Aliases for CYB5D1 Gene

Aliases for CYB5D1 Gene

  • Cytochrome B5 Domain Containing 1 2 3 5
  • Cytochrome B5 Domain-Containing Protein 1 3 4

External Ids for CYB5D1 Gene

Previous GeneCards Identifiers for CYB5D1 Gene

  • GC17P007704
  • GC17P007761

Summaries for CYB5D1 Gene

GeneCards Summary for CYB5D1 Gene

CYB5D1 (Cytochrome B5 Domain Containing 1) is a Protein Coding gene. Diseases associated with CYB5D1 include Juxtacortical Osteosarcoma and Peripheral Osteosarcoma. Gene Ontology (GO) annotations related to this gene include heme binding.

Additional gene information for CYB5D1 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 CYB5D1 Gene

Genomics for CYB5D1 Gene

GeneHancer (GH) Regulatory Elements for CYB5D1 Gene

Promoters and enhancers for CYB5D1 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 CYB5D1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYB5D1

Top Transcription factor binding sites by QIAGEN in the CYB5D1 gene promoter:
  • c-Ets-1
  • CBF(2)
  • LCR-F1
  • Lmo2
  • NF-kappaB
  • NF-kappaB1
  • NF-Y
  • Nkx2-5
  • Olf-1
  • Pax-6

Genomic Locations for CYB5D1 Gene

Genomic Locations for CYB5D1 Gene
chr17:7,857,746-7,863,486
(GRCh38/hg38)
Size:
5,741 bases
Orientation:
Plus strand
chr17:7,761,064-7,765,600
(GRCh37/hg19)
Size:
4,537 bases
Orientation:
Plus strand

Genomic View for CYB5D1 Gene

Genes around CYB5D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5D1 Gene

Proteins for CYB5D1 Gene

  • Protein details for CYB5D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P9G0-CB5D1_HUMAN
    Recommended name:
    Cytochrome b5 domain-containing protein 1
    Protein Accession:
    Q6P9G0
    Secondary Accessions:
    • D3DTQ8
    • Q96DM7

    Protein attributes for CYB5D1 Gene

    Size:
    228 amino acids
    Molecular mass:
    26689 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYB5D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5D1 Gene

Post-translational modifications for CYB5D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYB5D1 Gene

No data available for DME Specific Peptides for CYB5D1 Gene

Domains & Families for CYB5D1 Gene

Gene Families for CYB5D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYB5D1 Gene

Blocks:
  • Cytochrome b5
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYB5D1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome b5 domain-containing protein 1 (CB5D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P9G0

UniProtKB/Swiss-Prot:

CB5D1_HUMAN :
  • Belongs to the cytochrome b5 family.
Family:
  • Belongs to the cytochrome b5 family.
genes like me logo Genes that share domains with CYB5D1: view

Function for CYB5D1 Gene

Phenotypes From GWAS Catalog for CYB5D1 Gene

Gene Ontology (GO) - Molecular Function for CYB5D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB5D1: view
genes like me logo Genes that share phenotypes with CYB5D1: view

Animal Models for CYB5D1 Gene

MGI Knock Outs for CYB5D1:
  • Cyb5d1 Cyb5d1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYB5D1 Gene

Localization for CYB5D1 Gene

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 CYB5D1 gene
Compartment Confidence
nucleus 2
golgi apparatus 2
mitochondrion 1
cytosol 0

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CYB5D1 Gene

Pathways & Interactions for CYB5D1 Gene

PathCards logo

SuperPathways for CYB5D1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CYB5D1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CYB5D1 Gene

Drugs & Compounds for CYB5D1 Gene

(1) Drugs for CYB5D1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with CYB5D1: view

Transcripts for CYB5D1 Gene

mRNA/cDNA for CYB5D1 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5D1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: - - - - - -
SP6: -

Relevant External Links for CYB5D1 Gene

GeneLoc Exon Structure for
CYB5D1

Expression for CYB5D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYB5D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYB5D1

SOURCE GeneReport for Unigene cluster for CYB5D1 Gene:

Hs.27475

Evidence on tissue expression from TISSUES for CYB5D1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CYB5D1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5D1 Gene

Orthologs for CYB5D1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYB5D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYB5D1 31
  • 100 (a)
OneToOne
LOC455210 30
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia CYB5D1 31 30
  • 89.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYB5D1 31 30
  • 88.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5d1 30
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Gm6685 31
  • 83 (a)
OneToMany
Cyb5d1 17 31 30
  • 81.87 (n)
oppossum
(Monodelphis domestica)
Mammalia CYB5D1 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5D1 31
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB5D1 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5d1 30
  • 65.56 (n)
zebrafish
(Danio rerio)
Actinopterygii cyb5d1 31 30
  • 65.41 (n)
OneToOne
Dr.17571 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14115 30
fruit fly
(Drosophila melanogaster)
Insecta CG15429 31 30
  • 53.4 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010016 30
  • 44.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
Species where no ortholog for CYB5D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 CYB5D1 Gene

ENSEMBL:
Gene Tree for CYB5D1 (if available)
TreeFam:
Gene Tree for CYB5D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYB5D1: view image

Paralogs for CYB5D1 Gene

No data available for Paralogs for CYB5D1 Gene

Variants for CYB5D1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYB5D1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12453250 - p.Phe20Leu

Additional dbSNP identifiers (rs#s) for CYB5D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYB5D1 Gene

Variant ID Type Subtype PubMed ID
dgv510n67 CNV gain 20364138
nsv833351 CNV loss 17160897

Variation tolerance for CYB5D1 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.43; 88.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB5D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5D1 Gene

Disorders for CYB5D1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYB5D1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
juxtacortical osteosarcoma
  • parosteal osteogenic sarcoma
peripheral osteosarcoma
  • surface osteosarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYB5D1

genes like me logo Genes that share disorders with CYB5D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYB5D1 Gene

Publications for CYB5D1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 54
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54

Products for CYB5D1 Gene

Sources for CYB5D1 Gene