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Aliases for HMCN1 Gene

Aliases for HMCN1 Gene

  • Hemicentin 1 2 3 5
  • Fibulin-6 3 4
  • FIBL-6 3 4
  • FIBL6 3 4
  • Age-Related Macular Degeneration 1 (Senile Macular Degeneration) 2
  • EC 2.7.10.1 63
  • EC 3.6.5.5 63
  • Fibulin 6 2
  • FBLN6 3
  • ARMD1 3

External Ids for HMCN1 Gene

Previous HGNC Symbols for HMCN1 Gene

  • ARMD1

Previous GeneCards Identifiers for HMCN1 Gene

  • GC01P182436
  • GC01P183970
  • GC01P156939

Summaries for HMCN1 Gene

Entrez Gene Summary for HMCN1 Gene

  • 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]

GeneCards Summary for HMCN1 Gene

HMCN1 (Hemicentin 1) is a Protein Coding gene. Diseases associated with HMCN1 include Macular Degeneration, Age-Related, 1 and Postpartum Depression. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MYBPC2.

Gene Wiki entry for HMCN1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMCN1 Gene

Genomics for HMCN1 Gene

Regulatory Elements for HMCN1 Gene

Enhancers for HMCN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HMCN1 on UCSC Golden Path with GeneCards custom track

Promoters for HMCN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HMCN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HMCN1 Gene

Chromosome:
1
Start:
185,734,381 bp from pter
End:
186,190,953 bp from pter
Size:
456,573 bases
Orientation:
Plus strand

Genomic View for HMCN1 Gene

Genes around HMCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMCN1 Gene

Proteins for HMCN1 Gene

  • Protein details for HMCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RW7-HMCN1_HUMAN
    Recommended name:
    Hemicentin-1
    Protein Accession:
    Q96RW7
    Secondary Accessions:
    • A6NGE3
    • Q5TYR7
    • Q96DN3
    • Q96DN8
    • Q96SC3

    Protein attributes for HMCN1 Gene

    Size:
    5635 amino acids
    Molecular mass:
    613390 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71154.1; Type=Frameshift; Positions=657; Evidence={ECO:0000305}; Sequence=BAB71216.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HMCN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMCN1 Gene

Proteomics data for HMCN1 Gene at MOPED

Selected DME Specific Peptides for HMCN1 Gene

Post-translational modifications for HMCN1 Gene

  • Glycosylation at Asn 349, Asn 390, Asn 528, Asn 550, Asn 573, Asn 620, Asn 693, Asn 809, Asn 970, Asn 1158, Asn 1272, Asn 1369, Asn 1552, Asn 1929, Asn 2112, Asn 2155, Asn 2395, Asn 2689, Asn 2887, Asn 2973, Asn 3221, Asn 3300, Asn 3530, Asn 3689, Asn 3727, Asn 3812, Asn 4029, Asn 4401, Asn 4491, Asn 4606, Asn 4894, Asn 5040, Asn 5267, and Asn 5615
  • Modification sites at PhosphoSitePlus

Other Protein References for HMCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HMCN1 Gene

Gene Families for HMCN1 Gene

Suggested Antigen Peptide Sequences for HMCN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RW7

UniProtKB/Swiss-Prot:

HMCN1_HUMAN :
  • Contains 7 EGF-like domains.
Domain:
  • Contains 7 EGF-like domains.
  • Contains 44 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 nidogen G2 beta-barrel domain.
  • Contains 6 TSP type-1 domains.
  • Contains 1 VWFA domain.
genes like me logo Genes that share domains with HMCN1: view

Function for HMCN1 Gene

Enzyme Numbers (IUBMB) for HMCN1 Gene

Phenotypes for HMCN1 Gene

GenomeRNAi human phenotypes for HMCN1:
genes like me logo Genes that share phenotypes with HMCN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HMCN1

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HMCN1 Gene

Localization for HMCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMCN1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMCN1 Gene COMPARTMENTS Subcellular localization image for HMCN1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HMCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IEA --
GO:0030054 cell junction IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HMCN1: view

Pathways & Interactions for HMCN1 Gene

SuperPathways for HMCN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMCN1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HMCN1 Gene

Drugs & Compounds for HMCN1 Gene

No Compound Related Data Available

Transcripts for HMCN1 Gene

Unigene Clusters for HMCN1 Gene

Hemicentin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMCN1 Gene

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: -

Relevant External Links for HMCN1 Gene

GeneLoc Exon Structure for
HMCN1
ECgene alternative splicing isoforms for
HMCN1

Expression for HMCN1 Gene

mRNA expression in normal human tissues for HMCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMCN1 Gene

This gene is overexpressed in Artery - Aorta (x11.5), Artery - Coronary (x5.2), and Esophagus - Muscularis (x4.5).

Protein differential expression in normal tissues from HIPED for HMCN1 Gene

This gene is overexpressed in Urine (47.8) and Bone marrow mesenchymal stem cell (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HMCN1 Gene



SOURCE GeneReport for Unigene cluster for HMCN1 Gene Hs.58877

mRNA Expression by UniProt/SwissProt for HMCN1 Gene

Q96RW7-HMCN1_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells.
genes like me logo Genes that share expression patterns with HMCN1: view

Primer Products

No data available for Protein tissue co-expression partners for HMCN1 Gene

Orthologs for HMCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMCN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HMCN1 35
  • 89.58 (n)
  • 90.08 (a)
HMCN1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMCN1 35
  • 90.97 (n)
  • 91.16 (a)
HMCN1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmcn1 35
  • 85.9 (n)
  • 87.33 (a)
Hmcn1 16
Hmcn1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HMCN1 35
  • 99.51 (n)
  • 99.27 (a)
HMCN1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmcn1 35
  • 85.51 (n)
  • 87.08 (a)
oppossum
(Monodelphis domestica)
Mammalia HMCN1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMCN1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMCN1 35
  • 73.65 (n)
  • 73.98 (a)
HMCN1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMCN1 36
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hmcn1 35
  • 65.05 (n)
  • 66.8 (a)
hmcn1 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002268 35
  • 41.52 (n)
  • 31.1 (a)
worm
(Caenorhabditis elegans)
Secernentea him-4 35
  • 45.22 (n)
  • 31.7 (a)
him-4 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for HMCN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HMCN1 Gene

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

Paralogs for HMCN1 Gene

Paralogs for HMCN1 Gene

(21) SIMAP similar genes for HMCN1 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for HMCN1 Gene

genes like me logo Genes that share paralogs with HMCN1: view

Variants for HMCN1 Gene

Sequence variations from dbSNP and Humsavar for HMCN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_024811 -
rs12067376 - 186,055,511(+) TGGAT(A/G/T)AAAGA reference, missense
rs12129650 - 186,057,342(+) TTCCA(C/T)AACCT reference, missense
rs10798035 - 186,081,285(+) GATAG(A/G)GTGTT reference, missense
rs41317489 - 186,122,971(+) GCCCT(C/T)ATCTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HMCN1 Gene

Variant ID Type Subtype PubMed ID
esv2468461 CNV Deletion 19546169
esv1976790 CNV Deletion 18987734
esv2720295 CNV Deletion 23290073
esv2657798 CNV Deletion 23128226
esv2563566 CNV Deletion 19546169
esv2347927 CNV Deletion 18987734
esv23364 CNV Loss 19812545
esv2667054 CNV Deletion 23128226
esv2720306 CNV Deletion 23290073
esv2572731 CNV Deletion 19546169
nsv3866 CNV Insertion 18451855
esv2720317 CNV Deletion 23290073
esv2186053 CNV Deletion 18987734
esv2720328 CNV Deletion 23290073
esv2720339 CNV Deletion 23290073

Variation tolerance for HMCN1 Gene

Residual Variation Intolerance Score: 3.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.63; 98.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HMCN1 Gene

Human Gene Mutation Database (HGMD)
HMCN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMCN1 Gene

Disorders for HMCN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HMCN1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
postpartum depression
  • maternity blues
degeneration of macula and posterior pole
  • degeneration of macula and posterior pole of retina
retinal drusen
  • basal laminar drusen
eye disease
  • eye diseases
- elite association - COSMIC cancer census association via MalaCards
Search HMCN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HMCN1_HUMAN
  • Macular degeneration, age-related, 1 (ARMD1) [MIM:603075]: A form of age-related macular degeneration, 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 that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:14570714}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HMCN1

Genetic Association Database (GAD)
HMCN1
Human Genome Epidemiology (HuGE) Navigator
HMCN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMCN1
genes like me logo Genes that share disorders with HMCN1: view

No data available for Genatlas for HMCN1 Gene

Publications for HMCN1 Gene

  1. Analysis of the ARMD1 locus: evidence that a mutation in hemicentin-1 is associated with age-related macular degeneration in a large family. (PMID: 14570714) Schultz D.W. … Acott T.S. (Hum. Mol. Genet. 2003) 3 4 23 67
  2. Fibulin-6 expression and anoikis in human salivary gland epithelial cells: implications in Sjogren's syndrome. (PMID: 19190085) Sisto M. … Lisi S. (Int. Immunol. 2009) 3 23
  3. Anti-Ro/SSA autoantibody-mediated regulation of extracellular matrix fibulins in human epithelial cells of the salivary gland. (PMID: 19229767) Lisi S. … Sisto M. (Scand. J. Rheumatol. 2009) 3 23
  4. Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). (PMID: 17216616) Fisher S.A. … Weber B.H. (Hum. Mutat. 2007) 3 23
  5. 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. (PMID: 16885922) Seitsonen S. … JAorvelAo I. (Mol. Vis. 2006) 3 23

Products for HMCN1 Gene

Sources for HMCN1 Gene

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