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The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010] See more...
Aliases for HCCS Gene
Aliases for HCCS Gene
External Ids for HCCS Gene
- HGNC: 4837
- NCBI Entrez Gene: 3052
- Ensembl: ENSG00000004961
- OMIM®: 300056
- UniProtKB/Swiss-Prot: P53701
Previous HGNC Symbols for HCCS Gene
- MLS
Previous GeneCards Identifiers for HCCS Gene
- GC0XP010108
- GC0XP009895
- GC0XP010425
- GC0XP010490
- GC0XP010889
- GC0XP011039
- GC0XP008910
- GC0XP011129
Summaries for HCCS Gene
-
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
GeneCards Summary for HCCS Gene
HCCS (Holocytochrome C Synthase) is a Protein Coding gene. Diseases associated with HCCS include Linear Skin Defects With Multiple Congenital Anomalies 1 and Sclerocornea. Among its related pathways are Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include holocytochrome-c synthase activity.
UniProtKB/Swiss-Prot Summary for HCCS Gene
-
Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome.
Additional gene information for HCCS Gene
- HGNC (4837)
- NCBI Entrez Gene (3052)
- Ensembl (ENSG00000004961)
- OMIM® (300056)
- UniProtKB/Swiss-Prot (P53701)
- Open Targets Platform(ENSG00000004961)
- Monarch Initiative
- Search for HCCS at DataMed
- Search for HCCS at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HCCS Gene
Genomics for HCCS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HCCS 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 HCCS on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HCCS
- Top Transcription factor binding sites by QIAGEN in the HCCS gene promoter:
-
- aMEF-2
- AREB6
- FOXD3
- GATA-6
- HNF-3beta
- MEF-2A
- POU2F1
- POU2F1a
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for HCCS Gene
Latest Assembly
- chrX:11,111,301-11,123,086
- (GRCh38/hg38)
- Size:
- 11,786 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:11,129,452-11,141,206
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 11,755 bases
- Orientation:
- Plus strand
- chrX:11,129,421-11,141,198
- (GRCh37/hg19 by Ensembl)
- Size:
- 11,778 bases
- Orientation:
- Plus strand
Genomic View for HCCS Gene
Genes around HCCS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
HCCS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HCCS Gene
Proteins for HCCS Gene
-
Protein details for HCCS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P53701-CCHL_HUMAN
- Recommended name:
- Holocytochrome c-type synthase
- Protein Accession:
- P53701
- B3KUS1
- Q502X8
Protein attributes for HCCS Gene
- Size:
- 268 amino acids
- Molecular mass:
- 30602 Da
- Quaternary structure:
- No Data Available
Protein Expression for HCCS Gene
Selected DME Specific Peptides for HCCS Gene
- P53701:
-
- IHNQNNEQAWKEILKWEALHA
- PFDRHDW
- ECPCGPSL
- QMFWNAML
Post-translational modifications for HCCS Gene
Other Protein References for HCCS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences HCCS Antibody
- G Biosciences Immunotag™ Cytochrome c-type Heme Lyase Antibody
-
Custom Antibody ServicesOriGene Antibodies for HCCS
- Novus Biologicals Antibodies for HCCS
- Invitrogen Antibodies for HCCS (AFLGC-HCCS)
-
Boster Bio Antibodies for HCCS
-
Custom Antibody ServicesProSci Antibodies for HCCS
Protein products for research
-
OriGene Purified Proteins for HCCS
- Search Origene for MassSpec and Protein Over-expression Lysates for HCCS
- Origene Custom Protein Services for HCCS
- antibodies-online: Show 8 available HCCS Proteins ranked by validation data
- Compare Top HCCS Proteins
-
Quality Products:
-
Abcam proteins for HCCS
Assay products for research
- G Biosciences Immunotag™ Human HCCS (Holocytochrome C Synthase) ELISA
- antibodies-online: Show 24 available HCCS Elisa Kits ranked by validation data
- Compare Top HCCS Elisa Kits
-
Quality Products:
Domains & Families for HCCS Gene
Gene Families for HCCS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for HCCS Gene
- InterPro:
- Blocks:
-
- Cytochrome c and c1 heme-lyase
- ProtoNet:
Suggested Antigen Peptide Sequences for HCCS Gene
- GenScript: Design optimal peptide antigens:
-
- Holocytochrome c-type synthase (CCHL_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P53701- Family:
-
- Belongs to the cytochrome c-type heme lyase family.
Function for HCCS Gene
Molecular function for HCCS Gene
- UniProtKB/Swiss-Prot Function:
- Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=holo-[cytochrome c] = apo-[cytochrome c] + heme b; Xref=Rhea:RHEA:22648, Rhea:RHEA-COMP:10725, Rhea:RHEA-COMP:10726, ChEBI:CHEBI:29950, ChEBI:CHEBI:60344, ChEBI:CHEBI:83739; EC=4.4.1.17; Evidence={ECO:0000269|PubMed:23150584};.
- GENATLAS Biochemistry:
- holocytochrome C-type synthetase,putatively involved in electron transport pathway
Enzyme Numbers (IUBMB) for HCCS Gene
Phenotypes From GWAS Catalog for HCCS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004408 | holocytochrome-c synthase activity | TAS,IDA | 23150584 |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0016829 | lyase activity | IEA | -- |
| GO:0020037 | heme binding | IDA | 23150584 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for HCCS Gene
- MGI mutant phenotypes for HCCS:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HCCS:
-
- no effect
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased shRNA abundance (Z-score > 2)
- shRNA abundance <= 25%
- Decreased viability in ovarian lineage
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Decreased shRNA abundance
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Increased shRNA abundance
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HCCS - Starting at $85 >
- * HCCS CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HCCS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HCCS
-
Santa Cruz Biotechnology (SCBT) CRISPR for HCCS
miRNA for HCCS Gene
- miRTarBase miRNAs that target HCCS
-
- hsa-miR-130b-3p (MIRT020136)
- hsa-miR-122-5p (MIRT023250)
- hsa-miR-148a-3p (MIRT025988)
- hsa-miR-93-5p (MIRT027992)
- hsa-miR-4524b-3p (MIRT124918)
- hsa-miR-4668-5p (MIRT229100)
- hsa-miR-3613-3p (MIRT530059)
- mmu-miR-3087-3p (MIRT589880)
- mmu-miR-3470b (MIRT589881)
- mmu-miR-3099-3p (MIRT589882)
- mmu-miR-290a-5p (MIRT589883)
- mmu-miR-292a-5p (MIRT589884)
- hsa-miR-1252-5p (MIRT761627)
- hsa-miR-148b-3p (MIRT762757)
- hsa-miR-152-3p (MIRT762889)
- hsa-miR-153-3p (MIRT762900)
- hsa-miR-3148 (MIRT765011)
- hsa-miR-3609 (MIRT765866)
- hsa-miR-3616-5p (MIRT766089)
- hsa-miR-362-5p (MIRT766175)
- hsa-miR-4635 (MIRT770510)
- hsa-miR-4670-3p (MIRT770876)
- hsa-miR-500b-5p (MIRT773003)
- hsa-miR-501-5p (MIRT773017)
- hsa-miR-548ah-5p (MIRT774103)
- hsa-miR-548az-5p (MIRT774267)
- hsa-miR-548t-5p (MIRT774540)
- hsa-miR-5591-3p (MIRT774874)
- hsa-miR-573 (MIRT775261)
- hsa-miR-595 (MIRT775391)
- hsa-miR-651-3p (MIRT777023)
- hsa-miR-6882-5p (MIRT780883)
- hsa-miR-8070 (MIRT782364)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HCCS
- Browse OriGene Inhibitory RNA Products For HCCS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HCCS
Clone products for research
- Applied Biological Materials (abm): Clones for HCCS - Starting at $45 >
- * HCCS as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HCCS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HCCS
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HCCS Gene
Localization for HCCS Gene
Subcellular locations from UniProtKB/Swiss-Prot for HCCS Gene
- Mitochondrion inner membrane. Membrane. Lipid-anchor.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA,IDA | 11827457 |
| GO:0005743 | mitochondrial inner membrane | TAS,IEA | -- |
| GO:0016020 | membrane | IEA,IDA | 23150584 |
Pathways & Interactions for HCCS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Porphyrin and chlorophyll metabolism | ||
Pathways by source for HCCS Gene
1 KEGG pathway for HCCS Gene
Interacting Proteins for HCCS Gene
Selected Interacting proteins:
P53701-CCHL_HUMAN
ENSP00000326579
for HCCS Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HCCS
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009887 | animal organ morphogenesis | TAS | 8661044 |
| GO:0018063 | cytochrome c-heme linkage | IDA | 23150584 |
| GO:0018215 | protein phosphopantetheinylation | IEA | -- |
| GO:0055114 | oxidation-reduction process | TAS | -- |
No data available for SIGNOR curated interactions for HCCS Gene
Drugs & Compounds for HCCS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| heme | Pharma | 0 |
Transcripts for HCCS Gene
mRNA/cDNA for HCCS Gene
- 3 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000321143 2277 nts (view in UCSC)
- ENST00000380762 2312 nts (view in UCSC)
- ENST00000380763 1000 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HCCS - Starting at $85 >
- * HCCS CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HCCS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HCCS
-
Santa Cruz Biotechnology (SCBT) CRISPR for HCCS
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HCCS
- Browse OriGene Inhibitory RNA Products For HCCS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HCCS
Clone products for research
- Applied Biological Materials (abm): Clones for HCCS - Starting at $45 >
- * HCCS as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HCCS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HCCS
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||
| SP5: |
Relevant External Links for HCCS Gene
- GeneLoc Exon Structure for
- HCCS
Expression for HCCS Gene
This gene is overexpressed in Bone (43.6) and Breast (16.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HCCS Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HCCS
SOURCE GeneReport for Unigene cluster for HCCS Gene:
Hs.211571Evidence on tissue expression from TISSUES for HCCS Gene
- Nervous system(4.6)
- Spleen(2.8)
- Blood(2.6)
- Heart(2.4)
- Lymph node(2.3)
- Liver(2.2)
- Bone marrow(2.2)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HCCS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- face
- head
- jaw
- lacrimal apparatus
- mandible
- maxilla
- meninges
- mouth
- nose
- scalp
- skull
Thorax:
- aorta
- chest wall
- diaphragm
- heart
- heart valve
- lung
Abdomen:
- abdominal wall
- intestine
- large intestine
- liver
- small intestine
- stomach
Pelvis:
- anus
- ovary
- penis
- rectum
- testicle
- urethra
- uterus
- vagina
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
Primer products for research
-
OriGene qPCR primer pairs for HCCS
-
OriGene qPCR primer pairs and template standards for HCCS
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HCCS Gene
Orthologs for HCCS Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HCCS 31 |
|
OneToOne | |
| LOC465489 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | HCCS 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hccs 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Hccs 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HCCS 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HCCS 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HCCS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HCCS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HCCS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hccs 30 |
|
||
| Str.5948 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hccs-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hccs 30 31 |
|
OneToMany | |
| hccsa 31 |
|
OneToMany | |||
| hccsal 31 |
|
OneToMany | |||
| Dr.4423 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12440 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6022 32 |
|
|
|
| Cchl 31 |
|
OneToOne | |||
| Worm (Caenorhabditis elegans) |
Secernentea | T06D8.6 32 |
|
|
|
| cchl-1 31 |
|
OneToOne | |||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F25894g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CYT2 30 31 |
|
OneToOne | |
| CYC3 33 33 33 |
|
|
|||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR154W 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC24C9.02c 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4216 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08138 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4806 30 |
|
- Species where no ortholog for HCCS was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- 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)
Evolution for HCCS Gene
- ENSEMBL:
- Gene Tree for HCCS (if available)
- TreeFam:
- Gene Tree for HCCS (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HCCS: view image
Paralogs for HCCS Gene
(1) SIMAP similar genes for HCCS Gene using alignment to 1 proteins:
- CCHL_HUMAN
No data available for Paralogs for HCCS Gene
Variants for HCCS Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HCCS Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 987889 | Likely Pathogenic: Linear skin defects with multiple congenital anomalies 1 | 11,117,320(+) |
T/TGTA NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup) |
INFRAME_INSERTION | |
| rs121917888 | Pathogenic: Linear skin defects with multiple congenital anomalies 1 | 11,120,974(+) |
C/T NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) |
NONSENSE | |
| rs121917889 | Pathogenic: Linear skin defects with multiple congenital anomalies 1. Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801] | 11,121,652(+) |
C/Tp.Arg217Cys NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) |
MISSENSE | |
| rs138058070 | Benign: not provided | 11,114,923(+) |
C/T NM_005333.5(HCCS):c.189C>T (p.Tyr63=) |
SYNONYMOUS | |
| rs1413276234 | Uncertain Significance: Linear skin defects with multiple congenital anomalies 1 | 11,114,933(+) |
C/A NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.60;
12.87% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HCCS Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HCCS Gene
Disorders for HCCS Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| linear skin defects with multiple congenital anomalies 1 |
|
|
| sclerocornea |
|
|
| microphthalmia |
|
|
| microphthalmia, syndromic 13 |
|
|
| orbital cyst |
|
|
Search HCCS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CCHL_HUMAN- Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801]: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, mental retardation, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269 PubMed:17033964}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for HCCS
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for HCCS Gene
Publications for HCCS Gene
- Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. (PMID: 17033964) Wimplinger I … Kutsche K (American journal of human genetics 2006) 3 4 23 74
- Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. (PMID: 9674913) Van den Veyver IB … Zoghbi HY (American journal of medical genetics 1998) 3 4 23
- Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). (PMID: 8661044) Schaefer L … Zoghbi HY (Genomics 1996) 3 4 23
- Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c. (PMID: 23150584) San Francisco B … Kranz RG (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
- A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 41
ExternalLinks
Products for HCCS Gene
- Custom Antibody ServicesOriGene Antibodies for HCCS
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HCCS
- Search Origene for MassSpec and Protein Over-expression Lysates for HCCS
- Origene Custom Protein Services for HCCS
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HCCS
- Browse OriGene Inhibitory RNA Products For HCCS
- OriGene qPCR primer pairs for HCCS
- OriGene qPCR primer pairs and template standards for HCCS
- OriGene CRISPR knockouts for HCCS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HCCS
- Sino Biological Human cDNA Clone for HCCS
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- Novus Biologicals Antibodies for HCCS
- Novus Biologicals proteins and lysates for HCCS
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- Invitrogen Antibodies for HCCS (AFLGC-HCCS)
- VectorBuilder Custom and pre-made DNA vectors for HCCS (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder CRISPR vectors for HCCS (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HCCS CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HCCS
- antibodies-online: Show 29 available HCCS Antibodies ranked by validation data
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- antibodies-online: Show 24 available HCCS Elisa Kits ranked by validation data
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- antibodies-online: Show 8 available HCCS Proteins ranked by validation data
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HCCS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HCCS
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HCCS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HCCS
- Boster Bio Antibodies for HCCS
- Browse Boster Bio ELISA Kits
Sources for HCCS Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
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- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
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- (114) NINDS
- (115) NCBI Bookshelf
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- (117) Gene Damage Index
- (118) HPO
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- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB