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    TMCO6 transmembrane and coiled-coil domains 6 [ Homo sapiens (human) ]

    Gene ID: 55374, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMCO6provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domains 6provided by HGNC
    Primary source
    HGNC:HGNC:28814
    See related
    Ensembl:ENSG00000113119 AllianceGenome:HGNC:28814
    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
    PRO1580
    Summary
    Predicted to enable nuclear import signal receptor activity. Predicted to be involved in protein import into nucleus. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.0), kidney (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCO6 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140596530..140647732)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141121974..141172663)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140019036..140024989)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267855 Neighboring gene small nucleolar RNA SNORA27 Neighboring gene HAUS augmin like complex subunit 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:139972510-139973459 Neighboring gene Sharpr-MPRA regulatory region 15063 Neighboring gene ribosomal protein L36 pseudogene 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140011403-140011904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140011905-140012404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16452 Neighboring gene CD14 molecule Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:140026953-140027488 Neighboring gene NADH:ubiquinone oxidoreductase subunit A2 Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene uncharacterized LOC124901088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:140043900-140044566 Neighboring gene WD repeat domain 55

    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. Candidate gene polymorphisms for ischemic stroke. Matarin M, et al. Stroke, 2009 Nov. PMID 19729601, Free PMC Article
    2. Polymorphisms in innate immunity genes and risk of childhood leukemia. Han S, et al. Hum Immunol, 2010 Jul. PMID 20438785, Free PMC Article
    3. Risk of meningioma and common variation in genes related to innate immunity. Rajaraman P, et al. Cancer Epidemiol Biomarkers Prev, 2010 May. PMID 20406964, Free PMC Article
    4. Common variation in genes related to innate immunity and risk of adult glioma. Rajaraman P, et al. Cancer Epidemiol Biomarkers Prev, 2009 May. PMID 19423540, Free PMC Article
    5. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Risk of meningioma and common variation in genes related to innate immunity.
    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

    • FLJ39769

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear import signal receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane and coiled-coil domain-containing protein 6

    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_001300980.2 → NP_001287909.1  transmembrane and coiled-coil domain-containing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001287909.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC001910, BC009618, DB196005
      Consensus CDS
      CCDS75320.1
      UniProtKB/Swiss-Prot
      Q96DC7
      Related
      ENSP00000252100.6, ENST00000252100.6
      Conserved Domains (3) summary
      COG5064
      Location:23 → 399
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      cd00020
      Location:104 → 218
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:104 → 135
      ARM; armadillo repeat [structural motif]

    2. NM_001300982.2 → NP_001287911.1  transmembrane and coiled-coil domain-containing protein 6 isoform 3

      See identical proteins and their annotated locations for NP_001287911.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two consecutive exons and has an alternate splice site in the 5' region, which result in translation initiation at a downstream in-frame AUG, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK097088, AK289495, BC065828, DB196005
      UniProtKB/Swiss-Prot
      Q96DC7
      UniProtKB/TrEMBL
      A8K0D0

    3. NM_018502.5 → NP_060972.3  transmembrane and coiled-coil domain-containing protein 6 isoform 2

      See identical proteins and their annotated locations for NP_060972.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the central coding region but maintains the reading frame, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AK097088, BC065828, DB196005
      Consensus CDS
      CCDS4233.2
      UniProtKB/Swiss-Prot
      Q96DC7, Q9BUU0, Q9P198
      Related
      ENSP00000378166.3, ENST00000394671.8
      Conserved Domains (3) summary
      COG5064
      Location:23 → 393
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      cd00020
      Location:104 → 218
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:104 → 135
      ARM; armadillo repeat [structural motif]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      140596530..140647732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417356.1 → XP_047273312.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    2. XM_047417357.1 → XP_047273313.1  transmembrane and coiled-coil domain-containing protein 6 isoform X7

    3. XM_024446125.2 → XP_024301893.1  transmembrane and coiled-coil domain-containing protein 6 isoform X7

    4. XM_047417358.1 → XP_047273314.1  transmembrane and coiled-coil domain-containing protein 6 isoform X7

    5. XM_047417355.1 → XP_047273311.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    6. XM_011537665.3 → XP_011535967.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

      See identical proteins and their annotated locations for XP_011535967.1

      Conserved Domains (2) summary
      sd00043
      Location:34 → 69
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:4 → 290
      Arm_3; Atypical Arm repeat

    7. XM_047417354.1 → XP_047273310.1  transmembrane and coiled-coil domain-containing protein 6 isoform X5

    8. XM_011537663.3 → XP_011535965.1  transmembrane and coiled-coil domain-containing protein 6 isoform X4

      Conserved Domains (3) summary
      COG5064
      Location:23 → 399
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      cd00020
      Location:104 → 218
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:104 → 135
      ARM; armadillo repeat [structural motif]

    9. XM_017009618.2 → XP_016865107.1  transmembrane and coiled-coil domain-containing protein 6 isoform X2

    10. XM_005268477.2 → XP_005268534.1  transmembrane and coiled-coil domain-containing protein 6 isoform X1

      Conserved Domains (3) summary
      COG5064
      Location:23 → 394
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      cd00020
      Location:104 → 218
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      sd00043
      Location:104 → 135
      ARM; armadillo repeat [structural motif]

    11. XM_047417353.1 → XP_047273309.1  transmembrane and coiled-coil domain-containing protein 6 isoform X3

    12. XM_024446124.2 → XP_024301892.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

      Conserved Domains (2) summary
      sd00043
      Location:34 → 69
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:4 → 290
      Arm_3; Atypical Arm repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      141121974..141172663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352898.1 → XP_054208873.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    2. XM_054352900.1 → XP_054208875.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    3. XM_054352897.1 → XP_054208872.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    4. XM_054352895.1 → XP_054208870.1  transmembrane and coiled-coil domain-containing protein 6 isoform X4

    5. XM_054352896.1 → XP_054208871.1  transmembrane and coiled-coil domain-containing protein 6 isoform X5

    6. XM_054352893.1 → XP_054208868.1  transmembrane and coiled-coil domain-containing protein 6 isoform X2

    7. XM_054352892.1 → XP_054208867.1  transmembrane and coiled-coil domain-containing protein 6 isoform X1

    8. XM_054352894.1 → XP_054208869.1  transmembrane and coiled-coil domain-containing protein 6 isoform X3

    9. XM_054352899.1 → XP_054208874.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    10. XM_054352901.1 → XP_054208876.1  transmembrane and coiled-coil domain-containing protein 6 isoform X7

      UniProtKB/TrEMBL
      A8K0D0

    11. XM_054352903.1 → XP_054208878.1  transmembrane and coiled-coil domain-containing protein 6 isoform X7

      UniProtKB/TrEMBL
      A8K0D0

    12. XM_054352902.1 → XP_054208877.1  transmembrane and coiled-coil domain-containing protein 6 isoform X7

      UniProtKB/TrEMBL
      A8K0D0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DC7.2 GenPept UniProtKB/Swiss-Prot:Q96DC7

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