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FLASH GENE

Symbol

SEC63

contributors: mct - updated : 10-06-2011

HGNC name	SEC63 homolog (S. cerevisiae)
HGNC id	21082

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PCLD2 polycystic liver disease 2
Location	6q21      Physical location : 108.188.961 - 108.279.482
Synonym symbol(s)	DNAJL, PRO2507, SEC63L, ERdj2

DNA

TYPE	functioning gene
STRUCTURE	90.52 kb     21 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_007214 21 - 6500 - 760 - 2011 21251912

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 Digestive liver       highly Homo sapiens Endocrine pancreas       highly Hearing/Equilibrium ear inner cochlea   highly Reproductive female system uterus       Homo sapiens Respiratory respiratory tract larynx     predominantly   respiratory tract trachea     highly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately Connective adipose     highly Epithelial secretory glandular endocrine   Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte Homo sapiens Reproductive epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	in fetal liver (

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DnaJ domain
	Sec63 domain
	a conserved BRL (Brr2-like) domain in the C-terminal cytosolic region that is essential for function

HOMOLOGY

interspecies	homolog to rattus Sec63 (96.1 pc)
	homolog to murine Sec63 (96.1 pc)

Homologene

FAMILY

CATEGORY

chaperone/stress , receptor , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome
	intracellular,nucleus
text	integral membrane protein located in the rough ER

basic FUNCTION	performing post-translational protein translocation into the ER (Sec61-Sec62-Sec63 complex)
	performing the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway (Sec61-Sec62-Sec63 complex)
	acting as an endoplasmic reticulum receptor
	key component of the protein translocation machinery in the mammalian endoplasmic reticulum (ER), and involved in the post-translation processing of secretory proteins
	possible role for SEC63 in decidualization
	PRKCSH and SEC63 function in protein translocation and quality control pathways in the endoplasmic reticulum

CELLULAR PROCESS

protein, post translation, targeting

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	protein-membrane targeting

PATHWAY

metabolism

signaling

a component

component of the transmembrane complex mediating posttranslational translocation of nescent peptides across the ER

INTERACTION

DNA

RNA

small molecule

protein	binding with SEC62 to ribosome-free SEC61 complex
	binding to heat shock protein
	binding to unfolded protein
	NXN is an interaction partner of SEC63
	is linked to the Wnt signaling pathways and this interaction may be the reason why mutations in SEC63 can lead to PCLD

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCLD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS