R3HCC1L Gene
protein-coding GIFtS: 38
GCID: GC10P099894
|
|
R3H domain and coiled-coil containing 1-like(Previous name: chromosome 10 open reading frame 28 )
(Previous symbol: C10orf28)
| |
Aliases
for R3HCC1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| R3H Domain And Coiled-Coil Containing 1-Like1 2 | | Putative Mitochondrial Space Protein 32.12 3 | | C10orf281 2 3 | | GIDRP882 3 | | GIDRP861 2 | | Chromosome 10 Open Reading Frame 281 | | PSORT1 2 | | Growth Inhibition And Differentiation Related Protein 862 | | Growth Inhibition And Differentiation-Related Protein 882 3 | | R3H And Coiled-Coil Domain-Containing Protein 1-Like2 |
Export aliases for R3HCC1L gene to outside databases |
Summaries
for R3HCC1L 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 R3HCC1L 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_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for R3HCC1L
Other transcription factors
Search SABiosciences Chromatin IP Primers for R3HCC1L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat R3HCC1L |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q24.2 Ensembl cytogenetic band: 10q24.2 HGNC cytogenetic band: 10q24.2R3HCC1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P099894: view genomic region
(about GC identifiers)
Start:
|
99,894,381 bp from pter |
End:
|
100,004,654 bp from pter |
Size:
|
110,274 bases |
Orientation:
|
plus strand |
|
Proteins
for R3HCC1L 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: R3HCL_HUMAN, Q7Z5L2 (See
protein sequence)Recommended Name: R3H and coiled-coil domain-containing protein 1-like Size: 792 amino acids; 87884 Da
Sequence caution: Sequence=AAC05748.1; Type=Frameshift; Positions=304; Sequence=BAC04364.1; Type=Erroneous initiation;Note=Translation N-terminally extended;
Secondary accessions: O60598 Q5W0B4 Q5W0B5 Q86VT9 Q8N9H0Alternative splicing: 3 isoforms: Q7Z5L2-1 Q7Z5L2-2 Q7Z5L2-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for R3HCC1L: NX_Q7Z5L2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7Z5L2
R3HCC1L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001243548.1 NP_001243549.1 NP_001243550.1 NP_055287.4 NP_612478.2
ENSEMBL proteins: ENSP00000298999 ENSP00000359618 ENSP00000359616 ENSP00000314018
Human Recombinant Protein Products:
R3HCC1L Antibody Products:
Assay Products for R3HCC1L: |
Protein
Domains /
Families
for R3HCC1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
R3HCC1L for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q7Z5L2ProtoNet protein and cluster: Q7Z5L2 |
Function
for R3HCC1L 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 R3HCC1L (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for R3HCC1L (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HCC1L |
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:0000166 | nucleotide binding |
IEA | -- |
R3HCC1L for ontologies About GeneDecksing
|
Pathways & Interactions
for R3HCC1L 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 R3HCC1L
|
Drugs & Compounds
for R3HCC1L 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 R3HCC1L
Search CenterWatch for drugs/clinical trials and news about R3HCC1L / R3HCL
|
Transcripts
for R3HCC1L 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 R3HCC1L gene (5 alternative transcripts): NM_001256619.1 NM_001256620.1 NM_001256621.1 NM_014472.4 NM_138469.2 Unigene Cluster for R3HCC1L: R3H domain and coiled-coil containing 1-like Hs.419800 [show with all ESTs]Unigene Representative Sequence: NM_0012566194 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000298999(uc001kow.4 uc001koy.4 uc009xvx.3 uc009xvy.3 uc001koz.4)
ENST00000370586 ENST00000370584 ENST00000314594(uc001kox.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for R3HCC1L (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for R3HCC1L (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AF050198.1 AF525304.1 AK058187.1 AK094479.1 AK292546.1 BC009231.2 BC047908.1 BC098175.1 BC098268.1 BC098359.1 BC099848.1 11 DOTS entries: DT.97775359 DT.201397 DT.100023351 DT.121212795 DT.121212819 DT.102824855 DT.121212808 DT.121212788 DT.99932165 DT.121212769 DT.121212803 24/47 AceView cDNA sequences (see all 47): AI453689 BM717339 BM993056 BQ429757 BF112221 BQ605320 AU130441 AI654913 AW273890 BM805122 CB528783 CA427577 AK058187 BP364462 AF525304 AU130447 AI868416 BM969188 BQ574807 BX646236 AI344204 BX390530 BC009231 BC047908
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for R3HCC1L (see all 6) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
|---|
|
| SP1: | | | | | - | | | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | - | | - | | - | | - | | | | | | - | | | | | | | | | | | | | | |
| SP4: | | | | | - | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for R3HCC1L
|
Expression
for R3HCC1L 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
| See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --
See R3HCC1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for R3HCC1L
SOURCE GeneReport for Unigene cluster: Hs.419800
UniProtKB/Swiss-Prot: R3HCL_HUMAN, Q7Z5L2Tissue specificity: Expressed in placenta
SABiosciences Custom PCR Arrays for R3HCC1L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for R3HCC1L
Browse OriGene validated miRNA SYBR primer pairs
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Primer Assays in human, mouse, rat R3HCC1L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat R3HCC1L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat R3HCC1L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HCC1L |
Orthologs
for R3HCC1L 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 R3HCC1L gene from 8/21 species (see all 21) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
R3hcc1l5
D19Ertd386e1 |
DNA segment, Chr 19, ERATO Doi 386, expressed1, 5 |
78.65(n)1
66.01(a)1 |
|
19 (36.47 cM)5
520131 NM_177464.41 NP_803415.11
425187595 |
chicken
(Gallus gallus) |
Aves |
C10orf286 |
Uncharacterized protein |
57(a) |
1 ↔ 1 |
6(23685857-23689776) |
lizard
(Anolis carolinensis) |
Reptilia |
C10orf286 |
-- |
77(a) |
1 ↔ 1 |
3(38851756-38859378) |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.196312 |
Transcribed sequence with weak similarity to protein more |
77.62(n) |
|
BX781716.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufc76b112 |
Transcribed sequence with weak similarity to protein more |
74.69(n) |
|
BG308034.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG21626 |
-- |
20(a) |
1 → many |
3L(3035196-3040469) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G221206 |
uncharacterized protein |
15(a) |
1 → many |
5(7334378-7336814) |
rice
(Oryza sativa) |
Liliopsida |
-- |
growth inhibition and differentiation-related prot... |
20(a) |
1 → many |
1(42573783-42576774) |
ENSEMBL Gene Tree for R3HCC1L (if available)
TreeFam Gene Tree for R3HCC1L (if available) |
Paralogs
for R3HCC1L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for R3HCC1L gene
- R3HCC12
2 SIMAP similar genes for R3HCC1L using alignment to 2 protein entries: R3HCL_HUMAN (see all proteins):C10orf28 R3HCC1
R3HCC1L for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for R3HCC1L
PGOHUM00000239736
|
Genomic Variants
for R3HCC1L 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 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for R3HCC1L (99894381 - 100004654 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for R3HCC1L: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing R3HCC1L |
|
Disorders
/ Diseases
for R3HCC1L 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
|
R3HCC1L for disorders About GeneDecksing
1  disease for R3HCC1L: About MalaCardsalzheimer's disease
Export disorders for R3HCC1L gene to outside databases
|
Publications
for R3HCC1L 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 R3HCC1L gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with R3HCC1L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
- The development of a genetic profile of placental gene expression during the first trimester of pregnancy: a potential tool for identifying novel secreted markers. (PubMed id 10867487)1, 2 Page N.M.... Lowry P.J. (2000)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
- 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)
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
- 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)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
|
External Searches for R3HCC1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing R3HCC1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing R3HCC1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing R3HCC1L 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 R3HCC1L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for R3HCC1L gene:
Search GeneIP for patents involving R3HCC1L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for R3HCC1L 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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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HCC1L |
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