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FLASH GENE

Symbol

LARP7

contributors: mct - updated : 18-06-2018

HGNC name	La ribonucleoprotein domain family, member 7
HGNC id	24912

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALAZS Alazami syndrome
Location	4q25      Physical location : 113.558.119 - 113.578.741
Synonym name	La-related protein 7
	P-TEFb-interaction protein for 7SK stability
Synonym symbol(s)	HDCMA18P, MGC104360, PIP7S, DKFZP564K112, ALAZS

DNA

TYPE	functioning gene
STRUCTURE	20.63 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	two transcripts encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001267039 15 - 2500 NP_001253968 - 589 - 2015 25863285 NM_016648 13 - 2303 NP_057732 66.9 582 - 2015 25863285 NM_015454 13 - 2175 NP_056269 66.9 582 - 2015 25863285

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 liver       highly Endocrine neuroendocrine pituitary     highly Urinary kidney       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	LARP7 N-terminal La module binds and protects the 3' end from degradation
	C-terminal domain (CTD), is essential for 7SK RNA stability and assembly with CCNT1, and contains an xRRM, a class of atypical RRM first identified in the Tetrahymena thermophila telomerase , that binds to the 3&
	900; stem loop of 7SK and inhibits the methyltransferase activity of MEPCE through a C-terminal MEPCE interaction domain (MID)

HOMOLOGY

interspecies

homolog to Drosophila Mxc

Homologene

FAMILY

LARP family

CATEGORY

chaperone/stress , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm,nuclear bodies

basic FUNCTION	having a role in RN7SK-mediated regulation of transcription
	negative transcriptional regulator of polymerase II genes, acting by means of the RN7SK system
	regulates CCNT1 function during cell differentiation, development and cancer progression
	MEPCE and LARP7 act cooperatively to stabilize 7SK and maintain the integrity of 7SK snRNP
	LARP7 suppresses CCNT1 activity to inhibit breast cancer progression and metastasis
	MEPCE and LARP7, participates in the regulation of the transcription elongation by RNA-polymerase II in higher eukaryotes
	is required for telomerase activity
	LARP7 family is a conserved factor in telomere maintenance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	is a constitutive component of the 7SK snRNP and localizes to the 3' terminus of the 7SK long noncoding RNA
	CCNT1 is stored in the 7SK ribonucleoprotein (RNP) that contains the three nuclear proteins HEXIM1, LARP7, and MEPCE

INTERACTION

DNA

RNA

small molecule

protein	binds and stabilizes nearly all the nuclear 7SK via 3' -UUU-OH, leading to the sequestration and inactivation of CCNT1
	LARP7 interacts with a poly(A) polymerase TUT1 to maintain LIN28A mRNA stability

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ALAZS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS