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Aliases for SRP72 Gene

Aliases for SRP72 Gene

  • Signal Recognition Particle 72 2 3 5
  • Signal Recognition Particle 72 KDa Protein 3 4
  • Signal Recognition Particle 72kDa 2 3
  • Signal Recognition Particle Subunit SRP72 3
  • Signal Recognition Particle 72kD 3
  • Epididymis Luminal Protein 103 3
  • HEL103 3
  • BMFS1 3
  • BMFF 3

External Ids for SRP72 Gene

Previous GeneCards Identifiers for SRP72 Gene

  • GC04P057137
  • GC04P057295
  • GC04P057249
  • GC04P057174
  • GC04P057028
  • GC04P057334
  • GC04P053287

Summaries for SRP72 Gene

Entrez Gene Summary for SRP72 Gene

  • This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for SRP72 Gene

SRP72 (Signal Recognition Particle 72) is a Protein Coding gene. Diseases associated with SRP72 include Bone Marrow Failure Syndrome 1 and Anterior Spinal Artery Syndrome. Among its related pathways are Viral mRNA Translation and Protein export. GO annotations related to this gene include poly(A) RNA binding and signal recognition particle binding.

UniProtKB/Swiss-Prot for SRP72 Gene

  • Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function.

Additional gene information for SRP72 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRP72 Gene

Genomics for SRP72 Gene

Regulatory Elements for SRP72 Gene

Enhancers for SRP72 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H056385 1.4 FANTOM5 ENCODE 44.4 -78.8 -78821 4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SRP72 AASDH CEP135 ENSG00000251799 SPINK2 ENSG00000269921
GH04H056465 1.3 ENCODE dbSUPER 46.6 +0.2 236 4 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 FOS SP3 SP5 SRP72 AASDH PAICS PPAT SPINK2 ENSG00000251799 ARL9 GC04M056462
GH04H056433 1.1 ENCODE 50.3 -31.1 -31053 4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SRP72 AASDH CEP135 RN7SKP30 POLR2B ENSG00000269921 ARL9 PAICS GC04P056437 GC04P056436
GH04H056408 1.1 Ensembl ENCODE 31.6 -56.5 -56499 2 PKNOX1 FOXA2 ARNT BMI1 ZBTB40 YY1 FOS ZNF362 REST ZNF518A SRP72 AASDH PPAT PAICS ENSG00000269921 ENSG00000251799 SPINK2 LOC100506514
GH04H056504 0.5 ENCODE 42.5 +38.8 38795 1 ZNF687 MAX ZBTB33 PRDM1 EZH2 SRP72 ARL9 AASDH LOC105377665
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SRP72 on UCSC Golden Path with GeneCards custom track

Promoters for SRP72 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000168661 685 2401 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 FOS SP3 SP5

Genomic Location for SRP72 Gene

Chromosome:
4
Start:
56,466,915 bp from pter
End:
56,503,681 bp from pter
Size:
36,767 bases
Orientation:
Plus strand

Genomic View for SRP72 Gene

Genes around SRP72 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRP72 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRP72 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRP72 Gene

Proteins for SRP72 Gene

  • Protein details for SRP72 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76094-SRP72_HUMAN
    Recommended name:
    Signal recognition particle subunit SRP72
    Protein Accession:
    O76094
    Secondary Accessions:
    • G5E9Z8
    • Q7Z3C0

    Protein attributes for SRP72 Gene

    Size:
    671 amino acids
    Molecular mass:
    74606 Da
    Quaternary structure:
    • Signal recognition particle consists of a 7S RNA molecule of 300 nucleotides and six protein subunits: SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9.
    SequenceCaution:
    • Sequence=CAD97950.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD97950.1; Type=Frameshift; Positions=565; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SRP72 Gene

    Alternative splice isoforms for SRP72 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRP72 Gene

Post-translational modifications for SRP72 Gene

  • Ubiquitination at Lys62, Lys73, posLast=8484, Lys112, posLast=325325, posLast=383383, posLast=391391, Lys504, and Lys569
  • Modification sites at PhosphoSitePlus

Other Protein References for SRP72 Gene

No data available for DME Specific Peptides for SRP72 Gene

Domains & Families for SRP72 Gene

Gene Families for SRP72 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry

O76094

UniProtKB/Swiss-Prot:

SRP72_HUMAN :
  • The C-terminus is essential for the interaction with the SRP68/7S RNA complex.
  • Belongs to the SRP72 family.
Domain:
  • The C-terminus is essential for the interaction with the SRP68/7S RNA complex.
Family:
  • Belongs to the SRP72 family.
genes like me logo Genes that share domains with SRP72: view

Function for SRP72 Gene

Molecular function for SRP72 Gene

GENATLAS Biochemistry:
signal recognition particle,72kDa,inconsistant localisation,except if the gene on chromosome 18 is a novel gene resulting from transplicing from CAMK2G on chromosome 10 and SRP72 on chroumosome 1
UniProtKB/Swiss-Prot Function:
Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. Binds the 7S RNA only in presence of SRP68. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function.

Phenotypes From GWAS Catalog for SRP72 Gene

Gene Ontology (GO) - Molecular Function for SRP72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005047 signal recognition particle binding IPI 17254600
GO:0005515 protein binding IPI 24965446
GO:0008312 7S RNA binding IMP 27899666
GO:0030911 TPR domain binding IPI 27899666
genes like me logo Genes that share ontologies with SRP72: view
genes like me logo Genes that share phenotypes with SRP72: view

Human Phenotype Ontology for SRP72 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SRP72
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SRP72 Gene

Localization for SRP72 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRP72 Gene

Cytoplasm. Endoplasmic reticulum.

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 SRP72 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 3
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SRP72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 22541560
GO:0005786 signal recognition particle, endoplasmic reticulum targeting IDA,IEA 18089836
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SRP72: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SRP72 Gene

Pathways & Interactions for SRP72 Gene

genes like me logo Genes that share pathways with SRP72: view

Pathways by source for SRP72 Gene

Gene Ontology (GO) - Biological Process for SRP72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS,IEA --
GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation IBA --
GO:0042493 response to drug IDA 18089836
genes like me logo Genes that share ontologies with SRP72: view

No data available for SIGNOR curated interactions for SRP72 Gene

Drugs & Compounds for SRP72 Gene

No Compound Related Data Available

Transcripts for SRP72 Gene

Unigene Clusters for SRP72 Gene

Signal recognition particle 72kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SRP72
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SRP72 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1: - - - -
SP2: -
SP3:
SP4:

Relevant External Links for SRP72 Gene

GeneLoc Exon Structure for
SRP72
ECgene alternative splicing isoforms for
SRP72

Expression for SRP72 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SRP72 Gene

Protein differential expression in normal tissues from HIPED for SRP72 Gene

This gene is overexpressed in Lymph node (9.3) and Pancreas (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SRP72 Gene



Protein tissue co-expression partners for SRP72 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SRP72 Gene:

SRP72

SOURCE GeneReport for Unigene cluster for SRP72 Gene:

Hs.237825

Evidence on tissue expression from TISSUES for SRP72 Gene

  • Liver(4.5)
  • Nervous system(4)
  • Lung(2.8)
  • Intestine(2.3)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SRP72 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • lymphatic
Organs:
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with SRP72: view

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 SRP72 Gene

Orthologs for SRP72 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SRP72 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRP72 33
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia SRP72 33 34
  • 94.78 (n)
cow
(Bos Taurus)
Mammalia SRP72 33 34
  • 93.08 (n)
rat
(Rattus norvegicus)
Mammalia Srp72 33
  • 89.92 (n)
mouse
(Mus musculus)
Mammalia Srp72 33 16 34
  • 89.72 (n)
oppossum
(Monodelphis domestica)
Mammalia SRP72 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRP72 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRP72 33 34
  • 77.12 (n)
lizard
(Anolis carolinensis)
Reptilia SRP72 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srp72 33
  • 73.56 (n)
Str.6362 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5137 33
zebrafish
(Danio rerio)
Actinopterygii srp72 33 34
  • 68.65 (n)
wufb49d08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4239 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001939 33
  • 49.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta Srp72 33 34
  • 48.31 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F08D12.1 33
  • 44.25 (n)
F08D12.1 35 34
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67680 33
  • 46.94 (n)
rice
(Oryza sativa)
Liliopsida Os01g0889000 33
  • 46.58 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
CSA.6713 34
  • 41 (a)
OneToMany
Species where no ortholog for SRP72 was found in the sources mined by GeneCards:
  • 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 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 SRP72 Gene

ENSEMBL:
Gene Tree for SRP72 (if available)
TreeFam:
Gene Tree for SRP72 (if available)

Paralogs for SRP72 Gene

Pseudogenes.org Pseudogenes for SRP72 Gene

genes like me logo Genes that share paralogs with SRP72: view

No data available for Paralogs for SRP72 Gene

Variants for SRP72 Gene

Sequence variations from dbSNP and Humsavar for SRP72 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs387907189 Pathogenic, Bone marrow failure syndrome 1 (BMFS1) [MIM:614675] 56,476,680(+) TTGCC(A/G)CCGTT reference, missense
rs587776907 Pathogenic 56,484,842(+) GCACA(-/CA)AAAGC reference, frameshift-variant
rs111673705 Likely benign 56,467,693(+) TGAAC(A/C/G/T)GGTAT upstream-variant-2KB, reference, synonymous-codon, missense
rs112496764 Likely benign 56,469,687(+) GCCCT(G/T)CATTG reference, synonymous-codon
rs143643243 Likely benign 56,500,660(+) AAAGG(A/G)ACCCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for SRP72 Gene

Variant ID Type Subtype PubMed ID
dgv5213n100 CNV gain 25217958
nsv1161086 CNV duplication 26073780
nsv478020 CNV novel sequence insertion 20440878
nsv829941 CNV loss 17160897
nsv964046 CNV duplication 23825009

Variation tolerance for SRP72 Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRP72 Gene

Human Gene Mutation Database (HGMD)
SRP72
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRP72

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRP72 Gene

Disorders for SRP72 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SRP72 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bone marrow failure syndrome 1
  • bmfs1
anterior spinal artery syndrome
  • anterior spinal artery occlusion syndrome
iritis
aplastic anemia
  • pulmonary fibrosis, idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search SRP72 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SRP72_HUMAN
  • Bone marrow failure syndrome 1 (BMFS1) [MIM:614675]: An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional. {ECO:0000269 PubMed:22541560}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SRP72

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRP72
genes like me logo Genes that share disorders with SRP72: view

No data available for Genatlas for SRP72 Gene

Publications for SRP72 Gene

  1. A truncated isoform of Ca2+/calmodulin-dependent protein kinase II expressed in human islets of Langerhans may result from trans-splicing. (PMID: 9224693) Breen MA … Ashcroft SJ (FEBS letters 1997) 2 3 22 60
  2. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. (PMID: 22541560) Kirwan M … Dokal I (American journal of human genetics 2012) 3 4 60
  3. Protein SRP68 of human signal recognition particle: identification of the RNA and SRP72 binding domains. (PMID: 16672232) Iakhiaeva E … Zwieb C (Protein science : a publication of the Protein Society 2006) 3 22 60
  4. The 72-kDa component of signal recognition particle is cleaved during apoptosis. (PMID: 9857079) Utz PJ … Anderson P (The Journal of biological chemistry 1998) 2 3 60
  5. The Signal Recognition Particle Database (SRPDB). (PMID: 9399828) Larsen N … Zwieb C (Nucleic acids research 1998) 3 22 60

Products for SRP72 Gene

Sources for SRP72 Gene

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