1. Gene
  2. USH1G - USH1 protein network component sans Gene

USH1G - USH1 protein network component sans Gene

中文名称:USH1 蛋白质网络组件 sans

种属: Homo sapiens

同用名: SANS; ANKS4A

基因 ID: 124590 | 基因类型: protein coding

关于 USH1G

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,916,083-74,923,255 (from NCBI)

This gene has 2 transcripts (splice variants), 261 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 1.1), skin (RPKM 0.6) and 6 other tissues.

功能概要

该基因编码的蛋白质包含三个锚蛋白结构域、一个 I 类 PDZ 结合基序和一个无菌 alpha 基序。编码的蛋白质与 harmonin 相互作用,而 harmonin 与 1C 型亚瑟综合征有关。这种蛋白质在听觉和视觉系统的发育和维持中发挥作用,并在内耳感觉细胞形成的毛束的凝聚中发挥作用。该基因的突变与 1G 型亚瑟综合征 (USH1G) 相关。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USH1G 基因产物(2)

mRNA Protein Name
NM_001282489.3 NP_001269418.1 pre-mRNA splicing regulator USH1G isoform 2
NM_173477.5 NP_775748.2 pre-mRNA splicing regulator USH1G isoform 1

USH1G 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (38 - 119)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (393 - 445)

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  • 461 a.a.
蛋白主名 其他名称

pre-mRNA splicing regulator USH1G

Usher syndrome type-1G protein

Usher syndrome 1G (autosomal recessive)

关联疾病

疾病名称 别名
Usher Syndrome, Type Ig

Usher Syndrome Type 1g

USH1G

Usher Syndrome, Type 1g

Usher Syndrome Type Ig

Usher Syndrome 1g

Usher'S Syndrome Type 1g

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Usher Syndrome Type 2

Ush2

Usher Syndrome Type Ii

Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii

Usher Syndrome, Type Ic

USH1C

Usher Syndrome Type 1c

Usher Syndrome, Type 1c

Usher Syndrome Type I Acadian Variety

Usher Syndrome Type Ic

Usher Syndrome, Type I, Acadian Variety

Usher Syndrome 1c

Acadian Usher Syndrome

Usher'S Syndrome Type 1c

Deafness, Autosomal Dominant 11

DFNA11

Autosomal Dominant Nonsyndromic Deafness 11

Autosomal Dominant Deafness 11

Deafness, Autosomal Dominant, 11

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11

Deafness, Autosomal Dominant, Type 11

Deafness, Autosomal Recessive 57

DFNB57

Autosomal Recessive Nonsyndromic Deafness 57

Autosomal Recessive Deafness 57

Deafness, Autosomal Recessive, 57

Deafness, Autosomal Recessive, Type 57

Deafness, Autosomal Recessive 23

DFNB23

Autosomal Recessive Nonsyndromic Deafness 23

Autosomal Recessive Deafness 23

Deafness, Autosomal Recessive, 23

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23

Deafness, Autosomal Recessive, Type 23

Usher Syndrome, Type Iid

Usher Syndrome Type 2d

USH2D

Usher Syndrome, Type 2d

Usher Syndrome Type Iid

Usher Syndrome 2d

Usher Syndrome, Type Ii

Leber Congenital Amaurosis With Early-Onset Deafness

LCAEOD

Deafness, Autosomal Recessive 2

DFNB2

Neurosensory Nonsyndromic Recessive Deafness 2

Nsrd2

Autosomal Recessive Nonsyndromic Deafness 2

Deafness, Autosomal Recessive, Type 2

Autosomal Recessive Deafness 2

Deafness, Autosomal Recessive, 2

Deafness Neurosensory Autosomal Recessive 2

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2

Deafness, Autosomal Recessive 2, Neurosensory

Usher Syndrome, Type If

Usher Syndrome Type 1f

USH1F

Usher Syndrome, Type 1f

Usher Syndrome Type If

Usher Syndrome 1f

Usher'S Syndrome Type 1f

Deafness, Autosomal Recessive 12

DFNB12

Deafness, Autosomal Recessive 12, Modifier Of

Autosomal Recessive Nonsyndromic Deafness 12

Autosomal Recessive Deafness 12

Deafness, Autosomal Recessive, 12

Congenital Neurosensory Deafness Autosomal Recessive 12

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

Deafness, Autosomal Recessive, Type 12

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Deafness, Autosomal Dominant 25

DFNA25

Autosomal Dominant Nonsyndromic Deafness 25

Autosomal Dominant Deafness 25

Deafness, Autosomal Dominant, 25

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25

Deafness, Autosomal Dominant, Type 25

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

ATS-MR

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Chromosome Xq22.3 Telomeric Deletion Syndrome

Amme Syndrome

Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

Usher Syndrome, Type Id

Usher Syndrome Type 1d

USH1D

Usher Syndrome, Type 1d

Usher Syndrome Type Id

Usher Syndrome, Type Id/F, Digenic

Usher Syndrome, Type 1d/F Digenic

Usher Syndrome 1d

Usher'S Syndrome Type 1d

Usher Syndrome 1d/F

USH1DF

Ush1d/F

Usher'S Syndrome Type 1h

Usher Syndrome 1h

Usher Syndrome Type Ih

Usher Syndrome, Type 1d/F

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Usher Syndrome, Type Iia

Usher Syndrome Type 2a

USH2A

Usher Syndrome, Type 2a

Usher Syndrome Type Iia

Retinal Disease In Usher Syndrome Type Iia, Modifier Of

Us2

Ush2

Usher Syndrome 2a

Usher'S Syndrome Type 2a

Ushiia

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Eye Degenerative Disease
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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
Canis familiaris USH1G VGNC VGNC:48173
Mus musculus USH1G MGD MGI:2450757
Bos taurus USH1G VGNC VGNC:36705
Macaca mulatta USH1G VGNC VGNC:104672
Felis catus USH1G VGNC VGNC:66861
Rattus norvegicus USH1G RGD RGD:1304551