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    SMIM22 small integral membrane protein 22 [ Homo sapiens (human) ]

    Gene ID: 440335, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SMIM22provided by HGNC
    Official Full Name
    small integral membrane protein 22provided by HGNC
    Primary source
    HGNC:HGNC:48329
    See related
    Ensembl:ENSG00000267795 AllianceGenome:HGNC:48329
    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
    CASIMO1
    Summary
    Involved in several processes, including lipid droplet formation; positive regulation of cell migration; and regulation of actin cytoskeleton organization. Predicted to be located in late endosome. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in colon (RPKM 25.1), stomach (RPKM 16.4) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4788397..4796491)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4817885..4825973)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4838398..4846492)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 3 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4763641-4764282 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr16:4764283-4764922 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4768049-4768651 and GRCh37_chr16:4768652-4769253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7164 Neighboring gene dynein axonemal assembly factor 8 Neighboring gene zinc finger protein 500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10344 Neighboring gene septin 12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4852142-4852642 Neighboring gene Sharpr-MPRA regulatory region 4562 Neighboring gene rogdi atypical leucine zipper Neighboring gene glyoxylate reductase 1 homolog Neighboring gene uncharacterized LOC124903638

    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 cancer-associated microprotein CASIMO1 controls cell proliferation and interacts with squalene epoxidase modulating lipid droplet formation. Polycarpou-Schwarz M, et al. Oncogene, 2018 Aug. PMID 29765154
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid droplet formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in late endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small integral membrane protein 22

    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_001253790.1 → NP_001240719.1  small integral membrane protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001240719.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (1). Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      BC035868, CK903133
      Consensus CDS
      CCDS59258.1
      UniProtKB/Swiss-Prot
      A0A1U9AC72, K7EIG5, K7EIH2, K7EJ46
      Related
      ENSP00000465660.1, ENST00000589721.5
      Conserved Domains (1) summary
      cd20255
      Location:6 → 83
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    2. NM_001253791.1 → NP_001240720.1  small integral membrane protein 22 isoform 2

      See identical proteins and their annotated locations for NP_001240720.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a longer protein (isoform 2), compared to isoform 1. Both variants 2 and 4 encode the same isoform (2).
      Source sequence(s)
      BC048326, CK903133
      Consensus CDS
      CCDS59259.1
      UniProtKB/Swiss-Prot
      K7EJ46
      Related
      ENSP00000468237.1, ENST00000589327.5
      Conserved Domains (1) summary
      cd20255
      Location:6 → 88
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    3. NM_001253793.2 → NP_001240722.1  small integral membrane protein 22 isoform 1

      See identical proteins and their annotated locations for NP_001240722.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC020663, BI767985, CK903133
      Consensus CDS
      CCDS59258.1
      UniProtKB/Swiss-Prot
      A0A1U9AC72, K7EIG5, K7EIH2, K7EJ46
      Related
      ENSP00000464737.1, ENST00000588606.5
      Conserved Domains (1) summary
      cd20255
      Location:6 → 83
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    4. NM_001253794.2 → NP_001240723.1  small integral membrane protein 22 isoform 2

      See identical proteins and their annotated locations for NP_001240723.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a longer protein (isoform 2), compared to isoform 1. Both variants 2 and 4 encode the same isoform (2).
      Source sequence(s)
      AA507469, AC020663, BI767985, CK903133
      Consensus CDS
      CCDS59259.1
      UniProtKB/Swiss-Prot
      K7EJ46
      Related
      ENSP00000464748.1, ENST00000586005.6
      Conserved Domains (1) summary
      cd20255
      Location:6 → 88
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4788397..4796491
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522500.3 → XP_011520802.1  small integral membrane protein 22 isoform X1

      See identical proteins and their annotated locations for XP_011520802.1

      UniProtKB/Swiss-Prot
      K7EJ46
      Related
      ENSP00000481592.1, ENST00000615889.4
      Conserved Domains (1) summary
      cd20255
      Location:6 → 88
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    2. XM_011522501.3 → XP_011520803.1  small integral membrane protein 22 isoform X1

      See identical proteins and their annotated locations for XP_011520803.1

      UniProtKB/Swiss-Prot
      K7EJ46
      Conserved Domains (1) summary
      cd20255
      Location:6 → 88
      CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4817885..4825973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380382.1 → XP_054236357.1  small integral membrane protein 22 isoform X1

    2. XM_054380381.1 → XP_054236356.1  small integral membrane protein 22 isoform X1

    3. XM_054380383.1 → XP_054236358.1  small integral membrane protein 22 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    K7EJ46.2 GenPept UniProtKB/Swiss-Prot:K7EJ46

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