Details for: JPH3
Associated with
Other Information
Genular Protein ID: 3084659888
Symbol: JPH3_HUMAN
Name: Junctophilin-3
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10891348
Title: Characterization of human junctophilin subtype genes.
PubMed ID: 10891348
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 11694876
Title: A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
PubMed ID: 11694876
DOI: 10.1038/ng760
PubMed ID: 11914418
Title: CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
PubMed ID: 11914418
DOI: 10.1212/wnl.58.6.965
PubMed ID: 14557581
Title: Huntington's disease-like 2 can present as chorea-acanthocytosis.
PubMed ID: 14557581
Sequence Information:
- Length: 748
- Mass: 81469
- Checksum: B88E5065FD7BCD02
- Sequence:
MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC AGNGAKYEGT WSNGLQDGYG TETYSDGGTY QGQWVGGMRQ GYGVRQSVPY GMAAVIRSPL RTSINSLRSE HTNGTALHPD ASPAVAGSPA VSRGGFVLVA HSDSEILKSK KKGLFRRSLL SGLKLRKSES KSSLASQRSK QSSFRSEAGM STVSSTASDI HSTISLGEAE AELAVIEDDI DATTTETYVG EWKNDKRSGF GVSQRSDGLK YEGEWASNRR HGYGCMTFPD GTKEEGKYKQ NILVGGKRKN LIPLRASKIR EKVDRAVEAA ERAATIAKQK AEIAASRTSH SRAKAEAALT AAQKAQEEAR IARITAKEFS PSFQHRENGL EYQRPKRQTS CDDIEVLSTG TPLQQESPEL YRKGTTPSDL TPDDSPLQSF PTSPAATPPP APAARNKVAH FSRQVSVDEE RGGDIQMLLE GRAGDCARSS WGEEQAGGSR GVRSGALRGG LLVDDFRTRG SGRKQPGNPK PRERRTESPP VFTWTSHHRA SNHSPGGSRL LELQEEKLSN YRMEMKPLLR METHPQKRRY SKGGACRGLG DDHRPEDRGF GVQRLRSKAQ NKENFRPASS AEPAVQKLAS LRLGGAEPRL LRWDLTFSPP QKSLPVALES DEENGDELKS STGSAPILVV MVILLNIGVA ILFINFFI
Genular Protein ID: 3426467608
Symbol: Q96HD8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 31
- Mass: 3379
- Checksum: F725410AB5234D69
- Sequence:
MPPHSGQSRG RKPGSCLLLL LLLLLLLLLL L
Genular Protein ID: 420926293
Symbol: B4DIC1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 611
- Mass: 66774
- Checksum: 1A8A94669B8AF3B3
- Sequence:
MRQGYGVRQS VPYGMAAVIR SPLRTSINSL RSEHTNGTAL HPDASPAVAG SPAVSRGGFV LVAHSDSEIL KSKKKGLFRR SLLSGLKLRK SESKSSLASQ RSKQSSFRSE AGMSTVSSTA SDIHSTISLG EAEAELAVIE DDIDATTTET YVGEWKNDKR SGFGVSQRSD GLKYEGEWAS NRRHGYGCMT FPDGTKEEGK YKQNILVGGK RKNLIPLRAS KIREKVDRAV EAAERAATIA KQKAEIAASR TSHSRAKAEA ALTAAQKAQE EARIARITAK EFSPSFQHRE NGLEYQRPKR QTSCDDIEVL STGTPLQQES PELYRKGTTP SDLTPDDSPL QSFPTSPAAT PPPAPAARNK VAHFSRQVSV DEERGGDIQM LLEGRAGDCA RSSWGEEQAG GSRGVRSGAL RGGLLVDDFR TRGSGRKQPG NPKPRERRTE SPPVFTWTSH HRASNHSPGG SRLLELQEEK LSNYRMEMKP LLRMETHPQK RRYSKGGACR GLGDDHRPED RGFGVQRLRS KAQNKENFRP ASSAEPAVQK LASLRLGGAE PRLLRWDLTF SPPQKSLPVA LESDEENGDE LKSSTGSAPI LVVMVILLNI GVAILFINFF I
Genular Protein ID: 2429589751
Symbol: F8W9A3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 21697133
Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
PubMed ID: 21697133
DOI: 10.1167/iovs.11-7479
Sequence Information:
- Length: 186
- Mass: 19623
- Checksum: 09CD388F279A8F60
- Sequence:
MSSGGRFNFD DGGSYCGGWE DGKAHGHGVC TGPKGQGEYT GSWSHGFEVL GVYTWPSGNT YQGTWAQGKR HGIGLESKGK WVYKGEWTHG FKGRYGVREC AGNGAKYEGT WSNGLQDGYG TETYSDGDAT AFGAEPGPEA RELPAAAAAA AAAAAAAVRW FLCREPWPAL QLPACLDSPI STPQCT
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.