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RBM48 Gene

protein-coding   GIFtS: 39
GCID: GC07P092159

RNA Binding Motif Protein 48

(Previous name: chromosome 7 open reading frame 64)
(Previous symbol: C7orf64)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RNA Binding Motif Protein 481 2     HSPC3042
C7orf641 2 3     RNA-Binding Protein 482
Chromosome 7 Open Reading Frame 641     UPF0712 Protein C7orf642
DKFZP564O05232     

External Ids:    HGNC: 217851   Entrez Gene: 840602   Ensembl: ENSG000001279937   UniProtKB: Q5RL733   

Export aliases for RBM48 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RBM48 Gene:
RBM48 (RNA binding motif protein 48) is a protein-coding gene. GO annotations related to this gene include RNA binding.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RBM48
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RBM48 promoter sequence
   Search Chromatin IP Primers for RBM48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 7q21.2

RBM48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM48 gene location

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     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
not correspond to the translation of the nucleic acid sequence; Sequence=EAL24148.1; Type=Erroneous gene model
prediction;
Secondary accessions: B7ZL51 Q5H9T2 Q8IYW7 Q96NS0 Q9H0V7

Explore the universe of human proteins at neXtProt for RBM48: NX_Q5RL73

Explore proteomics data for RBM48 at MOPED


See RBM48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_115496.2  
ENSEMBL proteins: 
 ENSP00000265732   ENSP00000419242   ENSP00000418333  

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antibodies-online proteins for RBM48 (6 products) 

 
antibodies-online peptides for RBM48

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
RBM: RNA binding motif (RRM) containing

ProtoNet protein and cluster: Q5RL73

UniProtKB/Swiss-Prot: RBM48_HUMAN, Q5RL73
Similarity: Belongs to the RBM48 family
Similarity: Contains 1 RRM (RNA recognition motif) domain


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000166nucleotide binding ----
GO:0003723RNA binding IEA--
     
Find genes that share ontologies with RBM48           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for RBM48:
 Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for RBM48

miRNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--

Find genes that share ontologies with RBM48           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBM48
Interactions:

    Search GeneGlobe Interaction Network for RBM48

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

Selected Interacting proteins for RBM48 (Q5RL732, 3 ENSP000002657324) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
InteractantInteraction Details
GeneCardExternal ID(s)
SMN1Q166372, 3MINT-8270926 I2D: score=2 
SMN2Q166372, 3MINT-8270926 I2D: score=2 
NUDT21O438092, 3MINT-8264248 I2D: score=5 
TK1P041832, 3MINT-8273048 I2D: score=5 
ANXA7P200732, 3MINT-8248065 I2D: score=2 
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RBM48



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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: CR936726
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000265732(uc011khu.1 uc003ulz.3) ENST00000481551(uc003uma.3)
ENST00000496410
miRNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat RBM48

Additional mRNA 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 

Selected AceView cDNA sequences (see all 71):

BQ417226 CB142234 BC044570 CN482889 BC020919 BG034463 CR597840 BX096028 
AA286678 BX365556 CR606045 BM739101 CB128016 AV755777 CR533549 BX371484 
CB139661 BC007365 BG529883 AL543983 BM970879 BC033561 BI824133 BQ287769 

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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RBM48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TACAGTAATT
RBM48 Expression
About this image

RBM48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RBM48 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.21590
    Custom PCR Arrays for RBM48
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBM48

(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)
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This gene was present in the common ancestor of animals.

Orthologs for RBM48 gene from Selected species (see all 16)    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 C2H7ORF641 chromosome 2 open reading frame, human C7orf64 60.02(n)
56.25(a)
  420555  NM_001030974.1  NP_001026145.1 
lizard
(Anolis carolinensis)
Reptilia RBM486
RNA binding motif protein 48
49(a)
1 ↔ 1
6(21284583-21290951)
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 50.63(n)
45.11(a)
  5740811  NM_001103810.2  NP_001097280.1 


ENSEMBL Gene Tree for RBM48 (if available)
TreeFam Gene Tree for RBM48 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RBM48 gene
2 SIMAP similar genes for RBM48 using alignment to 3 protein entries:     RBM48_HUMAN (see all proteins):
C7orf64    DKFZP564O0523

Find genes that share paralogs with RBM48           About GenesLikeMe


1 Pseudogenes.org Pseudogene for RBM48
PGOHUM00000259956


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RBM48 (see all 134)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs69732931,2
C,F,A--92160025(+) acaagT/Gatcac 1 -- int15Minor allele frequency- G:0.11NA CSA WA EA 362
rs1125048051,2
C--92160197(+) GAGACC/TAGACT 1 -- int11Minor allele frequency- T:0.50CSA 2
rs1880438681,2
--92160233(+) TTTGTA/GAAAAT 1 -- int10--------
rs1165227191,2
C,F--92160259(+) GGTGTG/TTTGGT 1 -- int11Minor allele frequency- T:0.04WA 118
rs1471906691,2
--92160536(+) TTCTTA/GGGGTT 1 -- int10--------
rs1486506911,2
C--92160594(+) GAATAC/TAGTAA 1 -- int10--------
rs1411946751,2
--92160630(+) TTACTC/TCTTTC 1 -- int10--------
rs1923220401,2
--92160706(+) GTATGC/TAGTGC 1 -- int10--------
rs751555841,2
C,F--92160727(+) TTTATA/GTTGAT 1 -- int11Minor allele frequency- G:0.02NA 120
rs1836219651,2
--92160789(+) CAATTC/GATATT 1 -- int10--------

HapMap Linkage Disequilibrium report for RBM48 (92158087 - 92167319 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for RBM48: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing RBM48
DNA2.0 Custom Variant and Variant Library Synthesis for RBM48

(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.)
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  --

(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)
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PubMed articles for RBM48 gene integrated from 10 sources:
(articles sorted by number of sources associating them with RBM48)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. 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. (Genome Res. 2001)
  3. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
  4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
  5. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
  6. 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. (Genome Res. 2004)
  7. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. (PubMed id 15383276)1 Goehler H....Wanker E.E. (Mol. Cell 2004)
  8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 84060 HGNC: 21785 AceView: DKFZP564O0523 Ensembl:ENSG00000127993 euGenes: HUgn84060
ECgene: RBM48 H-InvDB: RBM48

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for RBM48 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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