ACTR1A (actin related protein 1A) - Rat Genome Database

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Gene: ACTR1A (actin related protein 1A) Homo sapiens
Analyze
Symbol: ACTR1A
Name: actin related protein 1A
RGD ID: 1315973
HGNC Page HGNC:167
Description: Predicted to enable ATP binding activity. Predicted to be involved in vesicle-mediated transport. Located in cell cortex and centrosome. Biomarker of Down syndrome and colon cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: actin-RPV; alpha-centractin; ARP1; ARP1 actin related protein 1 homolog A; ARP1 actin-related protein 1 homolog A, centractin alpha; ARP1 actin-related protein 1 homolog A, centractin alpha (yeast); Arp1A; centractin; centrosome-associated actin homolog; CTRN1; FLJ52695; FLJ52800; FLJ55002
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ACTR1AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810102,479,229 - 102,502,712 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10102,461,881 - 102,502,712 (-)EnsemblGRCh38hg38GRCh38
GRCh3710104,238,986 - 104,262,469 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610104,228,976 - 104,252,452 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410104,228,976 - 104,252,452NCBI
Celera1097,979,888 - 98,003,421 (-)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,872,832 - 97,896,289 (-)NCBIHuRef
CHM1_110104,522,437 - 104,545,972 (-)NCBICHM1_1
T2T-CHM13v2.010103,364,208 - 103,387,699 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHumancolon cancer  IEP 13831341 RGD 
ACTR1AHumanDown syndrome  IEP 13831340protein:decreased expression:cortexRGD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHumandesmoplastic/nodular medulloblastoma  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastomaClinVarPMID:12068298

1 to 20 of 64 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHuman(S)-nicotine multiple interactionsISOActr1a (Mus musculus)6480464[Nicotine co-treated with 1-Methyl-4-phenyl-1 more ...CTDPMID:20230807
ACTR1AHuman1,2-dimethylhydrazine multiple interactionsISOActr1a (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of ACTR1A mRNACTDPMID:22206623
ACTR1AHuman1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine increases expressionISOActr1a (Mus musculus)64804641-Methyl-4-phenyl-1 more ...CTDPMID:20230807
ACTR1AHuman1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine multiple interactionsISOActr1a (Mus musculus)6480464[Caffeine co-treated with 1-Methyl-4-phenyl-1 more ...CTDPMID:20230807
ACTR1AHuman17alpha-ethynylestradiol increases expressionISOActr1a (Mus musculus)6480464Ethinyl Estradiol results in increased expression of ACTR1A mRNACTDPMID:17942748
ACTR1AHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISOActr1a (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of ACTR1A mRNACTDPMID:21570461
ACTR1AHuman2,4-dibromophenyl 2,4,5-tribromophenyl ether decreases expressionISOActr1a (Rattus norvegicus)64804642 more ...CTDPMID:19954255
ACTR1AHuman2,4-dinitrotoluene affects expressionISOActr1a (Rattus norvegicus)64804642 and 4-dinitrotoluene affects the expression of ACTR1A mRNACTDPMID:21346803
ACTR1AHuman3-isobutyl-1-methyl-7H-xanthine multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of ACTR1A mRNACTDPMID:28628672
ACTR1AHumanall-trans-retinoic acid affects expressionISOActr1a (Mus musculus)6480464Tretinoin affects the expression of ACTR1A proteinCTDPMID:15789344
ACTR1AHumanatrazine increases expressionEXP 6480464Atrazine results in increased expression of ACTR1A mRNACTDPMID:22378314
ACTR1AHumanbenzatropine multiple interactionsEXP 6480464[Cuprizone co-treated with Benztropine] results in increased expression of ACTR1A proteinCTDPMID:34122009
ACTR1AHumanbenzo[a]pyrene increases expressionISOActr1a (Mus musculus)6480464Benzo(a)pyrene results in increased expression of ACTR1A mRNACTDPMID:21715664
ACTR1AHumanbisphenol A decreases expressionISOActr1a (Rattus norvegicus)6480464bisphenol A results in decreased expression of ACTR1A mRNACTDPMID:25181051
ACTR1AHumanbisphenol A increases expressionEXP 6480464bisphenol A results in increased expression of ACTR1A proteinCTDPMID:37567409
ACTR1AHumanbisphenol A decreases expressionEXP 6480464bisphenol A results in decreased expression of ACTR1A proteinCTDPMID:34186270
ACTR1AHumanbisphenol A increases expressionISOActr1a (Rattus norvegicus)6480464bisphenol A results in increased expression of ACTR1A mRNACTDPMID:32145629
ACTR1AHumanbisphenol A increases methylationISOActr1a (Rattus norvegicus)6480464bisphenol A results in increased methylation of ACTR1A geneCTDPMID:28505145
ACTR1AHumanbisphenol F multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of ACTR1A mRNACTDPMID:28628672
ACTR1AHumanBrodifacoum decreases expressionISOActr1a (Rattus norvegicus)6480464bromfenacoum results in decreased expression of ACTR1A proteinCTDPMID:28903499

1 to 20 of 64 rows

Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHumanspermatogenesis  ISOActr1a (Rattus norvegicus)9068941 RGDPMID:10671377 and REF_RGD_ID:11541119
ACTR1AHumanvesicle-mediated transport involved_inTAS 150520179 PMID:1528266PINCPMID:1528266

Cellular Component
1 to 16 of 16 rows

  
Object Symbol
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Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHumancell cortex located_inIEAUniProtKB-SubCell:SL-0138150520179 UniProtGO_REF:0000044
ACTR1AHumancell cortex located_inIDA 150520179 PMID:22327364UniProtPMID:22327364
ACTR1AHumancentriole  ISOActr1a (Rattus norvegicus)9068941 RGDPMID:10671377 and REF_RGD_ID:11541119
ACTR1AHumancentrosome located_inIEAUniProtKB-SubCell:SL-0048150520179 UniProtGO_REF:0000044
ACTR1AHumancentrosome located_inIDA 150520179 PMID:21399614UniProtPMID:21399614
ACTR1AHumanCOPI-coated vesicle  ISOActr1a (Rattus norvegicus)9068941 RGDPMID:10196146 and REF_RGD_ID:11541123
ACTR1AHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
ACTR1AHumancytoplasm located_inIDA 150520179 LIFEdbGO_REF:0000054
ACTR1AHumancytoskeleton located_inIEAUniProtKB-KW:KW-0206150520179 UniProtGO_REF:0000043
ACTR1AHumancytoskeleton located_inIEAUniProtKB-SubCell:SL-0090150520179 UniProtGO_REF:0000044
ACTR1AHumancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-2213248 more ...
ACTR1AHumandynactin complex part_ofIBAPANTHER:PTN000233666 more ...150520179 GO_CentralGO_REF:0000033
ACTR1AHumandynactin complex part_ofTAS 150520179 PMID:7696711PINCPMID:7696711
ACTR1AHumanextracellular exosome located_inHDA 150520179 PMID:19056867 and PMID:23533145UniProtPMID:19056867 and PMID:23533145
ACTR1AHumanmanchette  ISOActr1a (Rattus norvegicus)9068941 RGDPMID:10671377 and REF_RGD_ID:11541119
ACTR1AHumanmicrotubule associated complex part_ofTAS 150520179 PMID:7696711PINCPMID:7696711
1 to 16 of 16 rows

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHumanATP binding enablesIEAUniProtKB-KW:KW-0067150520179 UniProtGO_REF:0000043
ACTR1AHumannucleotide binding enablesIEAUniProtKB-KW:KW-0547150520179 UniProtGO_REF:0000043
ACTR1AHumanprotein binding enablesIPIUniProtKB:Q9P287-2150520179 PMID:28394342UniProtPMID:28394342

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ACTR1AHumanmitochondria transport pathway  TAS 10402155 RGD 

#
Reference Title
Reference Citation
1. Application of serex-analysis for identification of human colon cancer antigens. Garifulin OM, etal., Exp Oncol. 2015 Sep;37(3):173-80.
2. Aberrant expression of centractin and capping proteins, integral constituents of the dynactin complex, in fetal down syndrome brain. Gulesserian T, etal., Biochem Biophys Res Commun. 2002 Feb 15;291(1):62-7. doi: 10.1006/bbrc.2002.6389.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Dynactin. Schroer TA, Annu Rev Cell Dev Biol. 2004;20:759-79.
1 to 10 of 14 rows
PMID:1356230   PMID:1528266   PMID:7518465   PMID:7696711   PMID:7790358   PMID:7878030   PMID:8991093   PMID:9499420   PMID:10074429   PMID:10196146   PMID:10504299   PMID:10607828  
PMID:10671377   PMID:10671518   PMID:11076863   PMID:11076968   PMID:11256614   PMID:11357136   PMID:11461920   PMID:11483508   PMID:12221128   PMID:12477932   PMID:12852856   PMID:12857853  
PMID:12871323   PMID:14702039   PMID:15164054   PMID:15489334   PMID:15489336   PMID:16196087   PMID:16381901   PMID:16462731   PMID:18303113   PMID:19056867   PMID:19737819   PMID:20360068  
PMID:20467437   PMID:21081503   PMID:21139048   PMID:21145461   PMID:21399614   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:22327364   PMID:22658674   PMID:22863883  
PMID:22939629   PMID:23000965   PMID:23184937   PMID:23376485   PMID:23533145   PMID:23535732   PMID:24625528   PMID:24816145   PMID:25147182   PMID:25281560   PMID:25798074   PMID:25921289  
PMID:26186194   PMID:26217791   PMID:26344197   PMID:26485645   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26725010   PMID:26777405   PMID:26816005   PMID:27173435   PMID:27432908  
PMID:27591049   PMID:27609421   PMID:27684187   PMID:28302793   PMID:28394342   PMID:28514442   PMID:28581483   PMID:28685749   PMID:28718761   PMID:28986522   PMID:29128334   PMID:29229926  
PMID:29467282   PMID:29507755   PMID:29511261   PMID:29540532   PMID:29576527   PMID:29844126   PMID:29845934   PMID:29955894   PMID:30021884   PMID:30097533   PMID:30455355   PMID:30462309  
PMID:30575818   PMID:30581152   PMID:30773093   PMID:30833792   PMID:30890647   PMID:30948266   PMID:31059266   PMID:31091453   PMID:31221720   PMID:31527615   PMID:31586073   PMID:31792442  
PMID:31839598   PMID:31980649   PMID:32529326   PMID:32687490   PMID:32807901   PMID:32941674   PMID:32989298   PMID:33022573   PMID:33239621   PMID:33306668   PMID:33644029   PMID:33729478  
1 to 10 of 14 rows



ACTR1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810102,479,229 - 102,502,712 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10102,461,881 - 102,502,712 (-)EnsemblGRCh38hg38GRCh38
GRCh3710104,238,986 - 104,262,469 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610104,228,976 - 104,252,452 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410104,228,976 - 104,252,452NCBI
Celera1097,979,888 - 98,003,421 (-)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,872,832 - 97,896,289 (-)NCBIHuRef
CHM1_110104,522,437 - 104,545,972 (-)NCBICHM1_1
T2T-CHM13v2.010103,364,208 - 103,387,699 (-)NCBIT2T-CHM13v2.0
Actr1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391946,365,252 - 46,384,180 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1946,365,250 - 46,384,187 (-)EnsemblGRCm39 Ensembl
GRCm381946,376,813 - 46,395,741 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1946,376,811 - 46,395,748 (-)EnsemblGRCm38mm10GRCm38
MGSCv371946,451,304 - 46,470,225 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361946,430,125 - 46,449,046 (-)NCBIMGSCv36mm8
Celera1947,139,989 - 47,159,305 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.84NCBI
Actr1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81255,179,241 - 255,199,009 (-)NCBIGRCr8
mRatBN7.21245,237,821 - 245,256,618 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1245,237,826 - 245,256,495 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1253,359,208 - 253,377,911 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01260,053,858 - 260,072,550 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01252,705,669 - 252,724,353 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01266,123,864 - 266,142,621 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1266,123,870 - 266,142,538 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01273,554,805 - 273,573,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41251,592,429 - 251,611,097 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11251,855,583 - 251,874,603 (-)NCBI
Celera1241,020,570 - 241,039,215 (-)NCBICelera
Cytogenetic Map1q54NCBI
Actr1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554857,926,744 - 7,944,648 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554857,926,744 - 7,944,648 (+)NCBIChiLan1.0ChiLan1.0
ACTR1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28114,366,764 - 114,390,285 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110114,372,086 - 114,395,607 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01099,082,765 - 99,106,305 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110102,547,695 - 102,570,766 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10102,547,695 - 102,570,766 (-)Ensemblpanpan1.1panPan2
ACTR1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12814,972,512 - 14,990,434 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2814,972,515 - 14,990,434 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2815,144,838 - 15,162,754 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02815,446,553 - 15,464,473 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2815,443,623 - 15,464,462 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12814,991,502 - 15,009,420 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02815,030,653 - 15,048,570 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02815,163,237 - 15,181,156 (-)NCBIUU_Cfam_GSD_1.0
Actr1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721331,781,260 - 31,799,087 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366003,384,423 - 3,402,304 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366003,384,466 - 3,402,312 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTR1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14113,480,196 - 113,498,740 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114113,480,196 - 113,498,794 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214123,335,570 - 123,354,172 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTR1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1995,507,685 - 95,531,015 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl995,506,675 - 95,530,984 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604856,615,155 - 56,638,590 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Actr1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248311,859,043 - 1,881,307 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248311,861,185 - 1,880,706 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in ACTR1A
17 total Variants

1 to 10 of 39 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 copy number loss See cases [RCV000052568] Chr10:102243341..103929730 [GRCh38]
Chr10:104003098..105689488 [GRCh37]
Chr10:103993088..105679478 [NCBI36]
Chr10:10q24.32-24.33
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_005736.3(ACTR1A):c.1017C>T (p.Ser339=) single nucleotide variant Malignant melanoma [RCV000068777] Chr10:102481143 [GRCh38]
Chr10:104240900 [GRCh37]
Chr10:104230890 [NCBI36]
Chr10:10q24.32
not provided
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
1 to 10 of 39 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR15Ahsa-miR-15a-5pMirecordsexternal_infoNANA18362358

Predicted Target Of
Summary Value
Count of predictions:3561
Count of miRNA genes:982
Interacting mature miRNAs:1199
Transcripts:ENST00000369905, ENST00000446605, ENST00000470322, ENST00000480947, ENST00000481044, ENST00000487599, ENST00000494549, ENST00000545684
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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597165055GWAS1261129_Herythrocyte count QTL GWAS1261129 (human)5e-09erythrocyte countred blood cell count (CMO:0000025)10102502299102502300Human
406941816GWAS590792_Hinsomnia measurement QTL GWAS590792 (human)4e-11sleep behavior trait (VT:0001501)10102481926102481927Human
406940970GWAS589946_Hinsomnia measurement QTL GWAS589946 (human)5e-08sleep behavior trait (VT:0001501)10102481926102481927Human
597274165GWAS1370239_HBMI-adjusted hip circumference QTL GWAS1370239 (human)4e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)10102485191102485192Human
597139273GWAS1235347_Hneuroimaging measurement QTL GWAS1235347 (human)3e-17neuroimaging measurement10102479343102479344Human
597330085GWAS1426159_Hsexual dimorphism measurement QTL GWAS1426159 (human)5e-10sexual dimorphism measurement10102489866102489867Human

WI-22078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372110,942,460 - 110,942,713UniSTSGRCh37
GRCh3710104,240,665 - 104,241,875UniSTSGRCh37
Build 362110,299,749 - 110,300,002RGDNCBI36
Celera1097,981,567 - 97,982,777UniSTS
Celera2104,864,714 - 104,864,967RGD
Cytogenetic Map2q13UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef1097,874,511 - 97,875,721UniSTS
HuRef2104,082,792 - 104,083,045UniSTS
GeneMap99-GB4 RH Map10488.42UniSTS
Whitehead-RH Map10578.7UniSTS
NCBI RH Map101122.0UniSTS
RH47050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,240,142 - 104,240,269UniSTSGRCh37
GRCh372110,943,112 - 110,943,256UniSTSGRCh37
Build 362110,300,401 - 110,300,545RGDNCBI36
Celera2104,864,171 - 104,864,315RGD
Celera1097,981,044 - 97,981,171UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q13UniSTS
HuRef2104,083,444 - 104,083,588UniSTS
HuRef1097,873,988 - 97,874,115UniSTS
G54143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,239,029 - 104,239,158UniSTSGRCh37
Build 3610104,229,019 - 104,229,148RGDNCBI36
Celera1097,979,931 - 97,980,060RGD
Cytogenetic Map10q24.32UniSTS
HuRef1097,872,875 - 97,873,004UniSTS
GDB:451658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,239,365 - 104,239,477UniSTSGRCh37
GRCh372110,943,928 - 110,944,040UniSTSGRCh37
Build 362110,301,217 - 110,301,329RGDNCBI36
Celera2104,863,387 - 104,863,499RGD
Celera1097,980,267 - 97,980,379UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map10q24.32UniSTS
HuRef2104,084,260 - 104,084,372UniSTS
HuRef1097,873,211 - 97,873,323UniSTS
SHGC-145218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,257,859 - 104,258,134UniSTSGRCh37
Build 3610104,247,849 - 104,248,124RGDNCBI36
Celera1097,998,760 - 97,999,035RGD
Cytogenetic Map10q24.32UniSTS
HuRef1097,891,627 - 97,891,903UniSTS
TNG Radiation Hybrid Map1050151.0UniSTS
SHGC-57449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,243,005 - 104,243,202UniSTSGRCh37
Build 3610104,232,995 - 104,233,192RGDNCBI36
Celera1097,983,907 - 97,984,104RGD
Cytogenetic Map10q24.32UniSTS
HuRef1097,876,851 - 97,877,048UniSTS
TNG Radiation Hybrid Map1050332.0UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 18 of 18 rows
RefSeq Transcripts NG_011901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK096085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z14978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 18 of 18 rows

Ensembl Acc Id: ENST00000369905   ⟹   ENSP00000358921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,479,229 - 102,502,712 (-)Ensembl
Ensembl Acc Id: ENST00000470322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,479,230 - 102,483,680 (-)Ensembl
Ensembl Acc Id: ENST00000480947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,484,074 - 102,488,233 (-)Ensembl
Ensembl Acc Id: ENST00000481044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,483,014 - 102,502,654 (-)Ensembl
Ensembl Acc Id: ENST00000487599   ⟹   ENSP00000473334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,479,237 - 102,502,678 (-)Ensembl
Ensembl Acc Id: ENST00000494549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,480,795 - 102,484,374 (-)Ensembl
Ensembl Acc Id: ENST00000636707   ⟹   ENSP00000490634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,461,881 - 102,502,709 (-)Ensembl
RefSeq Acc Id: NM_005736   ⟹   NP_005727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,479,229 - 102,502,712 (-)NCBI
GRCh3710104,238,986 - 104,262,580 (-)NCBI
Build 3610104,228,976 - 104,252,452 (-)NCBI Archive
HuRef1097,872,832 - 97,896,289 (-)ENTREZGENE
CHM1_110104,522,437 - 104,545,972 (-)NCBI
T2T-CHM13v2.010103,364,208 - 103,387,699 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047424427   ⟹   XP_047280383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,479,229 - 102,502,712 (-)NCBI
RefSeq Acc Id: XM_054364473   ⟹   XP_054220448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,364,208 - 103,387,699 (-)NCBI
RefSeq Acc Id: NP_005727   ⟸   NM_005736
- UniProtKB: B2R6B0 (UniProtKB/Swiss-Prot),   P42024 (UniProtKB/Swiss-Prot),   P61163 (UniProtKB/Swiss-Prot),   A0A384NQ21 (UniProtKB/TrEMBL),   B4DM97 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000490634   ⟸   ENST00000636707
Ensembl Acc Id: ENSP00000358921   ⟸   ENST00000369905
Ensembl Acc Id: ENSP00000473334   ⟸   ENST00000487599
RefSeq Acc Id: XP_047280383   ⟸   XM_047424427
- Peptide Label: isoform X1
- UniProtKB: E9PGF2 (UniProtKB/TrEMBL),   B4DXP9 (UniProtKB/TrEMBL),   B4DMT4 (UniProtKB/TrEMBL)

Name Modeler Protein Id AA Range Protein Structure
AF-P61163-F1-model_v2 AlphaFold P61163 1-376 view protein structure

RGD ID:7218533
Promoter ID:EPDNEW_H15012
Type:initiation region
Name:ACTR1A_1
Description:ARP1 actin-related protein 1 homolog A, centractin alpha
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
GRCh3810102,502,712 - 102,502,772EPDNEW
RGD ID:6787308
Promoter ID:HG_KWN:10994
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000050053,   OTTHUMT00000050054,   OTTHUMT00000050058
Position:
Human AssemblyChrPosition (strand)Source
Build 3610104,252,016 - 104,252,667 (-)MPROMDB
RGD ID:6850542
Promoter ID:EP73062
Type:initiation region
Name:HS_ACTR1A
Description:ARP1 actin-related protein 1 homolog A, centractin alpha (yeast).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 3610104,252,459 - 104,252,519EPD


1 to 37 of 37 rows
Database
Acc Id
Source(s)
COSMIC ACTR1A COSMIC
Ensembl Genes ENSG00000138107 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369905 ENTREZGENE
  ENST00000369905.9 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.420.40 UniProtKB/Swiss-Prot
  Actin, Chain A, domain 4 UniProtKB/Swiss-Prot
GTEx ENSG00000138107 GTEx
HGNC ID HGNC:167 ENTREZGENE
Human Proteome Map ACTR1A Human Proteome Map
InterPro Actin UniProtKB/Swiss-Prot
  Actin/actin-like_CS UniProtKB/Swiss-Prot
  Actin_CS UniProtKB/Swiss-Prot
  ATPase_NBD UniProtKB/Swiss-Prot
KEGG Report hsa:10121 UniProtKB/Swiss-Prot
NCBI Gene 10121 ENTREZGENE
OMIM 605143 OMIM
PANTHER PTHR11937 UniProtKB/Swiss-Prot
Pfam Actin UniProtKB/Swiss-Prot
PharmGKB PA24486 PharmGKB
PRINTS ACTIN UniProtKB/Swiss-Prot
PROSITE ACTINS_2 UniProtKB/Swiss-Prot
  ACTINS_ACT_LIKE UniProtKB/Swiss-Prot
SMART ACTIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53067 UniProtKB/Swiss-Prot
UniProt A0A1B0GVS3_HUMAN UniProtKB/TrEMBL
  A0A384NQ21 ENTREZGENE, UniProtKB/TrEMBL
  ACTZ_HUMAN UniProtKB/Swiss-Prot
  B2R6B0 ENTREZGENE
  B4DM97 ENTREZGENE, UniProtKB/TrEMBL
  B4DMT4 ENTREZGENE, UniProtKB/TrEMBL
  B4DXP9 ENTREZGENE, UniProtKB/TrEMBL
  E9PGF2 ENTREZGENE
  P42024 ENTREZGENE
  P61163 ENTREZGENE
  R4GMT0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R6B0 UniProtKB/Swiss-Prot
  P42024 UniProtKB/Swiss-Prot
1 to 37 of 37 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-15 ACTR1A  actin related protein 1A  ACTR1A  ARP1 actin related protein 1 homolog A  Symbol and/or name change 5135510 APPROVED
2017-05-02 ACTR1A  ARP1 actin related protein 1 homolog A  ACTR1A  ARP1 actin-related protein 1 homolog A, centractin alpha  Symbol and/or name change 5135510 APPROVED
2016-04-19 ACTR1A  ARP1 actin-related protein 1 homolog A, centractin alpha  ACTR1A  ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)  Symbol and/or name change 5135510 APPROVED