Details for: ALPK3
Associated with
Other Information
Genular Protein ID: 577666796
Symbol: ALPK3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10021370
Title: Alpha-kinases: a new class of protein kinases with a novel catalytic domain.
PubMed ID: 10021370
PubMed ID: 10718198
Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10718198
PubMed ID: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
PubMed ID: 27106955
Title: ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.
PubMed ID: 27106955
PubMed ID: 26846950
Title: Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy.
PubMed ID: 26846950
PubMed ID: 28630369
Title: ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
PubMed ID: 28630369
DOI: 10.1101/mcs.a001859
PubMed ID: 17344846
Title: Patterns of somatic mutation in human cancer genomes.
PubMed ID: 17344846
DOI: 10.1038/nature05610
PubMed ID: 30046096
Title: Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
PubMed ID: 30046096
Sequence Information:
- Length: 1705
- Mass: 180672
- Checksum: 474FE90C1F5C5230
- Sequence:
MGSRRAPSRG WGAGGRSGAG GDGEDDGPVW IPSPASRSYL LSVRPETSLS SNRLSHPSSG RSTFCSIIAQ LTEETQPLFE TTLKSRSVSE DSDVRFTCIV TGYPEPEVTW YKDDTELDRY CGLPKYEITH QGNRHTLQLY RCREEDAAIY QASAQNSKGI VSCSGVLEVG TMTEYKIHQR WFAKLKRKAA AKLREIEQSW KHEKAVPGEV DTLRKLSPDR FQRKRRLSGA QAPGPSVPTR EPEGGTLAAW QEGETETAQH SGLGLINSFA SGEVTTNGEA APENGEDGEH GLLTYICDAM ELGPQRALKE ESGAKKKKKD EESKQGLRKP ELEKAAQSRR SSENCIPSSD EPDSCGTQGP VGVEQVQTQP RGRAARGPGS SGTDSTRKPA SAVGTPDKAQ KAPGPGPGQE VYFSLKDMYL ENTQAVRPLG EEGPQTLSVR APGESPKGKA PLRARSEGVP GAPGQPTHSL TPQPTRPFNR KRFAPPKPKG EATTDSKPIS SLSQAPECGA QSLGKAPPQA SVQVPTPPAR RRHGTRDSTL QGQAGHRTPG EVLECQTTTA PTMSASSSSD VASIGVSTSG SQGIIEPMDM ETQEDGRTSA NQRTGSKKNV QADGKIQVDG RTRGDGTQTA QRTRADRKTQ VDAGTQESKR PQSDRSAQKG MMTQGRAETQ LETTQAGEKI QEDRKAQADK GTQEDRRMQG EKGMQGEKGT QSEGSAPTAM EGQSEQEVAT SLGPPSRTPK LPPTAGPRAP LNIECFVQTP EGSCFPKKPG CLPRSEEAVV TASRNHEQTV LGPLSGNLML PAQPPHEGSV EQVGGERCRG PQSSGPVEAK QEDSPFQCPK EERPGGVPCM DQGGCPLAGL SQEVPTMPSL PGTGLTASPK AGPCSTPTSQ HGSTATFLPS EDQVLMSSAP TLHLGLGTPT QSHPPETMAT SSEGACAQVP DVEGRTPGPR SCDPGLIDSL KNYLLLLLKL SSTETSGAGG ESQVGAATGG LVPSATLTPT VEVAGLSPRT SRRILERVEN NHLVQSAQTL LLSPCTSRRL TGLLDREVQA GRQALAAARG SWGPGPSSLT VPAIVVDEED PGLASEGASE GEGEVSPEGP GLLGASQESS MAGRLGEAGG QAAPGQGPSA ESIAQEPSQE EKFPGEALTG LPAATPEELA LGARRKRFLP KVRAAGDGEA TTPEERESPT VSPRGPRKSL VPGSPGTPGR ERRSPTQGRK ASMLEVPRAE EELAAGDLGP SPKAGGLDTE VALDEGKQET LAKPRKAKDL LKAPQVIRKI RVEQFPDASG SLKLWCQFFN ILSDSVLTWA KDQRPVGEVG RSAGDEGPAA LAIVQASPVD CGVYRCTIHN EHGSASTDFC LSPEVLSGFI SREEGEVGEE IEMTPMVFAK GLADSGCWGD KLFGRLVSEE LRGGGYGCGL RKASQAKVIY GLEPIFESGR TCIIKVSSLL VFGPSSETSL VGRNYDVTIQ GCKIQNMSRE YCKIFAAEAR AAPGFGEVPE IIPLYLIYRP ANNIPYATLE EDLGKPLESY CSREWGCAEA PTASGSSEAM QKCQTFQHWL YQWTNGSFLV TDLAGVDWKM TDVQIATKLR GYQGLKESCF PALLDRFASS HQCNAYCELL GLTPLKGPEA AHPQAKAKGS KSPSAGRKGS QLSPQPQKKG LPSPQGTRKS APSSKATPQA SEPVTTQLLG QPPTQEEGSK AQGMR
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.