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

Gene ID: 114926, updated on 2-Nov-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 located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 18.5), kidney (RPKM 14.5) and 25 other tissues See more
Orthologs
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Genomic context

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See SMIM19 in Genome Data Viewer
Location:
8p11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (42541148..42555195)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (42809128..42823216)
RS_2024_09 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 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_2024_08

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

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