ENSG00000143341


Homo sapiens

Features
Gene ID: ENSG00000143341
  
Biological name :HMCN1
  
Synonyms : hemicentin 1 / HMCN1 / Q96RW7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q25.3
Gene start: 185734551
Gene end: 186190949
  
Corresponding Affymetrix probe sets: 235944_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000271588
Ensembl peptide - ENSP00000406205
NCBI entrez gene - 83872     See in Manteia.
OMIM - 608548
RefSeq - XM_017002437
RefSeq - NM_031935
RefSeq - XM_011510038
RefSeq Peptide - NP_114141
swissprot - Q96RW7
swissprot - Q5TCP6
Ensembl - ENSG00000143341
  
Related genetic diseases (OMIM): 603075 - {Macular degeneration, age-related, 1}, 603075
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmcn1ENSDARG00000016936Danio rerio
 HMCN1ENSGALG00000031129Gallus gallus
 Hmcn1ENSMUSG00000066842Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HMCN2 / Q8NDA2 / hemicentin 2ENSG0000014835740
TTN / titin / Q8WZ42ENSG0000015565719
OBSCN / Q5VST9 / obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFENSG0000015435817
MXRA5 / Q9NR99 / matrix remodeling associated 5ENSG0000010182510
IGSF10 / Q6WRI0 / immunoglobulin superfamily member 10ENSG000001525809
OBSL1 / O75147 / obscurin like 1ENSG000001240066
MYPN / Q86TC9 / myopalladinENSG000001383474
PALLD / Q8WX93 / palladin, cytoskeletal associated proteinENSG000001291164
MYOT / Q9UBF9 / myotilinENSG000001207292


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR001881  EGF-like calcium-binding domain
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR006605  G2 nidogen/fibulin G2F
 IPR007110  Immunoglobulin-like domain
 IPR009017  Green fluorescent protein
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR013098  Immunoglobulin I-set
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR036179  Immunoglobulin-like domain superfamily
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051301 cell division IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005604 basement membrane IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031012 extracellular matrix TAS
 cellular_componentGO:0032154 cleavage furrow IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005509 calcium ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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