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TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 [ Homo sapiens (human) ]

Gene ID: 160418, updated on 17-Oct-2021

Summary

Official Symbol
TMTC3provided by HGNC
Official Full Name
transmembrane O-mannosyltransferase targeting cadherins 3provided by HGNC
Primary source
HGNC:HGNC:26899
See related
Ensembl:ENSG00000139324 MIM:617218
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
LIS8; SMILE
Summary
This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in skin (RPKM 6.6), esophagus (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

See TMTC3 in Genome Data Viewer
Location:
12q21.32
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (88142307..88199887)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (88536084..88593664)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 38A pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 364 Neighboring gene centrosomal protein 290 Neighboring gene suppressyn-like Neighboring gene KIT ligand

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

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
Lissencephaly 8
MedGen: C4310646 OMIM: 617255 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90492, DKFZp686C0968, DKFZp686M1969, DKFZp686O2342, DKFZp686O22167

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 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
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 TMTC3
Names
transmembrane and TPR repeat-containing protein 3
transmembrane and tetratricopeptide repeat containing 3
NP_001353503.1
NP_001353508.1
NP_001353509.1
NP_001353512.1
NP_861448.2

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_021187.1 RefSeqGene

    Range
    5012..62592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001366574.1NP_001353503.1  protein O-mannosyl-transferase TMTC3 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC087865, AC091516, AC127901, KF455688
    Conserved Domains (3) summary
    sd00006
    Location:470497
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:199271
    DUF1736; Domain of unknown function (DUF1736)
    cl26002
    Location:375742
    TPR_11; TPR repeat
  2. NM_001366579.1NP_001353508.1  protein O-mannosyl-transferase TMTC3 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC087865, AC091516, AC127901
    Conserved Domains (3) summary
    sd00006
    Location:457484
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:186258
    DUF1736; Domain of unknown function (DUF1736)
    cl26002
    Location:362729
    TPR_11; TPR repeat
  3. NM_001366580.1NP_001353509.1  protein O-mannosyl-transferase TMTC3 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC087865, AC091516, AC127901, KF455688
    Conserved Domains (3) summary
    sd00006
    Location:441468
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:170242
    DUF1736; Domain of unknown function (DUF1736)
    cl26002
    Location:346713
    TPR_11; TPR repeat
  4. NM_001366583.1NP_001353512.1  protein O-mannosyl-transferase TMTC3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC087865, AC091516, AC127901
    Conserved Domains (3) summary
    sd00006
    Location:299326
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:28100
    DUF1736; Domain of unknown function (DUF1736)
    cl26002
    Location:204571
    TPR_11; TPR repeat
  5. NM_181783.4NP_861448.2  protein O-mannosyl-transferase TMTC3 isoform 1

    See identical proteins and their annotated locations for NP_861448.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK290436, BC117175, BG287027, BX538169, CR737828, CR749309, CR933632
    Consensus CDS
    CCDS9032.1
    UniProtKB/Swiss-Prot
    Q6ZXV5
    UniProtKB/TrEMBL
    A8K321
    Related
    ENSP00000266712.6, ENST00000266712.11
    Conserved Domains (3) summary
    sd00006
    Location:530557
    TPR; TPR repeat [structural motif]
    pfam08409
    Location:259331
    DUF1736; Domain of unknown function (DUF1736)
    cl26002
    Location:435802
    TPR_11; TPR repeat

RNA

  1. NR_159381.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087865, AC091516, AC127901, AK310375

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    88142307..88199887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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