Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
HMCN1 hemicentin 1	ARMD1 , FBLN6 , FIBL6 , FIBL-6	Homo sapiens	108	protein-coding	IGSF21 , NECTIN3 , NECTIN1 , NECTIN4 , PVR		608548

Summary

This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005509	enables calcium ion binding	IEA

Component (10)

Go ID	Value	Evidence
0005912	is_active_in adherens junction	IBA
0005604	located_in basement membrane	ISS
0005938	located_in cell cortex	IEA
0032154	located_in cleavage furrow	IEA
0062023	located_in collagen-containing extracellular matrix	HDA
0062023	is_active_in collagen-containing extracellular matrix	IBA
0062023	colocalizes_with collagen-containing extracellular matrix	TAS
0005737	located_in cytoplasm	ISS
0070062	located_in extracellular exosome	HDA
0005927	located_in muscle tendon junction	ISS

Process (7)

Go ID	Value	Evidence
0030036	involved_in actin cytoskeleton organization	IMP
0071711	involved_in basement membrane organization	ISS
0051301	involved_in cell division	IEA
0007157	involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
0007156	involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA
0009617	involved_in response to bacterium	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - HMCN1 (3 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_LO4WQE	Otolemur garnettii	Primates	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_M67SZG	Dasypus novemcinctus	Cingulata	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004
GL_ZJWANB	Tupaia chinensis	Scandentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004