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Aliases for RBM48 Gene

Aliases for RBM48 Gene

  • RNA Binding Motif Protein 48 2 3 5
  • C7orf64 3 4
  • Chromosome 7 Open Reading Frame 64 2
  • UPF0712 Protein C7orf64 3
  • MGC16142 3
  • HSPC304 3

External Ids for RBM48 Gene

Previous HGNC Symbols for RBM48 Gene

  • C7orf64

Previous GeneCards Identifiers for RBM48 Gene

  • GC07P092159

Summaries for RBM48 Gene

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 and nucleotide binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM48 Gene

Genomics for RBM48 Gene

Regulatory Elements for RBM48 Gene

Enhancers for RBM48 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBM48 on UCSC Golden Path with GeneCards custom track

Promoters for RBM48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBM48 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBM48 Gene

Chromosome:
7
Start:
92,528,692 bp from pter
End:
92,539,405 bp from pter
Size:
10,714 bases
Orientation:
Plus strand

Genomic View for RBM48 Gene

Genes around RBM48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM48 Gene

Proteins for RBM48 Gene

  • Protein details for RBM48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5RL73-RBM48_HUMAN
    Recommended name:
    RNA-binding protein 48
    Protein Accession:
    Q5RL73
    Secondary Accessions:
    • B7Z2K5
    • B7ZL51
    • Q5H9T2
    • Q8IYW7
    • Q96NS0
    • Q9H0V7

    Protein attributes for RBM48 Gene

    Size:
    367 amino acids
    Molecular mass:
    41808 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33561.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB70806.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66554.1; Type=Frameshift; Positions=341; Evidence={ECO:0000305}; Sequence=CAI45942.1; Type=Erroneous translation; Note=The protein sequence does not correspond to the translation of the nucleic acid sequence.; Evidence={ECO:0000305}; Sequence=EAL24148.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for RBM48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM48 Gene

Proteomics data for RBM48 Gene at MOPED

Post-translational modifications for RBM48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM48 Gene

No data available for DME Specific Peptides for RBM48 Gene

Domains & Families for RBM48 Gene

Gene Families for RBM48 Gene

Protein Domains for RBM48 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBM48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5RL73

UniProtKB/Swiss-Prot:

RBM48_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
  • Belongs to the RBM48 family.
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the RBM48 family.
genes like me logo Genes that share domains with RBM48: view

Function for RBM48 Gene

Gene Ontology (GO) - Molecular Function for RBM48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with RBM48: view
genes like me logo Genes that share phenotypes with RBM48: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM48 Gene

Localization for RBM48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBM48 Gene COMPARTMENTS Subcellular localization image for RBM48 gene
Compartment Confidence
nucleus 5
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RBM48 Gene

Pathways & Interactions for RBM48 Gene

SuperPathways for RBM48 Gene

No Data Available

Interacting Proteins for RBM48 Gene

Gene Ontology (GO) - Biological Process for RBM48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RBM48 Gene

Drugs & Compounds for RBM48 Gene

No Compound Related Data Available

Transcripts for RBM48 Gene

Unigene Clusters for RBM48 Gene

RNA binding motif protein 48:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBM48 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5
SP1: -
SP2:
SP3:

Relevant External Links for RBM48 Gene

GeneLoc Exon Structure for
RBM48
ECgene alternative splicing isoforms for
RBM48

Expression for RBM48 Gene

mRNA expression in normal human tissues for RBM48 Gene

Protein differential expression in normal tissues from HIPED for RBM48 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RBM48 Gene



SOURCE GeneReport for Unigene cluster for RBM48 Gene Hs.21590

genes like me logo Genes that share expression patterns with RBM48: view

Protein tissue co-expression partners for RBM48 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RBM48 Gene

Orthologs for RBM48 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBM48 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBM48 35
  • 83.79 (n)
  • 76.8 (a)
RBM48 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBM48 35
  • 87.92 (n)
  • 83.92 (a)
RBM48 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbm48 35
  • 78.38 (n)
  • 71.93 (a)
Rbm48 16
Rbm48 36
  • 64 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBM48 35
  • 98.73 (n)
  • 98.64 (a)
RBM48 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbm48 35
  • 79.47 (n)
  • 73.3 (a)
oppossum
(Monodelphis domestica)
Mammalia RBM48 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM48 36
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H7ORF64 35
  • 60.02 (n)
  • 56.25 (a)
RBM48 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM48 36
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm48 35
  • 57.75 (n)
  • 52.35 (a)
Str.3657 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9219 35
zebrafish
(Danio rerio)
Actinopterygii Dr.23171 35
rbm48 35
  • 54.7 (n)
  • 48.37 (a)
rbm48 36
  • 43 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3492 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003741 35
  • 46.01 (n)
  • 42.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG34231 35
  • 50.63 (n)
  • 45.11 (a)
CG34231 36
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for RBM48:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RBM48 Gene

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

Paralogs for RBM48 Gene

(2) SIMAP similar genes for RBM48 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for RBM48 Gene

genes like me logo Genes that share paralogs with RBM48: view

No data available for Paralogs for RBM48 Gene

Variants for RBM48 Gene

Sequence variations from dbSNP and Humsavar for RBM48 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6964848 -- 92,533,221(+) ATCTG(C/T)AGACA intron-variant
rs6964956 -- 92,533,121(+) TGCCT(C/G)TTCTA intron-variant
rs6973293 -- 92,530,711(+) acaag(G/T)atcac intron-variant
rs17759900 -- 92,534,315(+) AGTGA(C/T)TTTTT intron-variant, utr-variant-3-prime
rs34074456 -- 92,533,686(+) CAAAA(-/A)CTCTT intron-variant

Variation tolerance for RBM48 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.33% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for RBM48 Gene

Disorders for RBM48 Gene

Relevant External Links for RBM48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBM48

No disorders were found for RBM48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RBM48 Gene

Publications for RBM48 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 67
  2. A directed protein interaction network for investigating intracellular signal transduction. (PMID: 21900206) Vinayagam A. … Wanker E.E. (Sci Signal 2011) 3
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  4. A human protein-protein interaction network: a resource for annotating the proteome. (PMID: 16169070) Stelzl U. … Wanker E.E. (Cell 2005) 3
  5. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. (PMID: 15383276) Goehler H. … Wanker E.E. (Mol. Cell 2004) 3

Products for RBM48 Gene

Sources for RBM48 Gene

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