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    SMCO1 single-pass membrane protein with coiled-coil domains 1 [ Homo sapiens (human) ]

    Gene ID: 255798, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SMCO1provided by HGNC
    Official Full Name
    single-pass membrane protein with coiled-coil domains 1provided by HGNC
    Primary source
    HGNC:HGNC:27407
    See related
    Ensembl:ENSG00000214097 AllianceGenome:HGNC:27407
    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
    C3orf43
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward heart (RPKM 14.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See SMCO1 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196506879..196520955, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199226058..199240237, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196233750..196242217, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196158055-196158829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196158830-196159603 Neighboring gene UBXN7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21092 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:196197078-196197254 Neighboring gene ring finger protein 168 Neighboring gene uncharacterized LOC105374306 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196228749-196229433 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196229434-196230117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15065 Neighboring gene uncharacterized LOC105374307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:196238811-196239311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15066 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:196260004-196260617 Neighboring gene NAA50 pseudogene 2 Neighboring gene ribosomal protein S29 pseudogene 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
    • 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 novel protein C3orf43 accelerates hepatocyte proliferation. Zhang C, et al. Cell Mol Biol Lett, 2017. PMID 28932249, Free PMC Article
    2. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    3. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41923, MGC141734, MGC141735, DKFZp313B0440

    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
    single-pass membrane and coiled-coil domain-containing protein 1

    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_001077657.3 → NP_001071125.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001071125.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK123917, AL833140, BC118636
      Consensus CDS
      CCDS43192.1
      UniProtKB/Swiss-Prot
      B3KW20, Q147U7
      UniProtKB/TrEMBL
      A8K657
      Related
      ENSP00000380671.2, ENST00000397537.3
      Conserved Domains (1) summary
      pfam15080
      Location:19 → 213
      DUF4547; Domain of unknown function (DUF4547)

    2. NM_001320473.2 → NP_001307402.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AL833140, AL833443
      UniProtKB/TrEMBL
      A8K657
      Conserved Domains (1) summary
      pfam15080
      Location:11 → 205
      DUF4547; Domain of unknown function (DUF4547)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196506879..196520955 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453435.2 → XP_024309203.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8K657
      Conserved Domains (1) summary
      pfam15080
      Location:17 → 211
      DUF4547; Domain of unknown function (DUF4547)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199226058..199240237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346006.1 → XP_054201981.1  single-pass membrane and coiled-coil domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q147U7.2 GenPept UniProtKB/Swiss-Prot:Q147U7

    Gene LinkOut

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

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