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TENM1 teneurin transmembrane protein 1 [ Homo sapiens (human) ]

Gene ID: 10178, updated on 12-Oct-2019

Summary

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Official Symbol
TENM1provided by HGNC
Official Full Name
teneurin transmembrane protein 1provided by HGNC
Primary source
HGNC:HGNC:8117
See related
Ensembl:ENSG00000009694 MIM:300588
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
TNM; ODZ1; ODZ3; TEN1; TNM1; ten-1; TEN-M1
Summary
The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Broad expression in prostate (RPKM 2.1), brain (RPKM 2.0) and 17 other tissues See more
Orthologs
mouse all

Genomic context

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See TENM1 in Genome Data Viewer
Location:
Xq25
Exon count:
41
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (124375903..125204381, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (123509753..124097666, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373331 Neighboring gene TEX13 family member D Neighboring gene SH2 domain containing 1A Neighboring gene ribosomal protein S26 pseudogene 57 Neighboring gene filamin binding LIM protein 1 pseudogene Neighboring gene TEX13 family member C

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. Overexpression of teneurin transmembrane protein 1 is a potential marker of disease progression in papillary thyroid carcinoma. Cheng SP, et al. Clin Exp Med, 2017 Nov. PMID 28004221
  2. ODZ1 allows glioblastoma to sustain invasiveness through a Myc-dependent transcriptional upregulation of RhoA. Talamillo A, et al. Oncogene, 2017 Mar 23. PMID 27641332
  3. The teneurins: new players in the generation of visual topography. Leamey CA, et al. Semin Cell Dev Biol, 2014 Nov. PMID 25152333
  4. Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Brandau O, et al. Hum Mol Genet, 1999 Dec. PMID 10556288
  5. A role for TENM1 mutations in congenital general anosmia. Alkelai A, et al. Clin Genet, 2016 Sep. PMID 27040985

See all (29) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Taken together, the results indicate that distinct pathways are involved in papillary thyroid cancer progression, and TENM1 is a potential marker of cancer progression.
    Title: Overexpression of teneurin transmembrane protein 1 is a potential marker of disease progression in papillary thyroid carcinoma.
  2. ODZ1, a protein that participates in the embryonic development of the brain, is also involved in cancer progression by promoting the growth and invasion capabilities of GSCs via a transcriptional pathway that induces the expression of RhoA and activation of downstream ROCK.
    Title: ODZ1 allows glioblastoma to sustain invasiveness through a Myc-dependent transcriptional upregulation of RhoA.
  3. Results of our study, that describes a new Tenm1 mouse, agree with the hypothesis that TENM1 has a role in olfaction. However, additional studies should be done in larger Congenital general anosmia (CGA) cohorts, to provide statistical evidence that loss-of-function mutations in TENM1 can solely cause the disease in our and other CGA cases
    Title: A role for TENM1 mutations in congenital general anosmia.
  4. Data suggest teneurin-1/TENM1 (and possibly TENM3) undergoes proteolysis to TCAPs (teneurin C-terminal associated peptides) that form intercellular adhesive units with latrophilin; signaling via TENM1 TCAPs appears to regulate reproduction. [REVIEW]
    Title: Role of the teneurins, teneurin C-terminal associated peptides (TCAP) in reproduction: clinical perspectives.
  5. This study identified predicted pathogenic, hemizygous variants on chromosome X in disease genes TENM1.
    Title: Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
  6. Studies indicate that teneurin-1 has been suggested as a candidate target gene for X-lined mental retardation.
    Title: The teneurins: new players in the generation of visual topography.
  7. The teneurin-1 intracellular domain binds HINT1, thus switching on MITF-dependent transcription of GPNMB.
    Title: The intracellular domain of teneurin-1 induces the activity of microphthalmia-associated transcription factor (MITF) by binding to transcriptional repressor HINT1.
  8. Subsequent analysis showed that the deletion in both cousins was identical and involved the whole SH2D1A gene and a part of the adjacent ODZ1 gene.
    Title: Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
  9. Data show that human teneurin-1 is directly regulated by EMX2 at a conserved promoter region upstream of the transcription start site, and identify and characterize the EMX2 dependent promoter element of human teneurin-1.
    Title: Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter.
  10. teneurin-1 plays a role in intracellular signaling
    Title: The intracellular domain of teneurin-1 interacts with MBD1 and CAP/ponsin resulting in subcellular codistribution and translocation to the nuclear matrix.
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

NHGRI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
NHGRI GWA Catalog

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of teneurin transmembrane protein 1 (TENM1; ODZ1) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cell adhesion molecule binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
heparin binding TAS
Traceable Author Statement
more info
 PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
immune response TAS
Traceable Author Statement
more info
 PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
 PubMed 
nervous system development TAS
Traceable Author Statement
more info
 PubMed 
neuron development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
neuropeptide signaling pathway IEA
Inferred from Electronic Annotation
more info
  
positive regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of intracellular protein transport ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
regulation of transcription by RNA polymerase III ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
  
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
extracellular region TAS
Traceable Author Statement
more info
 PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nuclear matrix ISS
Inferred from Sequence or Structural Similarity
more info
  
nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
  
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
teneurin-1
Names
odz (odd Oz/ten-m, Drosophila) homolog 3
odz, odd Oz/ten-m homolog 1(Drosophila)
protein Odd Oz/ten-m homolog 1
tenascin M1

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_013249.1 RefSeqGene

    Range
    5001..592914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163278.1 → NP_001156750.1  teneurin-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001156750.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF100772, AI498402, AK055765, AL022718, BC030766, BC140783, BX478232, CF454574
    Consensus CDS
    CCDS55488.1
    UniProtKB/Swiss-Prot
    Q9UKZ4
    Related
    ENSP00000403954.2, ENST00000422452.2
    Conserved Domains (10) summary
    COG3209
    Location:1825 → 2394
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd05819
    Location:1197 → 1236
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:1852 → 1892
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:2346 → 2424
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:529 → 732
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam05593
    Location:1644 → 1678
    RHS_repeat; RHS Repeat
    pfam06484
    Location:23 → 317
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:532 → 558
    EGF_2; EGF-like domain
    pfam15636
    Location:2650 → 2725
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:1168 → 1528
    NHL; NHL repeat unit of beta-propeller proteins

  2. NM_001163279.1 → NP_001156751.1  teneurin-1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001156751.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at one of the coding exons compared to variant 1. This results in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AF100772, AI498402, AK055765, AL022718, BC030766, BC144543, BX478232, CF454574
    UniProtKB/Swiss-Prot
    Q9UKZ4
    UniProtKB/TrEMBL
    B7ZMH4
    Conserved Domains (10) summary
    COG3209
    Location:1824 → 2393
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd05819
    Location:1196 → 1235
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:1851 → 1891
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:2345 → 2423
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:528 → 731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam05593
    Location:1643 → 1677
    RHS_repeat; RHS Repeat
    pfam06484
    Location:23 → 317
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:531 → 557
    EGF_2; EGF-like domain
    pfam15636
    Location:2649 → 2724
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:1167 → 1527
    NHL; NHL repeat unit of beta-propeller proteins

  3. NM_014253.3 → NP_055068.2  teneurin-1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_055068.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (3) missing an internal 7 aa protein segment compared to isoform 1.
    Source sequence(s)
    AF100772, AI498402, AK055765, AL022718, BC030766, BC140783, BX478232, CF454574
    Consensus CDS
    CCDS14609.1
    UniProtKB/Swiss-Prot
    Q9UKZ4
    Related
    ENSP00000360171.3, ENST00000371130.7
    Conserved Domains (10) summary
    COG3209
    Location:1818 → 2387
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd05819
    Location:1241 → 1284
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:1845 → 1885
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:2339 → 2417
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:529 → 732
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam05593
    Location:1637 → 1671
    RHS_repeat; RHS Repeat
    pfam06484
    Location:23 → 317
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:532 → 558
    EGF_2; EGF-like domain
    pfam15636
    Location:2643 → 2718
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:1168 → 1521
    NHL; NHL repeat unit of beta-propeller proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    124375903..125204381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029210.2 → XP_016884699.1  teneurin-1 isoform X1

  2. XM_017029211.2 → XP_016884700.1  teneurin-1 isoform X1

  3. XM_017029214.2 → XP_016884703.1  teneurin-1 isoform X3

    UniProtKB/Swiss-Prot
    Q9UKZ4
    Conserved Domains (10) summary
    COG3209
    Location:1818 → 2387
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd05819
    Location:1241 → 1284
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:1845 → 1885
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:2339 → 2417
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:529 → 732
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam05593
    Location:1637 → 1671
    RHS_repeat; RHS Repeat
    pfam06484
    Location:23 → 317
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:532 → 558
    EGF_2; EGF-like domain
    pfam15636
    Location:2643 → 2718
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:1168 → 1521
    NHL; NHL repeat unit of beta-propeller proteins

  4. XM_011531230.3 → XP_011529532.1  teneurin-1 isoform X2

    See identical proteins and their annotated locations for XP_011529532.1

    UniProtKB/Swiss-Prot
    Q9UKZ4
    Conserved Domains (10) summary
    COG3209
    Location:1825 → 2394
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd05819
    Location:1197 → 1236
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:1852 → 1892
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:2346 → 2424
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:529 → 732
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam05593
    Location:1644 → 1678
    RHS_repeat; RHS Repeat
    pfam06484
    Location:23 → 317
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:532 → 558
    EGF_2; EGF-like domain
    pfam15636
    Location:2650 → 2725
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:1168 → 1528
    NHL; NHL repeat unit of beta-propeller proteins

  5. XM_017029208.2 → XP_016884697.1  teneurin-1 isoform X1

  6. XM_017029209.2 → XP_016884698.1  teneurin-1 isoform X1

  7. XM_017029213.2 → XP_016884702.1  teneurin-1 isoform X1

  8. XM_017029212.2 → XP_016884701.1  teneurin-1 isoform X1

  9. XM_011531236.3 → XP_011529538.2  teneurin-1 isoform X4

  10. XM_011531237.3 → XP_011529539.1  teneurin-1 isoform X5

    Conserved Domains (7) summary
    COG3209
    Location:493 → 1062
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd05819
    Location:39 → 78
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:520 → 560
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:1014 → 1092
    Rhs_assc_core; RHS repeat-associated core domain
    pfam05593
    Location:312 → 346
    RHS_repeat; RHS Repeat
    pfam15636
    Location:1318 → 1393
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:2 → 196
    NHL; NHL repeat unit of beta-propeller proteins

  11. XM_017029216.2 → XP_016884705.1  teneurin-1 isoform X7

  12. XM_017029215.2 → XP_016884704.1  teneurin-1 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKZ4.2 GenPept UniProtKB/Swiss-Prot:Q9UKZ4

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