Human Gene RPH3AL (ENST00000331302.12_8) from GENCODE V47lift37

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Description: rabphilin 3A like (without C2 domains), transcript variant 1 (from RefSeq NM_006987.4)
Gencode Transcript: ENST00000331302.12_8
Gencode Gene: ENSG00000181031.16_12
Transcript (Including UTRs)
Position: hg19 chr17:62,180-202,598 Size: 140,419 Total Exon Count: 10 Strand: -
Coding Region
Position: hg19 chr17:63,643-177,334 Size: 113,692 Coding Exon Count: 8

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr17:62,180-202,598)			mRNA (may differ from genome)		Protein (315 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid 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

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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.
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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 D003993 Dibutyl Phthalate D013749 Tetrachlorodibenzodioxin C049325 1,2-dithiol-3-thione C009505 4,4'-diaminodiphenylmethane D015124 8-Bromo Cyclic Adenosine Monophosphate C547126 AZM551248 D000082 Acetaminophen D000643 Ammonium Chloride D001564 Benzo(a)pyrene D016572 Cyclosporine more ... click here to view the complete list

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-110.90	308	-0.360	Picture	PostScript	Text
3' UTR	-537.90	1463	-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

SCOP Domains:
57850 - RING/U-box
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q9UNE2


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

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. JD259192 - Sequence 240216 from Patent EP1572962. JD519078 - Sequence 500102 from Patent EP1572962. JD212241 - Sequence 193265 from Patent EP1572962. JD408582 - Sequence 389606 from Patent EP1572962. JD095246 - Sequence 76270 from Patent EP1572962. JD463055 - Sequence 444079 from Patent EP1572962. JD407069 - Sequence 388093 from Patent EP1572962. JD523485 - Sequence 504509 from Patent EP1572962. JD274854 - Sequence 255878 from Patent EP1572962. JD202363 - Sequence 183387 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. 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, uc317teg.1, uc317teg.2 UCSC ID: ENST00000331302.12_8 RefSeq Accession: NM_006987.4 Protein: Q9UNE2 (aka RPH3L_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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