Details for: MKS1
Associated with
Other Information
Genular Protein ID: 1375619551
Symbol: MKS1_HUMAN
Name: Meckel syndrome type 1 protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16415886
Title: MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
PubMed ID: 16415886
DOI: 10.1038/ng1714
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16625196
Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PubMed ID: 16625196
DOI: 10.1038/nature04689
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: 17185389
Title: The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
PubMed ID: 17185389
DOI: 10.1093/hmg/ddl459
PubMed ID: 19515853
Title: Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
PubMed ID: 19515853
DOI: 10.1093/hmg/ddp272
PubMed ID: 19208769
Title: Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
PubMed ID: 19208769
DOI: 10.1242/jcs.028621
PubMed ID: 22121117
Title: A meckelin-filamin A interaction mediates ciliogenesis.
PubMed ID: 22121117
DOI: 10.1093/hmg/ddr557
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 26595381
Title: TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
PubMed ID: 26595381
DOI: 10.1038/ncb3273
PubMed ID: 18327255
Title: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
PubMed ID: 18327255
DOI: 10.1038/ng.97
PubMed ID: 19466712
Title: Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
PubMed ID: 19466712
DOI: 10.1002/humu.21057
PubMed ID: 24886560
Title: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
PubMed ID: 24886560
PubMed ID: 27377014
Title: MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
PubMed ID: 27377014
PubMed ID: 26490104
Title: MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
PubMed ID: 26490104
Sequence Information:
- Length: 559
- Mass: 64528
- Checksum: 3E4EBFDAFA8FB39D
- Sequence:
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG ERLSRFGLRT ETTGTVTFRL HCLQQSRAFM ESSSLQKRMR SVLDRLEGFS QQSSIHNVLE AFRRARRRMQ EARESLPQDL VSPSGTLVS
Genular Protein ID: 1478080360
Symbol: A0A7I2V2M0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16625196
Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PubMed ID: 16625196
DOI: 10.1038/nature04689
Sequence Information:
- Length: 561
- Mass: 63648
- Checksum: B830CBC9789505F6
- Sequence:
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL PATPGSHTLT VSTWRPVELG TVAELRRFFI GGSLELEDLS YVRIPGSFKG LHGIELPSEK DAECVGPSGR VQPAEFHSQC ARGLPSSPAP HAGGPGKPPA GPSEPLWNPG LLAHSSPGPQ CKRTRWGISE ASALLPLRLS D
Genular Protein ID: 1271754297
Symbol: H0Y2S2_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16625196
Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PubMed ID: 16625196
DOI: 10.1038/nature04689
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
Sequence Information:
- Length: 456
- Mass: 52755
- Checksum: 7C76CB8CE0FCF011
- Sequence:
MAETVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAELGKD LIDLATFRPQ PTASGHRPEE DEEEEIVIGW QEKLFSQFEV DLYQNETACQ SPLDYQYRQE ILKLENSGGK KNRRIFTYTD SDRYTNLEEH CQRMTTAASE VPSFLVERMA NVRRRRQDRR GMEGGILKSR IVTWEPSEEF VRNNHVINTP LQTMHIMADL GPYKKLGYKK YEHVLCTLKV DSNGVITVKP DFTGLKGPYR IETEGEKQEL WKYTIDNVSP HAQPEEEERE RRVFKDLYGR HKEYLSSLVG TDFEMTVPGA LRLFVNGEVV SAQGYEYDNL YVHFFVELPT AHWSSPAFQQ LSGVTQTCTT KSLAMDKVAH FSYPFTFEAF FLHEDESSDA LPEWPVLYCE VLSLDFWQRY RVEGYGAVVL PATPGPSWNR APFRKGCGVC WTVWKGSASR VPFTMC
Genular Protein ID: 2319326387
Symbol: B4DVC5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 356
- Mass: 40799
- Checksum: EFC45730F9493BD1
- Sequence:
MHIMADLGPY KKLGYKKYEH VLCTLKVDSN GVITVKPDFT GLKGPYRIET EGEKQELWKY TIDNVSPHAQ PEEEERERRV FKDLYGRHKE YLSSLVGTDF EMTVPGALRL FVNGEVVSAQ GYEYDNLYVH FFVELPTAHW SSPAFQQLSG VTQTYTTKSL AMDKVAHFSY PFTFEAFFLH EDESSDALPE WPVLYCEVLS LDFWQRYRVE GYGAVVLPAT PGSHTLTVST WRPVELGTVA ELRRFFIGGS LELEDLSYVR IPGSFKGERL SRFGLRTETT GTVTFRLHCL QQSRAFMESS SLQKRMRSVL DRLEGFSQQS SIHNVLEAFR RARRRMQEAR ESLPQDLVSP SGTLVS
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.