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    TMCC3 transmembrane and coiled-coil domain family 3 [ Homo sapiens (human) ]

    Gene ID: 57458, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMCC3provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domain family 3provided by HGNC
    Primary source
    HGNC:HGNC:29199
    See related
    Ensembl:ENSG00000057704 MIM:617459; AllianceGenome:HGNC:29199
    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
    Summary
    Enables 14-3-3 protein binding activity and identical protein binding activity. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in colon (RPKM 11.8), small intestine (RPKM 10.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCC3 in Genome Data Viewer
    Location:
    12q22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (94567122..94650557, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (94547898..94631383, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (94960898..95044333, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:94954567-94955193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6787 Neighboring gene SUCLG2 pseudogene 2 Neighboring gene microRNA 5700 Neighboring gene microRNA 7844 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:95007851-95008440 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:95010515-95011014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6790 Neighboring gene uncharacterized LOC105369914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:95043785-95044500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6795 Neighboring gene uncharacterized LOC124902989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6797 Neighboring gene NANOG hESC enhancer GRCh37_chr12:95164297-95164856 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:95209587-95210226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6801 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:95227575-95228076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:95228077-95228576 Neighboring gene keratin 19 pseudogene 2 Neighboring gene microRNA 492

    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. TMCC3 localizes at the three-way junctions for the proper tubular network of the endoplasmic reticulum. Wisesa S, et al. Biochem J, 2019 Nov 15. PMID 31696206
    2. Transmembrane and coiled-coil domain family 3 (TMCC3) regulates breast cancer stem cell and AKT activation. Wang YH, et al. Oncogene, 2021 Apr. PMID 33742122, Free PMC Article
    3. Expression and characterization of transmembrane and coiled-coil domain family 3. Sohn WJ, et al. BMB Rep, 2016 Nov. PMID 27697108, Free PMC Article
    4. Transmembrane and coiled-coil domain family 1 is a novel protein of the endoplasmic reticulum. Zhang C, et al. PLoS One, 2014. PMID 24454821, Free PMC Article
    5. A three-stage genome-wide association study of general cognitive ability: hunting the small effects. Davis OS, et al. Behav Genet, 2010 Nov. PMID 20306291, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transmembrane and coiled-coil domain family 3 (TMCC3) regulates breast cancer stem cell and AKT activation.
      Title: Transmembrane and coiled-coil domain family 3 (TMCC3) regulates breast cancer stem cell and AKT activation.
    2. A TMCC3 mutant lacking the N-terminal coiled-coil domain abolished localization to tubular network of the endoplasmic reticulum, suggesting that TMCC3 localized independently of binding to atlastins.
      Title: TMCC3 localizes at the three-way junctions for the proper tubular network of the endoplasmic reticulum.
    3. TMCC3 proteins are localized in endoplasmic reticulum through transmembrane domains and polymerized with other TMCC3 protein an 1-3-3 proteins.
      Title: Expression and characterization of transmembrane and coiled-coil domain family 3.
    4. 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.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A three-stage genome-wide association study of general cognitive ability: hunting the small effects.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1145

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane and coiled-coil domain protein 3
    Names
    transmembrane and coiled-coil domains 3
    transmembrane and coiled-coil domains protein 3

    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_001301036.2 → NP_001287965.1  transmembrane and coiled-coil domain protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001287965.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB032971, AC026672, AI361720
      Consensus CDS
      CCDS73506.1
      UniProtKB/TrEMBL
      G3V207
      Related
      ENSP00000449888.1, ENST00000551457.1
      Conserved Domains (1) summary
      pfam10267
      Location:38 → 432
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    2. NM_020698.4 → NP_065749.3  transmembrane and coiled-coil domain protein 3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC026672
      Consensus CDS
      CCDS31877.1
      UniProtKB/Swiss-Prot
      Q8IWB2, Q9ULS5
      Related
      ENSP00000261226.4, ENST00000261226.9
      Conserved Domains (1) summary
      pfam10267
      Location:69 → 463
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    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
      94567122..94650557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      94547898..94631383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULS5.3 GenPept UniProtKB/Swiss-Prot:Q9ULS5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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