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

Gene ID: 83857, updated on 23-Nov-2021

Summary

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
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
Expression
Broad expression in fat (RPKM 11.8), spleen (RPKM 11.6) and 20 other tissues See more
Orthologs
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Genomic context

See TMTC1 in Genome Data Viewer
Location:
12p11.22
Exon count:
23
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (29500813..29784759, complement)
105.20201022 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 ERGIC and golgi 2 Neighboring gene OVCH1 antisense RNA 1 Neighboring gene ovochymase 1 Neighboring gene uncharacterized LOC105369714 Neighboring gene ribosomal protein L21 pseudogene 99 Neighboring gene uncharacterized LOC105369715 Neighboring gene uncharacterized LOC105369716 Neighboring gene long intergenic non-protein coding RNA 2386

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?

Phenotypes

Associated conditions

Description Tests
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.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association study of multiplex schizophrenia pedigrees.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31400, FLJ41625

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables mannosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA processing IEA
Inferred from Electronic Annotation
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_024304986.1

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_001193451.2NP_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
    Q8IUR5
    Related
    ENSP00000442046.1, ENST00000539277.6
    Conserved Domains (9) summary
    COG0457
    Location:561880
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:582610
    TPR; TPR repeat [structural motif]
    cd15832
    Location:549595
    SNAP; TPR repeat [structural motif]
    pfam00515
    Location:823855
    TPR_1; Tetratricopeptide repeat
    pfam07719
    Location:483516
    TPR_2; Tetratricopeptide repeat
    pfam08409
    Location:313365
    DUF1736; Domain of unknown function (DUF1736)
    pfam13414
    Location:482545
    TPR_11; TPR repeat
    pfam13428
    Location:689726
    TPR_14; Tetratricopeptide repeat
    cl24038
    Location:532801
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
  2. NM_001367875.2NP_001354804.1  protein O-mannosyl-transferase TMTC1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC009320, AC009510, AC012151, AC022078
    Related
    ENSP00000448112.1, ENST00000551659.5
  3. NM_175861.3NP_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/Swiss-Prot
    Q8IUR5
    Related
    ENSP00000256062.5, ENST00000256062.9
    Conserved Domains (9) summary
    COG0457
    Location:453772
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:474502
    TPR; TPR repeat [structural motif]
    cd15832
    Location:441487
    SNAP; TPR repeat [structural motif]
    pfam00515
    Location:715747
    TPR_1; Tetratricopeptide repeat
    pfam07719
    Location:375408
    TPR_2; Tetratricopeptide repeat
    pfam08409
    Location:205257
    DUF1736; Domain of unknown function (DUF1736)
    pfam13414
    Location:374437
    TPR_11; TPR repeat
    pfam13428
    Location:581618
    TPR_14; Tetratricopeptide repeat
    cl24038
    Location:424693
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024449218.1XP_024304986.1  protein O-mannosyl-transferase TMTC1 isoform X5

    Conserved Domains (3) summary
    TIGR02917
    Location:292698
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:405433
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:137188
    DUF1736; Domain of unknown function (DUF1736)
  2. XM_017020003.1XP_016875492.1  protein O-mannosyl-transferase TMTC1 isoform X2

    Conserved Domains (3) summary
    TIGR02917
    Location:502881
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:588616
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:353427
    DUF1736; Domain of unknown function (DUF1736)
  3. XM_017020004.1XP_016875493.1  protein O-mannosyl-transferase TMTC1 isoform X3

    Conserved Domains (3) summary
    TIGR02917
    Location:462868
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:575603
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:284358
    DUF1736; Domain of unknown function (DUF1736)
  4. XM_017020005.1XP_016875494.1  protein O-mannosyl-transferase TMTC1 isoform X4

    Conserved Domains (3) summary
    TIGR02917
    Location:400806
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:513541
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:245296
    DUF1736; Domain of unknown function (DUF1736)
  5. XM_017020007.2XP_016875496.1  protein O-mannosyl-transferase TMTC1 isoform X7

    Conserved Domains (3) summary
    TIGR02917
    Location:205611
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:318346
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:27101
    DUF1736; Domain of unknown function (DUF1736)
  6. XM_017020006.1XP_016875495.1  protein O-mannosyl-transferase TMTC1 isoform X6

    Conserved Domains (3) summary
    TIGR02917
    Location:519651
    PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
    sd00006
    Location:545573
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:353427
    DUF1736; Domain of unknown function (DUF1736)

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.
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