Details for: ADCY5
Associated with
Other Information
Genular Protein ID: 69629043
Symbol: ADCY5_HUMAN
Name: Adenylate cyclase type 5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 12503609
Title: Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.
PubMed ID: 12503609
PubMed ID: 10481931
Title: Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues.
PubMed ID: 10481931
PubMed ID: 15385642
Title: Raf kinase activation of adenylyl cyclases: isoform-selective regulation.
PubMed ID: 15385642
DOI: 10.1124/mol.66.4.921
PubMed ID: 24740569
Title: ADCY5 couples glucose to insulin secretion in human islets.
PubMed ID: 24740569
DOI: 10.2337/db13-1607
PubMed ID: 26206488
Title: Adenylyl cyclase 5 regulation by Gbetagamma involves isoform specific use of multiple interaction sites.
PubMed ID: 26206488
PubMed ID: 22782511
Title: Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
PubMed ID: 22782511
PubMed ID: 24700542
Title: Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
PubMed ID: 24700542
DOI: 10.1002/ana.24119
PubMed ID: 26085604
Title: ADCY5 mutations are another cause of benign hereditary chorea.
PubMed ID: 26085604
PubMed ID: 28971144
Title: Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.
PubMed ID: 28971144
PubMed ID: 30975617
Title: Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
PubMed ID: 30975617
PubMed ID: 33704598
Title: Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
PubMed ID: 33704598
PubMed ID: 34631954
Title: A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.
PubMed ID: 34631954
DOI: 10.1002/mdc3.13310
Sequence Information:
- Length: 1261
- Mass: 138908
- Checksum: C50492A0B053694F
- Sequence:
MSGSKSVSPP GYAAQKTAAP APRGGPEHRS AWGEADSRAN GYPHAPGGSA RGSTKKPGGA VTPQQQQRLA SRWRSDDDDD PPLSGDDPLA GGFGFSFRSK SAWQERGGDD CGRGSRRQRR GAASGGSTRA PPAGGGGGSA AAAASAGGTE VRPRSVEVGL EERRGKGRAA DELEAGAVEG GEGSGDGGSS ADSGSGAGPG AVLSLGACCL ALLQIFRSKK FPSDKLERLY QRYFFRLNQS SLTMLMAVLV LVCLVMLAFH AARPPLQLPY LAVLAAAVGV ILIMAVLCNR AAFHQDHMGL ACYALIAVVL AVQVVGLLLP QPRSASEGIW WTVFFIYTIY TLLPVRMRAA VLSGVLLSAL HLAIALRTNA QDQFLLKQLV SNVLIFSCTN IVGVCTHYPA EVSQRQAFQE TRECIQARLH SQRENQQQER LLLSVLPRHV AMEMKADINA KQEDMMFHKI YIQKHDNVSI LFADIEGFTS LASQCTAQEL VMTLNELFAR FDKLAAENHC LRIKILGDCY YCVSGLPEAR ADHAHCCVEM GMDMIEAISL VREVTGVNVN MRVGIHSGRV HCGVLGLRKW QFDVWSNDVT LANHMEAGGK AGRIHITKAT LNYLNGDYEV EPGCGGERNA YLKEHSIETF LILRCTQKRK EEKAMIAKMN RQRTNSIGHN PPHWGAERPF YNHLGGNQVS KEMKRMGFED PKDKNAQESA NPEDEVDEFL GRAIDARSID RLRSEHVRKF LLTFREPDLE KKYSKQVDDR FGAYVACASL VFLFICFVQI TIVPHSIFML SFYLTCSLLL TLVVFVSVIY SCVKLFPSPL QTLSRKIVRS KMNSTLVGVF TITLVFLAAF VNMFTCNSRD LLGCLAQEHN ISASQVNACH VAESAVNYSL GDEQGFCGSP WPNCNFPEYF TYSVLLSLLA CSVFLQISCI GKLVLMLAIE LIYVLIVEVP GVTLFDNADL LVTANAIDFF NNGTSQCPEH ATKVALKVVT PIIISVFVLA LYLHAQQVES TARLDFLWKL QATEEKEEME ELQAYNRRLL HNILPKDVAA HFLARERRND ELYYQSCECV AVMFASIANF SEFYVELEAN NEGVECLRLL NEIIADFDEI ISEDRFRQLE KIKTIGSTYM AASGLNDSTY DKVGKTHIKA LADFAMKLMD QMKYINEHSF NNFQMKIGLN IGPVVAGVIG ARKPQYDIWG NTVNVASRMD STGVPDRIQV TTDMYQVLAA NTYQLECRGV VKVKGKGEMM TYFLNGGPPL S
Genular Protein ID: 2074900770
Symbol: B7Z2C7_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 978
- Mass: 110064
- Checksum: 1FF7FB611BD419A8
- Sequence:
MAVLCNRAAF HQDHMGLACY ALIAVVLAVQ VVGLLLPQPR SASEGIWWTV FFIYTIYTLL PVRMRAAVLS GVLLSALHLA IALRTNAQDQ FLLKQLVSNV LIFSCTNIVG VCTHYPAEVS QRQAFQETRE CIQARLHSQR ENQQQERLLL SVLPRHVAME MKADINAKQE DMMFHKIYIQ KHDNVSILFA DIEGFTSLAS QCTAQELVMT LNELFARFDK LAAENHCLRI KILGDCYYCV SGLPEARADH AHCCVEMGMD MIEAISLVRE VTGVNVNMRV GIHSGRVHCG VLGLRKWQFD VWSNDVTLAN HMEAGGKAGR IHITKATLNY LNGDYEVEPG CGGERNAYLK EHSIETFLIL RCTQKRKEEK AMIAKMNRQR TNSIGHNPPH WGAERPFYNH LGGNQVSKEM KRMGFEDPKD KNAQESANPE DEVDEFLGRA IDARSIDRLR SEHVRKFLLT FREPDLEKKY SKQVDDRFGA YVACASLVFL FICFVQITIV PHSIFMLSFY LTCSLLLTLV VFVSVIYSCV KLFPSPLQTL SRKIVRSKMN STLVGVFTIT LVFLAAFVNM FTCNSRDLLG CLAQEHNISA SQVNACHVAE SAVNYSLGDE QGFCGSPWPN CNFPEYFTYS VLLSLLACSV FLQISCIGKL VLMLAIELIY VLIVEVPGVT LFDNADLLVT ANAIDFFNNG TSQCPEHATK VALKVVTPII ISVFVLALYL HAQQVESTAR LDFLWKLQAT EEKEEMEELQ AYNRRLLHNI LPKDVAAHFL ARERRNDELY YQSCECVAVM FASIANFSEF YVELEANNEG VECLRLLNEI IADFDEIISE DRFRQLEKIK TIGSTYMAAS GLNDSTYDKV GKTHIKALAD FAMKLMDQMK YINEHSFNNF QMKIGLNIGP VVAGVIGARK PQYDIWGNTV NVASRMDSTG VPDRIQVTTD MYQVLAANTY QLECRGVVKV KGKGEMMTYF LNGGPPLS
Genular Protein ID: 346821613
Symbol: B3KWA8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
Sequence Information:
- Length: 919
- Mass: 103868
- Checksum: DC89BB6B6C4D9F6E
- Sequence:
MAPSRFRTQL ELVSNVLIFS CTNIVGVCTH YPAEVSQRQA FQETRECIQA RLHSQRENQQ QERLLLSVLP RHVAMEMKAD INAKQEDMMF HKIYIQKHDN VSILFADIEG FTSLASQCTA QELVMTLNEL FARFDKLAAE NHCLRIKILG DCYYCVSGLP EARADHAHCC VEMGMDMIEA ISLVREVTGV NVNMRVGIHS GRVHCGVLGL RKWQFDVWSN DVTLANHMEA GGKAGRIHIT KATLNYLNGD YEVEPGCGGE RNAYLKEHSI ETFLILRCTQ KRKEEKAMIA KMNRQRTNSI GHNPPHWGAE RPFYNHLGGN QVSKEMKRMG FEDPKDKNAQ ESANPEDEVD EFLGRAIDAR SIDRLRSEHV RKFLLTFREP DLEKKYSKQV DDRFGAYVAC ASLVFLFICF VQITIVPHSI FMLSFYLTCS LLLTLVVFVS VIYSCVKLFP SPLQTLSRKI VRSKMNSTLV GVFTITLVFL AAFVNMFTCN SRDLLGCLAQ EHNISASQVN ACHVAESAVN YSLGDEQGFC GSPWPNCNFP EYFTYSVLLS LLACSVFLQI SCIGKLVLML AIELIYVLIV EVPGVTLFDN ADLLVTANAI DFFNNGTSQW SLCENLRHRR MEAGTYFPSG VKEQSPEHAT KVALKVVTPI IISVFVLALY LHAQQVESTA RLDFLWKLQA TEEKEEMEEL QAYNRRLLHN ILPKDVAAHF LARERRNDEL YYQSCECVAV MFASIANFSE FYVELEANNE GVECLRLLNE IIADFDEIIS EDRFRQLEKI KTIGSTYMAA SGLNDSTYDK VGKTHIKALA DFAMKLMDQM KYINEHSFNN FQMKIGLNIG PVVAGVIGAR KPQYDIWGNT VNVASRMDST GVPDRIQVTT DMYQVLAANT YQLECRGVVK VKGKGEMMTY FLNGGPPLS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.