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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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See SMIM22 in Genome Data Viewer
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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