Aliases for CYHR1 Gene

Aliases for CYHR1 Gene

  • Cysteine And Histidine Rich 1 2 3 5
  • Cysteine And Histidine-Rich Protein 1 3 4
  • Cysteine/Histidine-Rich 1 2 3
  • KIAA0496 2 4
  • CHRP 2 3
  • Cysteine And Histidine Rich Protein 3
  • MGC13010 2
  • CYHR1 5

External Ids for CYHR1 Gene

Previous GeneCards Identifiers for CYHR1 Gene

  • GC08U990106
  • GC08M145646
  • GC08M145660
  • GC08M140788
  • GC08M145674
  • GC08M144450

Summaries for CYHR1 Gene

GeneCards Summary for CYHR1 Gene

CYHR1 (Cysteine And Histidine Rich 1) is a Protein Coding gene. Diseases associated with CYHR1 include Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome and Schizotypal Personality Disorder.

Additional gene information for CYHR1 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 CYHR1 Gene

Genomics for CYHR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYHR1 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
GH08J144461 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.2 1217 7.8 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 TFE3 IKZF1 KDM1A CYHR1 ENSG00000254578 KIFC2 MIR10400 lnc-FOXH1-1 ZNF7 CPSF1 VPS28 ZNF623 PPP1R16A
GH08J143514 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.3 +947.1 947107 7.4 HNRNPL GATAD2A ATF7 PRDM10 TFE3 NFKBIZ ZNF692 RCOR2 ZIC2 ZSCAN4 ENSG00000254859 GSDMD CPSF1 CYHR1 ZNF707 SHARPIN TOP1MT NAPRT ZC3H3 ENSG00000253931
GH08J144455 Enhancer 1 ENCODE 11.7 +9.3 9255 1.6 HNRNPL CREB1 ATF7 ZNF629 LEF1 IKZF1 KDM1A ZNF692 POLR2A ZNF174 lnc-TONSL-3 ZNF251 ZNF7 ZNF623 LRRC14 ZNF250 CPSF1 ZNF16 VPS28 ZNF517
GH08J143669 Enhancer 0.9 Ensembl 11.3 +796.2 796170 0.9 ZBTB33 ARID3A IKZF1 TARDBP ZNF143 PHB2 RFX1 ZNF776 MTA1 ZNF311 CPSF1 ZNF623 JRK ZNF696 VPS28 ZFP41 MINCR TSSK5P ENSG00000255182 ZNF707
GH08J144334 Enhancer 0.8 FANTOM5 1.3 +130.5 130462 0.6 ZBTB33 PRDM10 ZSCAN4 POLR2A REST EZH2 SCRT2 MNT ZNF524 USF1 SCRT1 KIFC2 LRRC24 ZNF252P ZNF34 ZNF517 CYHR1 DGAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYHR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYHR1

Top Transcription factor binding sites by QIAGEN in the CYHR1 gene promoter:
  • Sp1

Genomic Locations for CYHR1 Gene

Genomic Locations for CYHR1 Gene
chr8:144,449,582-144,465,701
(GRCh38/hg38)
Size:
16,120 bases
Orientation:
Minus strand
chr8:145,674,965-145,691,060
(GRCh37/hg19)
Size:
16,096 bases
Orientation:
Minus strand

Genomic View for CYHR1 Gene

Genes around CYHR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYHR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYHR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYHR1 Gene

Proteins for CYHR1 Gene

  • Protein details for CYHR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMK1-CYHR1_HUMAN
    Recommended name:
    Cysteine and histidine-rich protein 1
    Protein Accession:
    Q6ZMK1
    Secondary Accessions:
    • B3KSX0
    • D3DWM3
    • Q9BSF6
    • Q9BSU6

    Protein attributes for CYHR1 Gene

    Size:
    362 amino acids
    Molecular mass:
    40703 Da
    Quaternary structure:
    • Interacts with LGALS3.
    SequenceCaution:
    • Sequence=BAD18724.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CYHR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYHR1 Gene

Post-translational modifications for CYHR1 Gene

  • Ubiquitination at Lys104, Lys292, and Lys349
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CYHR1 Gene

Domains & Families for CYHR1 Gene

Gene Families for CYHR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYHR1 Gene

Suggested Antigen Peptide Sequences for CYHR1 Gene

GenScript: Design optimal peptide antigens:
  • Cysteine and histidine-rich protein 1 (CYHR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZMK1

UniProtKB/Swiss-Prot:

CYHR1_HUMAN :
  • Belongs to the CYHR1 family.
Family:
  • Belongs to the CYHR1 family.
genes like me logo Genes that share domains with CYHR1: view

Function for CYHR1 Gene

Phenotypes From GWAS Catalog for CYHR1 Gene

Gene Ontology (GO) - Molecular Function for CYHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYHR1: view
genes like me logo Genes that share phenotypes with CYHR1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYHR1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CYHR1 Gene

Localization for CYHR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYHR1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Note=Shows a prominent perinuclear and cytoplasmic localization. {ECO:0000250}.

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 CYHR1 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 1
cytoskeleton 1
cytosol 1
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with CYHR1: view

Pathways & Interactions for CYHR1 Gene

PathCards logo

SuperPathways for CYHR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CYHR1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CYHR1 Gene

Drugs & Compounds for CYHR1 Gene

No Compound Related Data Available

Transcripts for CYHR1 Gene

mRNA/cDNA for CYHR1 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 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 CYHR1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYHR1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - - - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - - - - -
SP5: - -
SP6: -
SP7:
SP8: -
SP9:
SP10:
SP11: -

Relevant External Links for CYHR1 Gene

GeneLoc Exon Structure for
CYHR1

Expression for CYHR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYHR1 Gene

Protein differential expression in normal tissues from HIPED for CYHR1 Gene

This gene is overexpressed in Testis (13.6), Fetal Brain (9.7), Retina (8.6), Fetal ovary (6.4), and Islet of Langerhans (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYHR1 Gene



Protein tissue co-expression partners for CYHR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYHR1

SOURCE GeneReport for Unigene cluster for CYHR1 Gene:

Hs.459379

Evidence on tissue expression from TISSUES for CYHR1 Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Spleen(4.2)
  • Skin(2.5)
genes like me logo Genes that share expression patterns with CYHR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYHR1 Gene

Orthologs for CYHR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYHR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYHR1 30 31
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYHR1 30 31
  • 93.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYHR1 30 31
  • 91.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYHR1 31
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CYHR1 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyhr1 30 17 31
  • 89.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyhr1 30
  • 85.97 (n)
Lizard
(Anolis carolinensis)
Reptilia CYHR1 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101735269 30
  • 82.63 (n)
Zebrafish
(Danio rerio)
Actinopterygii cyhr1 30 31
  • 78.61 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG32486 30 31
  • 58.59 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002264 30
  • 58.25 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8507 31
  • 44 (a)
OneToOne
Species where no ortholog for CYHR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CYHR1 Gene

ENSEMBL:
Gene Tree for CYHR1 (if available)
TreeFam:
Gene Tree for CYHR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYHR1: view image

Paralogs for CYHR1 Gene

No data available for Paralogs for CYHR1 Gene

Variants for CYHR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYHR1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs752345868 Uncertain Significance: Autosomal recessive non-syndromic intellectual disability 144,464,447(-) G/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CYHR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYHR1 Gene

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
dgv12438n54 CNV loss 21841781
dgv12439n54 CNV loss 21841781
dgv12440n54 CNV loss 21841781
dgv3934n106 CNV deletion 24896259
dgv907n27 CNV loss 19166990
esv1003467 CNV deletion 20482838
esv26548 CNV gain 19812545
esv2759652 CNV gain+loss 17122850
esv29999 CNV loss 17803354
nsv1077078 CNV deletion 25765185
nsv1077079 CNV deletion 25765185
nsv1144242 CNV deletion 24896259
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612935 CNV loss 21841781
nsv612936 CNV loss 21841781
nsv612940 CNV loss 21841781
nsv612946 CNV loss 21841781
nsv612947 CNV loss 21841781
nsv831489 CNV loss 17160897

Variation tolerance for CYHR1 Gene

Gene Damage Index Score: 0.38; 8.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYHR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYHR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYHR1 Gene

Disorders for CYHR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CYHR1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CYHR1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CYHR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYHR1 Gene

Publications for CYHR1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Interaction of a novel cysteine and histidine-rich cytoplasmic protein with galectin-3 in a carbohydrate-independent manner. (PMID: 10745073) Menon RP … Hughes RC (FEBS letters 2000) 2 3
  3. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. (PMID: 30759391) Kumar S … Einav S (Cell reports 2019) 3

Products for CYHR1 Gene

  • Signalway ELISA kits for CYHR1

Sources for CYHR1 Gene