RBM48 Gene
protein-coding GIFtS: 43
GCID: GC07P092159
|
|
RNA binding motif protein 48(Previous name: chromosome 7 open reading frame 64 )
(Previous symbol: C7orf64)
| |
Aliases
for RBM48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| RNA Binding Motif Protein 481 2 | | Chromosome 7 Open Reading Frame 641 | | C7orf641 2 3 | | DKFZP564O05232 | | HSPC3041 2 | | RNA-Binding Protein 482 | | DKFZp564O05231 | | UPF0712 Protein C7orf642 |
Export aliases for RBM48 gene to outside databases |
Summaries
for RBM48 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 RBM48 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 RBM48
Other transcription factors
Search SABiosciences Chromatin IP Primers for RBM48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBM48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q21.2 Ensembl cytogenetic band: 7q21.2 HGNC cytogenetic band: 7q21.2RBM48 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 GC07P092159: view genomic region
(about GC identifiers)
Start:
|
92,158,087 bp from pter |
End:
|
92,167,319 bp from pter |
Size:
|
9,233 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr7+,CRA_TCAG 91,487,311-91,496,047 |
|
Proteins
for RBM48 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: RBM48_HUMAN, Q5RL73 (See
protein sequence)Recommended Name: RNA-binding protein 48 Size: 367 amino acids; 41808 Da
Sequence caution: Sequence=AAH33561.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=BAB70806.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB66554.1;Type=Frameshift; Positions=341; Sequence=CAI45942.1; Type=Erroneous translation; Note=The protein sequence does notcorrespond to the translation of the nucleic acid sequence; Sequence=EAL24148.1; Type=Erroneous gene model prediction;
Secondary accessions: B7ZL51 Q5H9T2 Q8IYW7 Q96NS0 Q9H0V7Explore the universe of human proteins at neXtProt for RBM48: NX_Q5RL73
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q5RL73
RBM48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_115496.2
ENSEMBL proteins: ENSP00000265732 ENSP00000419242 ENSP00000418333
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
RBM48 for ontologies About GeneDecksing
RBM48 Antibody Products:
Assay Products for RBM48: |
Protein
Domains /
Families
for RBM48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q5RL73 UniProtKB/Swiss-Prot: RBM48_HUMAN, Q5RL73Similarity: Belongs to the RBM48 familySimilarity: Contains 1 RRM (RNA recognition motif) domain |
Function
for RBM48 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 RBM48 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBM48 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for RBM48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBM48 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM48 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000166 | nucleotide binding |
-- | -- | | GO:0003723 | RNA binding |
IEA | -- |
RBM48 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for RBM48:
|
Pathways & Interactions
for RBM48 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 RBM48
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
5/56 Interacting proteins for RBM48 (Q5RL732, 3 ENSP000002657324) via UniProtKB, MINT, STRING, and/or I2D (see all 56)About this table
|
Drugs & Compounds
for RBM48 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 RBM48
Search CenterWatch for drugs/clinical trials and news about RBM48
|
Transcripts
for RBM48 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 RBM48 gene: NM_032120.2 Unigene Cluster for RBM48: RNA binding motif protein 48 Hs.21590 [show with all ESTs]Unigene Representative Sequence: CR9367263 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000265732(uc011khu.1 uc003ulz.3) ENST00000481551(uc003uma.3)
ENST00000496410
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RBM48 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RBM48 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for RBM48 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RBM48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBM48 |
Additional cDNA sequence: AF161422.1 AK054777.1 AK294626.1 AK294812.1 AL136619.1 BC020919.1 BC033561.1 BC044570.1 BC065716.1 BC104865.1 BC104867.1 BC143576.1 CR533549.1 CR933641.1 CR936726.1 9 DOTS entries: DT.40214171 DT.91760188 DT.106643 DT.95121475 DT.100781465 DT.100781466 DT.121065437 DT.92017591 DT.100699400 24/71 AceView cDNA sequences (see all 71): BX365556 BG034463 CB142234 BC044570 CR606045 AA286678 BX096028 BC020919 BM739101 CB128016 CN482889 BQ417226 CR597840 BX344534 BC007365 AL527381 BM751318 BG529883 AK054777 BX371484 BI824133 AL136619 AL570247 CB139661
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for RBM48 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 |
|---|
|
| SP1: | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for RBM48
|
Expression
for RBM48 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
| RBM48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACAGTAATT
About this image
See RBM48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBM48
SOURCE GeneReport for Unigene cluster: Hs.21590
SABiosciences Custom PCR Arrays for RBM48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RBM48
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat RBM48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBM48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBM48 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM48 |
Orthologs
for RBM48 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 RBM48 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 |
Rbm481 , 5 |
RIKEN cDNA C030048B08 gene5
RNA binding motif protein 481 |
78.38(n)1
71.93(a)1 |
|
5 (2.25 cM)5
2696231 NM_172991.41 NP_766579.31
35839785 |
chicken
(Gallus gallus) |
Aves |
RBM481 |
RNA binding motif protein 48 |
60.29(n)
55.07(a) |
|
420555 NM_001030974.1 NP_001026145.1 |
lizard
(Anolis carolinensis) |
Reptilia |
C7orf646 |
-- |
49(a) |
1 ↔ 1 |
6(21284598-21290951) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.92192 |
Xenopus laevis transcribed sequence with weak similarity more |
76.14(n) |
|
BX848135.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.231712 |
Danio rerio hypothetical protein DKFZp564O0523 mRNA, more |
72.68(n) |
|
AY423031.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG342311 |
CG34231 |
50.36(n)
44.53(a) |
|
5740811 NM_001103810.2 NP_001097280.1 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT2G277906 |
RNA recognition motif-containing protein |
28(a) |
1 ↔ 1 |
2(11847109-11849559) |
rice
(Oryza sativa) |
Liliopsida |
-- |
nucleic acid binding protein, putative, expressed |
30(a) |
1 ↔ 1 |
2(274428-277257) |
ENSEMBL Gene Tree for RBM48 (if available)
TreeFam Gene Tree for RBM48 (if available) |
Paralogs
for RBM48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RBM48 gene
2 SIMAP similar genes for RBM48 using alignment to 3 protein entries: RBM48_HUMAN (see all proteins):C7orf64 DKFZP564O0523
RBM48 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for RBM48
PGOHUM00000259956
|
Genomic Variants
for RBM48 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 RBM48 (92158087 - 92167319 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RBM48: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RBM48 |
|
Disorders
/ Diseases
for RBM48 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
|
RBM48 for disorders About GeneDecksing
1  disease for RBM48: About MalaCardshuntington's disease
Export disorders for RBM48 gene to outside databases
|
Publications
for RBM48 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 RBM48 gene integrated from 9 sources:
(articles sorted by number of sources associating them with RBM48) | |  | 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)
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- 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)
- A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. (PubMed id 15383276)1 Goehler H....Wanker E.E. (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)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
|
External Searches for RBM48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RBM48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RBM48 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RBM48 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 RBM48 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RBM48 gene:
Search GeneIP for patents involving RBM48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RBM48 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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 |
 |
 | | | RBM48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM48 |
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