2. Gene
  3. HMCN1 - hemicentin 1 Gene

HMCN1 - hemicentin 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：半球蛋白 1

种属: Homo sapiens

同用名: ARMD1; FBLN6; FIBL6; FIBL-6

基因 ID: 83872 | 基因类型: protein coding

关于 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.

功能概要

该基因编码免疫球蛋白超家族的一个大细胞外成员。秀丽隐杆线虫中的一种类似蛋白质在特定的细胞外位点形成长而精细的轨道，这些轨道参与许多过程，例如种系合胞体的稳定、机械感觉神经元在表皮上的锚定以及表皮中半桥粒的组织。该基因的突变可能与年龄相关性黄斑变性有关。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_031935.3 NP_114141.2 hemicentin-1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19696174 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin cytoskeleton organization IMP
IMP: 通过突变表型推断
29488390 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HMCN1 蛋白结构

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.
蛋白主名 其他名称

hemicentin-1

LOC100507250/HMCN1 fusion

HMCN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HMCN1 Q96RW7 ARMS2 Homo sapiens P0C7Q2
Y2H
19696174
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06226 HMCN1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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