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FLASH GENE

Symbol

SRP54

contributors: mct - updated : 26-01-2021

HGNC name	signal recognition particle 54kDa
HGNC id	11301

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NSC8 neutropenia, severe congenital, 8, autosomal dominant
Location	14q13.2      Physical location : 35.452.103 - 35.498.771
EC.number	3.6.5.

DNA

TYPE	functioning gene
STRUCTURE	46.59 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D14S262 - D14S1071 - D14S1034 - D14S1049 - BAZ1A - SRP54 - NFKBIA - MBIP - FOXA1 - D14S875 - D14S286 - D14S278 - D14S1039

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003136 16 - 2187 NP_003127 - 504 - 2019 30649417 NM_001146282 15 - 2095 NP_001139754 - 455 - 2019 30649417

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal GTPase domain, with an RNA-bound conformation of the SRP54 GTPase domain, in which the domain is spatially well separated from the signal peptide binding site
	a NG domain forming a substantial part of the binding site for the signal sequence
	a signal sequence-binding domain (M domain), which can also be regarded as a chaperone that prevents unfavorable interactions of the hydrophobic signal peptide
	a C terminal domain binding the 7s RNA

mono polymer

heteromer , monomer , dimer

HOMOLOGY

interspecies

homolog to C.elegans f21D5-7

Homologene

FAMILY

Srp family of GTP-binding proteins

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,ribosome
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION

binding to the signal sequence of secretory and membrane proteins when they emerge from the ribosome and transferring them to translocating chain-associating membrane protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

subunit of the signal recognition particle (SRP) which is a ribonucleoprotein complex(SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9)

INTERACTION

DNA

RNA	binding to the S domain of 7S RNA SRP19 dependent

small molecule

protein	binding to SRPR
	binding to SRP19
	SRP54 interacted with both DDX58 and IFIH1 and impaired their association with MAVS

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NSC8

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS