Aliases for SMIM5 Gene

Aliases for SMIM5 Gene

  • Small Integral Membrane Protein 5 2 3 4 5
  • C17orf109 3 4
  • Chromosome 17 Open Reading Frame 109 2
  • PP12104 3
  • SMIM5 5

External Ids for SMIM5 Gene

Previous HGNC Symbols for SMIM5 Gene

  • C17orf109

Previous GeneCards Identifiers for SMIM5 Gene

  • GC17P073632

Summaries for SMIM5 Gene

GeneCards Summary for SMIM5 Gene

SMIM5 (Small Integral Membrane Protein 5) is a Protein Coding gene. Diseases associated with SMIM5 include Quebec Platelet Disorder.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMIM5 Gene

Genomics for SMIM5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMIM5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMIM5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMIM5

Genomic Locations for SMIM5 Gene

Latest Assembly
chr17:75,633,434-75,641,406
(GRCh38/hg38)
Size:
7,973 bases
Orientation:
Plus strand

Previous Assembly
chr17:73,629,514-73,637,486
(GRCh37/hg19 by Entrez Gene)
Size:
7,973 bases
Orientation:
Plus strand

chr17:73,629,514-73,637,484
(GRCh37/hg19 by Ensembl)
Size:
7,971 bases
Orientation:
Plus strand

Genomic View for SMIM5 Gene

Genes around SMIM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM5 Gene

Proteins for SMIM5 Gene

  • Protein details for SMIM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71RC9-SMIM5_HUMAN
    Recommended name:
    Small integral membrane protein 5
    Protein Accession:
    Q71RC9

    Protein attributes for SMIM5 Gene

    Size:
    77 amino acids
    Molecular mass:
    8540 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ15244.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=EAW89296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SMIM5 Gene

Post-translational modifications for SMIM5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SMIM5 Gene

Domains & Families for SMIM5 Gene

Gene Families for SMIM5 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SMIM5 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with SMIM5: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMIM5 Gene

Function for SMIM5 Gene

Phenotypes From GWAS Catalog for SMIM5 Gene

Gene Ontology (GO) - Molecular Function for SMIM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with SMIM5: view

Phenotypes for SMIM5 Gene

genes like me logo Genes that share phenotypes with SMIM5: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMIM5

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SMIM5 Gene

Localization for SMIM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM5 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMIM5 gene
Compartment Confidence
nucleus 1
cytosol 1
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMIM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM5: view

Pathways & Interactions for SMIM5 Gene

PathCards logo

SuperPathways for SMIM5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMIM5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SMIM5 Gene

Drugs & Compounds for SMIM5 Gene

No Compound Related Data Available

Transcripts for SMIM5 Gene

mRNA/cDNA for SMIM5 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMIM5

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM5 Gene

No ASD Table

Relevant External Links for SMIM5 Gene

GeneLoc Exon Structure for
SMIM5

Expression for SMIM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMIM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMIM5 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.8).

Protein differential expression in normal tissues from HIPED for SMIM5 Gene

This gene is overexpressed in Platelet (27.8), Urine (20.5), and Bone (18.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMIM5 Gene



Protein tissue co-expression partners for SMIM5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMIM5

SOURCE GeneReport for Unigene cluster for SMIM5 Gene:

Hs.528605
genes like me logo Genes that share expression patterns with SMIM5: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM5 Gene

Orthologs for SMIM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C17H17orf109 30
  • 99.13 (n)
SMIM5 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SMIM5 30
  • 87.67 (n)
Mouse
(Mus musculus)
Mammalia Smim5 30 17 31
  • 80.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMIM5 30 31
  • 78.79 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SMIM5 31
  • 55 (a)
OneToOne
Species where no ortholog for SMIM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SMIM5 Gene

ENSEMBL:
Gene Tree for SMIM5 (if available)
TreeFam:
Gene Tree for SMIM5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMIM5: view image

Paralogs for SMIM5 Gene

No data available for Paralogs for SMIM5 Gene

Variants for SMIM5 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SMIM5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SMIM5 Gene

Variant ID Type Subtype PubMed ID
nsv470603 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv833543 CNV loss 17160897
nsv833544 CNV loss 17160897

Variation tolerance for SMIM5 Gene

Gene Damage Index Score: 1.01; 20.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMIM5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMIM5 Gene

Disorders for SMIM5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMIM5 Gene - From: COP

Disorder Aliases PubMed IDs
quebec platelet disorder
  • qpd
- elite association - COSMIC cancer census association via MalaCards
Search SMIM5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMIM5

genes like me logo Genes that share disorders with SMIM5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMIM5 Gene

Publications for SMIM5 Gene

  1. FUT11 as a potential biomarker of clear cell renal cell carcinoma progression based on meta-analysis of gene expression data. (PMID: 24318988) Zodro E … Wesoly J (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2014) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

Products for SMIM5 Gene

Sources for SMIM5 Gene