CASD1 Gene
protein-coding GIFtS: 45
GCID: GC07P094139
|
|
CAS1 domain containing 1
| |
Aliases
for CASD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| CAS1 Domain Containing 11 2 | | NBLA041962 | | C7orf121 2 3 5 | | O-Acetyltransferase1 | | FLJ212131 | | WUGSC:H_GS542D18.22 | | FLJ218791 | | CAS1 Domain-Containing Protein 12 |
Export aliases for CASD1 gene to outside databasesPrevious GC identifers: GC07P093977 GC07P088746 |
Summaries
for CASD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for CASD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for CASD1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CASD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASD1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q22CASD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07P094139: view genomic region
(about GC identifiers)
Start:
|
94,138,531 bp from pter |
End:
|
94,186,331 bp from pter |
Size:
|
47,801 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 93,468,325-93,515,486 |
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Proteins
for CASD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CASD1_HUMAN, Q96PB1 (See
protein sequence)Recommended Name: CAS1 domain-containing protein 1 precursor Size: 797 amino acids; 91680 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAB69978.1; Type=Erroneous gene model prediction; Sequence=BAB15028.1; Type=Frameshift;Positions=780; Sequence=BAB15163.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAB15163.1; Type=Frameshift; Positions=543;
Secondary accessions: B3KW13 O14574 Q3LIE2 Q6P4R4 Q9H6T9 Q9H770Explore the universe of human proteins at neXtProt for CASD1: NX_Q96PB1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96PB1
CASD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_075051.4
ENSEMBL proteins: ENSP00000396261 ENSP00000297273 ENSP00000389718 ENSP00000402708
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
CASD1 for ontologies About GeneDecksing
CASD1 Antibody Products:
Assay Products for CASD1: |
Protein
Domains /
Families
for CASD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CASD1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96PB1ProtoNet protein and cluster: Q96PB1 1 Blocks protein family: IPB012419 Cas1p-like
UniProtKB/Swiss-Prot: CASD1_HUMAN, Q96PB1Similarity: Belongs to the CASD1 family |
Function
for CASD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASD1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASD1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CASD1 (NM_022900) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CASD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASD1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- |
CASD1 for ontologies About GeneDecksing
|
Pathways & Interactions
for CASD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CASD1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/14 Interacting proteins for CASD1 (ENSP000002972734) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
|
Drugs & Compounds
for CASD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CASD1
Search CenterWatch for drugs/clinical trials and news about CASD1
|
Transcripts
for CASD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CASD1 gene: NM_022900.4 Unigene Cluster for CASD1: CAS1 domain containing 1 Hs.260041 [show with all ESTs]Unigene Representative Sequence: NM_0229006 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000447923 ENST00000297273(uc003unh.2 uc003uni.4 uc003unj.4)
ENST00000443644 ENST00000417387 ENST00000471944 ENST00000489196
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASD1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASD1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CASD1 (NM_022900) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CASD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASD1 |
Additional cDNA sequence: AB073397.1 AF355594.1 AF397424.2 AK024866.1 AK025532.1 AK123866.1 AK123895.1 AK314329.1 BC029543.1 BC050313.1 BC063284.1 17 DOTS entries: DT.205751 DT.100693239 DT.99950269 DT.100783186 DT.101983733 DT.100783185 DT.121064700 DT.204161 DT.432293 DT.97790038 DT.97826978 DT.121064720 DT.121064766 DT.40280556 DT.92382293 DT.97780783 DT.99962387 24/48 AceView cDNA sequences (see all 48): AI922551 AI351608 AW299791 BQ004398 AK123895 AA906339 AL138212 BM857436 BM739820 AV682705 AL712889 CD511599 AI222215 BX110691 AI968151 CA445988 BM857551 BI760512 CK824125 BX498458 AI765985 AA969799 AA325212 AI685219
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CASD1 (see all 9) About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ |
|---|
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| SP1: | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19 | ^ | 20 |
|---|
|
| SP1: | | | | | |
| SP2: | | | | | |
| SP3: | | | | | |
| SP4: | | | | | |
| SP5: | | | | |
ECgene alternative splicing isoforms for CASD1
|
Expression
for CASD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CASD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGTTGTTA
About this image
See CASD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASD1
SOURCE GeneReport for Unigene cluster: Hs.260041
SABiosciences Custom PCR Arrays for CASD1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CASD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASD1 |
Orthologs
for CASD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for CASD1 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for CASD1 (if available)
TreeFam Gene Tree for CASD1 (if available) |
Paralogs
for CASD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CASD1 gene
1 SIMAP similar gene for CASD1 using alignment to 4 protein entries: CASD1_HUMAN (see all proteins):CAS1
CASD1 for paralogs About GeneDecksing
3 Pseudogenes.org Pseudogenes for CASD1
PGOHUM00000260460 PGOHUM00000260501 PGOHUM00000236475
|
Genomic Variants
for CASD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CASD1 (94138531 - 94186331 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CASD1
1 CNV: 5243 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASD1 |
|
Disorders
/ Diseases
for CASD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CASD1 for disorders About GeneDecksing
OMIM gene information: 611686
OMIM disorders: --
6  diseases for CASD1: About MalaCardsmyoclonus-dystonia brachydactyly-syndactyly syndrome myoclonus syndactyly
brachydactyly neuroblastoma
Export disorders for CASD1 gene to outside databases
|
Publications
for CASD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CASD1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with CASD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (PubMed id 11528394)1, 3 Zimprich A....Gasser T. (2001)
- Cas1p is a membrane protein necessary for the O-acetylation of the Cryptococcus neoformans capsular polysaccharide. (PubMed id 11703667)1, 3 Janbon G.... Dromer F. (2001)
- The human Cas1 protein: a sialic acid-specific O-acet yltransferase? (PubMed id 20947662)1 Arming S....Vlasak R. (2011)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)2 Scherer S.W.... Tsui L.-C. (2003)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
- Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma. (PubMed id 12880961)2 Ohira M.... Nakagawara A. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for CASD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CASD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CASD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CASD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CASD1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CASD1 gene:
Search GeneIP for patents involving CASD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CASD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CASD1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASD1 | | | OriGene Protein Over-expression Lysate for CASD1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CASD1 | | OriGene 3'-UTR Clone for CASD1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASD1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CASD1 | | OriGene Custom Protein Services for CASD1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CASD1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASD1 |
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 |  |  |  | |
| | | | Search Tocris compounds for CASD1 |
| |  |  |  |  | | | | |
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 | | | CASD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASD1 |
|  |  |  | | | | Search ThermoFisher Antibodies for CASD1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASD1 |
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