1. Gene
  2. NHS - NHS actin remodeling regulator Gene

NHS - NHS actin remodeling regulator Gene

中文名称:NHS 肌动蛋白重塑调节因子

种属: Homo sapiens

同用名: CXN; SCML1; CTRCT40

基因 ID: 4810 | 基因类型: protein coding

关于 NHS

Cytogenetic location: Xp22.2-p22.13 Genomic coordinates (GRCh38): X:17,375,200-17,735,994 (from NCBI)

This gene has 9 transcripts (splice variants), 273 orthologues, 3 paralogues and is associated with 6 phenotypes. Broad expression in endometrium (RPKM 2.8), kidney (RPKM 2.8) and 22 other tissues.

功能概要

该基因编码的蛋白质含有四个保守的核定位信号。编码的蛋白质在眼睛、牙齿、颅面和大脑发育中发挥作用,它可以调节肌动蛋白重塑和细胞形态。该基因的突变已被证明会导致 Nance-Horan 综合征和 X 连锁白内障 40。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

NHS 基因产物(4)

mRNA Protein Name
NM_001136024.4 NP_001129496.1 actin remodeling regulator NHS isoform 2
NM_001291867.2 NP_001278796.1 actin remodeling regulator NHS isoform 3
NM_001291868.2 NP_001278797.1 actin remodeling regulator NHS isoform 4
NM_198270.4 NP_938011.1 actin remodeling regulator NHS isoform 1

NHS 蛋白结构

NHS

NHS: NHS-like (418 - 1053)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1630 a.a.
蛋白主名 其他名称

actin remodeling regulator NHS

Nance-Horan syndrome protein

Nance-Horan syndrome (congenital cataracts and dental anomalies)

关联疾病

疾病名称 别名
Nance-Horan Syndrome

NHS

Cataract-Dental Syndrome

Cataract, X-Linked, With Hutchinsonian Teeth

Mesiodens-Cataract Syndrome

Cataract X-Linked With Hutchinsonian Teeth

Cataract Dental Syndrome

Mesiodens Cataract Syndrome

Cataract 40

CTRCT40

Cataract 40 With Or Without Microcornea

Cct

Cataract, Congenital, X-Linked

Cataract 40, X-Linked

Cataract, Congenital, With Microcornea Or Slight Microphthalmia

Cxn

Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes

Cataract 40 X-Linked

Cataract Congenital X-Linked

Cataract, Total Congenital

Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes

Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes

X-Linked Congenital Cataract

Cataract, Type 40

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Early-Onset Nuclear Cataract
Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome

Mac

Microphthalmia With Colobomatous Cyst

Microphthalmia-Anophthalmia-Coloboma Syndrome

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia And Mental Deficiency

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

Epidermolysis Bullosa Simplex 5a, Ogna Type

Epidermolysis Bullosa Simplex, Ogna Type

EBS5A

Ebsog

Epidermolysis Bullosa Simplex Ogna Type

Ebs-Og

Ebs-O

Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement

Plec-Related Intermediate Ebs Without Extracutaneous Involvement

Ebs1

Ebso

Epidermolysis Bullosa Simplex 1

O-Ebs

Simplex Epidermolysis Bullosa_ogna Type

Cataract 28

CTRCT28

Cataract, Age-Related Cortical, 1

Arcc1

Cataract 28, Age-Related Cortical, Susceptibility To

Cataract 28, Age-Related Cortical

Age-Related Cortical Cataract 1

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type

Epidermolysis Bullosa Letalis

JEB1B

Epidermolysis Bullosa Junctionalis, Herlitz Type

Jeb-Herlitz Type

Herlitz-Pearson-Type Epidermolysis Bullosa

Junctional Epidermolysis Bullosa Herlitz Type

Jeb-H

Junctional Epidermolysis Bullosa Generalisata Gravis

Junctional Epidermolysis Bullosa, Herlitz-Pearson Type

Epidermolysis Bullosa, Junctional, Generalized Severe

Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type

Herlitz Type Epidermolysis Bullosa Junctionalis

Severe Generalized Junctional Epidermolysis Bullosa

Junctional Epidermolysis Bullosa, Herlitz Type

Severe Generalized Jeb

Epidermolysis Letalis

Junctional Epidermolysis Bullosa Gravis

Junctional Epidermolysis Bullosa Herlitz-Pearson Type

Herlitz Disease

Hypotrichosis 1

HYPT1

Hhs

Hts

Hypotrichosis Simplex

Hypotrichosis Simplex, Generalized, Hereditary

Hereditary Generalized Hypotrichosis Simplex

Generalized Hypothricosis Simplex

Hypotrichosis Simplex Hereditary

Hypotrichosis, Type 1

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis

Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type

Rdeb, Hallopeau-Siemens Type

Severe Generalized Rdeb

Severe Generalized Recessive Dystrophic Epidermolysis Bullosa

Rdeb Generalisata Gravis

Rdeb, Severe Generalized

Rdeb-Sev Gen

Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized

Hallopeau-Siemens Disease

Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

EBS1A

Ebsdm

Epidermolysis Bullosa Simplex Dowling-Meara Type

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Dm

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Ebs-Gen Sev

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Generalized Severe Epidermolysis Bullosa Simplex

Dowling-Meara Type Epidermolysis Bullosa Simplex

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Dm-Ebs

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Herpetiformis Dowling-Meara

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]

Ophthalmia Neonatorum

Gonococcal Conjunctivitis

Gonococcal Ophthalmia Neonatorum

Neonatal Conjunctivitis

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus NHS MGD MGI:2684894
Macaca mulatta NHS VGNC VGNC:75348
Felis catus NHS VGNC VGNC:68494
Bos taurus NHS VGNC VGNC:32071
Canis familiaris NHS VGNC VGNC:43804
Rattus norvegicus NHS RGD RGD:1561818