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

Gene ID: 55374, updated on 1-Jun-2020

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
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
Expression
Ubiquitous expression in testis (RPKM 7.0), kidney (RPKM 5.4) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See TMCO6 in Genome Data Viewer
Location:
5q31.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (140596529..140647411)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140019012..140024989)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene amyloid beta precursor protein binding family B member 3 Neighboring gene solute carrier family 35 member A4 Neighboring gene uncharacterized LOC112267855 Neighboring gene HAUS augmin like complex subunit 1 pseudogene 1 Neighboring gene ribosomal protein L36 pseudogene 11 Neighboring gene CD14 molecule Neighboring gene NADH:ubiquinone oxidoreductase subunit A2 Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene WD repeat domain 55 Neighboring gene DND microRNA-mediated repression inhibitor 1

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. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article

See all (13) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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
nuclear import signal receptor activity IEA
Inferred from Electronic Annotation
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
protein import into nucleus IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
integral component of 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_001300980.1 → 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, BC065828, 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_001300982.1 → 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
    Related
    ENSP00000378166.3, ENST00000394671.7
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    140596529..140647411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537665.2 → XP_011535967.1  transmembrane and coiled-coil domain-containing protein 6 isoform X5

    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

  2. XM_011537663.2 → 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]

  3. XM_017009618.1 → XP_016865107.1  transmembrane and coiled-coil domain-containing protein 6 isoform X3

  4. XM_005268477.1 → 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]

  5. XM_017009617.2 → XP_016865106.1  transmembrane and coiled-coil domain-containing protein 6 isoform X2

  6. XM_024446124.1 → XP_024301892.1  transmembrane and coiled-coil domain-containing protein 6 isoform X5

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

  7. XM_017009620.1 → XP_016865109.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    UniProtKB/Swiss-Prot
    Q96DC7
    Conserved Domains (1) summary
    cd00020
    Location:92 → 200
    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, ...

  8. XM_024446126.1 → XP_024301894.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

  9. XM_011537668.2 → XP_011535970.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

    See identical proteins and their annotated locations for XP_011535970.1

    UniProtKB/Swiss-Prot
    Q96DC7
    Conserved Domains (1) summary
    cd00020
    Location:92 → 200
    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, ...

  10. XM_017009619.1 → XP_016865108.1  transmembrane and coiled-coil domain-containing protein 6 isoform X5

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

  11. XM_024446125.1 → XP_024301893.1  transmembrane and coiled-coil domain-containing protein 6 isoform X6

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

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