USH1C - USH1 protein network component harmonin Gene

中文名称：USH1 蛋白网络成分协调蛋白

种属: Homo sapiens

同用名: PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38

基因 ID: 10083 | 基因类型: protein coding

关于 USH1C

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:17,493,900-17,544,416 (from NCBI)

This gene has 11 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 6 phenotypes. Biased expression in small intestine (RPKM 13.7), duodenum (RPKM 13.0) and 6 other tissues.

功能概要

该基因编码一种支架蛋白，该蛋白在 Usher 蛋白复合物的组装中发挥作用。该蛋白质包含 PDZ 结构域、具有二分核定位信号的卷曲螺旋区域和 PEST 降解序列。该基因的缺陷是导致 1C 型 Usher 综合征和 18 型常染色体隐性遗传性非综合征感音神经性耳聋的原因。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供，2009 年 3 月]

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1C 基因产物(3)

mRNA	Protein	Name
NM_001297764.2	NP_001284693.1	harmonin isoform c
NM_005709.4	NP_005700.2	harmonin isoform a
NM_153676.4	NP_710142.1	harmonin isoform b3

基因本体论

分子功能
生物过程
细胞组分

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	11311560	GOA
enables spectrin binding	IDA IDA: 通过直接分析推断	23704327	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in G2/M transition of mitotic cell cycle	IMP IMP: 通过突变表型推断	15219944	GOA
involved in brush border assembly	IDA IDA: 通过直接分析推断	32209652	GOA
involved in brush border assembly	IMP IMP: 通过突变表型推断	24725409	GOA
involved in equilibrioception	IMP IMP: 通过突变表型推断	10973247	GOA
involved in photoreceptor cell maintenance	IMP IMP: 通过突变表型推断	11398101	GOA
involved in protein localization to microvillus	IMP IMP: 通过突变表型推断	24725409	GOA
involved in protein-containing complex assembly	IDA IDA: 通过直接分析推断	26812018	GOA
involved in sensory perception of light stimulus	IMP IMP: 通过突变表型推断	11398101	GOA
involved in sensory perception of sound	IMP IMP: 通过突变表型推断	11398101	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical part of cell	IDA IDA: 通过直接分析推断	10209257	GOA
located in brush border	IDA IDA: 通过直接分析推断	21330445	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	10209257	GOA
located in microvillus	IDA IDA: 通过直接分析推断	24725409	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

USH1C 蛋白结构

PDZ

0
100
200
300
400
500
552 a.a.

蛋白主名

其他名称

harmonin

Usher syndrome 1C (autosomal recessive, severe)

重组 USH1C 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71659	USH1C Protein, Human (His-SUMO)	Q9Y6N9-4(M1-F533)	≥95%
HY-P76966	USH1C Protein, Human (His)	Q9Y6N9 (M1-F552)	≥95%

关联疾病

疾病名称

别名

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 Recessive 18a

Deafness, Autosomal Recessive 18	DFNB18A
Dfnb18	Autosomal Recessive Nonsyndromic Deafness 18a
Autosomal Recessive Deafness 18a	Deafness, Autosomal Recessive, 18a
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18
Deafness, Autosomal Recessive, Type 18a

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

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

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Rare Genetic Deafness

Rare Genetic Hearing Loss

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

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

Autoimmune Enteropathy

Deafness, Autosomal Recessive

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Retinal Degeneration

Degeneration Of Retina

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

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 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

Deafness, Autosomal Dominant 59

DFNA59	Autosomal Dominant Nonsyndromic Deafness 59
Autosomal Dominant Deafness 59

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 Ig

Usher Syndrome Type 1g	USH1G
Usher Syndrome, Type 1g	Usher Syndrome Type Ig
Usher Syndrome 1g	Usher'S Syndrome Type 1g

Deafness, Autosomal Recessive 57

DFNB57	Autosomal Recessive Nonsyndromic Deafness 57
Autosomal Recessive Deafness 57	Deafness, Autosomal Recessive, 57
Deafness, Autosomal Recessive, Type 57

Usher Syndrome, Type Iid

Usher Syndrome Type 2d	USH2D
Usher Syndrome, Type 2d	Usher Syndrome Type Iid
Usher Syndrome 2d	Usher Syndrome, Type Ii

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

Deafness, Autosomal Recessive 7

DFNB7	Dfnb11
Deafness, Autosomal Recessive 11	Autosomal Recessive Nonsyndromic Deafness 7
Autosomal Recessive Deafness 7	Deafness, Autosomal Recessive, 7
Deafness Neurosensory Autosomal Recessive 11	Deafness Neurosensory Autosomal Recessive 7
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7
Deafness, Autosomal Recessive, Type 7

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct	DFNB4
Neurosensory Nonsyndromic Recessive Deafness 4	Enlarged Vestibular Aqueduct Syndrome
Nsrd4	Autosomal Recessive Nonsyndromic Deafness 4
Dilated Vestibular Aqueduct	Dva
Enlarged Vestibular Aqueduct, Digenic	Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
Large Vestibular Aqueduct Syndrome	Deafness, Autosomal Recessive, 4
Deafness Neurosensory Autosomal Recessive 4	Eva
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

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

Deafness, Autosomal Recessive 15

DFNB15	Dfnb72
Dfnb95	Deafness, Autosomal Recessive 72
Autosomal Recessive Nonsyndromic Deafness 15	Deafness, Autosomal Recessive 95
Autosomal Recessive Deafness 15	Autosomal Recessive Deafness 72
Autosomal Recessive Deafness 95	Deafness, Autosomal Recessive, 15
Deafness Autosomal Recessive 72	Deafness Autosomal Recessive 95
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15
Deafness, Autosomal Recessive, Type 15

Y-Linked Deafness

Dfny

Deafness, Autosomal Recessive 17

DFNB17	Autosomal Recessive Nonsyndromic Deafness 17
Autosomal Recessive Deafness 17

Autosomal Recessive Nonsyndromic Deafness 36

Autosomal Recessive Deafness 36	Dfnb36
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Deafness, Autosomal Recessive 36

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 Dominant 9

DFNA9	Autosomal Dominant Nonsyndromic Deafness 9
Autosomal Dominant Deafness 9	Deafness, Autosomal Dominant, 9
Deafness, Autosomal Dominant, Type 9

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

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

Deafness, Autosomal Recessive 6

DFNB6	Neurosensory Nonsyndromic Recessive Deafness 6
Nsrd6	Autosomal Recessive Nonsyndromic Deafness 6
Autosomal Recessive Deafness 6	Deafness, Autosomal Recessive, 6
Deafness Neurosensory Autosomal Recessive 6	Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6	Deafness, Autosomal Recessive, Type 6

Deafness, Autosomal Dominant 36

DFNA36	Autosomal Dominant Nonsyndromic Deafness 36
Autosomal Dominant Deafness 36	Deafness, Autosomal Dominant, 36
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 36	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 36
Deafness, Autosomal Dominant, Type 36

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Deafness, Autosomal Recessive 25

DFNB25	Autosomal Recessive Nonsyndromic Deafness 25
Autosomal Recessive Deafness 25	Deafness, Autosomal Recessive, 25
Deafness, Autosomal Recessive, Type 25

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Deafness, Autosomal Recessive 16

DFNB16	Autosomal Recessive Nonsyndromic Deafness 16
Autosomal Recessive Deafness 16	Deafness, Autosomal Recessive, 16
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 16	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 16
Deafness, Autosomal Recessive, Type 16

Deafness, Autosomal Dominant 65

DFNA65	Autosomal Dominant Nonsyndromic Deafness 65
Autosomal Dominant Deafness 65	Deafness, Autosomal Dominant, 65
Deafness, Autosomal Dominant, Type 65

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 Recessive 86

DFNB86	Autosomal Recessive Nonsyndromic Deafness 86
Autosomal Recessive Deafness 86	Deafness, Autosomal Recessive, 86
Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Hyperinsulinism

Hyperinsulinemia

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome, Type Iic

Usher Syndrome Type 2c	USH2C
Usher Syndrome, Type 2c	Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic
Usher Syndrome Type Iic	Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic
Usher Syndrome 2c	Usher'S Syndrome Type 2c
Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Pendred Syndrome

Goiter-Deafness Syndrome	Deafness With Goiter
PDS	Thyroid Dyshormonogenesis 2b
Tdh2b	Autosomal Recessive Sensorineural Hearing Impairment And Goiter
Pendred'S Syndrome	Thyroid Hormonogenesis, Genetic Defect In, 2b
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b	Congenital Hypothyroidism Due To Dyshormonogenesis 2b
Genetic Defect In Thyroid Hormonogenesis 2b	Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
Goiter-Hearing Loss Syndrome	Goitre-Deafness Syndrome
Goitre Deafness

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Eye Degenerative Disease

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Stickler Syndrome

Arthroophthalmopathy	Hereditary Arthro-Ophthalmo-Dystrophy
Hereditary Arthro-Ophthalmopathy	Stickler Dysplasia
Hereditary Progressive Arthroophthalmopathy	Stickler Syndrome, Type 1

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

直系同源

种属	基因名	来源	基因 ID
Felis catus	USH1C	VGNC	VGNC:66860
Bos taurus	USH1C	VGNC	VGNC:36704
Canis familiaris	USH1C	VGNC	VGNC:48172
Rattus norvegicus	USH1C	RGD	RGD:1303329
Macaca mulatta	USH1C	VGNC	VGNC:78732
Mus musculus	USH1C	MGD	MGI:1919338
Others	USH1C	NCBI

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USH1C - USH1 protein network component harmonin Gene

关于 USH1C

功能概要

USH1C 基因产物(3)

USH1C 蛋白结构

重组 USH1C 蛋白

关联疾病

直系同源

热门区域

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USH1C - USH1 protein network component harmonin Gene

关于 USH1C

功能概要

USH1C 基因产物(3)

USH1C 蛋白结构

重组 USH1C 蛋白

关联疾病

相关产品

直系同源

热门区域

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