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RPH3AL rabphilin 3A like (without C2 domains) [ Homo sapiens (human) ]

Gene ID: 9501, updated on 11-Jun-2021

Summary

Official Symbol
RPH3ALprovided by HGNC
Official Full Name
rabphilin 3A like (without C2 domains)provided by HGNC
Primary source
HGNC:HGNC:10296
See related
Ensembl:ENSG00000181031 MIM:604881
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NOC2
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 3.5), thyroid (RPKM 2.9) and 24 other tissues See more
Orthologs
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Genomic context

See RPH3AL in Genome Data Viewer
Location:
17p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (212389..352807, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62180..202598, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene double C2 domain beta Neighboring gene long intergenic non-protein coding RNA 2091 Neighboring gene Sharpr-MPRA regulatory region 2375 Neighboring gene uncharacterized LOC105371425 Neighboring gene RPH3AL antisense RNA 1 Neighboring gene uncharacterized LOC105371430 Neighboring gene chromosome 17 open reading frame 97 Neighboring gene refilin B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study implicates PARD3B-based AIDS restriction.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables LIM domain binding IEA
Inferred from Electronic Annotation
more info
 
enables cytoskeletal protein binding TAS
Traceable Author Statement
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in response to drug IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in secretory granule membrane IEA
Inferred from Electronic Annotation
more info
 
located_in transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rab effector Noc2
Names
no C2 domains protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023031.1 RefSeqGene

    Range
    5036..145454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190411.2NP_001177340.1  rab effector Noc2 isoform 1

    See identical proteins and their annotated locations for NP_001177340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF129812, BC005153, BF507559, BP275333, BU197069, BU568991, DA378956
    Consensus CDS
    CCDS10994.1
    UniProtKB/Swiss-Prot
    Q9UNE2
    Related
    ENSP00000479485.1, ENST00000618002.4
    Conserved Domains (1) summary
    pfam02318
    Location:47159
    FYVE_2; FYVE-type zinc finger
  2. NM_001190412.2NP_001177341.1  rab effector Noc2 isoform 2

    See identical proteins and their annotated locations for NP_001177341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1, and encodes a shorter isoform (2) than isoform 1. Variants 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AK291950, BC005153, BF507559, BP275333, BU568991
    Consensus CDS
    CCDS54059.1
    UniProtKB/Swiss-Prot
    Q9UNE2
    UniProtKB/TrEMBL
    A8K7D5
    Related
    ENSP00000319210.8, ENST00000323434.12
    Conserved Domains (1) summary
    cl22851
    Location:47130
    PHD_SF; PHD finger superfamily
  3. NM_001190413.2NP_001177342.1  rab effector Noc2 isoform 2

    See identical proteins and their annotated locations for NP_001177342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' UTR and an in-frame exon in the coding region, compared to variant 1, and encodes a shorter isoform (2) than isoform 1. Variants 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AK291950, BC005153, BF507559, BP275333, BU568991, DA378956
    Consensus CDS
    CCDS54059.1
    UniProtKB/Swiss-Prot
    Q9UNE2
    UniProtKB/TrEMBL
    A8K7D5
    Related
    ENSP00000438224.2, ENST00000536489.6
    Conserved Domains (1) summary
    cl22851
    Location:47130
    PHD_SF; PHD finger superfamily
  4. NM_006987.4NP_008918.1  rab effector Noc2 isoform 1

    See identical proteins and their annotated locations for NP_008918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK000469, BC005153, BF507559, BP275333, BU568991, DA378956
    Consensus CDS
    CCDS10994.1
    UniProtKB/Swiss-Prot
    Q9UNE2
    Related
    ENSP00000328977.7, ENST00000331302.12
    Conserved Domains (1) summary
    pfam02318
    Location:47159
    FYVE_2; FYVE-type zinc finger

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    212389..352807 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315952.3 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    157431..324250 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187662.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    49831..131931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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