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FLASH GENE

Symbol

CSH1

contributors: - updated : 03-05-2007

HGNC name	chorionic somatomammotropin hormone 1 (placental lactogen)
HGNC id	2440

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
text	located at the growth hormone locus with four other related genes in the same transcriptional orientation
STRUCTURE	1.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see GH@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing initiation site 879 25 217 placenta,secreted Hitchins variant 2 - splicing initiation site 1132 28.8 256 non secreted Hitchins diverging C terminus putative TM domain variant 3 - splicing initiation site 594 13.9 122 placenta Hitchins retaining the signal sequence internal deletion; lacking exons 2, 3 variant 4 - splicing initiation site 433 2.4 23 non secreted Hitchins lacking exons 2,3,4

EXPRESSION

Type

constitutive of

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 Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta, chorion

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

HOMOLOGY

interspecies

homolog to C.elegans C17B7.12

intraspecies

paralog to GH

Homologene

FAMILY

somatotrophin/prolactin family

CATEGORY

secretory , signaling hormone

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION

playing an important role in growth control

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

hormonal , signal transduction

cell-cell signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

upregulated during development

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	hemizygosity of CSH1 in our population in comparison to controls indicates a role for CSH1 haploinsufficiency in the etiology of growth retardation
Marker
Therapy target

ANIMAL & CELL MODELS