1. Gene
  2. HMCN1 - hemicentin 1 Gene

HMCN1 - hemicentin 1 Gene

Homo sapiens

Also known as ARMD1; FBLN6; FIBL6; FIBL-6

Gene ID: 83872 | Gene type: protein coding

About HMCN1

Cytogenetic location: 1q25.3-q31.1 Genomic coordinates (GRCh38): 1:185,734,391-186,190,949 (from NCBI)

This gene has 5 transcripts (splice variants), 293 orthologues, 9 paralogues and is associated with 2 phenotypes. Broad expression in lung (RPKM 3.2), gall bladder (RPKM 2.4) and 21 other tissues.

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]

HMCN1 Products(1)

mRNA Protein Name
NM_031935.3 NP_114141.2 hemicentin-1 precursor

HMCN1 Protein Structure

VWA_2

VWA_2: von Willebrand factor type A domain (42 - 210)

I-set

I-set: Immunoglobulin I-set domain (521 - 608)

I-set

I-set: Immunoglobulin I-set domain (612 - 696)

I-set

I-set: Immunoglobulin I-set domain (709 - 789)

I-set

I-set: Immunoglobulin I-set domain (793 - 884)

I-set

I-set: Immunoglobulin I-set domain (892 - 977)

I-set

I-set: Immunoglobulin I-set domain (988 - 1068)

I-set

I-set: Immunoglobulin I-set domain (1085 - 1167)

I-set

I-set: Immunoglobulin I-set domain (1171 - 1258)

I-set

I-set: Immunoglobulin I-set domain (1280 - 1355)

I-set

I-set: Immunoglobulin I-set domain (1366 - 1447)

I-set

I-set: Immunoglobulin I-set domain (1459 - 1542)

I-set

I-set: Immunoglobulin I-set domain (1555 - 1635)

I-set

I-set: Immunoglobulin I-set domain (1651 - 1729)

I-set

I-set: Immunoglobulin I-set domain (1746 - 1822)

I-set

I-set: Immunoglobulin I-set domain (1838 - 1915)

I-set

I-set: Immunoglobulin I-set domain (1931 - 2008)

I-set

I-set: Immunoglobulin I-set domain (2012 - 2100)

I-set

I-set: Immunoglobulin I-set domain (2105 - 2191)

I-set

I-set: Immunoglobulin I-set domain (2202 - 2286)

I-set

I-set: Immunoglobulin I-set domain (2298 - 2380)

I-set

I-set: Immunoglobulin I-set domain (2392 - 2474)

I-set

I-set: Immunoglobulin I-set domain (2484 - 2567)

I-set

I-set: Immunoglobulin I-set domain (2581 - 2663)

I-set

I-set: Immunoglobulin I-set domain (2681 - 2762)

I-set

I-set: Immunoglobulin I-set domain (2790 - 2864)

I-set

I-set: Immunoglobulin I-set domain (2879 - 2960)

I-set

I-set: Immunoglobulin I-set domain (2969 - 3052)

I-set

I-set: Immunoglobulin I-set domain (3065 - 3147)

I-set

I-set: Immunoglobulin I-set domain (3166 - 3241)

I-set

I-set: Immunoglobulin I-set domain (3252 - 3336)

I-set

I-set: Immunoglobulin I-set domain (3353 - 3430)

I-set

I-set: Immunoglobulin I-set domain (3443 - 3523)

I-set

I-set: Immunoglobulin I-set domain (3536 - 3615)

I-set

I-set: Immunoglobulin I-set domain (3626 - 3709)

I-set

I-set: Immunoglobulin I-set domain (3713 - 3800)

I-set

I-set: Immunoglobulin I-set domain (3805 - 3893)

I-set

I-set: Immunoglobulin I-set domain (3897 - 3984)

I-set

I-set: Immunoglobulin I-set domain (3988 - 4075)

I-set

I-set: Immunoglobulin I-set domain (4079 - 4165)

I-set

I-set: Immunoglobulin I-set domain (4170 - 4256)

I-set

I-set: Immunoglobulin I-set domain (4260 - 4339)

I-set

I-set: Immunoglobulin I-set domain (4364 - 4435)

I-set

I-set: Immunoglobulin I-set domain (4442 - 4524)

TSP_1

TSP_1: Thrombospondin type 1 domain (4533 - 4583)

TSP_1

TSP_1: Thrombospondin type 1 domain (4590 - 4640)

TSP_1

TSP_1: Thrombospondin type 1 domain (4647 - 4697)

TSP_1

TSP_1: Thrombospondin type 1 domain (4706 - 4754)

TSP_1

TSP_1: Thrombospondin type 1 domain (4761 - 4811)

TSP_1

TSP_1: Thrombospondin type 1 domain (4819 - 4868)

G2F

G2F: G2F domain (4870 - 5055)

EGF_CA

EGF_CA: Calcium-binding EGF domain (5107 - 5145)

EGF_CA

EGF_CA: Calcium-binding EGF domain (5147 - 5190)

EGF_CA

EGF_CA: Calcium-binding EGF domain (5192 - 5228)

EGF_CA

EGF_CA: Calcium-binding EGF domain (5230 - 5270)

EGF_CA

EGF_CA: Calcium-binding EGF domain (5272 - 5313)

EGF_CA

EGF_CA: Calcium-binding EGF domain (5315 - 5354)

cEGF

cEGF: Complement Clr-like EGF-like (5452 - 5475)

  • 0
  • 900
  • 1800
  • 2700
  • 3600
  • 4500
  • 5635 a.a.
Protein Preferred Names Protein Names

hemicentin-1

LOC100507250/HMCN1 fusion

Related Diseases

Diseases Alias
Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l

CMD1L

Cardiomyopathy, Dilated 1l

Cardiomyopathy, Dilated, Type 1l

Spermatogenic Failure 24

SPGF24

Doyne Honeycomb Retinal Dystrophy

DHRD

Doyne Honeycomb Degeneration Of Retina

Dhd

Malattia Leventinese

Ml

Mlvt

Dystrophy, Retinal, Doyne Honeycomb

Basal Laminar Drusen

Drusen Of Bruch Membrane

Drusen, Cuticular

Drusen, Early Adult-Onset, Grouped

Cuticular Drusen

Early Adult-Onset Grouped Drusen

BLD

Drusen Cuticular

Drusen Early Adult-Onset Grouped

Retinal Drusen
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris HMCN1 VGNC VGNC:41706
Mus musculus HMCN1 MGD MGI:2685047
Macaca mulatta HMCN1 VGNC VGNC:73423
Bos taurus HMCN1 VGNC VGNC:29872
Rattus norvegicus HMCN1 RGD RGD:1564772