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    TMCO4 transmembrane and coiled-coil domains 4 [ Homo sapiens (human) ]

    Gene ID: 255104, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMCO4provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domains 4provided by HGNC
    Primary source
    HGNC:HGNC:27393
    See related
    Ensembl:ENSG00000162542 AllianceGenome:HGNC:27393
    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
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 7.2), prostate (RPKM 7.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCO4 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (19682240..19799916, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (19505616..19623756, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (20008733..20126409, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MICOS10-NBL1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19969817-19970652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19976919-19977536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19991190-19992162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19992163-19993133 Neighboring gene NBL1, DAN family BMP antagonist Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20015541-20016055 Neighboring gene 5-hydroxytryptamine receptor 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20066909-20067410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20067411-20067910 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:20076458-20077657 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:20091493-20092692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:20106613-20107114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:20126577-20127077 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20143237-20143768 Neighboring gene RNF186 antisense RNA 1 Neighboring gene ring finger protein 186 Neighboring gene uncharacterized LOC105376823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 362 Neighboring gene OTU deubiquitinase 3

    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 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. The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins. Hémono M, et al. BMC Biol, 2022 Jan 10. PMID 35012549, Free PMC Article
    2. Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. Kiss RS, et al. J Biol Chem, 2023 Nov. PMID 37774976, Free PMC Article
    3. A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins. May DG, et al. Viruses, 2022 Mar 15. PMID 35337019, Free PMC Article
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    • DKFZp686C23231

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 4

    NCBI Reference Sequences (RefSeq)

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    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_001349112.3 → NP_001336041.1  transmembrane and coiled-coil domain-containing protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL031727, AL031730, AL391883
      Consensus CDS
      CCDS198.1
      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1
      UniProtKB/TrEMBL
      A0A075B6H3
      Conserved Domains (1) summary
      cl21494
      Location:185 → 521
      Abhydrolase; alpha/beta hydrolases

    2. NM_001349113.3 → NP_001336042.1  transmembrane and coiled-coil domain-containing protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL031727, AL031730, AL391883
      Consensus CDS
      CCDS198.1
      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1
      UniProtKB/TrEMBL
      A0A075B6H3
      Related
      ENSP00000364269.1, ENST00000375127.5
      Conserved Domains (1) summary
      cl21494
      Location:185 → 521
      Abhydrolase; alpha/beta hydrolases

    3. NM_001349114.3 → NP_001336043.1  transmembrane and coiled-coil domain-containing protein 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL031727, AL031730, AL391883
      Consensus CDS
      CCDS198.1
      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1
      UniProtKB/TrEMBL
      A0A075B6H3
      Conserved Domains (1) summary
      cl21494
      Location:185 → 521
      Abhydrolase; alpha/beta hydrolases

    4. NM_001349115.1 → NP_001336044.1  transmembrane and coiled-coil domain-containing protein 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks multiple 3' coding exons and contains an alternate 3' coding region and 3' UTR compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK309310, AL031730, AL391883, BX108228
      Conserved Domains (1) summary
      cl21494
      Location:185 → 294
      Abhydrolase; alpha/beta hydrolases

    5. NM_181719.7 → NP_859070.3  transmembrane and coiled-coil domain-containing protein 4 isoform 1

      See identical proteins and their annotated locations for NP_859070.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK127543, BM974434, BX640987
      Consensus CDS
      CCDS198.1
      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1
      UniProtKB/TrEMBL
      A0A075B6H3
      Related
      ENSP00000294543.6, ENST00000294543.11
      Conserved Domains (1) summary
      cl21494
      Location:185 → 521
      Abhydrolase; alpha/beta hydrolases

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      19682240..19799916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541185.4 → XP_011539487.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

      See identical proteins and their annotated locations for XP_011539487.1

      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1
      UniProtKB/TrEMBL
      A0A075B6H3
      Conserved Domains (1) summary
      cl21494
      Location:185 → 521
      Abhydrolase; alpha/beta hydrolases

    2. XM_047416926.1 → XP_047272882.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    3. XM_011541181.2 → XP_011539483.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011539483.1

      Conserved Domains (1) summary
      pfam05277
      Location:285 → 621
      DUF726; Protein of unknown function (DUF726)

    4. XM_011541179.3 → XP_011539481.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011539481.1

      Conserved Domains (1) summary
      pfam05277
      Location:285 → 621
      DUF726; Protein of unknown function (DUF726)

    5. XM_017000916.2 → XP_016856405.1  transmembrane and coiled-coil domain-containing protein 4 isoform X2

    6. XM_011541180.3 → XP_011539482.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011539482.1

      Conserved Domains (1) summary
      pfam05277
      Location:285 → 621
      DUF726; Protein of unknown function (DUF726)

    7. XM_047416943.1 → XP_047272899.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1

    8. XM_047416922.1 → XP_047272878.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    9. XM_047416936.1 → XP_047272892.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

      UniProtKB/Swiss-Prot
      Q5TGY1, Q5TGY2, Q6MZN5, Q7Z6K6, Q9UQP4, Q9Y3K1

    10. XM_047416933.1 → XP_047272889.1  transmembrane and coiled-coil domain-containing protein 4 isoform X3

    11. XM_017000917.2 → XP_016856406.1  transmembrane and coiled-coil domain-containing protein 4 isoform X4

      Conserved Domains (1) summary
      pfam05277
      Location:244 → 580
      DUF726; Protein of unknown function (DUF726)

    12. XM_047416948.1 → XP_047272904.1  transmembrane and coiled-coil domain-containing protein 4 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      19505616..19623756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335778.1 → XP_054191753.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

    2. XM_054335770.1 → XP_054191745.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    3. XM_054335777.1 → XP_054191752.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

    4. XM_054335771.1 → XP_054191746.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    5. XM_054335768.1 → XP_054191743.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    6. XM_054335766.1 → XP_054191741.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    7. XM_054335772.1 → XP_054191747.1  transmembrane and coiled-coil domain-containing protein 4 isoform X2

    8. XM_054335767.1 → XP_054191742.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    9. XM_054335776.1 → XP_054191751.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

    10. XM_054335769.1 → XP_054191744.1  transmembrane and coiled-coil domain-containing protein 4 isoform X1

    11. XM_054335775.1 → XP_054191750.1  transmembrane and coiled-coil domain-containing protein 4 isoform X5

    12. XM_054335773.1 → XP_054191748.1  transmembrane and coiled-coil domain-containing protein 4 isoform X3

    13. XM_054335774.1 → XP_054191749.1  transmembrane and coiled-coil domain-containing protein 4 isoform X4

    14. XM_054335779.1 → XP_054191754.1  transmembrane and coiled-coil domain-containing protein 4 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TGY1.1 GenPept UniProtKB/Swiss-Prot:Q5TGY1

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