CCDC90A Gene
protein-coding GIFtS: 40
GCID: GC06M013791
|
|
coiled-coil domain containing 90A(Previous name: chromosome 6 open reading frame 79 )
(Previous symbol: C6orf79)
| |
Aliases
for CCDC90A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Coiled-Coil Domain Containing 90A1 2 | | Chromosome 6 Open Reading Frame 791 | | C6orf791 2 3 | | Mitochondrial Calcium Uniporter Regulator 12 | | Coiled-Coil Domain-Containing Protein 90A, Mitochondrial2 3 | | MCUR13 | | FLJ209581 | | |
Export aliases for CCDC90A gene to outside databasesPrevious GC identifer: GC06M013900 |
Summaries
for CCDC90A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: MCUR1_HUMAN, Q96AQ8Function: Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion. Plays adirect role in uniporter-mediated calcium uptake, possibly via a direct interaction with MCU
|
Genomic Views
for CCDC90A 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_000006.11 NC_018917.1 NT_007592.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CCDC90A gene promoter:
Egr-3 Pax-5 E4BP4 NF-AT NF-AT4 NF-AT2 NF-AT3 Pax-4a NF-AT1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CCDC90A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC90A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p23 Ensembl cytogenetic band: 6p23 HGNC cytogenetic band: 6p23CCDC90A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M013791: view genomic region
(about GC identifiers)
Start:
|
13,791,020 bp from pter |
End:
|
13,814,800 bp from pter |
Size:
|
23,781 bases |
Orientation:
|
minus strand |
|
Proteins
for CCDC90A 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: MCUR1_HUMAN, Q96AQ8 (See
protein sequence)Recommended Name: Mitochondrial calcium uniporter regulator 1 Size: 359 amino acids; 39694 Da
Subunit: Interacts with MCU
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: Q96JS7 Q9H7F8Alternative splicing: 2 isoforms: Q96AQ8-1 Q96AQ8-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CCDC90A: NX_Q96AQ8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96AQ8
CCDC90A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001026883.1
ENSEMBL proteins: ENSP00000368468 ENSP00000352475
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
-- | -- | | GO:0016021 | integral to membrane |
-- | -- | | GO:0031305 | integral to mitochondrial inner membrane |
IDA | -- |
CCDC90A for ontologies About GeneDecksing
CCDC90A Antibody Products:
Assay Products for CCDC90A: |
Protein
Domains /
Families
for CCDC90A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CCDC90A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96AQ8ProtoNet protein and cluster: Q96AQ8 1 Blocks protein family: IPB012439 Protein of unknown function DUF1640
UniProtKB/Swiss-Prot: MCUR1_HUMAN, Q96AQ8Similarity: Belongs to the CCDC90 family |
Function
for CCDC90A 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
|
Function Summary:
UniProtKB/Swiss-Prot: MCUR1_HUMAN, Q96AQ8Function: Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion. Plays adirect role in uniporter-mediated calcium uptake, possibly via a direct interaction with MCU
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC90A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for CCDC90A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC90A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC90A |
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 |
IPI | -- |
CCDC90A for ontologies About GeneDecksing
|
Pathways & Interactions
for CCDC90A 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 CCDC90A
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006851 | mitochondrial calcium ion transport |
IMP | -- | | GO:0051561 | elevation of mitochondrial calcium ion concentration |
IMP | -- | | GO:0070509 | calcium ion import |
IMP | -- |
CCDC90A for ontologies About GeneDecksing
|
Drugs & Compounds
for CCDC90A 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 CCDC90A
Search CenterWatch for drugs/clinical trials and news about CCDC90A / MCUR1
|
Transcripts
for CCDC90A 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 CCDC90A gene (2 alternative transcripts): NM_022102.1 NM_001031713.3 Unigene Cluster for CCDC90A: Coiled-coil domain containing 90A Hs.214043 [show with all ESTs]Unigene Representative Sequence: NM_0010317133 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000379170(uc003nbc.2) ENST00000488770(uc010jpf.3) ENST00000359495
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC90A (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC90A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for CCDC90A | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC90A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC90A |
Additional cDNA sequence: AK026843.1 AK123750.1 BC008234.1 BC016850.1 BX640678.1 8 DOTS entries: DT.410790 DT.87015772 DT.100763196 DT.95147975 DT.100707247 DT.95374349 DT.99998593 DT.97848030 24/111 AceView cDNA sequences (see all 111): BQ440064 CK825518 BQ639591 W39762 BE217798 BC016850 AI985420 BM471849 BG674768 BE466132 BG163607 BX280693 BM678103 BQ433879 BU620569 AA825405 BU527533 BE218279 BQ286356 BM842849 BM831628 BQ948311 BX640678 BU174838
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC90A About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|
|
| SP1: | | | - | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CCDC90A
|
Expression
for CCDC90A 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
| CCDC90A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CCDC90A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC90A
SOURCE GeneReport for Unigene cluster: Hs.214043
UniProtKB/Swiss-Prot: MCUR1_HUMAN, Q96AQ8Tissue specificity: Ubiquitously expressed
SABiosciences Custom PCR Arrays for CCDC90A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC90A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCDC90A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC90A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC90A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC90A |
Orthologs
for CCDC90A 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 CCDC90A gene from 8/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ccdc90a1 , 5 |
coiled-coil domain containing 90A1, 5 |
77.11(n)1
75.9(a)1 |
|
13 (21.60 cM)5
761371 NM_001081059.31 NP_001074528.11
435384125 |
chicken
(Gallus gallus) |
Aves |
CCDC90A1 |
coiled-coil domain containing 90A |
68.35(n)
67.44(a) |
|
420837 XM_418928.3 XP_418928.1 |
lizard
(Anolis carolinensis) |
Reptilia |
CCDC90A6 |
-- |
76(a) |
1 ↔ 1 |
4(57165424-57176355) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.193152 |
Xenopus laevis transcribed sequence with weak similarity more |
76(n) |
|
CA792747.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufb37a052 |
Transcribed sequence with weak similarity to protein more |
75.51(n) |
|
57037484 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
FMP32(YFL046W)4
FMP321 |
Putative protein of unknown function; the authentic, more4
Fmp32p1 |
44.44(n)1
27.88(a)1 |
|
6(42815-43438)4
8504981, 4 NP_116608.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G164601 |
hypothetical protein |
46.38(n)
29.89(a) |
|
816144 NM_127199.3 NP_565388.1 |
rice
(Oryza sativa) |
Liliopsida |
Os06g07131001 |
hypothetical protein |
46.98(n)
33.33(a) |
|
4342051 NM_001065099.1 NP_001058564.1 |
ENSEMBL Gene Tree for CCDC90A (if available)
TreeFam Gene Tree for CCDC90A (if available) |
Paralogs
for CCDC90A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CCDC90A gene
- CCDC90B2
CCDC90A for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for CCDC90A
PGOHUM00000236900 PGOHUM00000237852
|
Genomic Variants
for CCDC90A 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 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CCDC90A (13791020 - 13814800 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CCDC90A
1 CNV: 6479 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC90A |
|
Disorders
/ Diseases
for CCDC90A 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
|
 CCDC90A for disorders About MalaCards
CCDC90A for disorders About GeneDecksing
Human Genome Epidemiology (HuGE) Navigator: CCDC90A (1 document)
Export disorders for CCDC90A gene to outside databases
|
Publications
for CCDC90A 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 CCDC90A gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC90A) | |  | 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)
- MCUR1 is an essential component of mitochondrial Ca(2+) uptake that regulates cellular metabolism. (PubMed id 23178883)2 Mallilankaraman K.... Madesh M. (2012)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
- 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)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (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 CCDC90A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CCDC90A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CCDC90A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CCDC90A 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 CCDC90A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CCDC90A gene:
Search GeneIP for patents involving CCDC90A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CCDC90A 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
|
 | |
 | |
 |
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 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC90A |
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