Human Gene RPH3AL (ENST00000331302.12) from GENCODE V44
  Description: Homo sapiens rabphilin 3A like (without C2 domains) (RPH3AL), transcript variant 1, mRNA. (from RefSeq NM_006987)
RefSeq Summary (NM_006987): The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010].
Gencode Transcript: ENST00000331302.12
Gencode Gene: ENSG00000181031.16
Transcript (Including UTRs)
   Position: hg38 chr17:212,389-352,807 Size: 140,419 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr17:213,852-327,543 Size: 113,692 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:212,389-352,807)mRNA (may differ from genome)Protein (315 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPH3L_HUMAN
DESCRIPTION: RecName: Full=Rab effector Noc2; AltName: Full=No C2 domains protein; AltName: Full=Rabphilin-3A-like protein;
FUNCTION: 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.
SUBUNIT: Recruited to dense-core vesicles through specific interaction with RAB27A in endocrine cells. Interacts with RAB3A, RAB3B, RAB3C and RAB3D. Interacts with ZYX (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle, secretory vesicle membrane. Note=Recruited to the vesicle membrane in a GTP- and RAB3B-dependent manner in epithelial cells.
TISSUE SPECIFICITY: Moderate to high levels of expression in thyroid, ovary, stomach, heart, pancreas, skeletal muscle, kidney and liver. Also detected in epithelial cells.
DOMAIN: The N-terminus of the RabBD domain is necessary and sufficient for interaction with RAB27A (By similarity).
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 1 RabBD (Rab-binding) domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RPH3AL
Diseases sorted by gene-association score: medulloblastoma (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.79 RPKM in Pituitary
Total median expression: 106.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -110.90308-0.360 Picture PostScript Text
3' UTR -537.901463-0.368 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010911 - Rab-bd_domain
IPR003315 - Rabphilin3A_effector_Zn-bd
IPR017455 - Znf_FYVE-rel
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF02318 - FYVE-type zinc finger

ModBase Predicted Comparative 3D Structure on Q9UNE2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005544 calcium-dependent phospholipid binding
GO:0008092 cytoskeletal protein binding
GO:0017137 Rab GTPase binding
GO:0030274 LIM domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006887 exocytosis
GO:0017157 regulation of exocytosis
GO:0017158 regulation of calcium ion-dependent exocytosis
GO:0042493 response to drug
GO:0042593 glucose homeostasis
GO:0045744 negative regulation of G-protein coupled receptor protein signaling pathway
GO:0050714 positive regulation of protein secretion

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030141 secretory granule
GO:0030658 transport vesicle membrane
GO:0030667 secretory granule membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AF129812 - Homo sapiens candidate tumor suppressor protein NOC2 (NOC2) mRNA, complete cds.
AK000469 - Homo sapiens cDNA FLJ20462 fis, clone KAT06107.
BC005153 - Homo sapiens rabphilin 3A-like (without C2 domains), mRNA (cDNA clone MGC:3453 IMAGE:3529317), complete cds.
AK291950 - Homo sapiens cDNA FLJ77349 complete cds, highly similar to Homo sapiens rabphilin 3A-like (without C2 domains), mRNA.
BC093776 - Homo sapiens rabphilin 3A-like (without C2 domains), mRNA (cDNA clone MGC:120811 IMAGE:7939621), complete cds.
BC113413 - Homo sapiens rabphilin 3A-like (without C2 domains), mRNA (cDNA clone MGC:141973 IMAGE:8322465), complete cds.
BC143311 - Homo sapiens cDNA clone IMAGE:9051816.
HQ258174 - Synthetic construct Homo sapiens clone IMAGE:100072483 rabphilin 3A-like (without C2 domains) (RPH3AL) gene, encodes complete protein.
KJ892782 - Synthetic construct Homo sapiens clone ccsbBroadEn_02176 RPH3AL gene, encodes complete protein.
KJ898037 - Synthetic construct Homo sapiens clone ccsbBroadEn_07431 RPH3AL gene, encodes complete protein.
JD216594 - Sequence 197618 from Patent EP1572962.
JD290288 - Sequence 271312 from Patent EP1572962.
JD164731 - Sequence 145755 from Patent EP1572962.
JD380807 - Sequence 361831 from Patent EP1572962.
JD219797 - Sequence 200821 from Patent EP1572962.
JD376393 - Sequence 357417 from Patent EP1572962.
JD499781 - Sequence 480805 from Patent EP1572962.
JD526445 - Sequence 507469 from Patent EP1572962.
JD526444 - Sequence 507468 from Patent EP1572962.
JD287708 - Sequence 268732 from Patent EP1572962.
JD153847 - Sequence 134871 from Patent EP1572962.
JD154923 - Sequence 135947 from Patent EP1572962.
JD121166 - Sequence 102190 from Patent EP1572962.
JD308315 - Sequence 289339 from Patent EP1572962.
JD435526 - Sequence 416550 from Patent EP1572962.
JD529924 - Sequence 510948 from Patent EP1572962.
JD342444 - Sequence 323468 from Patent EP1572962.
JD567025 - Sequence 548049 from Patent EP1572962.
JD345835 - Sequence 326859 from Patent EP1572962.
JD398821 - Sequence 379845 from Patent EP1572962.
JD070589 - Sequence 51613 from Patent EP1572962.
JD099434 - Sequence 80458 from Patent EP1572962.
JD519078 - Sequence 500102 from Patent EP1572962.
JD212241 - Sequence 193265 from Patent EP1572962.
JD408582 - Sequence 389606 from Patent EP1572962.
JD274854 - Sequence 255878 from Patent EP1572962.
JD141195 - Sequence 122219 from Patent EP1572962.
JD152030 - Sequence 133054 from Patent EP1572962.
JD551199 - Sequence 532223 from Patent EP1572962.
JD122801 - Sequence 103825 from Patent EP1572962.
JD338344 - Sequence 319368 from Patent EP1572962.
JD413082 - Sequence 394106 from Patent EP1572962.
JD330044 - Sequence 311068 from Patent EP1572962.
JD204810 - Sequence 185834 from Patent EP1572962.
JD080968 - Sequence 61992 from Patent EP1572962.
JD064909 - Sequence 45933 from Patent EP1572962.
JD393866 - Sequence 374890 from Patent EP1572962.
JD310884 - Sequence 291908 from Patent EP1572962.
JD146274 - Sequence 127298 from Patent EP1572962.
JD415315 - Sequence 396339 from Patent EP1572962.
JD148710 - Sequence 129734 from Patent EP1572962.
JD195664 - Sequence 176688 from Patent EP1572962.
JD515886 - Sequence 496910 from Patent EP1572962.
JD415829 - Sequence 396853 from Patent EP1572962.
JD521817 - Sequence 502841 from Patent EP1572962.
JD426665 - Sequence 407689 from Patent EP1572962.
JD278542 - Sequence 259566 from Patent EP1572962.
JD194473 - Sequence 175497 from Patent EP1572962.
JD149563 - Sequence 130587 from Patent EP1572962.
JD107150 - Sequence 88174 from Patent EP1572962.
JD049413 - Sequence 30437 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DTG7, ENST00000331302.1, ENST00000331302.10, ENST00000331302.11, ENST00000331302.2, ENST00000331302.3, ENST00000331302.4, ENST00000331302.5, ENST00000331302.6, ENST00000331302.7, ENST00000331302.8, ENST00000331302.9, NM_006987, NOC2, Q9BSB3, Q9UNE2, RPH3L_HUMAN, uc002fre.1, uc002fre.2, uc002fre.3, uc002fre.4
UCSC ID: ENST00000331302.12
RefSeq Accession: NM_006987
Protein: Q9UNE2 (aka RPH3L_HUMAN)
CCDS: CCDS10994.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.