HMCN1 - hemicentin 1 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 83872

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

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
19696174 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in actin cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
29488390 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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
  • 5400
  • 5635 a.a.
Protein Preferred Names Protein Names

hemicentin-1

  • LOC100507250/HMCN1 fusion

HMCN1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
HMCN1 Q96RW7 ARMS2 Homo sapiens P0C7Q2
Y2H
19696174
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS06226 HMCN1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others HMCN1 NCBI