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    SMIM19 small integral membrane protein 19 [ Homo sapiens (human) ]

    Gene ID: 114926, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SMIM19provided by HGNC
    Official Full Name
    small integral membrane protein 19provided by HGNC
    Primary source
    HGNC:HGNC:25166
    See related
    Ensembl:ENSG00000176209 AllianceGenome:HGNC:25166
    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
    C8orf40
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.5), kidney (RPKM 14.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8p11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42541148..42555195)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42809128..42823216)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (42396291..42410338)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr8:42248902-42249402 and GRCh37_chr8:42249403-42249903 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:42258699-42258918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27311 Neighboring gene dickkopf WNT signaling pathway inhibitor 4 Neighboring gene voltage dependent anion channel 3 Neighboring gene solute carrier family 20 member 2 Neighboring gene Sharpr-MPRA regulatory region 15103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42331955-42332466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42332467-42332978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333451-42333976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:42333977-42334500 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:42350219-42351086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42359656-42360855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19157 Neighboring gene Sharpr-MPRA regulatory region 9023 Neighboring gene NANOG hESC enhancer GRCh37_chr8:42409514-42410035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27312 Neighboring gene Sharpr-MPRA regulatory region 2659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:42516917-42517417 Neighboring gene uncharacterized LOC124900250 Neighboring gene uncharacterized LOC105379396 Neighboring gene cholinergic receptor nicotinic beta 3 subunit

    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. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    2. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small integral membrane protein 19
    Names
    UPF0697 protein C8orf40

    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_001135674.2 → NP_001129146.1  small integral membrane protein 19 isoform 1

      See identical proteins and their annotated locations for NP_001129146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All variants (1-4) encode the same protein.
      Source sequence(s)
      AC090739, DB519016
      Consensus CDS
      CCDS6133.2
      UniProtKB/Swiss-Prot
      B2R4S6, D3DSY4, Q96E16
      Related
      ENSP00000405694.2, ENST00000417410.7
      Conserved Domains (1) summary
      pfam15117
      Location:10 → 107
      UPF0697; Uncharacterized protein family UPF0697

    2. NM_001135675.2 → NP_001129147.1  small integral membrane protein 19 isoform 1

      See identical proteins and their annotated locations for NP_001129147.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All variants (1-4) encode the same protein.
      Source sequence(s)
      AC090739, AK311932, BC013035, BI335341, BI549696, DB519016
      Consensus CDS
      CCDS6133.2
      UniProtKB/Swiss-Prot
      B2R4S6, D3DSY4, Q96E16
      Related
      ENSP00000390750.2, ENST00000416469.6
      Conserved Domains (1) summary
      pfam15117
      Location:10 → 107
      UPF0697; Uncharacterized protein family UPF0697

    3. NM_001135676.2 → NP_001129148.1  small integral membrane protein 19 isoform 1

      See identical proteins and their annotated locations for NP_001129148.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All variants (1-4) encode the same protein.
      Source sequence(s)
      AC090739, BI463786, DB519016
      Consensus CDS
      CCDS6133.2
      UniProtKB/Swiss-Prot
      B2R4S6, D3DSY4, Q96E16
      Related
      ENSP00000391549.2, ENST00000438528.7
      Conserved Domains (1) summary
      pfam15117
      Location:10 → 107
      UPF0697; Uncharacterized protein family UPF0697

    4. NM_001363186.2 → NP_001350115.1  small integral membrane protein 19 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC090739, BX389412, HY008367
      Conserved Domains (1) summary
      pfam15117
      Location:17 → 114
      UPF0697; Uncharacterized protein family UPF0697

    5. NM_138436.4 → NP_612445.2  small integral membrane protein 19 isoform 1

      See identical proteins and their annotated locations for NP_612445.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All variants (1-4) encode the same protein.
      Source sequence(s)
      AC090739, BC013035, DA702519, DB519016
      Consensus CDS
      CCDS6133.2
      UniProtKB/Swiss-Prot
      B2R4S6, D3DSY4, Q96E16
      Related
      ENSP00000408997.2, ENST00000414154.6
      Conserved Domains (1) summary
      pfam15117
      Location:10 → 107
      UPF0697; Uncharacterized protein family UPF0697

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      42541148..42555195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      42809128..42823216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E16.2 GenPept UniProtKB/Swiss-Prot:Q96E16

    Gene LinkOut

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

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