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Aliases for HMCN1 Gene

Aliases for HMCN1 Gene

  • Hemicentin 1 2 3
  • FIBL6 3 4 6
  • Fibulin-6 3 4
  • FIBL-6 3 4
  • FBLN6 3 6
  • ARMD1 3 6
  • Age-Related Macular Degeneration 1 (Senile Macular Degeneration) 2
  • Hemicentin-1 3
  • EC 2.7.10.1 64
  • EC 3.6.5.5 64
  • Fibulin 6 2

External Ids for HMCN1 Gene

Previous Symbols for HMCN1 Gene

  • ARMD1

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. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is LTBP3.

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

Genomic Location for HMCN1 Gene

Start:
185,734,551 bp from pter
End:
186,190,953 bp from pter
Size:
456,403 bases
Orientation:
Plus strand

Genomic View for HMCN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn349, Asn390, Asn528, Asn550, Asn573, Asn620, Asn693, Asn809, Asn970, Asn1158, Asn1272, Asn1369, Asn1552, Asn1929, Asn2112, Asn2155, Asn2395, Asn2689, Asn2887, Asn2973, Asn3221, Asn3300, Asn3530, Asn3689, Asn3727, Asn3812, Asn4029, Asn4401, Asn4491, Asn4606, Asn4894, Asn5040, Asn5267, and Asn5615

Other Protein References for HMCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for HMCN1 Gene

Gene Families for HMCN1 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FBLN :Fibulins

UniProtKB/Swiss-Prot:

HMCN1_HUMAN
Domain:
  • Contains 7 EGF-like domains.:
    • Q96RW7
  • Contains 44 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q96RW7
  • Contains 1 nidogen G2 beta-barrel domain.:
    • Q96RW7
  • Contains 6 TSP type-1 domains.:
    • Q96RW7
  • Contains 1 VWFA domain.:
    • Q96RW7
genes like me logo Genes that share domains with HMCN1: view

Function for HMCN1 Gene

Enzyme Numbers (IUBMB) for HMCN1 Gene

Gene Ontology (GO) - Molecular Function for HMCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with HMCN1: view

miRNA for HMCN1 Gene

miRTarBase miRNAs that target HMCN1

No data available for Molecular function , Phenotypes , Animal Models , Transcription Factor Targeting 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
plasma membrane 3
extracellular 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HMCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005604 basement membrane IEA --
GO:0005938 cell cortex IEA --
GO:0016020 membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with HMCN1: view

Pathways for HMCN1 Gene

SuperPathways for HMCN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with HMCN1: view

No data available for Pathways by source for HMCN1 Gene

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 (11.5), Artery - Coronary (5.2), and Esophagus - Muscularis (4.5).

Integrated Proteomics: protein expression 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 expressions with HMCN1: view

Orthologs for HMCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMCN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMCN1 36
  • 99.51 (n)
  • 99.27 (a)
HMCN1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMCN1 36
  • 89.58 (n)
  • 90.08 (a)
HMCN1 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMCN1 36
  • 90.97 (n)
  • 91.16 (a)
HMCN1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmcn1 36
  • 85.9 (n)
  • 87.33 (a)
Hmcn1 16
Hmcn1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMCN1 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMCN1 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmcn1 36
  • 85.51 (n)
  • 87.08 (a)
chicken
(Gallus gallus)
Aves HMCN1 36
  • 73.65 (n)
  • 73.98 (a)
HMCN1 37
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMCN1 37
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hmcn1 36
  • 65.05 (n)
  • 66.8 (a)
hmcn1 37
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002268 36
  • 41.52 (n)
  • 31.1 (a)
worm
(Caenorhabditis elegans)
Secernentea him-4 36
  • 45.22 (n)
  • 31.7 (a)
him-4 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs584318 -- 186,174,746(-) ATTGT(A/G)ACAAG intron-variant
rs586727 -- 186,186,560(-) AAACC(A/G)ATGGT intron-variant
rs587209 -- 186,186,423(-) cagct(A/T)ccaga intron-variant
rs638046 -- 186,120,585(+) AAACT(A/T)AACTG intron-variant
rs652111 -- 186,189,108(+) TTCAC(C/T)TTTTA intron-variant

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

Relevant External Links for HMCN1 Gene

HapMap Linkage Disequilibrium report
HMCN1
Human Gene Mutation Database (HGMD)
HMCN1

Disorders for HMCN1 Gene

(1) OMIM Diseases for HMCN1 Gene (608548)

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.

(1) University of Copenhagen DISEASES for HMCN1 Gene

Relevant External Links for HMCN1

Genetic Association Database (GAD)
HMCN1
Human Genome Epidemiology (HuGE) Navigator
HMCN1
genes like me logo Genes that share disorders with HMCN1: view

Publications for HMCN1 Gene

  1. 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. (PMID: 15370542) Hayashi M. … Allikmets R. (Ophthalmic Genet. 2004) 3 23 49
  2. 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
  3. 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
  4. Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration. (PMID: 17057786) Bojanowski C.M. … Chan C.C. (Trans Am Ophthalmol Soc 2005) 3 23
  5. 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

Products for HMCN1 Gene

Sources for HMCN1 Gene

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