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FLASH GENE

Symbol

SRP72

contributors: mct - updated : 09-05-2012

HGNC name	signal recognition particle 72kDa
HGNC id	11303

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BMFS1 bone marrow failure syndrome 1
Location	4q12      Physical location : 57.333.761 - 57.369.846

DNA

TYPE	functioning gene
STRUCTURE	36.09 kb     19 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006947 19 - 3893 NP_008878 72 671 - 2006 16672232

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Endocrine parathyroid       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine tetratricopeptide-like repeats (TPRs) poised to interact with other SRP or ribosomal proteins were predicted in the N-terminal region
	a minimal region capable of forming a stable complex with an SRP RNA fragment encompassed AAs 545 to 585 of the full-length SRP72 and contained a lysine-rich cluster (KKKKKKKKGK) at postions 552 to 561 as well as a conserved Pfam motif
	a C terminal domain of interaction with SRP68

HOMOLOGY

interspecies	homolog to C.elegans F08D12.1
	ortholog to murine Srp72
	homolog to rattus Rn.36055
	homolog to Xenopus Xl.5137
	homolog to zebrafish Dr.9066

Homologene

FAMILY

SRP72 family

CATEGORY

antigen , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,ribosome
	intracellular,nucleus,nucleolus

basic FUNCTION	playing a crucial role in targeting secretory proteins to rough endoplasmic reticulum membrane
	participating in the elongation arrest function
	implicated in binding to the SRP receptor and promoting the directional translocation of newly translated proteins bearing a signal sequence into the lumen of the ER
	has at least two functions that are individually redundant and the conformation of the complex is critical for efficient completion of its biogenesis
	component of the signal recognition particle (SRP), which is responsible for arresting translation of nascent proteins that are destined for the cell membrane or extracellular secretion and transferring them to the endoplasmic reticulum (ER) for correct trafficking

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	S domain made of a unique SRP RNA sequence and SRP9, SRP14, SRP19, SRP54, SRP68, SRP72
	component of a ribonucleoprotein complex
	SRP68 and SRP72 form a heterodimer

INTERACTION

DNA

RNA	binding to 7S RNA in presence of SRP68

small molecule

protein	binding to SRPR
	SRP68-SRP72 interaction remained stable at elevated salt concentrations and engaged approximately 150 amino acids from the N-terminal region of SRP72

cell & other

binding directly to the docking protein in the endoplasmic reticulum membrane

REGULATION

repressed by

inhibitors of the MAPK pathway that down-regulate the expression of SRP72 autoantigen in Jurkat cells

Other

cleaved during apoptosis

ASSOCIATED DISORDERS

corresponding disease(s)

BMFS1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS