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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HMCN1 Gene

protein-coding   GIFtS: 53
GCID: GC01P185703

hemicentin 1

(Previous name: age-related macular degeneration 1 (senile macular degeneration)...)
(Previous symbol: ARMD1)
 Explore 13 diseases affiliated with
HMCN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HMCN1    

Aliases
for HMCN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hemicentin 11 2     Fibulin-63
FIBL61 2 3 5     Hemicentin-11
FIBL-61 2 3     Fibulin-63
ARMD11 2 5     EC 2.7.10.18
FBLN61 2 5     EC 3.6.5.58
Age-Related Macular Degeneration 1 (Senile Macular Degeneration)1     

External Ids:    HGNC: 191941   Entrez Gene: 838722   Ensembl: ENSG000001433417   OMIM: 6085485   UniProtKB: Q96RW73   

Export aliases for HMCN1 gene to outside databases

Previous GC identifers: GC01P182436 GC01P183970 GC01P156939


Summaries
for HMCN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HMCN1:
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)

Gene Wiki entry for HMCN1


Genomic Views
for HMCN1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMCN1 gene promoter:
         TBP   LHX3b/Lhx3b   Nkx2-5   PPAR-alpha   AREB6   TFIID   FOXJ2 (long isoform)   LHX3a/Lhx3a   FOXO1a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HMCN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HMCN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMCN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q25.3-q31.1   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25.3-q31.1

HMCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMCN1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P185703:  view genomic region     (about GC identifiers)

Start:
 185,703,683 bp from pter      End:
 186,160,085 bp from pter
Size:
 456,403 bases      Orientation:
 plus strand

Proteins
for HMCN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7 (See protein sequence)
Recommended Name: Hemicentin-1 precursor  
Size: 5635 amino acids; 613390 Da
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
Sequence caution: Sequence=BAB71154.1; Type=Frameshift; Positions=657; Sequence=BAB71216.1; Type=Erroneous initiation;
Secondary accessions: A6NGE3 Q5TYR7 Q96DN3 Q96DN8 Q96SC3
Alternative splicing: 3 isoforms:  Q96RW7-1   Q96RW7-2   Q96RW7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMCN1: NX_Q96RW7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96RW7

    • 2 DME Specific Peptides for HMCN1 (Q96RW7)
     SLSWYKD  YSCVASN 

    HMCN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_114141.2  
    ENSEMBL proteins: 
     ENSP00000271588   ENSP00000406205   ENSP00000356462  

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    Uscn Proteins for HMCN1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005604basement membrane IEA--
    GO:0005938cell cortex IEA--
    GO:0030054cell junction IEA--
    GO:0031012colocalizes with extracellular matrix TAS--


    HMCN1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HMCN1

    Protein Domains /
    Families
    for HMCN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HMCN1 for domains           About GeneDecksing

    5/17 InterPro domains/families (see all 17):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR000742 EG-like_dom
     IPR013098 Ig_I-set
     IPR009017 GFP

    Graphical View of Domain Structure for InterPro Entry Q96RW7

    ProtoNet protein and cluster: Q96RW7

    5/6 Blocks protein families (see all 6):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000875 Cecropin
    IPB001881 EGF-like calcium-binding
    IPB002126 Cadherin
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
    Similarity: Contains 7 EGF-like domains
    Similarity: Contains 44 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 1 nidogen G2 beta-barrel domain
    Similarity: Contains 6 TSP type-1 domains
    Similarity: Contains 1 VWFA domain


    Function
    for HMCN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Enzyme Numbers (IUBMB): EC 3.6.5.52 EC 2.7.10.12

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMCN1
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate HMCN1 (see all 16):
    hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-let-7a-2* hsa-let-7g* hsa-miR-199b-5p hsa-miR-3121-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmid: HMCN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HMCN1 (see all 4)
    OriGene shRNA RFP: HMCN1
    OriGene siRNA: HMCN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMCN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HMCN1

    Clone
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    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    Search LifeMap BioReagents cell lines for HMCN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMCN1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    HMCN1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for HMCN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HMCN1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HMCN1 (Q96RW73 ENSP000002715884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0050896response to stimulus IEA--


    HMCN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HMCN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMCN1
    Search CenterWatch for drugs/clinical trials and news about HMCN1 

    Transcripts
    for HMCN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HMCN1 gene: 
    NM_031935.2  

    Unigene Cluster for HMCN1:

    Hemicentin 1
    Hs.58877  [show with all ESTs]
    Unigene Representative Sequence: NM_031935
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271588(uc001grq.1) ENST00000485744(uc001grr.1) ENST00000493413
    ENST00000475585 ENST00000414277 ENST00000367492(uc001grs.1)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: HMCN1
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMCN1
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate HMCN1 (see all 16):
    hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-let-7a-2* hsa-let-7g* hsa-miR-199b-5p hsa-miR-3121-3p hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmid: HMCN1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HMCN1 (see all 4)
    OriGene shRNA RFP: HMCN1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMCN1
    Clone
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    GenScript: all cDNA clones in your preferred vector: HMCN1 (NM_031935)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMCN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMCN1

    Additional cDNA sequence: 

    AF156100.1 AJ306906.1 AK027344.1 AK056336.1 AK056557.1 AK096452.1 AL833232.1 BC139908.1 

    6 DOTS entries:

    DT.426313  DT.121423978  DT.95113331  DT.100681143  DT.91664556  DT.97825451 

    24/49 AceView cDNA sequences (see all 49):

    AK096452 BQ425569 AL833232 BU622124 NM_031935 AJ306906 BQ722715 AK027344 
    D62730 AK056336 CA423948 BQ006694 BX503106 AI298034 BE328248 AF156100 
    BX505675 AK056557 BF356611 AI681770 AI679767 CA420501 CD511728 CB999578 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HMCN1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b
    SP1:                                                                                                                                                      
    SP2:                                                                                                                          -                           


    ECgene alternative splicing isoforms for HMCN1

    Expression
    for HMCN1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HMCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGTAATAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HMCN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumCardiac FibroblastsEpicardium
    KidneyAfferent ArterioleJuxtaglomerular CellsKidney, Smooth Muscle
    KidneyS-shaped BodyKidney Endothelial CellsEndothelium
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Posterior foregut-like cells (A scalable, suspensi...)

    See HMCN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMCN1

    SOURCE GeneReport for Unigene cluster: Hs.58877

    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
    Tissue specificity: Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE)
    cells

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    In Situ
    Assay Products:     
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    Orthologs
    for HMCN1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for HMCN1 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HMCN11 hemicentin 1 73.64(n)
    73.98(a)    		   429823  XM_003643175.1  XP_003643223.1 
    lizard
    (Anolis carolinensis)    		 Reptilia HMCN16
    		 --
    		 74(a)
    		 1 ↔ 1
    		 GL343203.1(2588388-2828895)
    zebrafish
    (Danio rerio)    		 Actinopterygii hmcn11 hemicentin 1 65.02(n)
    66.84(a)    		   559150  NM_001190304.1  NP_001177233.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea him-41 Protein HIM-4 44.98(n)
    31.55(a)    		   181187  NM_001029411.1  NP_001024582.1 


    ENSEMBL Gene Tree for HMCN1 (if available)
    TreeFam Gene Tree for HMCN1 (if available) 

    Paralogs
    for HMCN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMCN1 gene
    VCAM12  IGSF102  ENSG000002154282  PTK72  HMCN22  MXRA52  HSPG22  
    18/23 SIMAP similar genes for HMCN1 using alignment to 2 protein entries:     HMCN1_HUMAN (see all proteins) (see all similar genes):
    DKFZp762L185    MUSK    LTBP1    FGFR3    EFEMP1    FBN1
    MATN4    LTBP2    PTPRS    LTBP4    CFP    GAS6
    LTBP3    NEGR1    PROS1    FBLN1    FBLN2    FBN2

    HMCN1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for HMCN1
    PGOHUM00000258304 PGOHUM00000258305 PGOHUM00000260536


    Genomic Variants
    for HMCN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7583 NCBI SNPs in HMCN1 are shown (see all 7583)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs66930691,2
    		C,F,H,untested196862232(+) GAGGTG/ACCAGA 2 /T /A mis121Minor allele frequency- A:0.08NS EA NA WA EU 8255
    rs413174971,2
    		C,F,untested196870163(+) TTTCCG/ATAGGT 1 -- int12Minor allele frequency- A:0.02NA EU 1442
    rs791788881,2
    		C,F,untested196918708(+) GAGCTA/GTAAAT 2 I V mis12Minor allele frequency- G:0.01WA NA 4628
    rs1378539161,2
    		C,untested196951165(+) GACCCA/GAGGGA 2 Q R mis10--------
    rs1378539151,2
    		Cuntested196987060(+) CAACAA/GTCAAG 2 I V mis10--------
    rs413174711,2
    		C,F,untested196999375(+) GTCTAA/GTGCAG 2 N S mis12Minor allele frequency- G:0.01NA EU 5871
    rs1214343821,2
    		C,Fother196828321(+) AGGACA/GACATT 2 Q R mis12Minor allele frequency- G:0.00NA EU 5869
    rs741332721,2
    		C,--156936910(+) AGCACC/ATGGAA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs49971681,2
    		C,H--156936921(+) TAGCTC/GAGGTC 1 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs120627121,2
    		C,H--156937114(+) CCACAG/ACCGCT 1 -- us2k16Minor allele frequency- A:0.00NS EA NA 422

    HapMap Linkage Disequilibrium report for HMCN1 (185703683 - 185953683 bp, first 250kb of HMCN1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for HMCN1
         9 CNVs: 97584 97583 65402 74814 74811 97585 84708 43748 84709
         3 Indels: 74813 74812 44478
    Human Gene Mutation Database (HGMD): HMCN1

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    Disorders / Diseases
    for HMCN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HMCN1 for disorders           About GeneDecksing

    OMIM gene information: 608548   
    OMIM disorders: 603075  
    UniProtKB/Swiss-Prot: HMCN1_HUMAN, Q96RW7
  • Defects in HMCN1 are a cause of age-related macular degeneration type 1 (ARMD1) [MIM:603075]. ARMD is a
    • multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most
    patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known
    as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane

    13 diseases for HMCN1:    About MalaCards
    age related macular degeneration    macular degeneration    age-related macular degeneration 1    fanconi's anemia
    maculopathy    eye disease    sjogren's syndrome    anemia
    nephropathy    atherosclerosis    neuronitis    retinitis
    age-related maculopathy

    1 disease from the University of Copenhagen DISEASES database for HMCN1:
    Age related macular degeneration
    Genetic Association Database (GAD): HMCN1
    Human Genome Epidemiology (HuGE) Navigator: HMCN1 (10 documents)

    Export disorders for HMCN1 gene to outside databases

    Publications
    for HMCN1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HMCN1 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with HMCN1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the ARMD1 locus: evidence that a mutation in hemicentin-1 is associated with age-related macular degeneration in a large family. (PubMed id 14570714)1, 2, 9 Schultz D.W.... Acott T.S. (2003)
    2. Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1. (PubMed id 15370542)1, 4, 9 Hayashi M....Allikmets R. (2004)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients. (PubMed id 15467524)1, 4 McKay G.J....Simpson D.A. (2004)
    6. Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions. (PubMed id 11222143)1, 3 Vogel B.E. and Hedgecock E.M. (2001)
    7. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). (PubMed id 17216616)1, 9 Fisher S.A....Weber B.H. (2007)
    8. Fibulin-6 expression and anoikis in human salivary gland epithelial cells: implications in Sjogren's syndrome. (PubMed id 19190085)1, 9 Sisto M....Lisi S. (2009)
    9. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. (PubMed id 16885922)1, 9 Seitsonen S....Jarvela I. (2006)
    10. Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration. (PubMed id 17057786)1, 9 Bojanowski C.M....Chan C.C. (2005)

    External Searches for HMCN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing HMCN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 83872 HGNC: 19194 AceView: FIBL-6 Ensembl:ENSG00000143341 euGenes: HUgn83872
    ECgene: HMCN1 H-InvDB: HMCN1

    Other Databases showing HMCN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HMCN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HMCN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HMCN1

    Intellectual Property
    for HMCN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HMCN1 gene:
    Search GeneIP for patents involving HMCN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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