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    SMCO4 single-pass membrane protein with coiled-coil domains 4 [ Homo sapiens (human) ]

    Gene ID: 56935, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SMCO4provided by HGNC
    Official Full Name
    single-pass membrane protein with coiled-coil domains 4provided by HGNC
    Primary source
    HGNC:HGNC:24810
    See related
    Ensembl:ENSG00000166002 MIM:609477; AllianceGenome:HGNC:24810
    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
    FN5; C11orf75
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in salivary gland (RPKM 8.9), prostate (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93478472..93553979, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93394933..93470364, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93211638..93276557, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATP synthase subunit ATP5MJ, mitochondrial-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5389 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93063547-93064048 Neighboring gene uncharacterized LOC124902734 Neighboring gene deuterosome assembly protein 1 Neighboring gene NANOG hESC enhancer GRCh37_chr11:93131833-93132334 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:93154443-93155082 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:93177550-93178122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93270830-93271376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3838 Neighboring gene SRP14 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 223, pseudogene Neighboring gene N-6 adenine-specific DNA methyltransferase 1 (putative) pseudogene

    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. Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. Kehrer-Sawatzki H, et al. Gene, 2000 Jun 13. PMID 10863097
    2. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    3. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    single-pass membrane and coiled-coil domain-containing protein 4
    Names
    UPF0443 protein C11orf75

    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_020179.3 → NP_064564.1  single-pass membrane and coiled-coil domain-containing protein 4

      See identical proteins and their annotated locations for NP_064564.1

      Status: VALIDATED

      Source sequence(s)
      AF197137, AP003499, BC031564
      Consensus CDS
      CCDS8292.1
      UniProtKB/Swiss-Prot
      Q9NRQ5
      UniProtKB/TrEMBL
      E9PQ76
      Related
      ENSP00000298966.2, ENST00000298966.7
      Conserved Domains (1) summary
      pfam15012
      Location:1 → 55
      DUF4519; Domain of unknown function (DUF4519)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      93478472..93553979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542909.1 → XP_011541211.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X2

    2. XM_011542907.1 → XP_011541209.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X1

    3. XM_017018020.1 → XP_016873509.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X3

    4. XM_047427266.1 → XP_047283222.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X4

    5. XM_011542911.3 → XP_011541213.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      93394933..93470364 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369383.1 → XP_054225358.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X2

    2. XM_054369382.1 → XP_054225357.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X1

    3. XM_054369384.1 → XP_054225359.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X3

    4. XM_054369386.1 → XP_054225361.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X4

    5. XM_054369385.1 → XP_054225360.1  single-pass membrane and coiled-coil domain-containing protein 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRQ5.1 GenPept UniProtKB/Swiss-Prot:Q9NRQ5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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