PMEL(premelanosome protein)

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

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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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12q13-q14
基因染色体位置图

This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

[中文简述(自动翻译):]  该基因编码一个特定黑素细胞的I型跨膜糖蛋白。所编码的蛋白质富集在黑素,这是在黑素细胞的黑色素产生细胞器,并起着premelanosomes的结构组织的重要作用。这种蛋白质是参与生成,从第一阶段定义过渡到第二阶段的黑素体内部的基质纤维。这种蛋白质经受prosttranslational加工和修饰的复杂模式即该蛋白质的正常运作的关键。由蛋白水解胞外域脱落释放该蛋白质的分泌形式可以用作黑素瘤特异性血清标记。选择性剪接结果在多个抄本变形。 [由RefSeq的,2011年1月提供]

PMEL基因的碱基序列:[NCBI]
PMEL基因的碱基突变:           显示全部snp
rs2069389       rs2069390       rs2069391       rs2069392       rs2069393       rs2069394       rs2069395       rs2069396       rs2069397       rs2069398       rs2069399       rs2069400       rs2069401       rs2069402       rs3087335       rs3213121       rs11554376       rs12309895       rs71074878       rs75479586       rs77387841       rs113234189       rs113293401       rs113593981       rs113713715       rs113816950       rs114123326       rs115880418       rs138481007       rs139342756       rs141055162       rs147314596       rs180961876       rs181643956       rs184688715       rs184896391       rs186060974      
rs189369995       rs189710759       rs199844702       rs200294932       rs200863916       rs369071236       rs369499858       rs369617221       rs370098660       rs371108331       rs372307182       rs372922692       rs373277065       rs376551262       rs376599347       rs376663678       rs377117205       rs377244322       rs528784064       rs529751486       rs531582813       rs532174172       rs532239439       rs535131140       rs535264458       rs535858072       rs535976635       rs536974723       rs537290389       rs537368431       rs539412785       rs539865729       rs541117899       rs541281338       rs541494295       rs542241776       rs542978153       rs545834982       rs545848638       rs547503982       rs547774829       rs548501889       rs549991558       rs551123688       rs551496526       rs552896935       rs553174592       rs553194162       rs553478408       rs553739735       rs554807706       rs557458862       rs558675677       rs558861719       rs559164005       rs559440967       rs559716561       rs563020578       rs563946334       rs564891914       rs565494787       rs565685374       rs568622337       rs568687267       rs569270551       rs569308993       rs571053619       rs571057298       rs573029298       rs573490074       rs574257000       rs574317807       rs575004758       rs575487425       rs575683629       rs576998320       rs577056115       rs577260800       rs577337340       rs745467761       rs746270101       rs746422426       rs746653925       rs746850184       rs746864135       rs747502900       rs747703071       rs748062706       rs749001657       rs749419315       rs749459750       rs750222849       rs750593159       rs751524550       rs752789935       rs752802887       rs754042510       rs754843910       rs754942827       rs755065253       rs755767646       rs755825258       rs756373137       rs757007587       rs757201758       rs757593729       rs757819756       rs758327721       rs758656923       rs759100103       rs759688421       rs759802105       rs761072055       rs761831055       rs762232821       rs762376662       rs762817824       rs762897013       rs763241768       rs763450515       rs764103884       rs764190346       rs764629717       rs764675997       rs765419490       rs765820957       rs766197388       rs766756041       rs767614315       rs767806466       rs767908968       rs769282649       rs769391479       rs769987474       rs770219786       rs770551803       rs771630413       rs771830427       rs772494885       rs772711276       rs772893571       rs772956348       rs773811074       rs774390450       rs774473582       rs774877336       rs774881205       rs775538312       rs776092862       rs777107767       rs777189859       rs777622443       rs778560038       rs779522936       rs780275011       rs780775267       rs780953386       rs780969766       rs1052206       rs3208548       rs76526573       rs77145008       rs80224928       rs144339099       rs146387352       rs146602879       rs149844549       rs182137039       rs189140584       rs189778359       rs191793703       rs199767962       rs200177638       rs200342263       rs200616852       rs201309431       rs201373220       rs202143328       rs367623594       rs368158227       rs368375866       rs370503833       rs371704918       rs372108724       rs373425172       rs374360529       rs375220932       rs376326190       rs377281821       rs530360077       rs534284055       rs535724327       rs540676102       rs546188703       rs557523799       rs558256337       rs568703181       rs573289903       rs575710894       rs746019205       rs748241251       rs748281315       rs748318989       rs748556254       rs751064835       rs751686905       rs752340165       rs753104093       rs753304664       rs754252617       rs755351050       rs756601317       rs758090296       rs758869916       rs759900864       rs761479444       rs762536611       rs765628035       rs766429930       rs766708140       rs766901033       rs768267422       rs768396173       rs770420411       rs771182966       rs771766884       rs772233226       rs772424828       rs772581066       rs773455138       rs774165563       rs775136742       rs776470446       rs778118794       rs778202706       rs779078135       rs779360101       rs780605561       rs781076871       rs781352850       rs1052165       rs1052166       rs1804189       rs2071024       rs2172518       rs3741502       rs3741503       rs10876863       rs11171705       rs11552309       rs11552310       rs11830960       rs11832131       rs12307952       rs12319998       rs17118152       rs17118154       rs57990974       rs60211191       rs61752491       rs61956435       rs61956436       rs61956437       rs71074877       rs73123213       rs73123217       rs74463178       rs74884839       rs75101332       rs75512881       rs76045902       rs76460762       rs76705407       rs78248261       rs79058024       rs79091050       rs80089977       rs111285511       rs111285702       rs111291952       rs111386852       rs111553811       rs111776275       rs112449360       rs112733012       rs112737451       rs112766582       rs112943693       rs112946849       rs112995459       rs113129768       rs113224271       rs113227369       rs113234596       rs113240002       rs113653587       rs113995172       rs114407203       rs115106532       rs115504128       rs138024137       rs138026870       rs138090110       rs138137321       rs138189925       rs138646330       rs138648441       rs139417066       rs139417586       rs139479001       rs139552150       rs140112816       rs140466024       rs140775443       rs140968553       rs141153993       rs141215743       rs141332969       rs141458689       rs142319154       rs142410496       rs142437590       rs142719170       rs142781578       rs142962639       rs143030232       rs143133115       rs143209778       rs143650705       rs144270384       rs144709781       rs144749903       rs144783078       rs144985891       rs145035997       rs145525200       rs145554367       rs145575853       rs145695872       rs145765881       rs145874882       rs145935891       rs145984277       rs146080065       rs146098515       rs146949443       rs146965707       rs147576105       rs147683799       rs147750511       rs147766748       rs147875589       rs148206928       rs148243788       rs148258956       rs148568175       rs149390347       rs149851365       rs150124860       rs150156642       rs150805617       rs150858017       rs150896741       rs151212951       rs181242042       rs181377009       rs182525932       rs182694622       rs182768700       rs182892918       rs182902873       rs182997287       rs183850231       rs183901584       rs184207622       rs184353962       rs185754880       rs185977602       rs186271383       rs186334972       rs186779335       rs187093329       rs187575417       rs187993578       rs188339741       rs188708664       rs189059450       rs189087799       rs189323330       rs190124348       rs190437268       rs190656748       rs190785535       rs191347048       rs191500118       rs191597062       rs191871388       rs192239742       rs192373678       rs192380908       rs192469585       rs192967256       rs193278756       rs199615476       rs199868276       rs199915008       rs199977392       rs200084137       rs200182534       rs200269247       rs200286588       rs200463173       rs200624989       rs200641128       rs200660768       rs200721518       rs200734413       rs200742891       rs201143678       rs201166316       rs201323323       rs201446120       rs201624440       rs201685117       rs201743690       rs201756992       rs201808338       rs202158966       rs367631350       rs367662871       rs367764106       rs367945202       rs368129213       rs368202748       rs368309157       rs368408126       rs368495774       rs368542675       rs368656983       rs368771884       rs369832858       rs370501364       rs370539038       rs370619581       rs370824426       rs370846894       rs370988492       rs371165560       rs371736976       rs371792496       rs372078340       rs372115821       rs372815144       rs372874266       rs372984564       rs373005120       rs373256791       rs373304176       rs373387516       rs373648794       rs373856216       rs373939621       rs374021188       rs374422378       rs374490810       rs374498401       rs374507674       rs374561889       rs374626041       rs374810227       rs375170547       rs375433823       rs375450954       rs375574754       rs376500555       rs376603313       rs377175522       rs377226079       rs377344354       rs377391935       rs377392453       rs398038402       rs398044355       rs527532242       rs527584902       rs527912731       rs528039172       rs528167810       rs528855850       rs528856601       rs528918047       rs529540548       rs529572410       rs529806802       rs529824001       rs530469642       rs530526463       rs530999417       rs531519002       rs531642814       rs531724012       rs532341210       rs532379088       rs532399129       rs532430895       rs532929033       rs533532382       rs533675293       rs533675459       rs534226258       rs534236316       rs534569644       rs534925309       rs535327214       rs535915558       rs536230725       rs536723391       rs537352418       rs537898353       rs538027966       rs538294645       rs538606557       rs538616004       rs539289121       rs539354382       rs539846922       rs539943118       rs540038273       rs540067645       rs540927839       rs541007368       rs541203828       rs541341128       rs541415044       rs541655458       rs542066373       rs542129316       rs542201072       rs542912439       rs542975624       rs543201289       rs543262573       rs543841924       rs544996711       rs545393715       rs546200598       rs546947392       rs547084728       rs547269685       rs547307900       rs547931059       rs548298450       rs548975972       rs549043141       rs549051528       rs549168113       rs549306536       rs549429529       rs549757114       rs549929153       rs549989578       rs550051261       rs551189618       rs551423256       rs551745753       rs551931540       rs551992817       rs552478985       rs553177163       rs553238170       rs553629035       rs555484401       rs555807903       rs556669932       rs556737665       rs556802774       rs557041715       rs557458616       rs557542824       rs557606032       rs557665405       rs557678242       rs558256254       rs558789420       rs559445820       rs559503894       rs559670187       rs560749766       rs560810723       rs561066601       rs561533384       rs562029456       rs563020948       rs563083673       rs563161022       rs563243897       rs563399604       rs563701876       rs565026263       rs565085011       rs565229285       rs565556951       rs565679793       rs565749842       rs566739781       rs567482220       rs567629874       rs568653311       rs568857082       rs569647548       rs570807194       rs570987016       rs571267307       rs571293102       rs571331346       rs571424322       rs572579148       rs572658514       rs572843507       rs573353729       rs573652634       rs573769514       rs573904005       rs574108523       rs574635197       rs575065193       rs575428476       rs575444135       rs575593553       rs575744911       rs576670723       rs576899948       rs576994586       rs577201288       rs577680985       rs745437192       rs745467596       rs745626852       rs745730259       rs746000820       rs746100457       rs746305899       rs746321879       rs746474705       rs746495195       rs746581413       rs746632838       rs746898807       rs747146759       rs747172432       rs747177005       rs747283322       rs747350254       rs747647714       rs747764929       rs747862604       rs747992422       rs748038420       rs748220539       rs748548753       rs748625850       rs748713829       rs748810557       rs748889809       rs748911832       rs748923089       rs749063725       rs749150393       rs749187531       rs749222725       rs749419239       rs749542021       rs749547253       rs749775860       rs749832219       rs749875577       rs750000513       rs750015504       rs750040742       rs750057934       rs750260269       rs750292639       rs750309085       rs750439228       rs750561778       rs750730209       rs750890310       rs751092796       rs751189096       rs751323327       rs751339285       rs751382242       rs751403300       rs751458692       rs751560405       rs751628041       rs751650737       rs751975868       rs752022644       rs752032233       rs752198373       rs752214762       rs752335466       rs752489505       rs752504108       rs752601136       rs752631988       rs752922513       rs752927390       rs753132375       rs753220360       rs753278669       rs753318740       rs753378647       rs753739379       rs753907122       rs753925108       rs753931391       rs754044406       rs754125606       rs754290611       rs754310038       rs754623582       rs754677456       rs754871832       rs754893665       rs754916414       rs755088687       rs755142376       rs755243276       rs755261564       rs755445798       rs755533343       rs755792129       rs755863433       rs756057784       rs756059768       rs756259442       rs756326844       rs756386206       rs756451110       rs756650242       rs756674111       rs756955576       rs756974126       rs757156461       rs757169561       rs757183256       rs757407249       rs757745778       rs758062146       rs758120262       rs758175649       rs758241303       rs758259927       rs758298457       rs758361020       rs758401960       rs758459033       rs758695951       rs758718225       rs758906066       rs758922443       rs758924313       rs759052075       rs759220632       rs759772799       rs760155930       rs760179764       rs760182939       rs760322492       rs760598484       rs760680590       rs760788630       rs760896425       rs761008475       rs761075601       rs761089885       rs761228420       rs761422844       rs761428902       rs761474689       rs761539404       rs761831185       rs761875365       rs762027096       rs762082909       rs762126471       rs762250873       rs762278688       rs762573076       rs762625724       rs762888390       rs762891137       rs762978208       rs763008061       rs763225602       rs763450698       rs763533826       rs763577404       rs763617562       rs763824630       rs763882058       rs763914807       rs764004623       rs764071861       rs764178960       rs764442761       rs764511738       rs764582176       rs764662455       rs764684458       rs764751843       rs764886087       rs764926026       rs765116014       rs765133795       rs765152357       rs765196204       rs765591726       rs765627168       rs765723180       rs765744948       rs765900651       rs766045406       rs766264178       rs766381993       rs766383949       rs766499802       rs766648477       rs766683384       rs766777704       rs766789012       rs766921598       rs767055725       rs767439981       rs767577148       rs767615129       rs767623620       rs767700342       rs768143873       rs768158583       rs768248501       rs768269452       rs768357332       rs768512652       rs768690853       rs768815168       rs768835452       rs768902114       rs768939186       rs769024863       rs769176300       rs769256845       rs769404784       rs769494704       rs769832755       rs769839615       rs769955601       rs770043560       rs770050026       rs770068523       rs770219947       rs770425842       rs770470644       rs770516374       rs770710580       rs770852932       rs770912351       rs771107791       rs771107906       rs771232510       rs771617025       rs771673311       rs771694755       rs771782519       rs772101985       rs772227141       rs772258326       rs772318685       rs772344361       rs772472625       rs772761882       rs772875032       rs772878391       rs772953107       rs773140195       rs773241850       rs773328472       rs773336357       rs773370767       rs773377033       rs773457858       rs773615814       rs773733508       rs773744189       rs773985217       rs774258076       rs774380953       rs774525675       rs774579250       rs774593134       rs774774736       rs774811710       rs774976695       rs775143218       rs775241023       rs775269137       rs775522049       rs775625296       rs775732412       rs776221935       rs776391379       rs776396084       rs776487384       rs776685187       rs776765291       rs776790842       rs776883869       rs777008563       rs777101521       rs777151211       rs777232560       rs777411149       rs777429268       rs777450390       rs777557131       rs777939552       rs778024379       rs778026692       rs778100560       rs778119089       rs778180914       rs778295172       rs778475485       rs778478130       rs778506252       rs778608229       rs778624211       rs778708708       rs779118344       rs779136414       rs779243862       rs779322561       rs779438244       rs779443483       rs779563246       rs779756800       rs779993487       rs780010215       rs780293458       rs780372062       rs780475843       rs780498963       rs781033386       rs781152694       rs781229299       rs781526541       rs781544763       rs865881149      

PMEL基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
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
TGCCTCAATGTGTCTCTGG
60
AGAAGAATCCCAGGCACAG
59
AAGTACCCAGAAACCAGGAC
59
CACTTGACCACCTCTCCAG
60
CTGGTGAAGAGACAAGTCC
58
CAATACCCTGGACAATGTCC
58
GGTACTACACCTGGTCAGG
59
GTTGTTACCTGTGCAGCTG
60
CCAGTACCCAGAAACCAGG
60
GACACTTGACCACCTCTCC
60
AAGTACCCAGAAACCAGGAC
59
CACTTGACCACCTCTCCAG
60
TACTGCCTCAATGTGTCTCTG
60
AGAAGAATCCCAGGCACAG
59
CATCTTCCCTGATGGTGGA
59
TTCAATACCCTCCCAGGTC
58
CCCTCTGGAACCACATCTG
60
GTTGTTACCTGTGCAGCTG
60
TGGTGAAGAGACAAGTCCC
59
TCAATACCCTGGACAATGTCC
60
      尚未收录相关数据

PMEL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

PMEL基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0016021
F8VUB1(UniProtKB)
IEA
GO:0005515
P40967(UniProtKB)
IPI
GO:0005576
P40967(UniProtKB)
IEA
GO:0005789
P40967(UniProtKB)
IDA
GO:0005794
P40967(UniProtKB)
IDA
GO:0005886
P40967(UniProtKB)
TAS
GO:0005887
P40967(UniProtKB)
IBA
GO:0032438
P40967(UniProtKB)
IDA
GO:0032585
P40967(UniProtKB)
IDA
GO:0042438
P40967(UniProtKB)
IEA
GO:0042470
P40967(UniProtKB)
IDA
GO:0042470
P40967(UniProtKB)
IDA
GO:0048066
P40967(UniProtKB)
IBA
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

可能调控PMEL基因的相关microRNA:     


通路基因列表
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Asthma 0.12 1 1 GWASCAT
melanoma 0.033351131 79 0 BeFree_GAD_LHGDN
Cervix carcinoma 0.002714419 10 0 BeFree
Low Grade Squamous Intraepithelial Neoplasia 0.002714419 10 0 BeFree
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 0.002714419 10 0 BeFree
High-Grade Squamous Intraepithelial Lesions 0.002442977 9 0 BeFree
Albinism, Oculocutaneous 0.002367032 1 0 GAD
Metastatic melanoma 0.001900093 7 0 BeFree
Melanoma, B16 0.001357209 5 0 BeFree
Malignant tumor of cervix 0.001357209 5 0 BeFree
Vitiligo 0.000814326 3 0 BeFree
Squamous intraepithelial lesion 0.000814326 3 0 BeFree
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 0.000814326 3 0 BeFree
Squamous cell carcinoma 0.000542884 2 0 BeFree
Fowlpox 0.000542884 2 0 BeFree
HIV Infections 0.000542884 2 0 BeFree
leukemia 0.000542884 2 0 BeFree
Multiple Myeloma 0.000542884 2 0 BeFree
Neoplasm Metastasis 0.000542884 2 0 BeFree
Secondary malignant neoplasm of lung 0.000542884 2 0 BeFree
Hypopigmentation disorder 0.000542884 2 0 BeFree
Angiomyolipoma 0.000542884 2 0 BeFree
Coinfection 0.000542884 2 0 BeFree
Carcinogenesis 0.000542884 2 0 BeFree
Infiltrating Cervical Carcinoma 0.000542884 2 0 BeFree
Tumor Immunity 0.000542884 2 0 BeFree
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.000542884 2 0 BeFree
Adenocarcinoma 0.000271442 1 0 BeFree
Alcoholic Intoxication, Chronic 0.000271442 1 0 BeFree
Autoimmune Diseases 0.000271442 1 0 BeFree
Malignant tumor of colon 0.000271442 1 0 BeFree
Cervix Diseases 0.000271442 1 0 BeFree
Congenital chromosomal disease 0.000271442 1 0 BeFree
Disseminated Intravascular Coagulation 0.000271442 1 0 BeFree
Glioblastoma 0.000271442 1 0 BeFree
Glioma 0.000271442 1 0 BeFree
Graves Disease 0.000271442 1 0 BeFree
Pulmonary Hypertension 0.000271442 1 0 BeFree
Chronic Lymphocytic Leukemia 0.000271442 1 0 BeFree
Acute lymphocytic leukemia 0.000271442 1 0 BeFree
Leukemia, T-Cell 0.000271442 1 0 BeFree
Adult T-Cell Lymphoma/Leukemia 0.000271442 1 0 BeFree
Lymphoma 0.000271442 1 0 BeFree
Microphthalmos 0.000271442 1 0 BeFree
Pallor 0.000271442 1 0 BeFree
Precancerous Conditions 0.000271442 1 0 BeFree
Seizures 0.000271442 1 0 BeFree
Tetanus 0.000271442 1 0 BeFree
Thyroiditis 0.000271442 1 0 BeFree
Tumor Lysis Syndrome 0.000271442 1 0 BeFree
Hermanski-Pudlak Syndrome 0.000271442 1 0 BeFree
Dysplastic Nevus 0.000271442 1 0 BeFree
Neoplasm, Residual 0.000271442 1 0 BeFree
Canarypox (disorder) 0.000271442 1 0 BeFree
Hypothyroidism, Autoimmune 0.000271442 1 0 BeFree
Disseminated Malignant Neoplasm 0.000271442 1 0 BeFree
Malignant neoplasm of prostate 0.000271442 1 0 BeFree
Visual symptoms 0.000271442 1 0 BeFree
Humoral immune defect 0.000271442 1 0 BeFree
Prostate carcinoma 0.000271442 1 0 BeFree
invasive cancer 0.000271442 1 0 BeFree
Sentinel node (disorder) 0.000271442 1 0 BeFree
Lymphangioleiomyomatosis 0.000271442 1 0 BeFree
Sucrase-isomaltase deficiency, congenital 0.000271442 1 0 BeFree
Perivascular Epithelioid Cell Neoplasms 0.000271442 1 0 BeFree
MULTICYSTIC RENAL DYSPLASIA, BILATERAL 0.000271442 1 0 BeFree
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