RPH3AL Gene
protein-coding GIFtS: 54
GCID: GC17M000062
|
|
rabphilin 3A-like (without C2 domains)
| |
Aliases
for RPH3AL gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Rabphilin 3A-Like (Without C2 Domains)1 2 | | NOC22 3 5 | | No C2 Domains Protein2 3 | | Noc21 | | Rab Effector Noc22 | | Rabphilin-3A-Like Protein3 |
Export aliases for RPH3AL gene to outside databasesPrevious GC identifers: GC17M000112 GC17M000100 |
Summaries
for RPH3AL gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RPH3AL:
The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrineand exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumorsuppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. (provided byRefSeq, Jun 2010)
UniProtKB/Swiss-Prot: RPH3L_HUMAN, Q9UNE2Function: Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells(By similarity). Acts as a potential RAB3B effector protein in epithelial cells
Gene Wiki entry for RPH3AL
|
Genomic Views
for RPH3AL gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_024972.8
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RPH3AL gene promoter:
SRF SRF (504 AA) p300 HSF1 (long) AREB6 IRF-2 HSF1short IRF-7A FOXO1a FOXO1
Other transcription factors
Search SABiosciences Chromatin IP Primers for RPH3AL
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPH3AL |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.3 HGNC cytogenetic band: 17p13.3RPH3AL Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M000062: view genomic region
(about GC identifiers)
Start:
|
62,180 bp from pter |
End:
|
236,045 bp from pter |
Size:
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173,866 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr17-,PATCHES 62,180-220,466 |
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Proteins
for RPH3AL gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RPH3L_HUMAN, Q9UNE2 (See
protein sequence)Recommended Name: Rab effector Noc2 Size: 315 amino acids; 34464 Da
Subunit: Recruited to dense-core vesicles through specific interaction with RAB27A in endocrine cells. Interacts withRAB3A, RAB3B, RAB3C and RAB3D. Interacts with ZYX (By similarity)
Subcellular location: Cytoplasm. Cytoplasmic vesicle, secretory vesicle membrane. Note=Recruited to the vesiclemembrane in a GTP- and RAB3B-dependent manner in epithelial cells
Secondary accessions: D3DTG7 Q9BSB3Alternative splicing: 2 isoforms: Q9UNE2-1 Q9UNE2-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RPH3AL: NX_Q9UNE2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UNE2
RPH3AL Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001177340.1 NP_001177341.1 NP_001177342.1 NP_008918.1
ENSEMBL proteins: ENSP00000328977 ENSP00000319210 ENSP00000438224 ENSP00000460080 ENSP00000459795 ENSP00000459716 ENSP00000460580 ENSP00000459666 ENSP00000459992 ENSP00000459001 ENSP00000460171 ENSP00000461885 ENSP00000459975 ENSP00000458643
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
RPH3AL for ontologies About GeneDecksing
RPH3AL Antibody Products:
Assay Products for RPH3AL: |
Protein
Domains /
Families
for RPH3AL gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RPH3AL for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UNE2ProtoNet protein and cluster: Q9UNE2 1 Blocks protein family: IPB000306 Zn-finger
UniProtKB/Swiss-Prot: RPH3L_HUMAN, Q9UNE2Domain: The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A (By similarity)Similarity: Contains 1 FYVE-type zinc fingerSimilarity: Contains 1 RabBD (Rab-binding) domain |
Function
for RPH3AL gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RPH3L_HUMAN, Q9UNE2Function: Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells(By similarity). Acts as a potential RAB3B effector protein in epithelial cells Genatlas biochemistry entry for RPH3AL:rabphillin 3A-like,ortholog of rat Rph3al,involved in regulated endocrine exocytosis,but not in the oncogenesis ofmedulloblastoma or other carcinomas
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RPH3AL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RPH3AL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPH3AL |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
RPH3AL for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Rph3altm1Sse for RPH3AL
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Rph3al):
RPH3AL for phenotypes About GeneDecksing
|
Pathways & Interactions
for RPH3AL gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | |
1  BioSystems Pathway for RPH3AL
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPH3AL
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/14 Interacting proteins for RPH3AL (Q9UNE23 ENSP000003192104) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
RPH3AL for ontologies About GeneDecksing
|
Drugs & Compounds
for RPH3AL gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RPH3AL
1 HMDB Compound for RPH3AL About this table
Search CenterWatch for drugs/clinical trials and news about RPH3AL / RPH3L
|
Transcripts
for RPH3AL gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RPH3AL gene (4 alternative transcripts): NM_001190411.1 NM_001190412.1 NM_001190413.1 NM_006987.3 Unigene Cluster for RPH3AL: Rabphilin 3A-like (without C2 domains) Hs.651925 [show with all ESTs]Unigene Representative Sequence: BC00515318/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21): ENST00000331302(uc010vpy.2 uc002fre.2 uc021tmx.1) ENST00000323434(uc002frf.2 uc010cjl.2)
ENST00000572965 ENST00000536489 ENST00000572075 ENST00000570893 ENST00000576001
ENST00000570954 ENST00000576420 ENST00000577079 ENST00000574722 ENST00000570638
ENST00000574953 ENST00000573780 ENST00000575736 ENST00000575130 ENST00000575634
ENST00000573588
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RPH3AL (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RPH3AL
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): RPH3AL (NM_006987) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RPH3AL | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPH3AL |
Additional cDNA sequence: AF129812.1 AK000469.1 AK125265.1 AK291950.1 BC005153.1 BC093776.1 BC113413.1 BC143311.1 10 DOTS entries: DT.95265080 DT.97767703 DT.95265077 DT.91930087 DT.102630 DT.100024581 DT.120970368 DT.92421235 DT.100024580 DT.75195646 24/82 AceView cDNA sequences (see all 82): BM126316 BM264290 BU071688 AI027577 BF058077 BX393787 BU197069 AI298597 AW338854 CD722823 CK818910 CK818909 BG506767 AK000469 BE041511 BG331746 AV708334 AA933807 AF129812 AW592891 AI004159 NM_006987 BF433309 BM048250
GeneLoc Exon Structure
|
Expression
for RPH3AL gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RPH3AL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAATACTTC
About this image
See RPH3AL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RPH3AL
SOURCE GeneReport for Unigene cluster: Hs.651925
UniProtKB/Swiss-Prot: RPH3L_HUMAN, Q9UNE2Tissue specificity: Moderate to high levels of expression in thyroid, ovary, stomach, heart, pancreas, skeletal muscle,kidney and liver. Also detected in epithelial cells
SABiosciences Custom PCR Arrays for RPH3AL
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RPH3AL
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RPH3AL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RPH3AL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RPH3AL | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPH3AL |
Orthologs
for RPH3AL gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for RPH3AL gene from 5/15 species (see all 15) About this table
ENSEMBL Gene Tree for RPH3AL (if available)
TreeFam Gene Tree for RPH3AL (if available) |
Paralogs
for RPH3AL gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for RPH3AL gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RPH3AL (62180 - 236045 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 50 variations for RPH3AL
15/29 CNVs (see all 29): 77474 102370 39191 88284 72740 72735 35434 7146 49946 77476 72737 35487 35488 72732 7144
15/21 Indels (see all 21): 25777 72736 45507 49948 45508 42049 45505 42982 72733 11855 72728 67093 25792 45503 25985
Human Gene Mutation Database (HGMD): RPH3AL
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPH3AL |
|
Disorders
/ Diseases
for RPH3AL gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RPH3AL for disorders About GeneDecksing
OMIM gene information: 604881
OMIM disorders: --
8  diseases for RPH3AL: About MalaCardsmiller-dieker syndrome pancreatitis lissencephaly medulloblastoma
colorectal cancer thyroiditis adenocarcinoma carcinoma
Human Genome Epidemiology (HuGE) Navigator: RPH3AL (2 documents)
Export disorders for RPH3AL gene to outside databases
|
Publications
for RPH3AL gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RPH3AL gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with RPH3AL) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a candidate 17p13.3 medulloblastoma tumor suppressor locus. (PubMed id 10395805)1, 2, 3 Smith J.S.... Raffel C. (1999)
- Identification and characterization of Noc2 as a potential Rab3B effector protein in epithelial cells. (PubMed id 15003533)1, 2, 9 Manabe S.... Sasaki T. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Immunohistochemical expression of rabphilin-3A-like (Noc2) in normal and tumor tissues of human endocrine pancreas. (PubMed id 19212825)1, 9 Shanmugam C....Manne U. (2009)
- Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PubMed id 12578829)1, 9 Fukuda M. (2003)
- Mutations of rabphillin-3A-like gene in colorectal cancers. (PubMed id 12375017)1, 9 Goi T....Yamaguchi A. (2002)
- Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma. (PubMed id 17981610)1, 9 Katkoori V.R....Manne U. (2008)
- Genome-wide association study implicates PARD3B-based AIDS restriction. (PubMed id 21502085)1 Troyer J.L....O'Brien S.J. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
|
External Searches for RPH3AL gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RPH3AL gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RPH3AL gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RPH3AL gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for RPH3AL | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RPH3AL gene:
Search GeneIP for patents involving RPH3AL
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RPH3AL gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RPH3AL | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPH3AL | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPH3AL | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RPH3AL | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RPH3AL | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RPH3AL |
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 | | | RPH3AL Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPH3AL |
|  |  |  | | | | ThermoFisher Antibodies for RPH3AL |
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