RPH3A (rabphilin 3A) - Rat Genome Database
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Gene: RPH3A (rabphilin 3A) Homo sapiens
Analyze
Symbol: RPH3A
Name: rabphilin 3A
RGD ID: 1347244
HGNC Page HGNC
Description: Predicted to have anion binding activity; metal ion binding activity; and selenium binding activity. Predicted to be involved in dendritic spine organization and regulation of NMDA receptor activity. Predicted to colocalize with Golgi apparatus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: exophilin-1; KIAA0985; rabphilin 3A homolog; rabphilin-3A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12112,570,380 - 112,898,881 (+)EnsemblGRCh38hg38GRCh38
GRCh3812112,575,236 - 112,898,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712113,229,343 - 113,336,686 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612111,714,125 - 111,819,631 (+)NCBINCBI36hg18NCBI36
Build 3412111,692,461 - 111,797,964NCBI
Celera12112,856,609 - 112,963,778 (+)NCBI
Cytogenetic Map12q24.13NCBI
HuRef12110,241,984 - 110,349,225 (+)NCBIHuRef
CHM1_112113,197,984 - 113,305,112 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

References

Additional References at PubMed
PMID:7707875   PMID:7802677   PMID:7822236   PMID:7999065   PMID:8060298   PMID:8636125   PMID:8889548   PMID:8901523   PMID:9244430   PMID:10025402   PMID:10099709   PMID:10231032  
PMID:11377421   PMID:12477932   PMID:12578829   PMID:12871946   PMID:12937130   PMID:15207266   PMID:15489334   PMID:16344560   PMID:17149709   PMID:17877635   PMID:17981610   PMID:18029348  
PMID:21349835   PMID:22083728   PMID:22139419   PMID:24200817   PMID:24302762   PMID:25919460   PMID:25921289   PMID:28263302   PMID:28514442   PMID:28823933   PMID:29367474   PMID:29791485  
PMID:30599141   PMID:31924649   PMID:32296183  


Genomics

Comparative Map Data
RPH3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12112,570,380 - 112,898,881 (+)EnsemblGRCh38hg38GRCh38
GRCh3812112,575,236 - 112,898,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712113,229,343 - 113,336,686 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612111,714,125 - 111,819,631 (+)NCBINCBI36hg18NCBI36
Build 3412111,692,461 - 111,797,964NCBI
Celera12112,856,609 - 112,963,778 (+)NCBI
Cytogenetic Map12q24.13NCBI
HuRef12110,241,984 - 110,349,225 (+)NCBIHuRef
CHM1_112113,197,984 - 113,305,112 (+)NCBICHM1_1
Rph3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395121,078,562 - 121,184,249 (-)NCBIGRCm39mm39
GRCm385120,940,499 - 121,010,116 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5120,940,499 - 121,010,092 (-)EnsemblGRCm38mm10GRCm38
MGSCv375121,390,508 - 121,459,527 (-)NCBIGRCm37mm9NCBIm37
MGSCv365121,201,116 - 121,270,135 (-)NCBImm8
Celera5118,026,782 - 118,095,964 (-)NCBICelera
Cytogenetic Map5FNCBI
Rph3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01241,073,296 - 41,149,799 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1241,073,824 - 41,148,490 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01242,938,832 - 43,014,142 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41236,678,613 - 36,753,316 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11236,542,000 - 36,616,704 (+)NCBI
Celera1237,205,019 - 37,281,023 (+)NCBICelera
Cytogenetic Map12q16NCBI
Rph3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554829,225,845 - 9,312,695 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554829,190,137 - 9,312,596 (+)NCBIChiLan1.0ChiLan1.0
RPH3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112113,766,871 - 113,888,805 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12113,815,437 - 113,886,701 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012110,393,495 - 110,504,099 (+)NCBIMhudiblu_PPA_v0panPan3
RPH3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2610,280,850 - 10,378,061 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12610,147,910 - 10,379,742 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rph3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366682,827,574 - 2,911,955 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPH3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1438,867,099 - 39,161,537 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11438,867,095 - 39,162,052 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21441,316,538 - 41,482,994 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPH3A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111107,818,594 - 108,155,546 (+)NCBI
ChlSab1.1 Ensembl11108,077,043 - 108,155,539 (+)Ensembl
Rph3a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474719,439,365 - 19,657,865 (-)NCBI

Position Markers
SHGC-144673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,256,370 - 113,256,678UniSTSGRCh37
Build 3612111,740,753 - 111,741,061RGDNCBI36
Celera12112,883,459 - 112,883,767RGD
Cytogenetic Map12q24.13UniSTS
HuRef12110,268,838 - 110,269,146UniSTS
TNG Radiation Hybrid Map1255195.0UniSTS
REN53801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,324,113 - 113,324,387UniSTSGRCh37
GRCh372220,527,777 - 220,528,046UniSTSGRCh37
Build 362220,236,021 - 220,236,290RGDNCBI36
Celera2214,297,731 - 214,298,000RGD
Celera12112,951,205 - 112,951,479UniSTS
Cytogenetic Map12q24.13UniSTS
HuRef12110,336,652 - 110,336,926UniSTS
HuRef2212,380,689 - 212,380,958UniSTS
RPH3A_9282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,334,886 - 113,335,410UniSTSGRCh37
Build 3612111,819,269 - 111,819,793RGDNCBI36
Celera12112,961,978 - 112,962,502RGD
HuRef12110,347,425 - 110,347,949UniSTS
A004U31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,336,568 - 113,336,674UniSTSGRCh37
Build 3612111,820,951 - 111,821,057RGDNCBI36
Celera12112,963,660 - 112,963,766RGD
Cytogenetic Map12q24.13UniSTS
HuRef12110,349,107 - 110,349,213UniSTS
GeneMap99-GB4 RH Map12443.2UniSTS
Whitehead-RH Map12557.6UniSTS
NCBI RH Map12720.1UniSTS
D12S861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,276,124 - 113,276,245UniSTSGRCh37
Build 3612111,760,507 - 111,760,628RGDNCBI36
Celera12112,903,217 - 112,903,338RGD
Cytogenetic Map12q24.13UniSTS
HuRef12110,288,665 - 110,288,786UniSTS
Stanford-G3 RH Map124776.0UniSTS
Whitehead-RH Map12557.6UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12720.1UniSTS
WI-11137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,336,452 - 113,336,641UniSTSGRCh37
Build 3612111,820,835 - 111,821,024RGDNCBI36
Celera12112,963,544 - 112,963,733RGD
Cytogenetic Map12q24.13UniSTS
HuRef12110,348,991 - 110,349,180UniSTS
GeneMap99-GB4 RH Map12443.2UniSTS
Whitehead-RH Map12557.6UniSTS
NCBI RH Map12720.1UniSTS
D12S1857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,234,857 - 113,235,055UniSTSGRCh37
Build 3612111,719,240 - 111,719,438RGDNCBI36
Celera12112,861,948 - 112,862,146RGD
Cytogenetic Map12q24.13UniSTS
HuRef12110,247,324 - 110,247,522UniSTS
TNG Radiation Hybrid Map1255185.0UniSTS
Stanford-G3 RH Map124767.0UniSTS
NCBI RH Map12720.1UniSTS
WI-10614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712113,335,945 - 113,336,219UniSTSGRCh37
Build 3612111,820,328 - 111,820,602RGDNCBI36
Celera12112,963,037 - 112,963,311RGD
Cytogenetic Map12q24.13UniSTS
HuRef12110,348,484 - 110,348,758UniSTS
Whitehead-RH Map12556.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11600
Count of miRNA genes:1222
Interacting mature miRNAs:1569
Transcripts:ENST00000389385, ENST00000415485, ENST00000420983, ENST00000447659, ENST00000543106, ENST00000546426, ENST00000546687, ENST00000546703, ENST00000547099, ENST00000547222, ENST00000547686, ENST00000547728, ENST00000547840, ENST00000548197, ENST00000548866, ENST00000549324, ENST00000549736, ENST00000549769, ENST00000549913, ENST00000550901, ENST00000551052, ENST00000551198, ENST00000551593, ENST00000551748, ENST00000552352, ENST00000552667, ENST00000552679, ENST00000552755, ENST00000553114
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 134 4 139 3 1 2008 1 1
Low 100 553 81 3 682 3 58 22 761 11 370 100 1 22 23
Below cutoff 2005 1955 1285 350 546 210 3751 1974 854 201 749 1210 141 1 1101 2446 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_145126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_145127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU738474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA332963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000389385   ⟹   ENSP00000374036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,748 - 112,898,881 (+)Ensembl
RefSeq Acc Id: ENST00000415485   ⟹   ENSP00000405357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,792,016 - 112,898,881 (+)Ensembl
RefSeq Acc Id: ENST00000543106   ⟹   ENSP00000440384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,575,097 - 112,896,914 (+)Ensembl
RefSeq Acc Id: ENST00000546426   ⟹   ENSP00000447639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,575,233 - 112,828,355 (+)Ensembl
RefSeq Acc Id: ENST00000546687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,883,359 - 112,891,188 (+)Ensembl
RefSeq Acc Id: ENST00000546703   ⟹   ENSP00000446556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,575,265 - 112,865,432 (+)Ensembl
RefSeq Acc Id: ENST00000547099   ⟹   ENSP00000448662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,792,247 - 112,866,799 (+)Ensembl
RefSeq Acc Id: ENST00000547222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,850,791 - 112,869,918 (+)Ensembl
RefSeq Acc Id: ENST00000547686   ⟹   ENSP00000449705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,575,027 - 112,865,465 (+)Ensembl
RefSeq Acc Id: ENST00000547728   ⟹   ENSP00000449613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,149 - 112,868,476 (+)Ensembl
RefSeq Acc Id: ENST00000547840   ⟹   ENSP00000450382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,591,560 - 112,866,777 (+)Ensembl
RefSeq Acc Id: ENST00000548197   ⟹   ENSP00000446570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,570,426 - 112,865,495 (+)Ensembl
RefSeq Acc Id: ENST00000548866   ⟹   ENSP00000450347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,792,188 - 112,897,177 (+)Ensembl
RefSeq Acc Id: ENST00000549324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,895,413 - 112,898,537 (+)Ensembl
RefSeq Acc Id: ENST00000549736   ⟹   ENSP00000446789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,570,380 - 112,847,731 (+)Ensembl
RefSeq Acc Id: ENST00000549769   ⟹   ENSP00000447505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,346 - 112,865,529 (+)Ensembl
RefSeq Acc Id: ENST00000549913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,868,147 - 112,898,881 (+)Ensembl
RefSeq Acc Id: ENST00000550901   ⟹   ENSP00000448100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,911 - 112,866,839 (+)Ensembl
RefSeq Acc Id: ENST00000551052   ⟹   ENSP00000448297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,937 - 112,897,453 (+)Ensembl
RefSeq Acc Id: ENST00000551198   ⟹   ENSP00000447083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,922 - 112,866,773 (+)Ensembl
RefSeq Acc Id: ENST00000551593   ⟹   ENSP00000446780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,575,143 - 112,868,530 (+)Ensembl
RefSeq Acc Id: ENST00000551748   ⟹   ENSP00000447306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,575,238 - 112,865,466 (+)Ensembl
RefSeq Acc Id: ENST00000552352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,892,868 - 112,897,295 (+)Ensembl
RefSeq Acc Id: ENST00000552667   ⟹   ENSP00000449650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,791,538 - 112,865,543 (+)Ensembl
RefSeq Acc Id: ENST00000552679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,792,130 - 112,865,587 (+)Ensembl
RefSeq Acc Id: ENST00000552755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,873,870 - 112,883,343 (+)Ensembl
RefSeq Acc Id: ENST00000553114   ⟹   ENSP00000450216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12112,792,185 - 112,866,797 (+)Ensembl
RefSeq Acc Id: NM_001143854   ⟹   NP_001137326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,898,881 (+)NCBI
GRCh3712113,229,343 - 113,336,686 (+)NCBI
HuRef12110,241,984 - 110,349,225 (+)ENTREZGENE
CHM1_112113,197,984 - 113,305,112 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347952   ⟹   NP_001334881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,575,236 - 112,898,881 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347953   ⟹   NP_001334882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,538 - 112,898,881 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347954   ⟹   NP_001334883
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,898,881 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347955   ⟹   NP_001334884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,898,881 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014954   ⟹   NP_055769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,898,881 (+)NCBI
GRCh3712113,229,343 - 113,336,686 (+)NCBI
Build 3612111,714,125 - 111,819,631 (+)NCBI Archive
HuRef12110,241,984 - 110,349,225 (+)ENTREZGENE
CHM1_112113,197,984 - 113,305,112 (+)NCBI
Sequence:
RefSeq Acc Id: NR_145126
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,898,881 (+)NCBI
Sequence:
RefSeq Acc Id: NR_145127
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,898,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019034   ⟹   XP_016874523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,873,870 - 112,898,876 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001137326   ⟸   NM_001143854
- Peptide Label: isoform 1
- UniProtKB: Q9Y2J0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055769   ⟸   NM_014954
- Peptide Label: isoform 2
- UniProtKB: Q9Y2J0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874523   ⟸   XM_017019034
- Peptide Label: isoform X1
- UniProtKB: A0A024RBK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334881   ⟸   NM_001347952
- Peptide Label: isoform 1
- UniProtKB: Q9Y2J0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001334882   ⟸   NM_001347953
- Peptide Label: isoform 1
- UniProtKB: Q9Y2J0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001334884   ⟸   NM_001347955
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001334883   ⟸   NM_001347954
- Peptide Label: isoform 1
- UniProtKB: Q9Y2J0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000440384   ⟸   ENST00000543106
RefSeq Acc Id: ENSP00000374036   ⟸   ENST00000389385
RefSeq Acc Id: ENSP00000447639   ⟸   ENST00000546426
RefSeq Acc Id: ENSP00000446556   ⟸   ENST00000546703
RefSeq Acc Id: ENSP00000405357   ⟸   ENST00000415485
RefSeq Acc Id: ENSP00000450382   ⟸   ENST00000547840
RefSeq Acc Id: ENSP00000449613   ⟸   ENST00000547728
RefSeq Acc Id: ENSP00000449705   ⟸   ENST00000547686
RefSeq Acc Id: ENSP00000448662   ⟸   ENST00000547099
RefSeq Acc Id: ENSP00000450347   ⟸   ENST00000548866
RefSeq Acc Id: ENSP00000446570   ⟸   ENST00000548197
RefSeq Acc Id: ENSP00000447505   ⟸   ENST00000549769
RefSeq Acc Id: ENSP00000446789   ⟸   ENST00000549736
RefSeq Acc Id: ENSP00000448100   ⟸   ENST00000550901
RefSeq Acc Id: ENSP00000447083   ⟸   ENST00000551198
RefSeq Acc Id: ENSP00000448297   ⟸   ENST00000551052
RefSeq Acc Id: ENSP00000446780   ⟸   ENST00000551593
RefSeq Acc Id: ENSP00000447306   ⟸   ENST00000551748
RefSeq Acc Id: ENSP00000449650   ⟸   ENST00000552667
RefSeq Acc Id: ENSP00000450216   ⟸   ENST00000553114
Protein Domains
C2   FYVE-type   RabBD

Promoters
RGD ID:7225463
Promoter ID:EPDNEW_H18477
Type:initiation region
Name:RPH3A_1
Description:rabphilin 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18478  EPDNEW_H18479  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,748 - 112,791,808EPDNEW
RGD ID:7225465
Promoter ID:EPDNEW_H18478
Type:initiation region
Name:RPH3A_3
Description:rabphilin 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18477  EPDNEW_H18479  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,791,941 - 112,792,001EPDNEW
RGD ID:7225467
Promoter ID:EPDNEW_H18479
Type:initiation region
Name:RPH3A_2
Description:rabphilin 3A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18477  EPDNEW_H18478  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812112,792,236 - 112,792,296EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001143854.1(RPH3A):c.1644C>T (p.Ile548=) single nucleotide variant Malignant melanoma [RCV000069824] Chr12:112890872 [GRCh38]
Chr12:113328677 [GRCh37]
Chr12:111813060 [NCBI36]
Chr12:12q24.13
not provided
NM_001143854.1(RPH3A):c.333C>T (p.Ala111=) single nucleotide variant Malignant melanoma [RCV000062407] Chr12:112865516 [GRCh38]
Chr12:113303321 [GRCh37]
Chr12:111787704 [NCBI36]
Chr12:12q24.13
not provided
NM_001143854.1(RPH3A):c.-19+5488G>A single nucleotide variant Lung cancer [RCV000110597] Chr12:112797751 [GRCh38]
Chr12:113235556 [GRCh37]
Chr12:12q24.13
uncertain significance
NM_001143854.1(RPH3A):c.83+3781G>T single nucleotide variant Lung cancer [RCV000110598] Chr12:112840283 [GRCh38]
Chr12:113278088 [GRCh37]
Chr12:12q24.13
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_001143854.2(RPH3A):c.1349C>G (p.Thr450Ser) single nucleotide variant not specified [RCV000209913] Chr12:112883315 [GRCh38]
Chr12:113321120 [GRCh37]
Chr12:12q24.13
uncertain significance
GRCh38/hg38 12q24.13(chr12:112307532-112722967)x3 copy number gain See cases [RCV000053687] Chr12:112307532..112722967 [GRCh38]
Chr12:112745336..113160772 [GRCh37]
Chr12:111229719..111645155 [NCBI36]
Chr12:12q24.13
pathogenic
GRCh38/hg38 12q24.13(chr12:112303430-112676526)x3 copy number gain See cases [RCV000053686] Chr12:112303430..112676526 [GRCh38]
Chr12:112741234..113114331 [GRCh37]
Chr12:111225617..111598714 [NCBI36]
Chr12:12q24.13
pathogenic
GRCh37/hg19 12q24.13-24.21(chr12:112963559-116095198)x1 copy number loss See cases [RCV000446400] Chr12:112963559..116095198 [GRCh37]
Chr12:12q24.13-24.21
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001143854.2(RPH3A):c.696C>T (p.Pro232=) single nucleotide variant not provided [RCV000917788] Chr12:112869939 [GRCh38]
Chr12:113307744 [GRCh37]
Chr12:12q24.13
benign
NM_001143854.2(RPH3A):c.608G>A (p.Arg203Gln) single nucleotide variant not provided [RCV000969275] Chr12:112868593 [GRCh38]
Chr12:113306398 [GRCh37]
Chr12:12q24.13
benign
NM_001143854.2(RPH3A):c.763G>C (p.Gly255Arg) single nucleotide variant not provided [RCV000986161] Chr12:112870006 [GRCh38]
Chr12:113307811 [GRCh37]
Chr12:12q24.13
pathogenic
NM_001143854.2(RPH3A):c.229G>A (p.Gly77Arg) single nucleotide variant not specified [RCV001193517] Chr12:112847841 [GRCh38]
Chr12:113285646 [GRCh37]
Chr12:12q24.13
uncertain significance
NM_001143854.2(RPH3A):c.978C>G (p.Ala326=) single nucleotide variant not provided [RCV000962969] Chr12:112876673 [GRCh38]
Chr12:113314478 [GRCh37]
Chr12:12q24.13
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17056 AgrOrtholog
COSMIC RPH3A COSMIC
Ensembl Genes ENSG00000089169 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000374036 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000440384 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000446556 UniProtKB/TrEMBL
  ENSP00000446570 UniProtKB/TrEMBL
  ENSP00000446780 UniProtKB/TrEMBL
  ENSP00000446789 UniProtKB/TrEMBL
  ENSP00000447083 UniProtKB/TrEMBL
  ENSP00000447306 UniProtKB/TrEMBL
  ENSP00000447505 UniProtKB/TrEMBL
  ENSP00000447639 UniProtKB/TrEMBL
  ENSP00000448100 UniProtKB/TrEMBL
  ENSP00000448297 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000448662 UniProtKB/TrEMBL
  ENSP00000449613 UniProtKB/TrEMBL
  ENSP00000449650 UniProtKB/TrEMBL
  ENSP00000449705 UniProtKB/TrEMBL
  ENSP00000450216 UniProtKB/TrEMBL
  ENSP00000450347 UniProtKB/TrEMBL
  ENSP00000450382 UniProtKB/TrEMBL
Ensembl Transcript ENST00000389385 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543106 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546426 UniProtKB/TrEMBL
  ENST00000546703 UniProtKB/TrEMBL
  ENST00000547099 UniProtKB/TrEMBL
  ENST00000547686 UniProtKB/TrEMBL
  ENST00000547728 UniProtKB/TrEMBL
  ENST00000547840 UniProtKB/TrEMBL
  ENST00000548197 UniProtKB/TrEMBL
  ENST00000548866 UniProtKB/TrEMBL
  ENST00000549736 UniProtKB/TrEMBL
  ENST00000549769 UniProtKB/TrEMBL
  ENST00000550901 UniProtKB/TrEMBL
  ENST00000551052 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000551198 UniProtKB/TrEMBL
  ENST00000551593 UniProtKB/TrEMBL
  ENST00000551748 UniProtKB/TrEMBL
  ENST00000552667 UniProtKB/TrEMBL
  ENST00000553114 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000089169 GTEx
HGNC ID HGNC:17056 ENTREZGENE
Human Proteome Map RPH3A Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FYVE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab_BD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rabphilin/DOC2/Noc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RPH3A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptotagmin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22895 UniProtKB/Swiss-Prot
NCBI Gene 22895 ENTREZGENE
OMIM 612159 OMIM
PANTHER PTHR45729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45729:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FYVE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134886118 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOTAGMN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBK6 ENTREZGENE, UniProtKB/TrEMBL
  F8VNP7_HUMAN UniProtKB/TrEMBL
  F8VNU2_HUMAN UniProtKB/TrEMBL
  F8VNW3_HUMAN UniProtKB/TrEMBL
  F8VP47_HUMAN UniProtKB/TrEMBL
  F8VR41_HUMAN UniProtKB/TrEMBL
  F8VRJ1_HUMAN UniProtKB/TrEMBL
  F8VTR7_HUMAN UniProtKB/TrEMBL
  F8VV58_HUMAN UniProtKB/TrEMBL
  F8VVK8_HUMAN UniProtKB/TrEMBL
  F8VZS2_HUMAN UniProtKB/TrEMBL
  F8W045_HUMAN UniProtKB/TrEMBL
  F8W116_HUMAN UniProtKB/TrEMBL
  F8W131_HUMAN UniProtKB/TrEMBL
  F8W1A3_HUMAN UniProtKB/TrEMBL
  F8W1K7_HUMAN UniProtKB/TrEMBL
  Q6PJY8_HUMAN UniProtKB/TrEMBL
  Q6PKD5_HUMAN UniProtKB/TrEMBL
  Q9Y2J0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z3C3 UniProtKB/Swiss-Prot
  Q96AE0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-08 RPH3A  rabphilin 3A    rabphilin 3A homolog (mouse)  Symbol and/or name change 5135510 APPROVED
2011-08-17 RPH3A  rabphilin 3A homolog (mouse)  RPH3A  rabphilin 3A homolog (mouse)  Symbol and/or name change 5135510 APPROVED