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FLASH GENE
Symbol RNF135 contributors: KTN/npt - updated : 19/09/2008
HGNC name ring finger protein 135
HGNC id 21158
Corresponding disease
NF1DEL neurofibromatosis type 1 (see NF1) caused by microdeletions in 17q11.2
Location 17q11.2      Physical location : 29.297.955 - 29.326.928
Synonym symbol(s) L13, MGC13061
DNA
TYPE functioning gene
STRUCTURE 29.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
KIAA1361 17q11.2 serine/threonine protein kinase TAO1 homolog LOC116236 17q11.2 hypothetical protein LOC116236 LOC90313 17q11.2 hypothetical protein BC004507 GIT1 17p11.2 G protein-coupled receptor kinase-interactor 1 FLJ25555 17q11.2 hypothetical protein FLJ25555 FLJ14871 17q11.2 hypothetical protein FLJ14871 SSH2 17q11.2 slingshot 2 FLJ46247 17q11.2 FLJ46247 protein DKFZP434K1421 17q11.2 hypothetical protein DKFZp434K1421 SLC6A4 17q11.2 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 BLMH 17q11.2 bleomycin hydrolase LOC388364 17 similar to AWKS9372 CPD 17q11.2 carboxypeptidase D GOSR1 17q11.2 golgi SNAP receptor complex member 1 LOC390784 17 similar to Arachidonate 12-lipoxygenase, 12S-type (12-LOX) (Platelet-type lipoxygenase 12) LOC388365 17 LOC388365 DKFZP434O047 17q11.2 DKFZP434O047 protein LOC284089 17q11.2 similar to keratin 17 LOC388366 17 LOC388366 DKFZp667M2411 17q11.2 hypothetical protein DKFZp667M2411 LOC388367 17 similar to Joined to JAZF1 CRLF3 17q11.2 cytokine receptor-like factor 3 FLJ12735 17q11.2 cytokine receptor-like factor 3 FLJ22729 hypothetical protein FLJ22729 CENTA2 17q11.2 centaurin, alpha 2 RNF135 17q11.2 ring finger protein 135 NF1 17q11.2 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) OMG 17q11.2 oligodendrocyte myelin glycoprotein EVI2B 17q11.2 ecotropic viral integration site 2B EVI2A 17q11.2 ecotropic viral integration site 2A AK3P1 17q11.2 adenylate kinase 3 pseudogene 1 RAB11-FIP4 rab11-family interacting protein 4 LOC339281 17q11.2 hypothetical LOC339281 HSA272196 17q11.2 hypothetical protein, clone 2746033 HCA66 17q11.2 hepatocellular carcinoma-associated antigen 66 JJAZ1 17q11.2 hepatocellular carcinoma-associated antigen 66 LOC114659 KIAA0563-related gene LOC390785 17 hypothetical gene supported by NM_019613 ARHT1 17q11.2-q12 ras homolog gene family, member T1 RHBDL4 17q11.2 rhomboid, veinlet-like 4 (Drosophila) NJMU-R1 17q12 protein kinase Njmu-R1 ZNF207 17q11.2 zinc finger protein 207 PSMD11 17q12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 CDK5R1 17p11.2-q11 cyclin-dependent kinase 5, regulatory subunit 1 (p35) MYO1D 19p13.3-p13.2 myosin ID
regionally located in a chromosomal region frequently deleted in patients with neurofibromatosis
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 2195 47 432 - Jenne, Petroziello
4 splicing 2032 22 210 - Jenne, Petroziello
  • lacking an exon within the coding region compared to variant 1 which causes a translation frameshift
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineparathyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a RING finger domain, involved in protein-protein and protein-DNA interactions
  • a B30.2/SPRY domain at the C terminus
    • HOMOLOGY
    interspecies homolog to dog RNF135 (71.6 pc)
    homolog to chimpanzee RNF135 (98.2 pc)
    homolog to rattus Rnf135 (63.7 pc)
    homolog to murine Rnf135 (61.2 pc)
    Homologene
    FAMILY
  • zinc finger family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • acting as an ubiquitin ligase
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NF1DEL
    Susceptibility
    Variant & Polymorphism
    Candidate gene overgrowth
    Marker
    Therapy target
    ANIMAL & CELL MODELS