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    SMIM45 small integral membrane protein 45 [ Homo sapiens (human) ]

    Gene ID: 339674, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SMIM45provided by HGNC
    Official Full Name
    small integral membrane protein 45provided by HGNC
    Primary source
    HGNC:HGNC:27930
    See related
    Ensembl:ENSG00000205704 AllianceGenome:HGNC:27930
    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
    LINC00634; BK250D10.8
    Summary
    Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 7.1), adrenal (RPKM 0.9) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM45 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41946949..41958939)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42426562..42438557)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42342953..42354943)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42315058-42315561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321037-42321538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42321539-42322038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13813 Neighboring gene TNF receptor superfamily member 13C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42324809-42325419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42325420-42326029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42328573-42329080 Neighboring gene microRNA 378i Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19144 Neighboring gene CAGE-defined B cell enhancer downstream of CENPM Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42335612-42336579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19150 Neighboring gene centromere protein M Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42346983-42347610 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42351209-42351720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13816 Neighboring gene septin 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394342-42394858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42394859-42395373 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:42396708-42397907 Neighboring gene solute carrier family 25 member 5 pseudogene 1 Neighboring gene WBP2 N-terminal like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. De novo genes with an lncRNA origin encode unique human brain developmental functionality. An NA, et al. Nat Ecol Evol, 2023 Feb. PMID 36593289, Free PMC Article
    2. Long Noncoding RNA LINC00634 Functions as an Oncogene in Esophageal Squamous Cell Carcinoma Through the miR-342-3p/Bcl2L1 Axis. Zhang X, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 32583748, Free PMC Article
    3. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    4. 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Long Noncoding RNA LINC00634 Functions as an Oncogene in Esophageal Squamous Cell Carcinoma Through the miR-342-3p/Bcl2L1 Axis.
      Title: Long Noncoding RNA LINC00634 Functions as an Oncogene in Esophageal Squamous Cell Carcinoma Through the miR-342-3p/Bcl2L1 Axis.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in neuron maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    small integral membrane protein 45
    Names
    long intergenic non-protein coding RNA 634
    protein SMIM45

    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_001395940.1 → NP_001382869.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Related
      ENSP00000499702.1, ENST00000381348.5
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    2. NM_001395941.1 → NP_001382870.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    3. NM_001395942.1 → NP_001382871.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    4. NM_001395943.1 → NP_001382872.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    5. NM_001395944.1 → NP_001382873.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    6. NM_001395945.1 → NP_001382874.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    7. NM_001395946.1 → NP_001382875.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Related
      ENSP00000518693.1, ENST00000711329.1
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    8. NM_001395947.1 → NP_001382876.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    9. NM_001395948.1 → NP_001382877.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    10. NM_001395949.1 → NP_001382878.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    11. NM_001395950.1 → NP_001382879.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    12. NM_001395951.1 → NP_001382880.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    13. NM_001395952.1 → NP_001382881.1  small integral membrane protein 45

      Status: VALIDATED

      Source sequence(s)
      Z99716
      Consensus CDS
      CCDS93175.1
      UniProtKB/Swiss-Prot
      A0A590UK49, A0A590UK83
      Conserved Domains (1) summary
      PLN02960
      Location:29 → 52
      PLN02960; alpha-amylase

    RNA

    1. NR_172941.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      Z99716

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41946949..41958939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42426562..42438557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A590UK83.2 GenPept UniProtKB/Swiss-Prot:A0A590UK83

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials