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SMIM5 Gene(Protein Coding)

Small Integral Membrane Protein 5

GCID:
GC17P075633
GIFtS:
33
Genes Participants
UDN Logo

Aliases for SMIM5 Gene

Aliases for SMIM5 Gene

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

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.

Additional gene information for SMIM5 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMIM5 Gene

Genomics for SMIM5 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SMIM5 Gene

Promoters and enhancers for SMIM5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17I075638 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.4 +10.3 10278 9.6 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A DMAP1 SMIM6 SMIM5 RECQL5 GGA3 NT5C NUP85 UNK ENSG00000266980 SAP30BP TRIM65
GH17I075632 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.1 +1.9 1868 5.7 HDGF PKNOX1 MLX ARID4B NEUROD1 SIN3A ZNF2 ZNF213 ZNF207 ZNF143 SMIM5 MYO15B RECQL5 NT5C NUP85 UNK ENSG00000266980 SAP30BP TRIM65 GGA3
GH17I075683 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +59.4 59445 19.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A ZBTB7B E2F8 ZNF207 FOS RECQL5 ITGB4 NT5C NUP85 UNK SAP30BP ENSG00000266980 SMIM5 GALK1 TRIM65
GH17I075747 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.3 +114.5 114484 0.6 HDGF ARID4B SIN3A ZNF2 ZNF121 ELK1 ARID2 ZNF143 MXD4 REST UNK NT5C NUP85 SRSF2 ENSG00000266980 RECQL5 SMIM5 TRIM65 ITGB4 GGA3
GH17I075749 Enhancer 1.1 Ensembl ENCODE 12.2 +116.8 116775 1.2 HDGF ARID4B SIN3A ZNF2 ZBTB7B ZNF48 GLIS2 ZNF207 ZNF143 SP3 GC17P075751 GC17M075747 RECQL5 SMIM5 ITGB4 UNK GGA3 TEN1 GC17M075722
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMIM5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SMIM5 Gene

Genomic Locations for SMIM5 Gene
chr17:75,633,434-75,641,406
(GRCh38/hg38)
Size:
7,973 bases
Orientation:
Plus strand
chr17:73,629,514-73,637,486
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for SMIM5 Gene

Proteins for SMIM5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SMIM5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SMIM5 Gene

No Post-translational modifications

Other Protein References for SMIM5 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SMIM5 Gene

Function for SMIM5 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for SMIM5 Gene

Phenotypes for SMIM5 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 2
cytosol 2
extracellular 1

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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM5: view

Pathways & Interactions for SMIM5 Gene

SuperPathways for SMIM5 Gene

PathCards logo More details on SuperPathways for SMIM5
No Data Available

Interacting Proteins for SMIM5 Gene

Selected Interacting proteins: Q71RC9-SMIM5_HUMAN for SMIM5 Gene via UniProtKB

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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SMIM5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SMIM5 Gene

(10) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SMIM5 Gene

Small integral membrane protein 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SMIM5 Gene

GeneLoc Exon Structure for
SMIM5
ECgene alternative splicing isoforms for
SMIM5

Expression for SMIM5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for SMIM5 Gene
mRNA expression by GTEx 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

NURSA nuclear receptor signaling pathways regulating expression of SMIM5 Gene:

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 33
  • 99.13 (n)
SMIM5 34
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SMIM5 33
  • 87.67 (n)
mouse
(Mus musculus)
 Mammalia Smim5 33 16 34
  • 80.95 (n)
cow
(Bos Taurus)
 Mammalia SMIM5 33 34
  • 78.79 (n)
chicken
(Gallus gallus)
 Aves SMIM5 34
  • 55 (a)
 OneToOne
Species where no ortholog for SMIM5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SMIM5 Gene

No data available for Paralogs for SMIM5 Gene

Variants for SMIM5 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SMIM5 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000045499 -- 75,632,266(+) G/A upstream_transcript_variant
rs1000059605 -- 75,635,014(+) C/T 3_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000333509 -- 75,640,066(+) T/C 5_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000872473 -- 75,638,650(+) GGGGGGG/GGGGGGGG downstream_transcript_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1001378645 -- 75,639,686(+) G/A 5_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant

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 Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM5 Gene

Disorders for SMIM5 Gene

Additional Disease Information for SMIM5

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SMIM5 Gene.

No data available for MalaCards , 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 58
  2. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  5. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. (PMID: 12107410) Wistow G … Peterson K (Molecular vision 2002) 3 58

Products for SMIM5 Gene

Sources for SMIM5 Gene

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