Aliases for CYSTM1 Gene

Aliases for CYSTM1 Gene

  • Cysteine Rich Transmembrane Module Containing 1 2 3 5
  • Cysteine-Rich And Transmembrane Domain-Containing Protein 1 3 4
  • ORF1-FL49 2 3
  • C5orf32 3 4
  • Chromosome 5 Open Reading Frame 32 2
  • Putative Nuclear Protein ORF1-FL49 3
  • UPF0467 Protein C5orf32 3
  • CYSTM1 5

External Ids for CYSTM1 Gene

Previous HGNC Symbols for CYSTM1 Gene

  • C5orf32

Previous GeneCards Identifiers for CYSTM1 Gene

  • GC05P139555
  • GC05P140192
  • GC05P140193
  • GC05P142819

Summaries for CYSTM1 Gene

GeneCards Summary for CYSTM1 Gene

CYSTM1 (Cysteine Rich Transmembrane Module Containing 1) is a Protein Coding gene. Diseases associated with CYSTM1 include Sengers Syndrome. Among its related pathways are Innate Immune System.

Additional gene information for CYSTM1 Gene

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 CYSTM1 Gene

Genomics for CYSTM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYSTM1 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 CYSTM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYSTM1

Genomic Locations for CYSTM1 Gene

Genomic Locations for CYSTM1 Gene
chr5:140,175,156-140,282,052
(GRCh38/hg38)
Size:
106,897 bases
Orientation:
Plus strand
chr5:139,554,227-139,661,637
(GRCh37/hg19)
Size:
107,411 bases
Orientation:
Plus strand

Genomic View for CYSTM1 Gene

Genes around CYSTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYSTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYSTM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYSTM1 Gene

Proteins for CYSTM1 Gene

  • Protein details for CYSTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1C7-CYTM1_HUMAN
    Recommended name:
    Cysteine-rich and transmembrane domain-containing protein 1
    Protein Accession:
    Q9H1C7
    Secondary Accessions:
    • Q8TBA5

    Protein attributes for CYSTM1 Gene

    Size:
    97 amino acids
    Molecular mass:
    10631 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CYSTM1 Gene

Post-translational modifications for CYSTM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYSTM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYSTM1 Gene

Domains & Families for CYSTM1 Gene

Gene Families for CYSTM1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYSTM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYSTM1 Gene

GenScript: Design optimal peptide antigens:
  • UPF0467 protein C5orf32 (CE032_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1C7

UniProtKB/Swiss-Prot:

CYTM1_HUMAN :
  • Belongs to the CYSTM1 family.
Family:
  • Belongs to the CYSTM1 family.
genes like me logo Genes that share domains with CYSTM1: view

Function for CYSTM1 Gene

Phenotypes From GWAS Catalog for CYSTM1 Gene

Gene Ontology (GO) - Molecular Function for CYSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with CYSTM1: view
genes like me logo Genes that share phenotypes with CYSTM1: view

Animal Model Products

CRISPR Products

miRNA for CYSTM1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYSTM1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYSTM1 Gene

Localization for CYSTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYSTM1 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 CYSTM1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 1
nucleus 0

Gene Ontology (GO) - Cellular Components for CYSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
GO:0070821 tertiary granule membrane TAS --
genes like me logo Genes that share ontologies with CYSTM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYSTM1 Gene

Pathways & Interactions for CYSTM1 Gene

PathCards logo

SuperPathways for CYSTM1 Gene

genes like me logo Genes that share pathways with CYSTM1: view

Pathways by source for CYSTM1 Gene

3 Reactome pathways for CYSTM1 Gene

Gene Ontology (GO) - Biological Process for CYSTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with CYSTM1: view

No data available for SIGNOR curated interactions for CYSTM1 Gene

Drugs & Compounds for CYSTM1 Gene

No Compound Related Data Available

Transcripts for CYSTM1 Gene

mRNA/cDNA for CYSTM1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYSTM1

Alternative Splicing Database (ASD) splice patterns (SP) for CYSTM1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6
SP1: - - - -
SP2: -
SP3: - -
SP4:
SP5: - -

Relevant External Links for CYSTM1 Gene

GeneLoc Exon Structure for
CYSTM1

Expression for CYSTM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYSTM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYSTM1 Gene

This gene is overexpressed in Whole Blood (x9.4) and Stomach (x7.3).

Protein differential expression in normal tissues from HIPED for CYSTM1 Gene

This gene is overexpressed in Urine (31.4) and Bone (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYSTM1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYSTM1

SOURCE GeneReport for Unigene cluster for CYSTM1 Gene:

Hs.529798

Evidence on tissue expression from TISSUES for CYSTM1 Gene

  • Muscle(4.4)
  • Skin(4.3)
  • Nervous system(4.2)
  • Stomach(2.6)
  • Kidney(2)
genes like me logo Genes that share expression patterns with CYSTM1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYSTM1 Gene

Orthologs for CYSTM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYSTM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYSTM1 30 31
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYSTM1 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CYSTM1 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cystm1 31
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8223 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.3465 30
Zebrafish
(Danio rerio)
Actinopterygii CYSTM1 31
  • 47 (a)
OneToOne
Species where no ortholog for CYSTM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CYSTM1 Gene

ENSEMBL:
Gene Tree for CYSTM1 (if available)
TreeFam:
Gene Tree for CYSTM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYSTM1: view image

Paralogs for CYSTM1 Gene

No data available for Paralogs for CYSTM1 Gene

Variants for CYSTM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYSTM1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs17852164 - p.Cys90Ser

Additional dbSNP identifiers (rs#s) for CYSTM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYSTM1 Gene

Variant ID Type Subtype PubMed ID
nsv1117419 CNV tandem duplication 24896259
nsv830507 CNV loss 17160897
nsv950414 CNV duplication 24416366

Variation tolerance for CYSTM1 Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYSTM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYSTM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYSTM1 Gene

Disorders for CYSTM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CYSTM1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CYSTM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYSTM1 Gene

Publications for CYSTM1 Gene

  1. CYSTM, a novel cysteine-rich transmembrane module with a role in stress tolerance across eukaryotes. (PMID: 19933165) Venancio TM … Aravind L (Bioinformatics (Oxford, England) 2010) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. (PMID: 28712724) Vukotic M … Langer T (Molecular cell 2017) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3

Products for CYSTM1 Gene

Sources for CYSTM1 Gene