17501303..17658729, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 7 member 2 Neighboring gene uncharacterized LOC107986919 Neighboring gene platelet derived growth factor receptor like Neighboring gene Sharpr-MPRA regulatory region 10631 Neighboring gene microRNA 548v Neighboring gene RNA, 5S ribosomal pseudogene 256 Neighboring gene uncharacterized LOC101930275 Neighboring gene fibrinogen like 1 Neighboring gene pericentriolar material 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14295, KIAA1288, DKFZp586D1519, DKFZp686F20243

Gene Ontology Provided by GOA

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

General protein information

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)

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
    5001..162124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001924.2NP_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
    Q9ULD2
    Related
    ENSP00000262102.6, ENST00000262102.10
    Conserved Domains (1) summary
    cl25732
    Location:9191215
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001001925.2NP_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:8651161
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001001931.2NP_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, AC124069, AF121259, AK125188, AL096842, BC142971, DA075758
    Consensus CDS
    CCDS43718.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000371285.3, ENST00000381861.7
    Conserved Domains (3) summary
    cd00187
    Location:254364
    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:194457
    DUF2046; Uncharacterized conserved protein H4 (DUF2046)
    cl21588
    Location:332481
    Snf7; Snf7
  4. NM_001166393.1NP_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:152262
    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:225301
    DUF342; Protein of unknown function (DUF342)
  5. NM_001330470.1NP_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, AF121259, AL096842, BC136320, BG719490, CV571752, DA743734
    Consensus CDS
    CCDS83254.1
    UniProtKB/Swiss-Prot
    Q9ULD2
    Related
    ENSP00000489288.1, ENST00000634613.1
  6. NM_001363057.2NP_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:9191193
    SMC_N; RecF/RecN/SMC N terminal domain
  7. NM_001363058.1NP_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
    Conserved Domains (1) summary
    cl25732
    Location:9191215
    SMC_N; RecF/RecN/SMC N terminal domain
  8. NM_001363059.1NP_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
    Conserved Domains (1) summary
    cl25732
    Location:9191215
    SMC_N; RecF/RecN/SMC N terminal domain
  9. NM_001363060.2NP_001349989.1  microtubule-associated tumor suppressor 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC027117, AC124069, AF121259
    Conserved Domains (1) summary
    cl25732
    Location:8651139
    SMC_N; RecF/RecN/SMC N terminal domain
  10. NM_001363061.1NP_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
    Conserved Domains (1) summary
    cl25732
    Location:9191215
    SMC_N; RecF/RecN/SMC N terminal domain
  11. NM_001363062.1NP_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:8651161
    SMC_N; RecF/RecN/SMC N terminal domain
  12. NM_020749.4NP_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:85381
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. NR_156437.1 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    17643794..17801579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013698.2XP_016869187.1  microtubule-associated tumor suppressor 1 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:9191193
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_011544595.3XP_011542897.1  microtubule-associated tumor suppressor 1 isoform X2

    Conserved Domains (2) summary
    COG1340
    Location:9401194
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cl23720
    Location:10131179
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_005273581.3XP_005273638.1  microtubule-associated tumor suppressor 1 isoform X4

    See identical proteins and their annotated locations for XP_005273638.1

    Conserved Domains (1) summary
    cl25732
    Location:8651139
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_005273578.3XP_005273635.1  microtubule-associated tumor suppressor 1 isoform X1

    See identical proteins and their annotated locations for XP_005273635.1

    Conserved Domains (1) summary
    cl25732
    Location:9191193
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_024447213.1XP_024302981.1  microtubule-associated tumor suppressor 1 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:9191193
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_017013699.1XP_016869188.1  microtubule-associated tumor suppressor 1 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:9191193
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_005273583.5XP_005273640.1  microtubule-associated tumor suppressor 1 isoform X6

  8. XM_017013703.2XP_016869192.1  microtubule-associated tumor suppressor 1 isoform X7

RNA

  1. XR_001745567.2 RNA Sequence

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.
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