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

    Gene ID: 57458, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in colon (RPKM 11.8), small intestine (RPKM 10.1) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001301036.2NP_001287965.1  transmembrane and coiled-coil domain protein 3 isoform 2

      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:38432
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    2. NM_020698.4NP_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:69463
      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)