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  2. ASIP - agouti signaling protein Gene

ASIP - agouti signaling protein Gene

中文名称:刺豚鼠信号蛋白

种属: Homo sapiens

同用名: ASP; AGSW; AGTI; AGTIL; SHEP9

基因 ID: 434 | 基因类型: protein coding

关于 ASIP

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,186,493-34,269,344 (from NCBI)

This gene has 2 transcripts (splice variants), 163 orthologues, 1 paralogue and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

在小鼠中,agouti 基因编码一种旁分泌信号分子,该分子导致毛囊黑素细胞合成褐黑素 (一种黄色素) ,而不是黑色或棕色素真黑素。小鼠基因组成型表达的多效性影响包括成年肥胖、肿瘤易感性增加和早产不育。该基因与小鼠基因高度相似,编码的分泌蛋白可能 (1) 影响毛发色素沉着的质量, (2) 作为 α-黑素细胞刺激素的药理学拮抗剂, (3) 在神经内分泌中发挥作用黑皮质素作用的各个方面,以及 (4) 在调节脂肪细胞中的脂质代谢方面具有功能性作用。[RefSeq 提供,2008 年 7 月]

In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]

ASIP 基因产物(2)

mRNA Protein Name
NM_001385218.1 NP_001372147.1 agouti-signaling protein precursor
NM_001672.3 NP_001663.2 agouti-signaling protein precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
36536132 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

ASIP 蛋白结构

Agouti

Agouti: Agouti protein (40 - 127)

  • 0
  • 100
  • 132 a.a.
蛋白主名 其他名称

agouti-signaling protein

agouti signaling protein, nonagouti homolog

关联疾病

疾病名称 别名
Skin/Hair/Eye Pigmentation, Variation In, 9

SHEP9

Skin/Hair/Eye Pigmentation 9, Brown/Nonbrown Eyes

Skin/Hair/Eye Pigmentation 9, Red/Nonred Hair

Skin/Hair/Eye Pigmentation 9, Freckling/Sunburn

Skin/Hair/Eye Pigmentation 9, Dark/Light Hair

Pigmentation, Skin/Hair/Eye, Variation In, Type 9

Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin

Albinism, Oculocutaneous, Type Ii

OCA2

Oculocutaneous Albinism Type 2

Oculocutaneous Albinism Type Ii

Albinoidism

Tyrosinase-Positive Oculocutaneous Albinism

Brown Oculocutaneous Albinism

Oculocutaneous Albinism, Tyrosinase-Positive

Albinism Ii

Albinism, Brown Oculocutaneous

Oculocutaneous Albinism, Type Ii, Modifier Of

Oculocutaneous Albinism, Type Ii

Albinism, Oculocutaneous, Type Ii, Modifier Of

Albinism 2

Albinism, Oculocutaneous, Type 2

Oculocutaneous Albinism Tyrosinase Positive

Oculocutaneous Albinism, Tyrosinase Positive

Albinism, Oculocutaneous, 2

Boca

Oca-2

Oculocutaneous Albinism Tyrosinase-Positive

Mongolian Spot

Mongolian Macula

Epithelial Recurrent Erosion Dystrophy

ERED

Corneal Erosions, Recurring Hereditary

Col17a1

Dystrophia Helsinglandica

Dystrophia Smolandiensis

Recurrent Hereditary Corneal Erosions

Rces

Recurrent Corneal Erosion Syndrome

Recurrent Erosion Of Cornea

Albinism, Oculocutaneous, Type Iii

Rufous Oculocutaneous Albinism

Oculocutaneous Albinism Type 3

OCA3

Roca

Xanthism

Oculocutaneous Albinism Type Iii

Albinism Iii

Oculocutaneous Albinism, Type Iii

Albinism 3

Albinism, Oculocutaneous, Type 3

Rufous Oca

Red Oculocutaneous Albinism

Xanthous Oculocutaneous Albinism

Albinism, Oculocutaneous, 3

Oca-Iii

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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
Felis catus ASIP VGNC VGNC:68345
Canis familiaris ASIP VGNC VGNC:38182
Mus musculus ASIP MGD MGI:87853
Bos taurus ASIP VGNC VGNC:26214
Rattus norvegicus ASIP RGD RGD:2003
Others ASIP NCBI