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    TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 [ Homo sapiens (human) ]

    Gene ID: 84899, updated on 25-Jan-2022

    Summary

    Official Symbol
    TMTC4provided by HGNC
    Official Full Name
    transmembrane O-mannosyltransferase targeting cadherins 4provided by HGNC
    Primary source
    HGNC:HGNC:25904
    See related
    Ensembl:ENSG00000125247 MIM:618203; AllianceGenome:HGNC:25904
    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
    Summary
    This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in brain (RPKM 8.0), testis (RPKM 5.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TMTC4 in Genome Data Viewer
    Location:
    13q32.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (100603625..100675631, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (101255879..101327049, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene propionyl-CoA carboxylase subunit alpha Neighboring gene Sharpr-MPRA regulatory region 10114 Neighboring gene ribosomal protein S26 pseudogene 47 Neighboring gene gamma-glutamylamine cyclotransferase Neighboring gene cytochrome c oxidase subunit 5B pseudogene 6 Neighboring gene NALCN antisense RNA 1 Neighboring gene ADP ribosylation factor 4 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 9290

    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

    • FLJ14624, FLJ22153, FLJ42608

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables mannosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables mannosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endoplasmic reticulum unfolded protein response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outer hair cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endoplasmic reticulum calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein O-linked mannosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein O-mannosyl-transferase TMTC4
    Names
    transmembrane and TPR repeat-containing protein 4
    transmembrane and tetratricopeptide repeat containing 4
    NP_001073137.1
    NP_001273382.1
    NP_001337500.1
    NP_001337501.1
    NP_001337503.1
    NP_001337505.1
    NP_001337506.1
    NP_116202.2
    XP_011519424.1
    XP_011519425.1
    XP_011519427.1
    XP_016876286.1
    XP_016876287.1
    XP_016876288.1
    XP_016876289.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053145.1 RefSeqGene

      Range
      5299..76469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079669.4NP_001073137.1  protein O-mannosyl-transferase TMTC4 isoform 2

      See identical proteins and their annotated locations for NP_001073137.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, has multiple coding region differences, and initiates translation at a downstream start codon, compared to variant 4. The encoded isoform (2) is shorter than isoform 4. Both variants 2 and 5 encode the same isoform (2).
      Source sequence(s)
      AL359085, AW513848, BX647956
      Consensus CDS
      CCDS41904.1
      UniProtKB/Swiss-Prot
      Q5T4D3
      Related
      ENSP00000365408.3, ENST00000376234.7
      Conserved Domains (3) summary
      COG0457
      Location:481717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:482510
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:294366
      DUF1736; Domain of unknown function (DUF1736)
    2. NM_001286453.3NP_001273382.1  protein O-mannosyl-transferase TMTC4 isoform 3

      See identical proteins and their annotated locations for NP_001273382.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains multiple differences in the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AF339792, AK299859, AL359085, AW513848, DC377683
      Consensus CDS
      CCDS66575.1
      UniProtKB/Swiss-Prot
      Q5T4D3
      Related
      ENSP00000365409.2, ENST00000328767.9
      Conserved Domains (7) summary
      smart00028
      Location:473506
      TPR; Tetratricopeptide repeats
      sd00006
      Location:371399
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:439472
      TPR_1; Tetratricopeptide repeat
      pfam07719
      Location:371404
      TPR_2; Tetratricopeptide repeat
      pfam08409
      Location:181255
      DUF1736; Domain of unknown function (DUF1736)
      pfam13414
      Location:370436
      TPR_11; TPR repeat
      pfam13431
      Location:393426
      TPR_17; Tetratricopeptide repeat
    3. NM_001350571.2NP_001337500.1  protein O-mannosyl-transferase TMTC4 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AL359085
      Conserved Domains (3) summary
      COG0457
      Location:558794
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:559587
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:369443
      DUF1736; Domain of unknown function (DUF1736)
    4. NM_001350572.2NP_001337501.1  protein O-mannosyl-transferase TMTC4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, has multiple coding region differences, and initiates translation at a downstream start codon, compared to variant 4. The encoded isoform (2) is shorter than isoform 4. Both variants 2 and 5 encode the same isoform (2).
      Source sequence(s)
      AL359085
      Consensus CDS
      CCDS41904.1
      Conserved Domains (3) summary
      COG0457
      Location:481717
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:482510
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:294366
      DUF1736; Domain of unknown function (DUF1736)
    5. NM_001350574.2NP_001337503.1  protein O-mannosyl-transferase TMTC4 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 4. The encoded isoform (5) is has a shorter and distinct N-terminus compared to isoform 4.
      Source sequence(s)
      AL359085
      Conserved Domains (3) summary
      COG0457
      Location:539775
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:540568
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:350424
      DUF1736; Domain of unknown function (DUF1736)
    6. NM_001350576.2NP_001337505.1  protein O-mannosyl-transferase TMTC4 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 5' coding region, compared to variant 4. The encoded isoform (6) is shorter than isoform 4.
      Source sequence(s)
      AL359085
      Conserved Domains (3) summary
      COG0457
      Location:498734
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:499527
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:313383
      DUF1736; Domain of unknown function (DUF1736)
    7. NM_001350577.2NP_001337506.1  protein O-mannosyl-transferase TMTC4 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, has multiple coding region differences, and initiates translation at a downstream start codon, compared to variant 4. The encoded isoform (7) is shorter than isoform 4.
      Source sequence(s)
      AL359085
      Conserved Domains (3) summary
      COG0457
      Location:479715
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480508
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:294364
      DUF1736; Domain of unknown function (DUF1736)
    8. NM_032813.5NP_116202.2  protein O-mannosyl-transferase TMTC4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region, compared to variant 4. The encoded isoform (1) is shorter than isoform 4.
      Source sequence(s)
      AK056409, AL359085, AW513848, BG830268, CV029196, DA368450
      Consensus CDS
      CCDS9497.2
      UniProtKB/Swiss-Prot
      Q5T4D3
      Related
      ENSP00000343871.5, ENST00000342624.10
      Conserved Domains (7) summary
      smart00028
      Location:603636
      TPR; Tetratricopeptide repeats
      sd00006
      Location:501529
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:569602
      TPR_1; Tetratricopeptide repeat
      pfam07719
      Location:501534
      TPR_2; Tetratricopeptide repeat
      pfam08409
      Location:311385
      DUF1736; Domain of unknown function (DUF1736)
      pfam13414
      Location:500566
      TPR_11; TPR repeat
      pfam13431
      Location:523556
      TPR_17; Tetratricopeptide repeat

    RNA

    1. NR_146794.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks two alternate exons in the 5' region and contains an alternate exon in the 3' region, compared to variant 4. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL359085

    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_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      100603625..100675631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521122.3XP_011519424.1  protein O-mannosyl-transferase TMTC4 isoform X1

      See identical proteins and their annotated locations for XP_011519424.1

      Conserved Domains (3) summary
      COG0457
      Location:558794
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:559587
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:369443
      DUF1736; Domain of unknown function (DUF1736)
    2. XM_017020798.1XP_016876287.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      COG0457
      Location:264500
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:265293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75149
      DUF1736; Domain of unknown function (DUF1736)
    3. XM_011521123.2XP_011519425.1  protein O-mannosyl-transferase TMTC4 isoform X2

      See identical proteins and their annotated locations for XP_011519425.1

      Conserved Domains (3) summary
      COG0457
      Location:539775
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:540568
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:350424
      DUF1736; Domain of unknown function (DUF1736)
    4. XM_017020799.2XP_016876288.1  protein O-mannosyl-transferase TMTC4 isoform X5

      Conserved Domains (3) summary
      COG0457
      Location:264500
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:265293
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:75149
      DUF1736; Domain of unknown function (DUF1736)
    5. XM_017020797.2XP_016876286.1  protein O-mannosyl-transferase TMTC4 isoform X4

      Conserved Domains (3) summary
      COG0457
      Location:322558
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:323351
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:133207
      DUF1736; Domain of unknown function (DUF1736)
    6. XM_011521125.1XP_011519427.1  protein O-mannosyl-transferase TMTC4 isoform X3

      Conserved Domains (3) summary
      COG0457
      Location:528670
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:559587
      TPR; TPR repeat [structural motif]
      pfam08409
      Location:369443
      DUF1736; Domain of unknown function (DUF1736)
    7. XM_017020800.1XP_016876289.1  protein O-mannosyl-transferase TMTC4 isoform X6

      Conserved Domains (1) summary
      pfam08409
      Location:369443
      DUF1736; Domain of unknown function (DUF1736)
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