MC1R(melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor))

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

16q24.3
基因染色体位置图

基因简述

基因简述

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  此内含子基因编码促黑素细胞激素（MSH）受体蛋白。编码的蛋白质，七跨膜G蛋白偶联受体，控制黑素生成。有两种类型的黑色素存在：褐黑素红和黑色真黑素。导致在功能丧失的基因突变与提高褐黑素的生产，从而导致更轻的皮肤和头发的颜色相关联。黑色素是光防护，但是褐黑素可以通过在UV辐射产生自由基有助于紫外线引起的皮肤损伤。 MSH的结合其受体激活受体并刺激黑色素合成。该受体是在太阳灵敏度的主要决定因素，并且是黑色素瘤和非黑色素瘤皮肤癌的遗传危险因素。超过30变异等位基因已被鉴定出与皮肤和头发的颜色相关，提供的证据表明该基因是在确定的正常人颜料变异的一个重要组成部分。 [由RefSeq的，2008年7月提供]

OMIM数据库中对MC1R基因的介绍     Wikipedia数据库中对MC1R基因的介绍

基因序列

基因序列

MC1R基因的碱基序列：[NCBI]

基因突变

基因突变

MC1R基因的碱基突变：           显示全部snp
rs3212346       rs3212347       rs3212348       rs7199154       rs11641201       rs72813445       rs77439410       rs80309081       rs112853535       rs113769342       rs114725530       rs140585935       rs141199391       rs144459979       rs144990982       rs147227937       rs148232795       rs183340372       rs190787677       rs369393898       rs377017337       rs529216810       rs529583098       rs531612524       rs531723023       rs533136573       rs536066012       rs540011594       rs540777169       rs540852435       rs546468018       rs548086710       rs550158970       rs550543582       rs552620051       rs553225006       rs554372882      
rs557817333       rs564603281       rs568723978       rs568784985       rs573567356       rs885479       rs1110400       rs1805005       rs1805006       rs1805007       rs1805008       rs1805009       rs2228478       rs2228479       rs2229617       rs3209524       rs3212349       rs3212350       rs3212351       rs3212352       rs3212353       rs3212354       rs3212355       rs3212356       rs3212357       rs3212358       rs3212359       rs3212360       rs3212361       rs3212362       rs3212363       rs3212364       rs3212365       rs3212366       rs3212367       rs3212368       rs3212369       rs3212370       rs3212371       rs3212372       rs3212378       rs3212379       rs11310902       rs11547464       rs12102534       rs33932559       rs34020587       rs34057592       rs34090186       rs34158934       rs34209185       rs34291566       rs34474212       rs34490506       rs34540312       rs34564466       rs34612847       rs35040147       rs35784916       rs58664942       rs61996344       rs66626814       rs75827911       rs76302987       rs76337330       rs104894523       rs104894524       rs112573335       rs112759721       rs112946670       rs117952179       rs138058610       rs138661226       rs140530595       rs140568765       rs140650544       rs141177570       rs141426913       rs143395134       rs143513600       rs144507712       rs145631690       rs145781072       rs146544450       rs148003355       rs149922657       rs150450096       rs151266294       rs151318945       rs181269865       rs182215467       rs182927424       rs185562793       rs185930303       rs187180626       rs187556195       rs188462456       rs188982766       rs190803770       rs190819948       rs191862984       rs192276807       rs192378666       rs192485221       rs199920775       rs200000734       rs200050206       rs200051702       rs200215218       rs200616835       rs200759505       rs200965363       rs201028944       rs201171524       rs201192930       rs201326893       rs201429598       rs201489928       rs201533137       rs201632257       rs201787533       rs201827012       rs201975178       rs202197434       rs312262906       rs367985661       rs367998996       rs368247494       rs368281517       rs368501338       rs368507952       rs368714912       rs368745976       rs369016553       rs369402699       rs369542041       rs369674161       rs369807854       rs370040645       rs370073863       rs370094672       rs370306913       rs370441592       rs370472871       rs371022090       rs371055548       rs371156858       rs371214731       rs371458749       rs371583010       rs371618933       rs372041071       rs372152373       rs372212739       rs372353477       rs372590533       rs372719558       rs372852841       rs372929572       rs373044118       rs373109025       rs373224783       rs373231299       rs373241401       rs373344683       rs373467427       rs373597800       rs373703770       rs373872609       rs373957223       rs373990019       rs373998976       rs374235260       rs374355873       rs374423188       rs374760264       rs374827260       rs374878766       rs374959395       rs375127718       rs375200283       rs375562624       rs375672150       rs375789795       rs375813196       rs375867067       rs376179828       rs376425491       rs376508354       rs376559949       rs376670171       rs376679503       rs376692024       rs376709880       rs376780075       rs377050541       rs377122753       rs377248188       rs377411334       rs377499038       rs377580634       rs527493051       rs527673999       rs527697723       rs528162386       rs528202567       rs529288208       rs529561775       rs529986320       rs530102853       rs530442059       rs530536156       rs531012890       rs531979988       rs532002128       rs533350757       rs533350906       rs533638828       rs534315973       rs534955912       rs536045780       rs536447537       rs536644599       rs537382942       rs538459120       rs538777064       rs538791885       rs538950757       rs540362816       rs540424761       rs541142974       rs541340274       rs541368056       rs541831292       rs542835801       rs543797088       rs543859214       rs543859260       rs543967019       rs545164896       rs545888975       rs546300801       rs546356361       rs546542914       rs546618600       rs547076646       rs548480616       rs550480383       rs550551838       rs550580681       rs550939896       rs551043523       rs551768821       rs551908029       rs552512218       rs552688125       rs552996933       rs553184868       rs553516665       rs554831935       rs555058897       rs555179612       rs555253543       rs555759571       rs557090489       rs557576978       rs558280878       rs558291011       rs559789864       rs559928561       rs560412301       rs561174278       rs561571645       rs562152834       rs562259741       rs562569261       rs563576924       rs563638700       rs564161331       rs564507704       rs564999211       rs566702302       rs566784469       rs566966188       rs567132285       rs569123333       rs569349623       rs569363691       rs571467879       rs571611042       rs572754025       rs573416648       rs573848209       rs574138336       rs574552620       rs575607312       rs577746924       rs577828413       rs577907985       rs587783376       rs745939194       rs745994833       rs746134737       rs746326142       rs746774948       rs746795719       rs746831340       rs747074089       rs747608998       rs747847234       rs747948460       rs747968193       rs748138541       rs748173401       rs748521098       rs748542102       rs748780226       rs748972076       rs749154025       rs749221540       rs749385653       rs749525002       rs749933929       rs749952512       rs750319061       rs750496563       rs750618617       rs750738503       rs750924468       rs750978167       rs751102007       rs751740657       rs751851408       rs752024458       rs752324157       rs752526626       rs752618291       rs752927306       rs752932359       rs753159082       rs753337030       rs753749977       rs753883273       rs754265036       rs754405679       rs754442823       rs754647280       rs754971328       rs755031236       rs755222490       rs755331408       rs755569921       rs755575050       rs755918287       rs756060136       rs756191158       rs756422682       rs756455255       rs756579024       rs756696134       rs756705568       rs757162834       rs757194495       rs757787545       rs757840076       rs758135673       rs758416983       rs758623879       rs759142499       rs759569604       rs760097588       rs760209791       rs760458744       rs760466103       rs760716521       rs760953265       rs761041641       rs761210287       rs761538502       rs761804253       rs761916197       rs761973172       rs762056280       rs762063106       rs762096175       rs762183931       rs762468628       rs762579568       rs762670523       rs762846553       rs762901370       rs763258863       rs763408394       rs763454408       rs763647934       rs763966451       rs764002798       rs764430047       rs764580616       rs764702133       rs764964218       rs765016133       rs765120108       rs765571249       rs765743913       rs765813858       rs765848904       rs766080391       rs766152881       rs766501365       rs766530750       rs766864971       rs766933388       rs767276470       rs767278343       rs767294514       rs767905960       rs767942408       rs768032453       rs768172450       rs768463479       rs768640835       rs768902395       rs769050446       rs769200898       rs769955455       rs770551931       rs771176079       rs771596986       rs771648556       rs771897011       rs772264604       rs772286882       rs772323341       rs772601310       rs772969877       rs773094322       rs773260532       rs773313328       rs773395822       rs773566844       rs773631824       rs774110096       rs774381644       rs774456071       rs774680166       rs775239171       rs775781914       rs775806791       rs775899027       rs775933691       rs776046156       rs776413951       rs776654211       rs776687782       rs776829551       rs776915883       rs777024553       rs777147258       rs777791887       rs778370171       rs778725176       rs778831502       rs778843599       rs778914708       rs778930648       rs779504604       rs779593625       rs779680061       rs779866297       rs780265657       rs780284801       rs780650451       rs780773419       rs780813746       rs780875127       rs781182922       rs781311501       rs781382183       rs781549818      

基因表达

基因表达

MC1R基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
CATCTCACACTCATCGTCCT
59
AGTTCTTGAAGATGCAGCC
58
TCATCTACGCCTTCCACAG
59
AGACTTCACATCCCAGCTG
59
CATCTCACACTCATCGTCC
58
AGTTCTTGAAGATGCAGCC
58
TCATCTACGCCTTCCACAG
59
GAGACTTCACATCCCAGCT
59
GGCAGGAAACATGTTCCAG
59
GGTGGACTCAAGGCATAGG
60
TCATCTACGCCTTCCACAG
59
ACTTCACATCCCAGCTGAC
60
ATCTCACACTCATCGTCCT
58
AAGTTCTTGAAGATGCAGCC
59
CAGGAAACATGTTCCAGCC
59
GGTGGACTCAAGGCATAGG
60
GCAGGAAACATGTTCCAGC
60
GGTGGACTCAAGGCATAGG
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

MC1R基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

MC1R基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004980
G3V4F0(UniProtKB)
IEA
GO:0005886
G3V4F0(UniProtKB)
IEA
GO:0007186
G3V4F0(UniProtKB)
IEA
GO:0016021
G3V4F0(UniProtKB)
IEA
GO:0004977
Q01726(UniProtKB)
TAS
GO:0004980
Q01726(UniProtKB)
IPI
GO:0005515
Q01726(UniProtKB)
IPI
GO:0005515
Q01726(UniProtKB)
IPI
GO:0005515
Q01726(UniProtKB)
IPI
GO:0005622
Q01726(UniProtKB)
IEA
GO:0005886
Q01726(UniProtKB)
IDA
GO:0005886
Q01726(UniProtKB)
TAS
GO:0005886
Q01726(UniProtKB)
TAS
GO:0005886
Q01726(UniProtKB)
TAS
GO:0005886
Q01726(UniProtKB)
TAS
GO:0005887
Q01726(UniProtKB)
TAS
GO:0007187
Q01726(UniProtKB)
TAS
GO:0007275
Q01726(UniProtKB)
TAS
GO:0008528
Q01726(UniProtKB)
TAS
GO:0009650
Q01726(UniProtKB)
TAS
GO:0010739
Q01726(UniProtKB)
ISS
GO:0019233
Q01726(UniProtKB)
IEA
GO:0030819
Q01726(UniProtKB)
IDA
GO:0030819
Q01726(UniProtKB)
IDA
GO:0031625
Q01726(UniProtKB)
IPI
GO:0032720
Q01726(UniProtKB)
IMP
GO:0035556
Q01726(UniProtKB)
ISS
GO:0042438
Q01726(UniProtKB)
IEA
GO:0043473
Q01726(UniProtKB)
TAS
GO:0045944
Q01726(UniProtKB)
ISS
GO:0051897
Q01726(UniProtKB)
ISS
GO:0070914
Q01726(UniProtKB)
IDA
GO:0090037
Q01726(UniProtKB)
ISS

基因相互作用关系

基因相互作用关系

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因相关microRNA

基因相关microRNA

可能调控MC1R基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 0.36 1 1 CLINVAR_CTD_human_UNIPROT
melanoma 0.284044374 149 14 BeFree_CTD_human_GAD_LHGDN
Basal cell carcinoma 0.25728386 7 1 CTD_human_GAD_GWASCAT_LHGDN
Oculocutaneous albinism type 2 0.243181358 3 0 BeFree_CTD_human_GAD_ORPHANET
Skin carcinoma 0.126091273 8 1 BeFree_GAD_GWASCAT
Vitiligo 0.12554839 4 3 BeFree_CTD_human_GAD
Freckles 0.124734064 2 1 GAD_GWASCAT
Sunburn 0.122367032 2 1 GAD_GWASCAT
Congenital melanocytic nevus 0.120271442 1 0 BeFree_ORPHANET
Hyperalgesia 0.12 1 0 CTD_human
Protein-Losing Enteropathies 0.12 0 0 CTD_human
MELANOMA, CUTANEOUS MALIGNANT, 1 0.12 0 0 CTD_human
GIANT PIGMENTED HAIRY NEVUS 0.12 0 0 ORPHANET
UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO 0.12 0 2 CLINVAR
INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder) 0.12 0 2 CLINVAR
Acute-Phase Reaction 0.08 1 0 RGD
Skin Neoplasms 0.069135442 27 0 GAD_LHGDN
Malignant neoplasm of skin 0.013767591 43 6 BeFree_GAD
Multiple Sclerosis 0.01246392 4 0 BeFree_GAD_LHGDN
Cutaneous Melanoma 0.010510288 30 0 BeFree_GAD
Albinism, Oculocutaneous 0.008358616 4 0 BeFree_GAD_LHGDN
Nevus 0.006634157 9 0 BeFree_GAD
Squamous cell carcinoma 0.006091273 6 1 BeFree_GAD
Malignant neoplasm of prostate 0.005276948 3 0 BeFree_GAD
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 0.004614512 17 10 BeFree
Experimental Organism Basal Cell Carcinoma 0.004614512 17 4 BeFree
Erythema 0.003181358 4 6 BeFree_GAD
Obesity 0.002909916 3 0 BeFree_GAD
Parkinson Disease 0.002909916 3 2 BeFree_GAD
Psoriasis 0.002909916 2 0 BeFree_GAD
Melanoma, Amelanotic 0.002909916 3 0 BeFree_GAD
Lymphoma, Follicular 0.002638474 1 0 BeFree_GAD
Diffuse Large B-Cell Lymphoma 0.002638474 1 0 BeFree_GAD
Vulvar Vestibulitis 0.002638474 1 0 BeFree_GAD
Carcinoma, Papillary 0.002367032 1 0 GAD
Lymphoma, Non-Hodgkin 0.002367032 1 0 GAD
Neoplasms, Multiple Primary 0.002367032 1 0 GAD
Neoplasms, Radiation-Induced 0.002367032 1 0 GAD
Photosensitivity Disorders 0.002367032 1 0 GAD
Thyroid Neoplasm 0.002367032 1 0 GAD
Epstein-Barr Virus Infections 0.002367032 1 0 GAD
Follicular thyroid carcinoma 0.002367032 1 0 GAD
Solar Erythema 0.002367032 1 0 GAD
Structure showing abnormal deposition of pigment (morphologic abnormality) 0.002367032 1 0 GAD
Melanocytic nevus 0.002171535 8 0 BeFree
Benign melanocytic nevus 0.001628651 6 0 BeFree
Absence of pain sensation 0.001357209 5 0 BeFree
Melanocytic nevus of skin 0.001357209 5 0 BeFree
Neoplasm Metastasis 0.001085767 4 0 BeFree
Carcinogenesis 0.001085767 4 0 BeFree
Hereditary Melanoma 0.001085767 4 0 BeFree
Lentigo 0.000814326 3 2 BeFree
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 0.000814326 3 3 BeFree
Albinism 0.000542884 2 0 BeFree
Pallor 0.000542884 2 2 BeFree
Piebaldism 0.000542884 2 0 BeFree
Angelman Syndrome 0.000542884 2 0 BeFree
Prostate carcinoma 0.000542884 2 0 BeFree
Anxiety Disorders 0.000271442 1 0 BeFree
Malignant neoplasm of breast 0.000271442 1 0 BeFree
Malignant neoplasm of thyroid 0.000271442 1 0 BeFree
Hodgkin Disease 0.000271442 1 0 BeFree
Actinic keratosis 0.000271442 1 0 BeFree
Mesothelioma 0.000271442 1 0 BeFree
Neck Neoplasms 0.000271442 1 0 BeFree
Pain 0.000271442 1 0 BeFree
Pheochromocytoma 0.000271442 1 5 BeFree
Dermatologic disorders 0.000271442 1 0 BeFree
Skin lesion 0.000271442 1 0 BeFree
Secondary malignant neoplasm of bone 0.000271442 1 0 BeFree
Cicatrix, Hypertrophic 0.000271442 1 0 BeFree
Hypopigmentation disorder 0.000271442 1 0 BeFree
Uveal melanoma 0.000271442 1 0 BeFree
Superficial spreading malignant melanoma of skin 0.000271442 1 0 BeFree
Thyroid carcinoma 0.000271442 1 0 BeFree
Squamous cell carcinoma of skin 0.000271442 1 0 BeFree
Breast Carcinoma 0.000271442 1 0 BeFree
skin damage 0.000271442 1 0 BeFree
Spot pigmented 0.000271442 1 2 BeFree
Skin Pigmentation Disorder 0.000271442 1 0 BeFree
Hypotrichosis simplex 0.000271442 1 1 BeFree
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 0.000271442 1 0 BeFree
Lentigo maligna melanoma 0.000271442 1 1 BeFree

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