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

Gene ID: 83857, updated on 3-Apr-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 mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
12p11.22
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (29500813..29784759, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (29372944..29656989, complement)
105.20220307 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. 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
  2. Genome-wide association study of multiplex schizophrenia pedigrees. Levinson DF, et al. Am J Psychiatry, 2012 Sep. PMID 22885689, Free PMC Article
  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. Eisenhaber B, et al. Biol Direct, 2021 Jan 12. PMID 33436046, Free PMC Article
  4. Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins. Larsen ISB, et al. Proc Natl Acad Sci U S A, 2017 Oct 17. PMID 28973932, Free PMC Article
  5. 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. Smith NL, et al. Circ Cardiovasc Genet, 2010 Jun. PMID 20445134, Free PMC Article

See all (22) 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)

Genotypes

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
  
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_2023_10

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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