Details for: AHI1
Associated with
Other Information
Genular Protein ID: 2529964664
Symbol: AHI1_HUMAN
Name: Jouberin
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15169551
Title: Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults.
PubMed ID: 15169551
PubMed ID: 11230166
Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
PubMed ID: 11230166
DOI: 10.1101/gr.gr1547r
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
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: 14751929
Title: Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia.
PubMed ID: 14751929
PubMed ID: 15322546
Title: Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
PubMed ID: 15322546
DOI: 10.1038/ng1419
PubMed ID: 18633336
Title: Jouberin localizes to collecting ducts and interacts with nephrocystin-1.
PubMed ID: 18633336
DOI: 10.1038/ki.2008.377
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 21623382
Title: Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
PubMed ID: 21623382
DOI: 10.1038/nm.2380
PubMed ID: 23532844
Title: The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
PubMed ID: 23532844
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 22623184
Title: Molecular and structural characterization of the SH3 domain of AHI-1 in regulation of cellular resistance of BCR-ABL(+) chronic myeloid leukemia cells to tyrosine kinase inhibitors.
PubMed ID: 22623184
PubMed ID: 15467982
Title: Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
PubMed ID: 15467982
DOI: 10.1086/425985
PubMed ID: 16453322
Title: AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
PubMed ID: 16453322
DOI: 10.1002/ana.20749
PubMed ID: 16155189
Title: AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
PubMed ID: 16155189
PubMed ID: 22425360
Title: Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
PubMed ID: 22425360
Sequence Information:
- Length: 1196
- Mass: 137115
- Checksum: 16A237C915DABF0F
- Sequence:
MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP QKQSINKNKS QDFRLGSESM THSEMRKEQS HEDQGHIMDT RMRKNKQAGR KVTLIE
Genular Protein ID: 387427465
Symbol: A0A7P0T7Z8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
Sequence Information:
- Length: 1186
- Mass: 135612
- Checksum: ABC5D9AAC50EF033
- Sequence:
MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN MLTAQEILHQ FGFTQTGIIS IERKPCNHQV DTAPTVVALY DYTANRSDEL TIHRGDIIRV FFKDNEDWWY GSIGKGQEGY FPANHVASET LYQELPPEIK ERSPPLSPEE KTKIEKSPAP QKVGDNTGGQ RSWMLLSILE CRGQLPSTKN SLAKNVNRME LRAVPL
Genular Protein ID: 2780692504
Symbol: Q8NER0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12186888
Title: Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.
PubMed ID: 12186888
Sequence Information:
- Length: 10
- Mass: 1062
- Checksum: 838C04DB05BB1DC1
- Sequence:
MPTAESEAKV
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.