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Aliases for SRP72 Gene

Aliases for SRP72 Gene

  • Signal Recognition Particle 72kDa 2 3
  • Signal Recognition Particle 72 KDa Protein 3 4
  • Signal Recognition Particle 72kD 2 3
  • BMFS1 3 6
  • Signal Recognition Particle Subunit SRP72 3
  • Epididymis Luminal Protein 103 3
  • HEL103 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 72kDa) is a Protein Coding gene. Diseases associated with SRP72 include bone marrow failure syndrome 1 and bone marrow failure, familial. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Gene Expression. GO annotations related to this gene include 7S 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

No data available for 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SRP72 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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};

    Alternative splice isoforms for SRP72 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRP72 Gene

Proteomics data for SRP72 Gene at MOPED

Post-translational modifications for SRP72 Gene

  • Ubiquitination at Lys62, Lys73, Lys84, Lys112, Lys325, Lys383, Lys391, Lys475, Lys504, and Lys569
  • Modification sites at PhosphoSitePlus

Other Protein References for SRP72 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SRP72 Gene

Domains for SRP72 Gene

Gene Families for SRP72 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Graphical View of Domain Structure for InterPro Entry

O76094

UniProtKB/Swiss-Prot:

SRP72_HUMAN :
  • O76094
Domain:
  • The C-terminus is essential for the interaction with the SRP68/7S RNA complex.
Family:
  • Belongs to the SRP72 family.
Similarity:
  • Contains 5 TPR repeats.
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

Gene Ontology (GO) - Molecular Function for SRP72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005047 signal recognition particle binding IPI 17254600
GO:0005515 protein binding --
GO:0008312 7S RNA binding IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SRP72: view
genes like me logo Genes that share phenotypes with SRP72: view

Animal Model Products

CRISPR Products

miRNA for SRP72 Gene

miRTarBase miRNAs that target SRP72

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SRP72

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SRP72 Gene COMPARTMENTS Subcellular localization image for SRP72 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
nucleus 4
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SRP72 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IDA 22541560
GO:0005786 signal recognition particle, endoplasmic reticulum targeting IDA 18089836
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SRP72: view

Pathways 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:0006412 translation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
GO:0010467 gene expression TAS --
GO:0042493 response to drug IDA 18089836
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SRP72: view

Transcripts for SRP72 Gene

Unigene Clusters for SRP72 Gene

Signal recognition particle 72kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SRP72

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SRP72

Flow Cytometry Products

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 for SRP72 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SRP72 Gene

SOURCE GeneReport for Unigene cluster for SRP72 Gene Hs.237825

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

In Situ Assay Products

No data available for 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 35
  • 99.8 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia SRP72 35
  • 93.08 (n)
  • 97.4 (a)
SRP72 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRP72 35
  • 94.78 (n)
  • 98.81 (a)
SRP72 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Srp72 35
  • 89.72 (n)
  • 96.34 (a)
Srp72 16
Srp72 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRP72 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SRP72 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srp72 35
  • 89.92 (n)
  • 96.79 (a)
chicken
(Gallus gallus)
Aves SRP72 35
  • 77.12 (n)
  • 86.85 (a)
SRP72 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRP72 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5137 35
tropical clawed frog
(Silurana tropicalis)
Amphibia srp72 35
  • 73.56 (n)
  • 79.33 (a)
Str.6362 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4239 35
zebrafish
(Danio rerio)
Actinopterygii srp72 35
  • 68.65 (n)
  • 74.61 (a)
srp72 36
  • 73 (a)
OneToOne
wufb49d08 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001939 35
  • 49.29 (n)
  • 41.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta Srp72 35
  • 48.31 (n)
  • 42.29 (a)
Srp72 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F08D12.1 35
  • 44.25 (n)
  • 31.43 (a)
F08D12.1 36
  • 31 (a)
OneToOne
F08D12.1 37
  • 27 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G67680 35
  • 46.94 (n)
  • 35.21 (a)
rice
(Oryza sativa)
Liliopsida Os01g0889000 35
  • 46.58 (n)
  • 34.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
CSA.6713 36
  • 41 (a)
OneToMany
Species with no ortholog for SRP72:
  • 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 MAF
rs7762 -- 56,502,303(+) TTCCT(A/G)AATAT utr-variant-3-prime
rs10051 -- 56,502,034(+) AGATA(C/T)GGCCT utr-variant-3-prime
rs10518 -- 56,502,641(+) AGACC(C/T)AGTGT utr-variant-3-prime
rs11610 -- 56,474,426(+) TATAA(C/T)GTGCA intron-variant
rs14211 -- 56,502,593(+) CCATG(A/G)AAGAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv829941 CNV Loss 17160897

Relevant External Links for SRP72 Gene

HapMap Linkage Disequilibrium report
SRP72
Human Gene Mutation Database (HGMD)
SRP72

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

Disorders for SRP72 Gene

(1) OMIM Diseases for SRP72 Gene (602122)

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.

(2) University of Copenhagen DISEASES for SRP72 Gene

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

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 M.A. … Ashcroft S.J. (FEBS Lett. 1997) 2 3 23
  2. The Signal Recognition Particle Database (SRPDB). (PMID: 9399828) Larsen N. … Zwieb C. (Nucleic Acids Res. 1998) 3 23
  3. Protein SRP68 of human signal recognition particle: identification of the RNA and SRP72 binding domains. (PMID: 16672232) Iakhiaeva E. … Zwieb C. (Protein Sci. 2006) 3 23
  4. The 72-kDa component of signal recognition particle is cleaved during apoptosis. (PMID: 9857079) Utz P.J. … Anderson P. (J. Biol. Chem. 1998) 2 3
  5. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. (PMID: 22541560) Kirwan M. … Dokal I. (Am. J. Hum. Genet. 2012) 3 4

Products for SRP72 Gene

Sources for SRP72 Gene

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