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Aliases for RPSA Gene

Aliases for RPSA Gene

  • Ribosomal Protein SA 2 3 5
  • Multidrug Resistance-Associated Protein MGr1-Ag 3 4
  • Laminin Receptor 1 (67kD, Ribosomal Protein SA) 2 3
  • Colon Carcinoma Laminin-Binding Protein 3 4
  • Laminin-Binding Protein Precursor P40 3 4
  • Small Ribosomal Subunit Protein US2 3 4
  • 37/67 KDa Laminin Receptor 3 4
  • 67 KDa Laminin Receptor 3 4
  • NEM/1CHD4 3 4
  • LBP/P40 3 4
  • LRP/LR 3 4
  • LAMR1 3 4
  • 37LRP 3 4
  • LAMBR 3 4
  • LamR 3 4
  • 67LR 3 4
  • 37 KDa Laminin Receptor Precursor 4
  • 40S Ribosomal Protein SA 3
  • 37 KDa Laminin Receptor 3
  • Laminin Receptor 1 4
  • ICAS 3
  • LBP 3
  • LRP 3
  • P40 3
  • SA 3

External Ids for RPSA Gene

Previous HGNC Symbols for RPSA Gene

  • LAMR1

Previous GeneCards Identifiers for RPSA Gene

  • GC03P039424
  • GC03P039448

Summaries for RPSA Gene

Entrez Gene Summary for RPSA Gene

  • Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for RPSA Gene

RPSA (Ribosomal Protein SA) is a Protein Coding gene. Diseases associated with RPSA include Asplenia, Isolated Congenital and Venezuelan Equine Encephalitis. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include ribosome binding.

UniProtKB/Swiss-Prot for RPSA Gene

  • Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Acts as a PPP1R16B-dependent substrate of PPP1CA.

  • (Microbial infection) Acts as a receptor for the Adeno-associated viruses 2,3,8 and 9.

  • (Microbial infection) Acts as a receptor for the Dengue virus.

  • (Microbial infection) Acts as a receptor for the Sindbis virus.

  • (Microbial infection) Acts as a receptor for the Venezuelan equine encephalitis virus.

  • (Microbial infection) Acts as a receptor for the pathogenic prion protein.

  • (Microbial infection) Acts as a receptor for bacteria.

Gene Wiki entry for RPSA Gene

Additional gene information for RPSA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPSA Gene

Genomics for RPSA Gene

GeneHancer (GH) Regulatory Elements for RPSA Gene

Promoters and enhancers for RPSA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J039403 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 707.8 +0.4 368 6.2 PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 RPSA GC03P039409 SNORA6 GC03P039417 GC03P039413 GC03M039393 GORASP1 SNORA62 WDR48
GH03J039382 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 42 -22.9 -22907 2.7 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 LOC105377644 SLC25A38 GORASP1 RPSA SNORA62 WDR48 XIRP1 GC03M039393
GH03J039387 Enhancer 1 Ensembl ENCODE 40.7 -17.9 -17938 2.5 HDGF HDAC1 PKNOX1 BATF TCF12 ETV6 IKZF2 RUNX3 CREM JUNB RPSA SLC25A38 GC03M039393
GH03J039361 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.1 -44.7 -44682 1.6 MAX STAT5A BATF RELA GATA3 ZNF316 POLR2A EGR1 EED VEZF1 RPSA HNRNPA1P21 CCR8 SNORA6 CX3CR1 XIRP1 SLC25A38 WDR48 EEF1A1P24 GC03P039372
GH03J039413 Enhancer 0.7 ENCODE 33.3 +7.7 7679 1.1 HNRNPUL1 MEIS2 PKNOX1 SMAD1 CCNT2 POLR2B POLR2A NFATC1 RBM22 DEK RPSA GORASP1 SNORA62 SLC25A38 GC03P039422 LOC105377038
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPSA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPSA gene promoter:
  • C/EBPbeta
  • Arnt
  • AhR
  • CBF-B
  • CBF-C
  • CBF(2)

Genomic Locations for RPSA Gene

Genomic Locations for RPSA Gene
chr3:39,406,689-39,412,542
(GRCh38/hg38)
Size:
5,854 bases
Orientation:
Plus strand
chr3:39,448,180-39,454,033
(GRCh37/hg19)
Size:
5,854 bases
Orientation:
Plus strand

Genomic View for RPSA Gene

Genes around RPSA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RPSA Gene

Proteins for RPSA Gene

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

    Protein Symbol:
    P08865-RSSA_HUMAN
    Recommended name:
    40S ribosomal protein SA
    Protein Accession:
    P08865
    Secondary Accessions:
    • P11085
    • P12030
    • Q16471
    • Q6IPD1
    • Q6IPD2
    • Q6NSD1
    • Q6NXQ8
    • Q86VC0

    Protein attributes for RPSA Gene

    Size:
    295 amino acids
    Molecular mass:
    32854 Da
    Quaternary structure:
    • Monomer (37LRP) and homodimer (67LR). Component of the small ribosomal subunit. Mature ribosomes consist of a small (40S) and a large (60S) subunit. The 40S subunit contains about 33 different proteins and 1 molecule of RNA (18S). The 60S subunit contains about 49 different proteins and 3 molecules of RNA (28S, 5.8S and 5S). Interacts with RPS21. Interacts with several laminins including at least LAMB1. Interacts with MDK (By similarity). The mature dimeric form interacts with PPP1R16B (via its fourth ankyrin repeat). Interacts with PPP1CA only in the presence of PPP1R16B.
    • (Microbial infection) 67LR interacts with capsid protein of Adeno-associated virus 2,3,8 and 9.
    • (Microbial infection) 67LR interacts with envelope protein of dengue virus.
    • (Microbial infection) 6s7LR interacts with E2 glycoprotein of Sindbis and Venezuelan equine encephalitis virus (PubMed:8764073, PubMed:1385835).
    Miscellaneous:
    • This protein appears to have acquired a second function as a laminin receptor specifically in the vertebrate lineage.
    • It is thought that in vertebrates 37/67 kDa laminin receptor acquired a dual function during evolution. It developed from the ribosomal protein SA, playing an essential role in the protein biosynthesis lacking any laminin binding activity, to a cell surface receptor with laminin binding activity.

    Three dimensional structures from OCA and Proteopedia for RPSA Gene

neXtProt entry for RPSA Gene

Post-translational modifications for RPSA Gene

  • Acylated. Acylation may be a prerequisite for conversion of the monomeric 37 kDa laminin receptor precursor (37LRP) to the mature dimeric 67 kDa laminin receptor (67LR), and may provide a mechanism for membrane association (PubMed:9581863).
  • Cleaved by stromelysin-3 (ST3) at the cell surface. Cleavage by stromelysin-3 may be a mechanism to alter cell-extracellular matrix interactions.
  • Ubiquitination at isoforms=166, isoforms=89, isoforms=57, isoforms=52, and posLast=4040
  • Modification sites at PhosphoSitePlus

Other Protein References for RPSA Gene

No data available for DME Specific Peptides for RPSA Gene

Domains & Families for RPSA Gene

Gene Families for RPSA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Suggested Antigen Peptide Sequences for RPSA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08865

UniProtKB/Swiss-Prot:

RSSA_HUMAN :
  • Belongs to the universal ribosomal protein uS2 family.
Family:
  • Belongs to the universal ribosomal protein uS2 family.
genes like me logo Genes that share domains with RPSA: view

Function for RPSA Gene

Molecular function for RPSA Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly and/or stability of the 40S ribosomal subunit. Required for the processing of the 20S rRNA-precursor to mature 18S rRNA in a late step of the maturation of 40S ribosomal subunits. Also functions as a cell surface receptor for laminin. Plays a role in cell adhesion to the basement membrane and in the consequent activation of signaling transduction pathways. May play a role in cell fate determination and tissue morphogenesis. Acts as a PPP1R16B-dependent substrate of PPP1CA.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for the Adeno-associated viruses 2,3,8 and 9.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for the Dengue virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for the Sindbis virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for the Venezuelan equine encephalitis virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for the pathogenic prion protein.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for bacteria.

Phenotypes From GWAS Catalog for RPSA Gene

Gene Ontology (GO) - Molecular Function for RPSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0003723 RNA binding HDA 22681889
GO:0003735 structural constituent of ribosome IBA,IEA --
GO:0005055 laminin receptor activity IEA --
GO:0005515 protein binding IPI 16263087
genes like me logo Genes that share ontologies with RPSA: view
genes like me logo Genes that share phenotypes with RPSA: view

Human Phenotype Ontology for RPSA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPSA Gene

MGI Knock Outs for RPSA:
  • Rpsa Rpsa<tm1Ells>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RPSA Gene

Localization for RPSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPSA Gene

Cell membrane. Cytoplasm. Nucleus. Note=67LR is found at the surface of the plasma membrane, with its C-terminal laminin-binding domain accessible to extracellular ligands. 37LRP is found at the cell surface, in the cytoplasm and in the nucleus (By similarity). Colocalizes with PPP1R16B in the cell membrane. {ECO:0000255 HAMAP-Rule:MF_03016}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPSA gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus TAS,IEA 16130169
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,TAS 16130169
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPSA: view

Pathways & Interactions for RPSA Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.55
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPSA: view

Gene Ontology (GO) - Biological Process for RPSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000447 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0000461 endonucleolytic cleavage to generate mature 3-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with RPSA: view

No data available for SIGNOR curated interactions for RPSA Gene

Drugs & Compounds for RPSA Gene

(7) Drugs for RPSA Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Tigapotide Investigational Pharma Target 0

(5) Additional Compounds for RPSA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPSA: view

Transcripts for RPSA Gene

mRNA/cDNA for RPSA Gene

Unigene Clusters for RPSA Gene

Ribosomal protein SA:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - -
SP9:
SP10: - - - - - - -
SP11: - - -
SP12: - -
SP13: - - -
SP14:

Relevant External Links for RPSA Gene

GeneLoc Exon Structure for
RPSA
ECgene alternative splicing isoforms for
RPSA

Expression for RPSA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPSA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPSA Gene

This gene is overexpressed in Bone marrow stromal cell (14.4).

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



Protein tissue co-expression partners for RPSA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPSA Gene:

RPSA

SOURCE GeneReport for Unigene cluster for RPSA Gene:

Hs.449909

Evidence on tissue expression from TISSUES for RPSA Gene

  • Lung(5)
  • Nervous system(5)
  • Blood(4.9)
  • Eye(4.9)
  • Liver(4.9)
  • Intestine(4.8)
  • Pancreas(4.8)
  • Skin(4.8)
  • Bone(4.7)
  • Kidney(4.5)
  • Muscle(4.5)
  • Stomach(4.4)
  • Heart(3.3)
  • Lymph node(2.7)
  • Thyroid gland(2.3)
  • Bone marrow(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPSA Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
Abdomen:
  • spleen
genes like me logo Genes that share expression patterns with RPSA: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPSA Gene

Orthologs for RPSA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPSA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPSA 34
  • 100 (a)
OneToOne
LOC740423 33
  • 99.55 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 99 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rpsa-ps10 34
  • 99 (a)
ManyToMany
Rpsa 16 33
  • 88.93 (n)
dog
(Canis familiaris)
Mammalia RPSA 33
  • 93.67 (n)
-- 34
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RPSA 34 33
  • 90.62 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rpsa 33
  • 88.47 (n)
chicken
(Gallus gallus)
Aves RPSA 34 33
  • 84.07 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 92 (a)
ManyToMany
-- 34
  • 88 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rpsa 33
  • 81.91 (n)
MGC75768 33
African clawed frog
(Xenopus laevis)
Amphibia lamr1-prov 33
zebrafish
(Danio rerio)
Actinopterygii rpsa 34 33
  • 82.03 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sta 34 33
  • 67.88 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta RSSA_ANOGA 33
  • 62.58 (n)
worm
(Caenorhabditis elegans)
Secernentea rps-0 34 33
  • 61.03 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16171g 33
  • 61.74 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL140C 33
  • 60.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS0A 36 34 33
  • 59.63 (n)
RPS0B 34
  • 56 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons P40 33
  • 62.71 (n)
rice
(Oryza sativa)
Liliopsida Os07g0616600 33
  • 62.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5233 34
  • 67 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rps002 33
  • 63.41 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03393 33
  • 58.52 (n)
Species where no ortholog for RPSA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPSA Gene

ENSEMBL:
Gene Tree for RPSA (if available)
TreeFam:
Gene Tree for RPSA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPSA: view image

Paralogs for RPSA Gene

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

  • RSSA_HUMAN
  • C9J9K3_HUMAN
  • F8WD59_HUMAN
genes like me logo Genes that share paralogs with RPSA: view

No data available for Paralogs for RPSA Gene

Variants for RPSA Gene

Sequence variations from dbSNP and Humsavar for RPSA Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs397514759 pathogenic, Asplenia, isolated congenital 39,407,678(+) C/T coding_sequence_variant, stop_gained
rs397514760 pathogenic, Asplenia, isolated congenital, Asplenia, isolated congenital (ICAS) [MIM:271400], Asplenia, isolated congenital (ICAS) [MIM:271400] 39,411,688(+) C/G/T coding_sequence_variant, missense_variant
rs397514761 pathogenic, Asplenia, isolated congenital, Asplenia, isolated congenital (ICAS) [MIM:271400] 39,411,706(+) C/T coding_sequence_variant, missense_variant
rs397514762 pathogenic, Asplenia, isolated congenital, Asplenia, isolated congenital (ICAS) [MIM:271400] 39,408,633(+) C/A coding_sequence_variant, missense_variant
rs397514763 pathogenic, Asplenia, isolated congenital, Asplenia, isolated congenital (ICAS) [MIM:271400] 39,408,644(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RPSA Gene

Variant ID Type Subtype PubMed ID
nsv509822 OTHER sequence alteration 20534489
nsv963310 CNV duplication 23825009

Variation tolerance for RPSA Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPSA Gene

Human Gene Mutation Database (HGMD)
RPSA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPSA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPSA Gene

Disorders for RPSA Gene

MalaCards: The human disease database

(16) MalaCards diseases for RPSA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
asplenia, isolated congenital
  • icas
venezuelan equine encephalitis
  • venezuelan equine fever
dengue virus
  • dengue virus, susceptibility to
encephalitis
tolosa-hunt syndrome
  • tolosa hunt syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RPSA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSSA_HUMAN
  • Asplenia, isolated congenital (ICAS) [MIM:271400]: A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome. {ECO:0000269 PubMed:23579497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPSA

genes like me logo Genes that share disorders with RPSA: view

No data available for Genatlas for RPSA Gene

Publications for RPSA Gene

  1. Isolation from a multigene family of the active human gene of the metastasis-associated multifunctional protein 37LRP/p40 at chromosome 3p21.3. (PMID: 8760291) Jackers P … Castronovo V (Oncogene 1996) 2 3 4 22 58
  2. 67-kDa laminin receptor promotes internalization of cytotoxic necrotizing factor 1-expressing Escherichia coli K1 into human brain microvascular endothelial cells. (PMID: 15516338) Kim KJ … Kim KS (The Journal of biological chemistry 2005) 3 4 22 58
  3. Cloning of 67-kDa laminin receptor cDNA and gene expression in normal and malignant cell lines of the human lung. (PMID: 1534510) Satoh K … Motomiya M (Cancer letters 1992) 2 3 4 58
  4. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. (PMID: 23579497) Bolze A … Casanova JL (Science (New York, N.Y.) 2013) 3 4 58
  5. 67-kDa laminin receptor in human bile duct carcinoma. (PMID: 19182490) Li D … Wang S (European surgical research. Europaische chirurgische Forschung. Recherches chirurgicales europeennes 2009) 3 22 58

Products for RPSA Gene

Sources for RPSA Gene

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