Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

HMCN1

contributors: mct - updated : 05-06-2013

HGNC name	hemicentin-1
HGNC id	19194

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q25.3      Physical location : 185.703.682 - 186.160.085
Synonym name	fibulin 6
Synonym symbol(s)	FLJ14438, AMD, ARMD1, AXPC1, FBLN6, FIBL-6, FIBL6, GS1-174L6.1, PCA, PCARP

DNA

TYPE	functioning gene
STRUCTURE	456.40 kb     107 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031935 107 - 18212 NP_114141 - 5635 - 2003 14570714

EXPRESSION

Type

widely

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           mouth tongue     highly Hearing/Equilibrium ear       highly Nervous brain         Respiratory lung           respiratory tract larynx     highly Urinary kidney         Visual eye lacrimal gland

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven EGF-like domains, and EGF repeats 4 and 5 are required for the hemicentin-dependent assembly
	44 Ig-like C2-type (immunoglobulin-like) domains
	one nidogen G2 beta-barrel domain
	six TSP type-1 domains
	one VWFA domain

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to rattus LOC289094

Homologene

FAMILY

immunoglobulin superfamily

CATEGORY

structural protein , receptor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane,junction

basic FUNCTION

hemicentin tracks facilitate mechanosensory neuron anchorage to the epidermis, gliding of the developing gonad along epithelial basement membranes and germline cellularization

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	calcium Ca2+
	ATP binding

protein

Fibrillin2 is an indispensable interaction partner of HMCN1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to age-related macular degeneration (see ARMD1)

Variant & Polymorphism other	Gln5345Arg mutation increasing the risk of age-related macular degeneration

Candidate gene	FBLN6
Marker
Therapy target

ANIMAL & CELL MODELS