2. Gene
  3. GUCA1A - guanylate cyclase activator 1A Gene

GUCA1A - guanylate cyclase activator 1A Gene

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

中文名称：鸟苷酸环化酶激活因子 1A

种属: Homo sapiens

同用名: COD3; GCAP; GUCA; GCAP1; GUCA1; CORD14; C6orf131

基因 ID: 2978 | 基因类型: protein coding

关于 GUCA1A

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,173,364-42,180,056 (from NCBI)

This gene has 2 transcripts (splice variants), 168 orthologues, 14 paralogues and is associated with 7 phenotypes. Restricted expression toward testis (RPKM 15.8).

功能概要

该基因编码的酶在视网膜光感受器从光漂白中恢复中发挥作用。这种酶在低钙浓度下促进视网膜鸟苷酸环化酶-1 (GC1) 的活性，并在高钙浓度下抑制 GC1。该基因的突变可导致锥体营养不良 3 和编码杆营养不良 14。由 RefSeq 提供，2020 年 7 月]

This gene encodes an Enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This Enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]

GUCA1A 基因产物(1)

mRNA Protein Name
NM_001384910.1 NP_001371839.1 guanylyl cyclase-activating protein 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables guanylate cyclase regulator activity IMP
IMP: 通过突变表型推断
30622141 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cone photoreceptor outer segment IDA
IDA: 通过直接分析推断
9620085 GOA
located in photoreceptor inner segment IDA
IDA: 通过直接分析推断
9620085 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

GUCA1A 蛋白结构

EF-hand_8

EF-hand_8: EF-hand domain pair (31 - 80)

EF-hand_7

EF-hand_7: EF-hand domain pair (91 - 158)

  • 0
  • 100
  • 201 a.a.
蛋白主名 其他名称

guanylyl cyclase-activating protein 1

cone dystrophy 3

GUCA1A 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
GUCA1A P43080 DEFB118 Homo sapiens Q96PH6
Y2H Array
32296183
种属内
GUCA1A P43080 DEFB118 Homo sapiens Q96PH6
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 DEFB118 Homo sapiens Q96PH6
Validated Y2H
32296183
种属内
GUCA1A P43080 C1QTNF5 Homo sapiens Q9BXJ0
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 C1QTNF5 Homo sapiens Q9BXJ0
Y2H Array
32296183
种属内
GUCA1A P43080 C1QTNF5 Homo sapiens Q9BXJ0
Validated Y2H
32296183
种属内
GUCA1A P43080 GSC2 Homo sapiens O15499
Y2H Array
32296183
种属内
GUCA1A P43080 GSC2 Homo sapiens O15499
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 PRKAR1B Homo sapiens P31321
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 PRKAR1B Homo sapiens P31321
Y2H Array
32296183
种属内
GUCA1A P43080 AGR2 Homo sapiens O95994
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 AGR2 Homo sapiens O95994
Y2H Array
32296183
种属内
GUCA1A P43080 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
种属内
GUCA1A P43080 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
种属内
GUCA1A P43080 KATNAL1 Homo sapiens Q9BW62
Y2H Prey Pooling
32296183
种属内
GUCA1A P43080 KATNAL1 Homo sapiens Q9BW62
Validated Y2H
32296183
种属内
GUCA1A P43080 KATNAL1 Homo sapiens Q9BW62
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GUCA1A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76944 GCAP1 Protein, Human (sf9) P43080 (N-G&P, M1-G201) ≥95%
HY-P76945 GCAP1 Protein, Human (sf9, His-GST) P43080 (M1-G201) ≥95%

关联疾病

疾病名称 别名
Cone Dystrophy 3

Cone-Rod Dystrophy 14

COD3

Cone Dystrophy-3

Retinal Cone Dystrophy

CORD14

Dystrophy, Cone, Type 3
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
Isolated Macular Dystrophy
Choroidal Dystrophy, Central Areolar, 1

Choroidal Sclerosis

Choroidal Dystrophy

Choroidal Dystrophy, Central Areolar

Cacd

Central Areolar Choroidal Dystrophy

CACD1

Choroidal Dystrophy, Central Areolar 1

Choroidal Dystrophy Central Areolar

Central Areolar Choroidal Sclerosis

Choroidal Degenerations

Areolar Atrophy Of The Macula

Partial Central Choroid Dystrophy

Degenerative Choroidopathy

Chorioretinal Degeneration

Hereditary Chorioretinal Degeneration

Hereditary Degeneration Of Choroid

Hereditary Choroidal Dystrophies

Generalised Choroidal Dystrophy

Hereditary Choroidopathy
Progressive Cone Dystrophy

Cone Dystrophy

Cone Dystrophy Progressive
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
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3
Retinal Disease

Retinal Diseases

Retinal Disorder

Retinal Disorders
Cone-Rod Dystrophy 6

CORD6

Retinal Cone Dystrophy 2

Rcd2

Dystrophy, Cone-Rod, Type 6

Retinitis Pigmentosa 6

Progressive Cone Degeneration

Cone Dystrophy
Retinal Cone Dystrophy 1

RCD1

Retinal Cone Dystrophy-1

Retinal Cone Degeneration

Cone Dystrophy, Autosomal Dominant

Cone Dystrophy Autosomal Dominant

Doid:0081024
Retinal Degeneration

Degeneration Of Retina
Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12
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
Hereditary Choroidal Atrophy

Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy

Choroidal Dystrophy, Central Areolar
Prolonged Electroretinal Response Suppression

Bradyopsia

PERRS
Retinal Cone Dystrophy 4

RCD4

Doid:0081023

Dystrophy, Retinal Cone, Type 4
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
Occult Macular Dystrophy

OCMD

Omd

Dystrophy, Macular, Occult
Nephronophthisis 4

NPHP4

Juvenile Nephronophthisis 4

Nephronophthisis 4, Juvenile

Nephronophthisis, Type 4
Cone-Rod Dystrophy 3

CORD3

Dystrophy, Cone Rod, Type 3
Spherocytosis, Type 1

Hereditary Spherocytosis Type 1

SPH1

Hs1

Spherocytosis, Hereditary, 1

Sph

Hs

Hereditary Spherocytosis 1

Spherocytosis 1
Blue Cone Monochromacy

Blue Cone Monochromatism

BCM

Cbbm

Color Blindness Blue Mono Cone Monochromatic Type

Cone Dystrophy 5, X-Linked

Colorblindness, Blue-Mono-Cone-Monochromatic Type

Achromatopsia Incomplete X-Linked

Incomplete Achromatopsia X-Linked

X-Chromosome-Linked Achromatopsia

X-Linked Achromatopsia Incomplete

Atypical X-Linked Achromatopsia

Color Blindness, Blue Monocone Monochromatic Type

S Cone Monochromacy

S Cone Monochromatism

X-Linked Incomplete Achromatopsia

Colorblindness Blue-Mono-Cone-Monochromatic Type

Cone Dystrophy 5

COD5

Cone Dystrophy 5 X-Linked

Monochromacy, Blue Cone

Cone Monochromatism

Achromatopsia Incomplete, X-Linked
Bardet-Biedl Syndrome 4

BBS4

Bardet-Biedl Syndrome, Type 4
Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1
Scotoma

Enlarged Blind Spot

Scotoma Of Blind Spot Area

Blind Spot Area Scotoma

Enlarged Angioscotoma

Enlarged Paracaecal Scotoma

Generalized Visual Field Contraction Or Constriction

Sector Or Arcuate Visual Field Defects
Eye Degenerative Disease
Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3
Color Blindness

Color Vision Defect

Blindness Color

Colour Blindness

Colour Vision Deficiency

Color Vision Deficiency

Color Vision Defects

Defective Color Vision

Vision Defect, Color

Color-Vision Disease

Dyschromatopsia
Retinitis Pigmentosa 26

RP26

Retinitis Pigmentosa-26

Retinitis Pigmentosa, Type 26
Vitelliform Macular Dystrophy

Best Disease

Juvenile-Onset Vitelliform Macular Dystrophy

Macular Dystrophy, Vitelliform

Best Macular Dystrophy

Vitelliform Dystrophy
Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina
Stargardt Disease

Stargardt Disease 1

Stargardt Macular Dystrophy

Stargardt Disease-1

Juvenile Onset Macular Degeneration

Stargardt Macular Degeneration

Juvenile Macular Degeneration

Macular Dystrophy With Flecks, Type 1

Stgd

Fundus Flavimaculatus

Stargardt 1

Stargardts Disease
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
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

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-RS05915 GUCA1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GUCA1A VGNC VGNC:41561
Rattus norvegicus GUCA1A RGD RGD:1308712
Felis catus GUCA1A VGNC VGNC:67509
Macaca mulatta GUCA1A VGNC VGNC:73322
Mus musculus GUCA1A MGD MGI:102770
Bos taurus GUCA1A VGNC VGNC:29714
Others GUCA1A NCBI
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