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    TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1 [ Homo sapiens (human) ]

    Gene ID: 83857, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMTC1provided by HGNC
    Official Full Name
    transmembrane O-mannosyltransferase targeting cadherins 1provided by HGNC
    Primary source
    HGNC:HGNC:24099
    See related
    Ensembl:ENSG00000133687 MIM:615855; AllianceGenome:HGNC:24099
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OLF; ARG99; TMTC1A
    Summary
    Enables dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 11.8), spleen (RPKM 11.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMTC1 in Genome Data Viewer
    Location:
    12p11.22
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (29500813..29784759, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (29372944..29656989, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (29653746..29937692, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6157 Neighboring gene ERGIC and golgi 2 Neighboring gene OVCH1 antisense RNA 1 Neighboring gene ovochymase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27770 Neighboring gene uncharacterized LOC105369714 Neighboring gene uncharacterized LOC124902909 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:29793096-29793646 Neighboring gene NANOG hESC enhancer GRCh37_chr12:29815644-29816145 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:29862962-29863506 Neighboring gene ribosomal protein L21 pseudogene 99 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:29885622-29886821 Neighboring gene NANOG hESC enhancer GRCh37_chr12:29948379-29948880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:29962504-29963050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:29963051-29963596 Neighboring gene uncharacterized LOC105369715 Neighboring gene uncharacterized LOC105369716 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:30037798-30038424 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:30102210-30102426 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28029 Neighboring gene long intergenic non-protein coding RNA 2386

    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. Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia. Lu Y, et al. Asian J Psychiatr, 2024 Mar. PMID 38232443
    2. TMTC1 promotes invasiveness of ovarian cancer cells through integrins β1 and β4. Yeh TC, et al. Cancer Gene Ther, 2023 Aug. PMID 37221403, Free PMC Article
    3. TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis. Sunryd JC, et al. J Biol Chem, 2014 Jun 6. PMID 24764305, Free PMC Article
    4. Genome-wide association study of multiplex schizophrenia pedigrees. Levinson DF, et al. Am J Psychiatry, 2012 Sep. PMID 22885689, Free PMC Article
    5. Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. Eisenhaber B, et al. Biol Direct, 2021 Jan 12. PMID 33436046, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia.
      Title: Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia.
    2. TMTC1 promotes invasiveness of ovarian cancer cells through integrins beta1 and beta4.
      Title: TMTC1 promotes invasiveness of ovarian cancer cells through integrins β1 and β4.
    3. Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.
      Title: Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.
    4. O-mannosylation pathway dedicated to cadherins/ protocadherins orchestrated by the four TMTC1-4 genes
      Title: Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.
    5. findings provide an important link between aneuploidy and the stress pathways activated by Aurora B inhibition and also support the use of Aurora B inhibitors in combination therapy for treatment of cancer.
      Title: TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association study of multiplex schizophrenia pedigrees.
    EBI GWAS 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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane and tetratricopeptide repeat containing 1 (TMTC1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

    Clone Names

    • FLJ31400, FLJ41625

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein O-mannosyl-transferase TMTC1
    Names
    transmembrane and tetratricopeptide repeat containing 1
    transmembrane and tetratricopeptide repeat containing 1A
    NP_001180380.1
    NP_001354804.1
    NP_787057.2
    XP_016875492.1
    XP_016875493.1
    XP_016875494.1
    XP_016875495.1
    XP_016875496.1
    XP_047285590.1
    XP_047285592.1
    XP_054229362.1
    XP_054229363.1
    XP_054229364.1
    XP_054229365.1
    XP_054229366.1
    XP_054229367.1
    XP_054229368.1

    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.

    mRNA and Protein(s)

    1. NM_001193451.2 → NP_001180380.1  protein O-mannosyl-transferase TMTC1 isoform 1

      See identical proteins and their annotated locations for NP_001180380.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC012151, AC022078, BC042083, BG413338, GQ865601
      Consensus CDS
      CCDS53772.1
      UniProtKB/Swiss-Prot
      D0EP37, F5H8B5, Q6PIU4, Q6ZSM5, Q8IUR5, Q96N52, Q9BXM2
      UniProtKB/TrEMBL
      F8VXU8
      Related
      ENSP00000442046.1, ENST00000539277.6
      Conserved Domains (9) summary
      COG0457
      Location:561 → 880
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:582 → 610
      TPR; TPR repeat [structural motif]
      cd15832
      Location:549 → 595
      SNAP; TPR repeat [structural motif]
      pfam00515
      Location:823 → 855
      TPR_1; Tetratricopeptide repeat
      pfam07719
      Location:483 → 516
      TPR_2; Tetratricopeptide repeat
      pfam08409
      Location:313 → 365
      DUF1736; Domain of unknown function (DUF1736)
      pfam13414
      Location:482 → 545
      TPR_11; TPR repeat
      pfam13428
      Location:689 → 726
      TPR_14; Tetratricopeptide repeat
      cl24038
      Location:532 → 801
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

    2. NM_001367875.2 → NP_001354804.1  protein O-mannosyl-transferase TMTC1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009320, AC009510, AC012151, AC022078
      Consensus CDS
      CCDS91670.1
      UniProtKB/TrEMBL
      F8VTQ9, F8VXU8
      Related
      ENSP00000448112.1, ENST00000551659.6

    3. NM_175861.3 → NP_787057.2  protein O-mannosyl-transferase TMTC1 isoform 2

      See identical proteins and their annotated locations for NP_787057.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC009320, AC009510, AC012151, BC042083, BG413338
      Consensus CDS
      CCDS8718.1
      UniProtKB/TrEMBL
      F8VXU8
      Related
      ENSP00000256062.5, ENST00000256062.9
      Conserved Domains (9) summary
      COG0457
      Location:453 → 772
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:474 → 502
      TPR; TPR repeat [structural motif]
      cd15832
      Location:441 → 487
      SNAP; TPR repeat [structural motif]
      pfam00515
      Location:715 → 747
      TPR_1; Tetratricopeptide repeat
      pfam07719
      Location:375 → 408
      TPR_2; Tetratricopeptide repeat
      pfam08409
      Location:205 → 257
      DUF1736; Domain of unknown function (DUF1736)
      pfam13414
      Location:374 → 437
      TPR_11; TPR repeat
      pfam13428
      Location:581 → 618
      TPR_14; Tetratricopeptide repeat
      cl24038
      Location:424 → 693
      SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      29500813..29784759 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429634.1 → XP_047285590.1  protein O-mannosyl-transferase TMTC1 isoform X3

    2. XM_017020005.2 → XP_016875494.1  protein O-mannosyl-transferase TMTC1 isoform X4

      UniProtKB/TrEMBL
      F8VXU8
      Conserved Domains (3) summary
      TIGR02917
      Location:400 → 806
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:513 → 541
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:245 → 296
      DUF1736; Domain of unknown function (DUF1736)

    3. XM_017020004.2 → XP_016875493.1  protein O-mannosyl-transferase TMTC1 isoform X2

      UniProtKB/TrEMBL
      F8VXU8
      Conserved Domains (3) summary
      TIGR02917
      Location:462 → 868
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:575 → 603
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:284 → 358
      DUF1736; Domain of unknown function (DUF1736)

    4. XM_017020003.2 → XP_016875492.1  protein O-mannosyl-transferase TMTC1 isoform X1

      UniProtKB/TrEMBL
      F8VXU8
      Conserved Domains (3) summary
      TIGR02917
      Location:502 → 881
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:588 → 616
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:353 → 427
      DUF1736; Domain of unknown function (DUF1736)

    5. XM_017020007.3 → XP_016875496.1  protein O-mannosyl-transferase TMTC1 isoform X6

      UniProtKB/TrEMBL
      B3KVW1
      Conserved Domains (3) summary
      TIGR02917
      Location:205 → 611
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:318 → 346
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:27 → 101
      DUF1736; Domain of unknown function (DUF1736)

    6. XM_047429636.1 → XP_047285592.1  protein O-mannosyl-transferase TMTC1 isoform X7

    7. XM_017020006.2 → XP_016875495.1  protein O-mannosyl-transferase TMTC1 isoform X5

      Conserved Domains (3) summary
      TIGR02917
      Location:519 → 651
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:545 → 573
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:353 → 427
      DUF1736; Domain of unknown function (DUF1736)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      29372944..29656989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373389.1 → XP_054229364.1  protein O-mannosyl-transferase TMTC1 isoform X3

    2. XM_054373390.1 → XP_054229365.1  protein O-mannosyl-transferase TMTC1 isoform X4

    3. XM_054373388.1 → XP_054229363.1  protein O-mannosyl-transferase TMTC1 isoform X2

    4. XM_054373387.1 → XP_054229362.1  protein O-mannosyl-transferase TMTC1 isoform X1

    5. XM_054373392.1 → XP_054229367.1  protein O-mannosyl-transferase TMTC1 isoform X6

    6. XM_054373393.1 → XP_054229368.1  protein O-mannosyl-transferase TMTC1 isoform X7

    7. XM_054373391.1 → XP_054229366.1  protein O-mannosyl-transferase TMTC1 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_031920.2: Suppressed sequence

      Description
      NM_031920.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IUR5.3 GenPept UniProtKB/Swiss-Prot:Q8IUR5

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