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TMC6 transmembrane channel like 6 [ Homo sapiens (human) ]

Gene ID: 11322, updated on 2-Oct-2018

Summary

Official Symbol
TMC6provided by HGNC
Official Full Name
transmembrane channel like 6provided by HGNC
Primary source
HGNC:HGNC:18021
See related
Ensembl:ENSG00000141524 MIM:605828; Vega:OTTHUMG00000177466
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EV1; EVER1; EVIN1; LAK-4P
Summary
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 21.6), lymph node (RPKM 18.5) and 20 other tissues See more
Orthologs

Genomic context

See TMC6 in Genome Data Viewer
Location:
17q25.3
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (78108775..78132427, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76108999..76128488, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing 6C Neighboring gene RNA, U6 small nuclear 625, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 2 Neighboring gene TNRC6C antisense RNA 1 Neighboring gene CEB72 minisatellite repeat instability region Neighboring gene transmembrane channel like 8 Neighboring gene chromosome 17 open reading frame 99 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 2 Neighboring gene synaptogyrin 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
EPIDERMODYSPLASIA VERRUCIFORMIS
MedGen: C0014522 OMIM: 226400 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17776

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mechanosensitive ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transmembrane channel-like protein 6
Names
epidermodysplasia verruciformis 1
epidermodysplasia verruciformis protein 1
expressed in activated T/LAK lymphocytes
protein LAK-4

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_007879.1 RefSeqGene

    Range
    5001..24490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_118

mRNA and Protein(s)

  1. NM_001127198.2NP_001120670.1  transmembrane channel-like protein 6

    See identical proteins and their annotated locations for NP_001120670.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.
    Source sequence(s)
    AK074065, BC023597, HY100488
    Consensus CDS
    CCDS32748.1
    UniProtKB/Swiss-Prot
    Q7Z403
    UniProtKB/TrEMBL
    A0A024R8V2
    Related
    ENSP00000465261.1, OTTHUMP00000256765, ENST00000590602.5, OTTHUMT00000437146
    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain
  2. NM_001321185.1NP_001308114.1  transmembrane channel-like protein 6

    Status: REVIEWED

    Source sequence(s)
    AC021593, BC023597, HY100488
    Consensus CDS
    CCDS32748.1
    UniProtKB/Swiss-Prot
    Q7Z403
    UniProtKB/TrEMBL
    A0A024R8V2
    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain
  3. NM_007267.7NP_009198.4  transmembrane channel-like protein 6

    See identical proteins and their annotated locations for NP_009198.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AK074065, BC023597, HY057592
    Consensus CDS
    CCDS32748.1
    UniProtKB/Swiss-Prot
    Q7Z403
    UniProtKB/TrEMBL
    A0A024R8V2
    Related
    ENSP00000313408.2, OTTHUMP00000256720, ENST00000322914.7, OTTHUMT00000437046
    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    78108775..78132427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450556.1XP_024306324.1  transmembrane channel-like protein 6 isoform X1

    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain
  2. XM_017024108.1XP_016879597.1  transmembrane channel-like protein 6 isoform X3

    Conserved Domains (1) summary
    pfam07810
    Location:512582
    TMC; TMC domain
  3. XM_017024107.1XP_016879596.1  transmembrane channel-like protein 6 isoform X3

    Conserved Domains (1) summary
    pfam07810
    Location:512582
    TMC; TMC domain
  4. XM_024450555.1XP_024306323.1  transmembrane channel-like protein 6 isoform X1

    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain
  5. XM_005256995.1XP_005257052.1  transmembrane channel-like protein 6 isoform X1

    See identical proteins and their annotated locations for XP_005257052.1

    UniProtKB/Swiss-Prot
    Q7Z403
    UniProtKB/TrEMBL
    A0A024R8V2
    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain
  6. XM_024450557.1XP_024306325.1  transmembrane channel-like protein 6 isoform X4

    Conserved Domains (1) summary
    pfam07810
    Location:313419
    TMC; TMC domain
  7. XM_011524256.1XP_011522558.1  transmembrane channel-like protein 6 isoform X2

    Conserved Domains (1) summary
    pfam07810
    Location:503600
    TMC; TMC domain
  8. XM_011524258.1XP_011522560.1  transmembrane channel-like protein 6 isoform X6

    Related
    ENSP00000306405.6, OTTHUMP00000269011, ENST00000306591.11, OTTHUMT00000460689
  9. XM_011524255.1XP_011522557.1  transmembrane channel-like protein 6 isoform X1

    See identical proteins and their annotated locations for XP_011522557.1

    UniProtKB/Swiss-Prot
    Q7Z403
    UniProtKB/TrEMBL
    A0A024R8V2
    Related
    ENSP00000376260.2, OTTHUMP00000256721, ENST00000392467.7, OTTHUMT00000437047
    Conserved Domains (1) summary
    pfam07810
    Location:540646
    TMC; TMC domain
  10. XM_011524257.3XP_011522559.1  transmembrane channel-like protein 6 isoform X5

    Conserved Domains (1) summary
    pfam07810
    Location:275372
    TMC; TMC domain

RNA

  1. XR_001752420.1 RNA Sequence

  2. XR_243632.1 RNA Sequence

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