Details for: CHM
Associated with
Other Information
Genular Protein ID: 3113907263
Symbol: RAE1_HUMAN
Name: Rab proteins geranylgeranyltransferase component A 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7981670
Title: Cloning and characterization of the human choroideremia gene.
PubMed ID: 7981670
DOI: 10.1093/hmg/3.7.1041
PubMed ID: 15772651
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: 1549574
Title: Isolation of a candidate gene for choroideremia.
PubMed ID: 1549574
PubMed ID: 2215697
Title: Cloning of a gene that is rearranged in patients with choroideraemia.
PubMed ID: 2215697
DOI: 10.1038/347674a0
PubMed ID: 1598901
Title: Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.
PubMed ID: 1598901
PubMed ID: 1904992
PubMed ID: 7957092
Title: Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.
PubMed ID: 7957092
PubMed ID: 18532927
Title: Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate.
PubMed ID: 18532927
DOI: 10.1042/bj20080662
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 21905166
Title: Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase.
PubMed ID: 21905166
DOI: 10.1002/humu.21591
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26824392
Title: Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.
PubMed ID: 26824392
DOI: 10.7554/elife.12813
PubMed ID: 29125462
Title: Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.
PubMed ID: 29125462
DOI: 10.7554/elife.31012
PubMed ID: 7951216
PubMed ID: 19427510
Title: The functional effect of pathogenic mutations in Rab escort protein 1.
PubMed ID: 19427510
Sequence Information:
- Length: 653
- Mass: 73476
- Checksum: 7CFFAECE7BA1F3AF
- Sequence:
MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK EYQENSDIVS DSPVWQDQIL ENEEAIALSR KDKTIQHVEV FCYASQDLHE DVEEAGALQK NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE
Genular Protein ID: 3829388678
Symbol: B4DRL9_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 505
- Mass: 57265
- Checksum: 15F801C543052012
- Sequence:
MSCEMLTEQT PSSDPENALE VNGAEVTGEK ENHCDDKTCV PSTSAEDMSE NVPIAEDTTE QPKKNRITYS QIIKEGRRFN IDLVSKLLYS RGLLIDLLIK SNVSRYAEFK NITRILAFRE GRVEQVPCSR ADVFNSKQLT MVEKRMLMKF LTFCMEYEKY PDEYKGYEEI TFYEYLKTQK LTPNLQYIVM HSIAMTSETA SSTIDGLKAT KNFLHCLGRY GNTPFLFPLY GQGELPQCFC RMCAVFGGIY CLRHSVQCLV VDKESRKCKA IIDQFGQRII SEHFLVEDSY FPENMCSRVQ YRQISRAVLI TDRSVLKTDS DQQISILTVP AEEPGTFAVR VIELCSSTMT CMKGTYLVHL TCTSSKTARE DLESVVQKLF VPYTEMEIEN EQVEKPRILW ALYFNMRDSS DISRSCYNDL PSNVYVCSGP DCGLGNDNAV KQAETLFQEI CPNEDFCPPP PNPEDIILDG DSLQPEASES SAIPEANSET FKESTNLGNL EESSE
Genular Protein ID: 2027369497
Symbol: A8K545_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 653
- Mass: 73492
- Checksum: ED59BECE7E32A271
- Sequence:
MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK EYQENSDIVS DSPVWQDQIL ENEEAIALCR KDKTIQHVEV FCYASQDLHE DVEEAGALQK NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE
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.