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FLASH GENE

Symbol

CRIM1

contributors: npt/shn - updated : 02-05-2013

HGNC name	cysteine rich transmembrane BMP regulator 1 (chordin-like)
HGNC id	2359

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	194.91 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D2S2374 - D2S1788 - CRIM1 - D2S2186 - D2S2163 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016441.2 17 - 5626 NP_057525 - 1036 - -

EXPRESSION

Type

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 Cardiovascular heart       moderately Homo sapiens Adult NM_016441.2 Endocrine pancreas       moderately Homo sapiens Adult NM_016441.2 Nervous brain       highly Mus musculus Fetal NM_015800   brain       lowly Homo sapiens Adult NM_016441.2   spinal cord       highly Homo sapiens Fetal NM_015800 Reproductive female system placenta     highly Homo sapiens Adult NM_016441.2 Respiratory lung       moderately Homo sapiens Adult NM_016441.2 Urinary kidney       highly Homo sapiens Adult NM_016441.2 Visual eye lens     highly Mus musculus Fetal NM_015800   eye anterior segment cornea     Mus musculus Fetal NM_015800

cell lineage	expressed by endothelial cells of the inner lining of blood vessels in vivo
	expressed in the glomerular podocytes and is associated with the insertional region of the filtration slit diaphragm of the podocyte pedicles
cell lines
fluid/secretion

at STAGE

Text	detected in developing ocular tissues including corneal and conjunctival epithelia, corneal endothelium, retinal pigmented epithelium, ciliary and iridial retinae and ganglion cells
	expressed developing mouse urogenital system: ureteric tree, early condensing mesenchyme and distal comma-shaped bodies, the proximal end of the S-shaped bodies, and in the Sertoli cells of the developing testis

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an IGF-binding protein motif and multiple cysteine-rich repeats

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Crim1, Mus musculus
	ortholog to Crim1, Rattus norvegicus
	ortholog to crim1, Danio rerio
	ortholog to CRIM1, Pan troglodytes

Homologene

FAMILY

CATEGORY

regulatory , signaling

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	localized to the centrosome

basic FUNCTION	a role in central nervous system development possibly via growth factor binding
	a possible role in capillary formation and maintainance during angiogenesis
	modulates one morphogenetic protein activity by affecting its processing and delivery to the cell surface
	binds and regulates the action of several cellular and viral proteins to maintain normal centrosome duplication
	role in the regulation of somitic and vascular development
	a role in the regulation of VEGF-A action, and regulates the delivery of VEGF-A by the podocytes to the endothelial cells
	plays a role in exporting proteins containing nuclear export signals (NESs) from the nucleus to the cytoplasm
	might interact with pericentrin and regulate the localization and function of pericentrin at centrosomes
	involved in endothelial maintenance and integrity of the extraglomerular vasculature
	required for placental development, and is necessary for the proper differentiation of sinusoidal-trophoblast giant cells and glycogen trophoblast cells
	plays a role in the BRCA1 transport or dynamics in the cell
	acts as a chaperone to target BRCA1 to a functionally relevant subcompartment(s) of the centrosome
	implicated Crim1 in papillary extension and pelvic smooth muscle contractility

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	BMP4 and BMP7
	VEGF-A
	Ran-GTP
	ATXN7 and CACNA1A
	beta-catenin and cadherins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	morpholino knockdown of crim1 showed some evidence of ventralisation, including expansion of the intermediate cell mass , reduction in head size bent tails and disruption to the somites and notochord
	Crim1(KST264/KST264) mice displayed perinatal lethality, syndactyly, eye, and kidney abnormalities
	Crim1(KST264/KST264) mice displayed abnormal glomerular development, illustrated by enlarged capillary loops, podocyte effacement, and mesangiolysis
	Deficiency of Crm1 provoked by RNAi decreased the spindle poles localization of pericentrin and gamma-tubulin complex, coupled with mitotic defects
	adult Crim1(KST264/KST264) mice display renal vascular defects extend to the peritubular microvasculature with abnormal endothelium and collagen deposition between the endothelium and the tubular basement membrane
	Crim1(KST264/KST264) mutant placentae displayed hypoplasia from 13.5 dpc, and altered structure from 15.5 dpc, including alterations in cell number in both the junctional and labyrinth zones
	In the frog Xenopus laevis, loss of function studies using CRIM1 antisense morpholino oligonucleotides resulted in a failure of neural development
	Crim1(KST264/KST264) mice present with hydronephrosis, suggesting obstructive nephropathy