ANKHD1-EIF4EBP3 (ANKHD1-EIF4EBP3 readthrough) - Rat Genome Database

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Gene: ANKHD1-EIF4EBP3 (ANKHD1-EIF4EBP3 readthrough) Homo sapiens
Analyze
No known orthologs.
Symbol: ANKHD1-EIF4EBP3
Name: ANKHD1-EIF4EBP3 readthrough
RGD ID: 1602794
HGNC Page HGNC:33530
Description: Enables RNA binding activity. Predicted to be involved in innate immune response. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MASK-4E-BP3 alternate reading frame; MASK-BP3; MASK-BP3arf
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385140,401,833 - 140,549,576 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5140,401,908 - 140,549,569 (+)EnsemblGRCh38hg38GRCh38
GRCh375139,781,418 - 139,929,161 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365139,761,613 - 139,909,347 (+)NCBINCBI36Build 36hg18NCBI36
Celera5135,858,059 - 136,005,914 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5134,926,568 - 135,074,502 (+)NCBIHuRef
CHM1_15139,214,501 - 139,362,411 (+)NCBICHM1_1
T2T-CHM13v2.05140,927,267 - 141,075,006 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10470851   PMID:12477932   PMID:14557257   PMID:14743216   PMID:16297570   PMID:16344560   PMID:18029348   PMID:20936779   PMID:20967262   PMID:22658674   PMID:26186194   PMID:26638075  
PMID:28514442   PMID:28611215   PMID:28718761   PMID:29117863   PMID:29395067   PMID:29507755   PMID:30209976   PMID:30737378   PMID:31617661   PMID:32908313   PMID:33961781   PMID:34079125  
PMID:35140242   PMID:35748872   PMID:35819319   PMID:36779422  


Genomics

Variants

.
Variants in ANKHD1-EIF4EBP3
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_017747.2(ANKHD1):c.3264T>C (p.Gly1088=) single nucleotide variant Malignant melanoma [RCV000066663] Chr5:140505725 [GRCh38]
Chr5:139885310 [GRCh37]
Chr5:139865494 [NCBI36]
Chr5:5q31.3
not provided
NM_017747.2(ANKHD1):c.3421C>G (p.Leu1141Val) single nucleotide variant Malignant melanoma [RCV000066664] Chr5:140506847 [GRCh38]
Chr5:139886432 [GRCh37]
Chr5:139866616 [NCBI36]
Chr5:5q31.3
not provided
NM_017747.2(ANKHD1):c.3422T>C (p.Leu1141Pro) single nucleotide variant Malignant melanoma [RCV000066665] Chr5:140506848 [GRCh38]
Chr5:139886433 [GRCh37]
Chr5:139866617 [NCBI36]
Chr5:5q31.3
not provided
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3 copy number gain not provided [RCV000846756] Chr5:139447779..140047037 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_017747.3(ANKHD1):c.7156C>G (p.Pro2386Ala) single nucleotide variant not provided [RCV000955345] Chr5:140537517 [GRCh38]
Chr5:139917102 [GRCh37]
Chr5:5q31.3
benign
NM_017747.3(ANKHD1):c.7591C>T (p.Pro2531Ser) single nucleotide variant Inborn genetic diseases [RCV003276437] Chr5:140539380 [GRCh38]
Chr5:139918965 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_017747.3(ANKHD1):c.3551+277A>G single nucleotide variant not provided [RCV001616527] Chr5:140507254 [GRCh38]
Chr5:139886839 [GRCh37]
Chr5:5q31.3
benign
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 copy number loss PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] Chr5:139493717..140517454 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_017747.3(ANKHD1):c.6791A>G (p.Asp2264Gly) single nucleotide variant Inborn genetic diseases [RCV002906391] Chr5:140529737 [GRCh38]
Chr5:139909322 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_017747.3(ANKHD1):c.4663C>T (p.Pro1555Ser) single nucleotide variant Inborn genetic diseases [RCV002683615] Chr5:140526166 [GRCh38]
Chr5:139905751 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.251A>T (p.Gln84Leu) single nucleotide variant Inborn genetic diseases [RCV002946590] Chr5:140549053 [GRCh38]
Chr5:139928638 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.125G>A (p.Arg42Gln) single nucleotide variant Inborn genetic diseases [RCV002732204] Chr5:140548927 [GRCh38]
Chr5:139928512 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.195C>T (p.Pro65=) single nucleotide variant Inborn genetic diseases [RCV002683352] Chr5:140548997 [GRCh38]
Chr5:139928582 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_020690.6(ANKHD1-EIF4EBP3):c.7583C>T (p.Pro2528Leu) single nucleotide variant Inborn genetic diseases [RCV002684702] Chr5:140542185 [GRCh38]
Chr5:139921770 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.64A>C (p.Thr22Pro) single nucleotide variant Inborn genetic diseases [RCV002704080] Chr5:140547801 [GRCh38]
Chr5:139927386 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_020690.6(ANKHD1-EIF4EBP3):c.7618C>G (p.Pro2540Ala) single nucleotide variant Inborn genetic diseases [RCV002956129] Chr5:140542220 [GRCh38]
Chr5:139921805 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_020690.6(ANKHD1-EIF4EBP3):c.7651C>T (p.Arg2551Trp) single nucleotide variant Inborn genetic diseases [RCV002672969] Chr5:140542253 [GRCh38]
Chr5:139921838 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_017747.3(ANKHD1):c.518G>A (p.Arg173Gln) single nucleotide variant Inborn genetic diseases [RCV002989639] Chr5:140438518 [GRCh38]
Chr5:139818103 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.197G>A (p.Gly66Glu) single nucleotide variant Inborn genetic diseases [RCV002723940] Chr5:140548999 [GRCh38]
Chr5:139928584 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.255G>A (p.Glu85=) single nucleotide variant Inborn genetic diseases [RCV003295786] Chr5:140549057 [GRCh38]
Chr5:139928642 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_003732.3(EIF4EBP3):c.224T>C (p.Leu75Pro) single nucleotide variant Inborn genetic diseases [RCV003211747] Chr5:140549026 [GRCh38]
Chr5:139928611 [GRCh37]
Chr5:5q31.3
likely benign
NM_003732.3(EIF4EBP3):c.126A>C (p.Arg42=) single nucleotide variant Inborn genetic diseases [RCV003198826] Chr5:140548928 [GRCh38]
Chr5:139928513 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_017747.3(ANKHD1):c.5390dup (p.Thr1798fs) duplication not provided [RCV003326104] Chr5:140528334..140528335 [GRCh38]
Chr5:139907919..139907920 [GRCh37]
Chr5:5q31.3
not provided
NM_017747.3(ANKHD1):c.1590T>C (p.Asp530=) single nucleotide variant not provided [RCV003436460] Chr5:140459273 [GRCh38]
Chr5:139838858 [GRCh37]
Chr5:5q31.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:806
Count of miRNA genes:403
Interacting mature miRNAs:431
Transcripts:ENST00000437495, ENST00000474060, ENST00000532219
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.

Markers in Region
D5S2116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,877,413 - 139,877,697UniSTSGRCh37
Build 365139,857,597 - 139,857,881RGDNCBI36
Celera5135,954,309 - 135,954,583RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,022,805 - 135,023,079UniSTS
Marshfield Genetic Map5142.92RGD
Marshfield Genetic Map5142.92UniSTS
Genethon Genetic Map5142.5UniSTS
deCODE Assembly Map5139.91UniSTS
Whitehead-YAC Contig Map5 UniSTS
WI-14182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,928,984 - 139,929,133UniSTSGRCh37
Build 365139,909,168 - 139,909,317RGDNCBI36
Celera5136,005,735 - 136,005,884RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,074,323 - 135,074,472UniSTS
GeneMap99-GB4 RH Map5528.69UniSTS
Whitehead-RH Map5440.2UniSTS
NCBI RH Map5889.1UniSTS
RH67791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,892,374 - 139,892,500UniSTSGRCh37
Build 365139,872,558 - 139,872,684RGDNCBI36
Celera5135,969,271 - 135,969,397RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,037,765 - 135,037,891UniSTS
GeneMap99-GB4 RH Map5531.62UniSTS
NCBI RH Map5889.1UniSTS
RH93300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,851,838 - 139,851,970UniSTSGRCh37
Build 365139,832,022 - 139,832,154RGDNCBI36
Celera5135,928,718 - 135,928,850RGD
Cytogenetic Map5q31.3UniSTS
HuRef5134,997,214 - 134,997,346UniSTS
GeneMap99-GB4 RH Map5531.62UniSTS
RH102873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,907,364 - 139,907,488UniSTSGRCh37
Build 365139,887,548 - 139,887,672RGDNCBI36
Celera5135,984,117 - 135,984,241RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,052,705 - 135,052,829UniSTS
GeneMap99-GB4 RH Map5531.02UniSTS
D5S1582E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,928,900 - 139,929,031UniSTSGRCh37
Build 365139,909,084 - 139,909,215RGDNCBI36
Celera5136,005,651 - 136,005,782RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,074,239 - 135,074,370UniSTS
G19635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,928,962 - 139,929,063UniSTSGRCh37
Build 365139,909,146 - 139,909,247RGDNCBI36
Celera5136,005,713 - 136,005,814RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,074,301 - 135,074,402UniSTS
A001T37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,928,962 - 139,929,063UniSTSGRCh37
Build 365139,909,146 - 139,909,247RGDNCBI36
Celera5136,005,713 - 136,005,814RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,074,301 - 135,074,402UniSTS
GeneMap99-GB4 RH Map5531.42UniSTS
NCBI RH Map5889.1UniSTS
SHGC-150281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,877,405 - 139,877,685UniSTSGRCh37
Build 365139,857,589 - 139,857,869RGDNCBI36
Celera5135,954,301 - 135,954,571RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,022,797 - 135,023,067UniSTS
TNG Radiation Hybrid Map483624.0UniSTS
TNG Radiation Hybrid Map564158.0UniSTS
PMC138568P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,928,496 - 139,929,144UniSTSGRCh37
Build 365139,908,680 - 139,909,328RGDNCBI36
Celera5136,005,247 - 136,005,895RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,073,835 - 135,074,483UniSTS
EIF4EBP3_7925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,928,829 - 139,929,358UniSTSGRCh37
Build 365139,909,013 - 139,909,542RGDNCBI36
Celera5136,005,580 - 136,006,109RGD
HuRef5135,074,168 - 135,074,697UniSTS
STS-AA019993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,892,375 - 139,892,579UniSTSGRCh37
GRCh375139,892,295 - 139,892,479UniSTSGRCh37
Build 365139,872,479 - 139,872,663RGDNCBI36
Celera5135,969,192 - 135,969,376RGD
Celera5135,969,272 - 135,969,476UniSTS
Cytogenetic Map5q31.3UniSTS
HuRef5135,037,766 - 135,037,970UniSTS
HuRef5135,037,686 - 135,037,870UniSTS
GeneMap99-GB4 RH Map5529.2UniSTS
NCBI RH Map5889.1UniSTS
RH69856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,847,906 - 139,848,038UniSTSGRCh37
Build 365139,828,090 - 139,828,222RGDNCBI36
Celera5135,924,787 - 135,924,919RGD
Cytogenetic Map5q31.3UniSTS
HuRef5134,993,281 - 134,993,413UniSTS
GeneMap99-GB4 RH Map5529.1UniSTS
NCBI RH Map5889.1UniSTS
RH78625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,921,514 - 139,921,642UniSTSGRCh37
Build 365139,901,698 - 139,901,826RGDNCBI36
Celera5135,998,266 - 135,998,394RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,066,853 - 135,066,981UniSTS
GeneMap99-GB4 RH Map5531.62UniSTS
NCBI RH Map5889.1UniSTS
RH66185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375139,857,563 - 139,857,728UniSTSGRCh37
Build 365139,837,747 - 139,837,912RGDNCBI36
Celera5135,934,443 - 135,934,608RGD
Cytogenetic Map5q31.3UniSTS
HuRef5135,002,939 - 135,003,104UniSTS
GeneMap99-GB4 RH Map5531.42UniSTS
NCBI RH Map5889.1UniSTS
RH67899  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.3UniSTS
GeneMap99-GB4 RH Map7167.68UniSTS
NCBI RH Map7556.6UniSTS
STS-AA019993  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.3UniSTS
GeneMap99-GB4 RH Map5528.76UniSTS
NCBI RH Map5889.1UniSTS


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 appendage entire extraembryonic component pharyngeal arch
High
Medium 7 7 5 3 42 2 2 4 28 1 18 6 5 1 2 2
Low 350 45 418 322 1311 330 517 126 262 378 514 604 15 3 7
Below cutoff 79 15 173 133 58 133 80 9 53 223 145 138 1 1

Sequence


RefSeq Acc Id: ENST00000437495   ⟹   ENSP00000396882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,528,914 - 140,549,569 (+)Ensembl
RefSeq Acc Id: ENST00000474060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,528,826 - 140,549,569 (+)Ensembl
RefSeq Acc Id: ENST00000532219   ⟹   ENSP00000432016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5140,401,908 - 140,549,569 (+)Ensembl
RefSeq Acc Id: NM_020690   ⟹   NP_065741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385140,401,833 - 140,549,576 (+)NCBI
GRCh375139,781,399 - 139,929,163 (+)ENTREZGENE
Build 365139,761,613 - 139,909,347 (+)NCBI Archive
Celera5135,858,059 - 136,005,914 (+)RGD
HuRef5134,926,568 - 135,074,502 (+)ENTREZGENE
CHM1_15139,214,501 - 139,362,411 (+)NCBI
T2T-CHM13v2.05140,927,267 - 141,075,006 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_065741 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAO14944 (Get FASTA)   NCBI Sequence Viewer  
  BAA83037 (Get FASTA)   NCBI Sequence Viewer  
  EAW62055 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354085.2
  ENSP00000378211.3
  ENSP00000378212.3
  ENSP00000396882.1
  ENSP00000432016
  ENSP00000478529.1
RefSeq Acc Id: NP_065741   ⟸   NM_020690
- UniProtKB: Q8IWZ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000432016   ⟸   ENST00000532219
RefSeq Acc Id: ENSP00000396882   ⟸   ENST00000437495
Protein Domains
KH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IWZ3-F1-model_v2 AlphaFold Q8IWZ3 1-2542 view protein structure

Promoters
RGD ID:6802880
Promoter ID:HG_KWN:51265
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:ENST00000253810,   ENST00000261805,   ENST00000310356,   NM_017978,   NM_020690,   NM_024668,   OTTHUMT00000251672,   OTTHUMT00000268737,   UC003LFN.2,   UC003LFQ.1,   UC010JFK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365139,760,611 - 139,762,357 (+)MPROMDB
RGD ID:6802852
Promoter ID:HG_KWN:51274
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000268744,   OTTHUMT00000268751,   UC003LFX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365139,888,611 - 139,889,422 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33530 AgrOrtholog
COSMIC ANKHD1-EIF4EBP3 COSMIC
Ensembl Genes ENSG00000131503 UniProtKB/Swiss-Prot
  ENSG00000254996 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000360839.7 UniProtKB/Swiss-Prot
  ENST00000394722.7 UniProtKB/Swiss-Prot
  ENST00000394723.7 UniProtKB/Swiss-Prot
  ENST00000437495.1 UniProtKB/TrEMBL
  ENST00000532219 ENTREZGENE
  ENST00000616482.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
  3.30.1370.10 UniProtKB/Swiss-Prot
GTEx ENSG00000131503 GTEx
  ENSG00000254996 GTEx
HGNC ID HGNC:33530 ENTREZGENE
Human Proteome Map ANKHD1-EIF4EBP3 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  KH-I_ANKHD1 UniProtKB/Swiss-Prot
  KH_dom UniProtKB/Swiss-Prot
  KH_dom_type_1 UniProtKB/Swiss-Prot
  KH_dom_type_1_sf UniProtKB/Swiss-Prot
KEGG Report hsa:404734 UniProtKB/Swiss-Prot
  hsa:54882 UniProtKB/Swiss-Prot
NCBI Gene 404734 ENTREZGENE
PANTHER ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MASK PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot
  Ank_4 UniProtKB/Swiss-Prot
  KH_1 UniProtKB/Swiss-Prot
PharmGKB PA162376432 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
  KH_TYPE_1 UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
  SM00322 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
  SSF54791 UniProtKB/Swiss-Prot
UniProt ANKH1_HUMAN UniProtKB/Swiss-Prot
  H7C0V5_HUMAN UniProtKB/TrEMBL
  Q8IWZ3 ENTREZGENE
UniProt Secondary A6NH85 UniProtKB/Swiss-Prot
  Q149P2 UniProtKB/Swiss-Prot
  Q8IWZ2 UniProtKB/Swiss-Prot
  Q8WY90 UniProtKB/Swiss-Prot
  Q96G77 UniProtKB/Swiss-Prot
  Q96GK0 UniProtKB/Swiss-Prot
  Q9H2U0 UniProtKB/Swiss-Prot
  Q9HA95 UniProtKB/Swiss-Prot
  Q9NWG4 UniProtKB/Swiss-Prot
  Q9UPR7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ANKHD1-EIF4EBP3  ANKHD1-EIF4EBP3 readthrough  ANKHD1-EIF4EBP3  ANKHD1-EIF4EBP3 readthrough transcript  Symbol and/or name change 5135510 APPROVED