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

Gene ID: 339674, updated on 5-Mar-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
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41946949..41958939)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42426562..42438557)
105.20220307 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: 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. 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
  2. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
  3. 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)

Genotypes

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_2023_10

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

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