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

Gene ID: 55374, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 7.0), kidney (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q31.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (140596530..140647732)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (141121974..141172663)
105.20220307 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 (16) 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)

Genotypes

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_2023_10

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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