AP1AR (adaptor related protein complex 1 associated regulatory protein) - Rat Genome Database

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Gene: AP1AR (adaptor related protein complex 1 associated regulatory protein) Homo sapiens
Analyze
Symbol: AP1AR
Name: adaptor related protein complex 1 associated regulatory protein
RGD ID: 1347570
HGNC Page HGNC
Description: Enables AP-1 adaptor complex binding activity and kinesin binding activity. Involved in negative regulation of receptor recycling and vesicle targeting, trans-Golgi to endosome. Acts upstream of or within negative regulation of substrate adhesion-dependent cell spreading. Located in Golgi apparatus and transport vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2C18; adapter-related protein complex 1-associated regulatory protein; AP-1 complex-associated regulatory protein; C4orf16; gadkin; gamma-1-adaptin brefeldin A resistance protein; gamma-A1-adaptin and kinesin interactor; gamma-BAR; gamma1-adaptin brefeldin A resistance protein, gamma-BAR; GBAR; PRO0971
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
GRCh384112,231,787 - 112,273,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4112,231,740 - 112,273,110 (+)EnsemblGRCh38hg38GRCh38
GRCh374113,152,943 - 113,194,266 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364113,372,430 - 113,410,655 (+)NCBINCBI36hg18NCBI36
Build 344113,510,584 - 113,548,807NCBI
Celera4110,446,973 - 110,485,290 (+)NCBI
Cytogenetic Map4q25NCBI
HuRef4108,884,439 - 108,922,756 (+)NCBIHuRef
CHM1_14113,129,708 - 113,168,024 (+)NCBICHM1_1
T2T-CHM13v2.04115,540,139 - 115,581,470 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
aniridia  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:11076863   PMID:11230166   PMID:11256614   PMID:15144186   PMID:15146197   PMID:15489334   PMID:15489336   PMID:15775984   PMID:15815621   PMID:16341674   PMID:16344560  
PMID:16381901   PMID:18029348   PMID:19322201   PMID:19706427   PMID:19965873   PMID:20332099   PMID:21525240   PMID:21873635   PMID:22689987   PMID:26496610   PMID:27432908   PMID:28514442  
PMID:29568061   PMID:30021884   PMID:30639242   PMID:31732153   PMID:32296183   PMID:32513696   PMID:33961781   PMID:34079125   PMID:35271311  


Genomics

Comparative Map Data
AP1AR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384112,231,787 - 112,273,110 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4112,231,740 - 112,273,110 (+)EnsemblGRCh38hg38GRCh38
GRCh374113,152,943 - 113,194,266 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364113,372,430 - 113,410,655 (+)NCBINCBI36hg18NCBI36
Build 344113,510,584 - 113,548,807NCBI
Celera4110,446,973 - 110,485,290 (+)NCBI
Cytogenetic Map4q25NCBI
HuRef4108,884,439 - 108,922,756 (+)NCBIHuRef
CHM1_14113,129,708 - 113,168,024 (+)NCBICHM1_1
T2T-CHM13v2.04115,540,139 - 115,581,470 (+)NCBI
Ap1ar
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393127,600,656 - 127,631,172 (-)NCBIGRCm39mm39
GRCm39 Ensembl3127,600,656 - 127,631,172 (-)Ensembl
GRCm383127,807,007 - 127,837,523 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3127,807,007 - 127,837,523 (-)EnsemblGRCm38mm10GRCm38
MGSCv373127,510,182 - 127,540,410 (-)NCBIGRCm37mm9NCBIm37
MGSCv363127,799,286 - 127,800,886 (-)NCBImm8
Celera3134,309,497 - 134,339,336 (-)NCBICelera
Cytogenetic Map3G2NCBI
Ap1ar
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22216,276,631 - 216,309,020 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2216,276,631 - 216,309,013 (-)Ensembl
Rnor_6.02232,146,418 - 232,178,813 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2232,147,690 - 232,178,671 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02251,491,339 - 251,523,675 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42225,085,891 - 225,117,932 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12225,072,570 - 225,170,786 (-)NCBI
Celera2208,587,940 - 208,619,983 (-)NCBICelera
Cytogenetic Map2q42NCBI
Ap1ar
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545714,457,990 - 14,491,435 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545714,456,414 - 14,471,584 (-)NCBIChiLan1.0ChiLan1.0
AP1AR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14115,282,638 - 115,325,525 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4115,282,727 - 115,322,872 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04104,720,583 - 104,762,097 (+)NCBIMhudiblu_PPA_v0panPan3
AP1AR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13232,083,077 - 32,123,857 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3232,083,105 - 32,122,200 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha329,909,249 - 9,952,014 (-)NCBI
ROS_Cfam_1.03232,304,857 - 32,347,579 (+)NCBI
ROS_Cfam_1.0 Ensembl3232,304,823 - 32,347,561 (+)Ensembl
UMICH_Zoey_3.13232,288,021 - 32,330,678 (+)NCBI
UNSW_CanFamBas_1.03232,048,897 - 32,091,580 (+)NCBI
UU_Cfam_GSD_1.0327,769,793 - 7,812,842 (-)NCBI
Ap1ar
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053018,764,417 - 8,801,142 (-)NCBI
SpeTri2.0NW_0049365633,108,242 - 3,144,957 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM241A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8110,386,776 - 110,505,320 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18110,468,450 - 110,504,828 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28118,506,917 - 118,510,666 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AP1AR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1760,029,576 - 60,069,199 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl760,052,140 - 60,071,815 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603738,790,233 - 38,832,900 (+)NCBIVero_WHO_p1.0
Ap1ar
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248386,129,771 - 6,157,962 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248386,129,073 - 6,157,971 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-86173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,153,973 - 113,154,244UniSTSGRCh37
Build 364113,373,422 - 113,373,693RGDNCBI36
Celera4110,448,051 - 110,448,322RGD
Cytogenetic Map4q25UniSTS
HuRef4108,885,517 - 108,885,788UniSTS
TNG Radiation Hybrid Map470637.0UniSTS
RH122162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374113,157,169 - 113,157,486UniSTSGRCh37
Build 364113,376,618 - 113,376,935RGDNCBI36
Celera4110,451,248 - 110,451,565RGD
Cytogenetic Map4q25UniSTS
HuRef4108,888,714 - 108,889,031UniSTS
TNG Radiation Hybrid Map470473.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1351
Count of miRNA genes:607
Interacting mature miRNAs:681
Transcripts:ENST00000274000, ENST00000309703, ENST00000502954, ENST00000506522, ENST00000510527, ENST00000512741
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 pharyngeal arch
High
Medium 1629 1320 1216 376 1092 243 3419 567 2447 330 1314 1481 146 1059 1948 3
Low 810 1561 510 248 754 222 937 1625 1287 88 146 132 29 1 145 840 3 2
Below cutoff 109 104 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001128426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI246762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI273122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI798931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM823928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM974015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX498932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN291547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA463845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274000   ⟹   ENSP00000274000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4112,231,787 - 112,273,110 (+)Ensembl
RefSeq Acc Id: ENST00000309703   ⟹   ENSP00000309023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4112,231,833 - 112,269,677 (+)Ensembl
RefSeq Acc Id: ENST00000502954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4112,231,825 - 112,254,894 (+)Ensembl
RefSeq Acc Id: ENST00000506522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4112,231,889 - 112,253,311 (+)Ensembl
RefSeq Acc Id: ENST00000510527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4112,231,740 - 112,265,319 (+)Ensembl
RefSeq Acc Id: ENST00000512741   ⟹   ENSP00000422529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4112,265,052 - 112,266,830 (+)Ensembl
RefSeq Acc Id: NM_001128426   ⟹   NP_001121898
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,231,787 - 112,273,110 (+)NCBI
GRCh374113,152,893 - 113,191,211 (+)NCBI
Celera4110,446,973 - 110,485,290 (+)RGD
HuRef4108,884,439 - 108,922,756 (+)RGD
CHM1_14113,129,708 - 113,171,079 (+)NCBI
T2T-CHM13v2.04115,540,139 - 115,581,470 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018569   ⟹   NP_061039
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,231,787 - 112,273,110 (+)NCBI
GRCh374113,152,893 - 113,191,211 (+)NCBI
Build 364113,372,430 - 113,410,655 (+)NCBI Archive
Celera4110,446,973 - 110,485,290 (+)RGD
HuRef4108,884,439 - 108,922,756 (+)RGD
CHM1_14113,129,708 - 113,171,079 (+)NCBI
T2T-CHM13v2.04115,540,139 - 115,581,470 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136622
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,231,787 - 112,273,110 (+)NCBI
CHM1_14113,129,708 - 113,171,079 (+)NCBI
T2T-CHM13v2.04115,540,139 - 115,581,470 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008380   ⟹   XP_016863869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,232,276 - 112,273,110 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415927   ⟹   XP_047271883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,253,217 - 112,273,110 (+)NCBI
RefSeq Acc Id: XM_047415928   ⟹   XP_047271884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,253,212 - 112,273,110 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_061039   ⟸   NM_018569
- Peptide Label: isoform 1
- UniProtKB: Q63HQ0 (UniProtKB/Swiss-Prot),   A0A024RDK6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121898   ⟸   NM_001128426
- Peptide Label: isoform 2
- UniProtKB: Q63HQ0 (UniProtKB/Swiss-Prot),   A0A024RDI1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863869   ⟸   XM_017008380
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000309023   ⟸   ENST00000309703
RefSeq Acc Id: ENSP00000274000   ⟸   ENST00000274000
RefSeq Acc Id: ENSP00000422529   ⟸   ENST00000512741
RefSeq Acc Id: XP_047271884   ⟸   XM_047415928
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047271883   ⟸   XM_047415927
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q63HQ0-F1-model_v2 AlphaFold Q63HQ0 1-302 view protein structure

Promoters
RGD ID:6868288
Promoter ID:EPDNEW_H7309
Type:initiation region
Name:AP1AR_1
Description:adaptor related protein complex 1 associated regulatory protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384112,231,787 - 112,231,847EPDNEW
RGD ID:6802064
Promoter ID:HG_KWN:48927
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001128426,   OTTHUMT00000256323,   UC010IMM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364113,371,991 - 113,372,842 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1 copy number loss See cases [RCV000134955] Chr4:111069785..116691879 [GRCh38]
Chr4:111990941..117613035 [GRCh37]
Chr4:112210390..117832483 [NCBI36]
Chr4:4q25-26		 likely pathogenic
NC_000004.10:g.111994000_115504000del3510001 deletion Congenital aniridia [RCV000257787] Chr4:110853395..114363395 [GRCh38]
Chr4:111774551..115284551 [GRCh37]
Chr4:111994000..115504000 [NCBI36]
Chr4:4q25-26		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-26(chr4:112857598-115434654)x1 copy number loss See cases [RCV000448547] Chr4:112857598..115434654 [GRCh37]
Chr4:4q25-26		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25(chr4:112901280-113403129)x1 copy number loss not provided [RCV000682445] Chr4:112901280..113403129 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q25(chr4:113175966-113835185)x1 copy number loss not provided [RCV000743921] Chr4:113175966..113835185 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_018569.6(AP1AR):c.852A>G (p.Val284=) single nucleotide variant not provided [RCV000946808] Chr4:112268352 [GRCh38]
Chr4:113189508 [GRCh37]
Chr4:4q25		 benign
GRCh37/hg19 4q25(chr4:113116277-113602286)x3 copy number gain not provided [RCV000847514] Chr4:113116277..113602286 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q25(chr4:111334313-113223858)x1 copy number loss not provided [RCV001259302] Chr4:111334313..113223858 [GRCh37]
Chr4:4q25		 pathogenic
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q25-26(chr4:112849108-115434557) copy number loss not specified [RCV002053449] Chr4:112849108..115434557 [GRCh37]
Chr4:4q25-26		 likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28808 AgrOrtholog
COSMIC AP1AR COSMIC
Ensembl Genes ENSG00000138660 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000274000 ENTREZGENE
  ENSP00000274000.5 UniProtKB/Swiss-Prot
  ENSP00000309023 ENTREZGENE
  ENSP00000309023.6 UniProtKB/Swiss-Prot
  ENSP00000422529.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000274000 ENTREZGENE
  ENST00000274000.10 UniProtKB/Swiss-Prot
  ENST00000309703 ENTREZGENE
  ENST00000309703.10 UniProtKB/Swiss-Prot
  ENST00000512741.1 UniProtKB/TrEMBL
GTEx ENSG00000138660 GTEx
HGNC ID HGNC:28808 ENTREZGENE
Human Proteome Map AP1AR Human Proteome Map
InterPro AP1AR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55435 UniProtKB/Swiss-Prot
NCBI Gene 55435 ENTREZGENE
OMIM 610851 OMIM
PANTHER PTHR34529 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AP1AR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165663153 PharmGKB
UniProt A0A024RDI1 ENTREZGENE, UniProtKB/TrEMBL
  A0A024RDK6 ENTREZGENE
  AP1AR_HUMAN UniProtKB/Swiss-Prot
  H0Y8Y4_HUMAN UniProtKB/TrEMBL
  Q63HQ0 ENTREZGENE
UniProt Secondary B2RCV7 UniProtKB/Swiss-Prot
  Q96GG6 UniProtKB/Swiss-Prot
  Q9H0V0 UniProtKB/Swiss-Prot
  Q9P1L4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 AP1AR  adaptor related protein complex 1 associated regulatory protein    adaptor-related protein complex 1 associated regulatory protein  Symbol and/or name change 5135510 APPROVED
2011-07-27 AP1AR  adaptor-related protein complex 1 associated regulatory protein  C4orf16  chromosome 4 open reading frame 16  Symbol and/or name change 5135510 APPROVED