APOBEC1 (apolipoprotein B mRNA editing enzyme catalytic subunit 1) - Rat Genome Database

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Gene: APOBEC1 (apolipoprotein B mRNA editing enzyme catalytic subunit 1) Homo sapiens
Analyze
Symbol: APOBEC1
Name: apolipoprotein B mRNA editing enzyme catalytic subunit 1
RGD ID: 736126
HGNC Page HGNC:604
Description: Predicted to enable RNA binding activity and cytidine deaminase activity. Involved in mRNA modification and negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APOBEC-1; apolipoprotein B mRNA editing enzyme catalytic polypeptide 1; apolipoprotein B mRNA editing enzyme complex-1; apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1; apolipoprotein B mRNA-editing enzyme 1; BEDP; C->U-editing enzyme APOBEC-1; CDAR1; HEPR; mRNA(cytosine(6666)) deaminase 1
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
GRCh38127,649,400 - 7,670,599 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl127,649,400 - 7,665,908 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,801,996 - 7,823,195 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,693,263 - 7,709,769 (-)NCBINCBI36Build 36hg18NCBI36
Build 34127,693,263 - 7,709,765NCBI
Celera129,377,416 - 9,393,928 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef127,615,551 - 7,632,073 (-)NCBIHuRef
CHM1_1127,801,108 - 7,817,585 (-)NCBICHM1_1
T2T-CHM13v2.0127,663,658 - 7,684,886 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA,ISO)
mRNA editing complex  (IC)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Apobec-1 transcription in rat colon cancer: decreased apobec-1 protein production through alterations in polysome distribution and mRNA translation associated with upstream AUGs. Anant S, etal., Biochim Biophys Acta 2002 May 3;1575(1-3):54-62.
2. SINGLE NUCLEOTIDE POLYMORPHISMS THAT INFLUENCE LIPID METABOLISM: Interaction with Dietary Factors. Corella D and Ordovas JM, Annu Rev Nutr. 2005;25:341-90.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Regulation of hepatic apolipoprotein B RNA editing in the genetically obese Zucker rat. Phung TL, etal., Metabolism. 1996 Sep;45(9):1056-8.
5. Low expression of the apolipoprotein B mRNA-editing transgene in mice reduces LDL levels but does not cause liver dysplasia or tumors. Qian X, etal., Arterioscler Thromb Vasc Biol. 1998 Jun;18(6):1013-20.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Effects of a thyromimetic on apolipoprotein B-100 in rats. Wada Y, etal., J Mol Endocrinol. 2000 Dec;25(3):299-308.
Additional References at PubMed
PMID:7698776   PMID:7736571   PMID:8078915   PMID:8208612   PMID:8692961   PMID:8999813   PMID:8999814   PMID:9186903   PMID:9479499   PMID:10669759   PMID:10781591   PMID:11134005  
PMID:11352648   PMID:11577082   PMID:11584023   PMID:11698249   PMID:11727199   PMID:11815617   PMID:12477932   PMID:12683974   PMID:12881431   PMID:12896982   PMID:14559896   PMID:15516966  
PMID:15659357   PMID:15979078   PMID:16999936   PMID:17696929   PMID:18051367   PMID:18509452   PMID:18971252   PMID:19911124   PMID:19913121   PMID:19932086   PMID:19965785   PMID:20331378  
PMID:20348446   PMID:20628086   PMID:21496894   PMID:21873635   PMID:22580899   PMID:25085003   PMID:25100733   PMID:25839328   PMID:26398702   PMID:28639893   PMID:29346513   PMID:29987050  
PMID:32296183   PMID:33330905   PMID:33602235  


Genomics

Comparative Map Data
APOBEC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38127,649,400 - 7,670,599 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl127,649,400 - 7,665,908 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,801,996 - 7,823,195 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,693,263 - 7,709,769 (-)NCBINCBI36Build 36hg18NCBI36
Build 34127,693,263 - 7,709,765NCBI
Celera129,377,416 - 9,393,928 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef127,615,551 - 7,632,073 (-)NCBIHuRef
CHM1_1127,801,108 - 7,817,585 (-)NCBICHM1_1
T2T-CHM13v2.0127,663,658 - 7,684,886 (-)NCBIT2T-CHM13v2.0
Apobec1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396122,554,751 - 122,579,995 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6122,554,751 - 122,579,403 (-)EnsemblGRCm39 Ensembl
GRCm386122,577,792 - 122,603,024 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6122,577,792 - 122,602,444 (-)EnsemblGRCm38mm10GRCm38
MGSCv376122,527,810 - 122,552,462 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366122,543,411 - 122,568,063 (-)NCBIMGSCv36mm8
Celera6124,372,038 - 124,397,549 (-)NCBICelera
Cytogenetic Map6F1NCBI
cM Map657.68NCBI
Apobec1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24155,800,030 - 155,828,515 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4155,800,887 - 155,827,390 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4162,064,076 - 162,078,798 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.04157,847,296 - 157,862,008 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.04156,493,855 - 156,508,527 (-)NCBIRnor_WKY
Rnor_6.04155,386,367 - 155,414,034 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4155,386,711 - 155,401,480 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04222,409,798 - 222,438,051 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44159,033,170 - 159,048,108 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14159,278,107 - 159,293,044 (-)NCBI
Celera4144,620,263 - 144,634,783 (-)NCBICelera
Cytogenetic Map4q42NCBI
Apobec1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554136,471,953 - 6,480,469 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554136,471,933 - 6,480,475 (-)NCBIChiLan1.0ChiLan1.0
APOBEC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1127,939,115 - 7,950,315 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,939,262 - 7,944,203 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0127,777,734 - 7,793,960 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
APOBEC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12737,102,728 - 37,114,084 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2737,103,016 - 37,114,556 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha279,502,214 - 9,513,600 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02737,452,077 - 37,463,466 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2737,452,249 - 37,463,777 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12737,333,157 - 37,344,537 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02737,368,031 - 37,379,426 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0278,988,480 - 8,999,873 (+)NCBIUU_Cfam_GSD_1.0
Apobec1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494598,775,264 - 98,783,978 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004939393628 - 6,234 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOBEC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl562,810,879 - 62,820,173 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1562,811,819 - 62,820,532 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2565,642,017 - 65,650,615 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APOBEC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1117,696,571 - 7,700,424 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl117,696,259 - 7,700,643 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666063490,767 - 508,119 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apobec1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248604,938,001 - 4,957,236 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248604,938,001 - 4,957,640 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:307
Count of miRNA genes:237
Interacting mature miRNAs:244
Transcripts:ENST00000229304, ENST00000467171
Prediction methods:Miranda, Rnahybrid
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 adipose tissue appendage
High
Medium 189 103 1 2 9
Low 446 1 22 12 76 13 3 4 12 4 56 30 1 3
Below cutoff 493 306 290 72 171 59 487 215 398 34 431 210 17 210 294

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB009426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI380263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI862416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000229304   ⟹   ENSP00000229304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,649,400 - 7,665,908 (-)Ensembl
RefSeq Acc Id: ENST00000467171   ⟹   ENSP00000436415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,649,400 - 7,665,903 (-)Ensembl
RefSeq Acc Id: NM_001304566   ⟹   NP_001291495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,649,400 - 7,670,599 (-)NCBI
CHM1_1127,801,108 - 7,817,561 (-)NCBI
T2T-CHM13v2.0127,663,658 - 7,684,886 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001644   ⟹   NP_001635
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,649,400 - 7,665,908 (-)NCBI
GRCh37127,801,996 - 7,823,195 (-)NCBI
Build 36127,693,263 - 7,709,769 (-)NCBI Archive
HuRef127,615,551 - 7,632,073 (-)ENTREZGENE
CHM1_1127,801,108 - 7,817,582 (-)NCBI
T2T-CHM13v2.0127,663,658 - 7,680,194 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005889   ⟹   NP_005880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,649,400 - 7,665,908 (-)NCBI
CHM1_1127,801,108 - 7,817,582 (-)NCBI
T2T-CHM13v2.0127,663,658 - 7,680,194 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001635   ⟸   NM_001644
- Peptide Label: isoform a
- UniProtKB: Q9UM71 (UniProtKB/Swiss-Prot),   P41238 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005880   ⟸   NM_005889
- Peptide Label: isoform b
- UniProtKB: P41238 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291495   ⟸   NM_001304566
- Peptide Label: isoform a
- UniProtKB: Q9UM71 (UniProtKB/Swiss-Prot),   P41238 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000229304   ⟸   ENST00000229304
RefSeq Acc Id: ENSP00000436415   ⟸   ENST00000467171
Protein Domains
CMP/dCMP-type deaminase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P41238-F1-model_v2 AlphaFold P41238 1-236 view protein structure

Promoters
RGD ID:7223031
Promoter ID:EPDNEW_H17261
Type:initiation region
Name:APOBEC1_1
Description:apolipoprotein B mRNA editing enzyme catalytic subunit 1
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
GRCh38127,665,880 - 7,665,940EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31
pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_001644.4(APOBEC1):c.55G>A (p.Glu19Lys) single nucleotide variant Malignant melanoma [RCV000070220] Chr12:7652825 [GRCh38]
Chr12:7805421 [GRCh37]
Chr12:7696688 [NCBI36]
Chr12:12p13.31
not provided
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
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
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
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
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.31(chr12:7770670-8646662)x3 copy number gain See cases [RCV000448032] Chr12:7770670..8646662 [GRCh37]
Chr12:12p13.31
likely benign
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 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely 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 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
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
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.31(chr12:7815254-8013345)x1 copy number loss not provided [RCV000846280] Chr12:7815254..8013345 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3 copy number gain not provided [RCV001259128] Chr12:7755907..8436318 [GRCh37]
Chr12:12p13.31
likely benign
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001913768]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:604 AgrOrtholog
COSMIC APOBEC1 COSMIC
Ensembl Genes ENSG00000111701 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000229304 ENTREZGENE
  ENSP00000229304.4 UniProtKB/Swiss-Prot
  ENSP00000436415.2 UniProtKB/TrEMBL
Ensembl Transcript ENST00000229304 ENTREZGENE
  ENST00000229304.5 UniProtKB/Swiss-Prot
  ENST00000467171.2 UniProtKB/TrEMBL
GTEx ENSG00000111701 GTEx
HGNC ID HGNC:604 ENTREZGENE
Human Proteome Map APOBEC1 Human Proteome Map
InterPro APOBEC/CMP_deaminase_Zn-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APOBEC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CMP_dCMP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytidine_deaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:339 UniProtKB/Swiss-Prot
NCBI Gene 339 ENTREZGENE
OMIM 600130 OMIM
Pfam APOBEC4_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24889 PharmGKB
PROSITE CYT_DCMP_DEAMINASES_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYT_DCMP_DEAMINASES_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53927 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J232_HUMAN UniProtKB/TrEMBL
  ABEC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4VB33_HUMAN UniProtKB/TrEMBL
  Q9UM71 ENTREZGENE
UniProt Secondary Q9UE64 UniProtKB/Swiss-Prot
  Q9UM71 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 APOBEC1  apolipoprotein B mRNA editing enzyme catalytic subunit 1    apolipoprotein B mRNA editing enzyme catalytic polypeptide 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 APOBEC1  apolipoprotein B mRNA editing enzyme catalytic polypeptide 1    apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 APOBEC1  apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1  APOBEC1  apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1  Symbol and/or name change 5135510 APPROVED