GPAA1 (glycosylphosphatidylinositol anchor attachment 1) - Rat Genome Database

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Gene: GPAA1 (glycosylphosphatidylinositol anchor attachment 1) Homo sapiens
Analyze
Symbol: GPAA1
Name: glycosylphosphatidylinositol anchor attachment 1
RGD ID: 1353728
HGNC Page HGNC
Description: Contributes to GPI anchor binding activity. Involved in protein-containing complex assembly. Localizes to several cellular components, including GPI-anchor transamidase complex; centrosome; and mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anchor attachment protein 1 (Gaa1p, yeast) homolog; GAA1; GAA1 protein homolog; glycophosphatidylinositol anchor attachment 1; glycosylphosphatidylinositol anchor attachment 1 protein; glycosylphosphatidylinositol anchor attachment protein 1 homolog; GPAA1P anchor attachment protein 1 homolog; gpaa1p anchor attachment protein 1 homolog (yeast); GPI anchor attachment protein 1; GPI transamidase subunit; GPIBD15; hGAA1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GPAA1P1   GPAA1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,082,590 - 144,086,216 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,082,634 - 144,086,216 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,137,537 - 145,141,119 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,209,512 - 145,213,107 (+)NCBINCBI36hg18NCBI36
Build 348145,209,526 - 145,213,102NCBI
Celera8141,475,157 - 141,478,683 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,413,426 - 140,417,021 (+)NCBIHuRef
CHM1_18145,177,776 - 145,181,371 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1846368   PMID:9468317   PMID:9828142   PMID:10393431   PMID:10793132   PMID:11483512   PMID:12052837   PMID:12477932   PMID:12582175   PMID:12802054   PMID:14660601   PMID:15489334  
PMID:15713669   PMID:16169070   PMID:16642471   PMID:18028549   PMID:19946888   PMID:21873635   PMID:21886157   PMID:22810586   PMID:22939629   PMID:24743167   PMID:26186194   PMID:26496610  
PMID:26638075   PMID:27173435   PMID:28298427   PMID:28514442   PMID:28931009   PMID:29100095   PMID:29180619   PMID:31091453   PMID:31118109   PMID:32432756   PMID:32533362  


Genomics

Comparative Map Data
GPAA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,082,590 - 144,086,216 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,082,634 - 144,086,216 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,137,537 - 145,141,119 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,209,512 - 145,213,107 (+)NCBINCBI36hg18NCBI36
Build 348145,209,526 - 145,213,102NCBI
Celera8141,475,157 - 141,478,683 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,413,426 - 140,417,021 (+)NCBIHuRef
CHM1_18145,177,776 - 145,181,371 (+)NCBICHM1_1
Gpaa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,215,494 - 76,219,099 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,215,431 - 76,219,107 (+)Ensembl
GRCm381576,331,294 - 76,334,900 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,331,231 - 76,334,907 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,161,724 - 76,165,329 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,158,549 - 76,162,154 (+)NCBImm8
Celera1577,831,354 - 77,834,959 (+)NCBICelera
Cytogenetic Map15D3NCBI
Gpaa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,051,896 - 108,055,479 (+)NCBI
Rnor_6.0 Ensembl7117,394,372 - 117,397,956 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,394,367 - 117,397,950 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,381,997 - 117,385,580 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,378,978 - 114,382,561 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,413,207 - 114,416,790 (+)NCBI
Celera7104,404,246 - 104,407,829 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gpaa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,735,463 - 2,738,956 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,735,463 - 2,738,956 (+)NCBIChiLan1.0ChiLan1.0
GPAA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A111,487,498 - 111,510,259 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,840,524 - 143,845,352 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A91,716,647 - 91,721,082 (-)NCBIMhudiblu_PPA_v0panPan3
GPAA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,577,162 - 37,580,346 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,576,354 - 37,580,345 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,540,819 - 37,543,992 (+)NCBI
ROS_Cfam_1.01338,053,394 - 38,056,568 (+)NCBI
UMICH_Zoey_3.11337,725,487 - 37,728,658 (+)NCBI
UNSW_CanFamBas_1.01337,853,701 - 37,856,859 (+)NCBI
UU_Cfam_GSD_1.01338,330,285 - 38,333,466 (+)NCBI
Gpaa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303666,664 - 670,968 (-)NCBI
SpeTri2.0NW_0049364708,092,758 - 8,096,277 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GPAA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4614,601 - 618,241 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14614,596 - 618,274 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24767,760 - 771,431 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPAA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,295,851 - 138,299,461 (+)NCBI
ChlSab1.1 Ensembl8138,296,002 - 138,299,370 (+)Ensembl
Gpaa1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,739,750 - 12,743,219 (-)NCBI

Position Markers
D8S1358E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,140,474 - 145,140,584UniSTSGRCh37
Build 368145,212,462 - 145,212,572RGDNCBI36
Celera8141,478,038 - 141,478,148RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,416,376 - 140,416,486UniSTS
RH47058  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.3UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6272
Count of miRNA genes:964
Interacting mature miRNAs:1197
Transcripts:ENST00000355091, ENST00000361036, ENST00000524418, ENST00000525087, ENST00000525308, ENST00000526233, ENST00000526341, ENST00000527144, ENST00000527653, ENST00000528073, ENST00000529503, ENST00000529638, ENST00000530258, ENST00000530633, ENST00000530796, ENST00000531593, ENST00000532758, ENST00000534072
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 12
Medium 2438 2936 1723 622 1922 463 4355 2167 3718 416 1447 1612 175 1 1204 2787 6 2
Low 1 55 3 2 29 2 2 30 16 3 1 1 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000355091   ⟹   ENSP00000347206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,634 - 144,086,216 (+)Ensembl
RefSeq Acc Id: ENST00000361036   ⟹   ENSP00000354316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,668 - 144,086,216 (+)Ensembl
RefSeq Acc Id: ENST00000524418   ⟹   ENSP00000434544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,686 - 144,084,339 (+)Ensembl
RefSeq Acc Id: ENST00000525087   ⟹   ENSP00000434485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,614 - 144,084,747 (+)Ensembl
RefSeq Acc Id: ENST00000525308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,083,253 - 144,084,325 (+)Ensembl
RefSeq Acc Id: ENST00000526233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,083,989 - 144,084,849 (+)Ensembl
RefSeq Acc Id: ENST00000526341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,592 - 144,083,749 (+)Ensembl
RefSeq Acc Id: ENST00000527144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,083,215 - 144,084,795 (+)Ensembl
RefSeq Acc Id: ENST00000527653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,084,128 - 144,085,095 (+)Ensembl
RefSeq Acc Id: ENST00000528073   ⟹   ENSP00000435119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,688 - 144,084,519 (+)Ensembl
RefSeq Acc Id: ENST00000529503   ⟹   ENSP00000435024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,590 - 144,084,330 (+)Ensembl
RefSeq Acc Id: ENST00000529638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,084,191 - 144,086,185 (+)Ensembl
RefSeq Acc Id: ENST00000530258   ⟹   ENSP00000435132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,905 - 144,083,737 (+)Ensembl
RefSeq Acc Id: ENST00000530633   ⟹   ENSP00000431233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,626 - 144,084,585 (+)Ensembl
RefSeq Acc Id: ENST00000530796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,084,793 - 144,086,183 (+)Ensembl
RefSeq Acc Id: ENST00000531593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,084,737 - 144,085,446 (+)Ensembl
RefSeq Acc Id: ENST00000532758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,082,622 - 144,084,274 (+)Ensembl
RefSeq Acc Id: ENST00000534072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,084,852 - 144,086,184 (+)Ensembl
RefSeq Acc Id: NM_003801   ⟹   NP_003792
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,082,634 - 144,086,216 (+)NCBI
GRCh378145,137,064 - 145,141,119 (+)NCBI
Build 368145,209,512 - 145,213,107 (+)NCBI Archive
HuRef8140,413,426 - 140,417,021 (+)ENTREZGENE
CHM1_18145,177,776 - 145,181,371 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003792   ⟸   NM_003801
- UniProtKB: O43292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000431233   ⟸   ENST00000530633
RefSeq Acc Id: ENSP00000435132   ⟸   ENST00000530258
RefSeq Acc Id: ENSP00000354316   ⟸   ENST00000361036
RefSeq Acc Id: ENSP00000434544   ⟸   ENST00000524418
RefSeq Acc Id: ENSP00000434485   ⟸   ENST00000525087
RefSeq Acc Id: ENSP00000347206   ⟸   ENST00000355091
RefSeq Acc Id: ENSP00000435119   ⟸   ENST00000528073
RefSeq Acc Id: ENSP00000435024   ⟸   ENST00000529503

Promoters
RGD ID:7214435
Promoter ID:EPDNEW_H12959
Type:initiation region
Name:GPAA1_1
Description:glycosylphosphatidylinositol anchor attachment 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
GRCh388144,082,634 - 144,082,694EPDNEW
RGD ID:6806777
Promoter ID:HG_KWN:62312
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:ENST00000361036,   NM_003801,   UC003ZAV.1,   UC003ZAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,209,191 - 145,209,691 (+)MPROMDB
RGD ID:6813420
Promoter ID:HG_ACW:79385
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:GPAA1.HAPR07,   GPAA1.IAPR07,   GPAA1.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,210,071 - 145,210,571 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003801.4(GPAA1):c.920del (p.Gly307fs) deletion Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000519589] Chr8:144084518 [GRCh38]
Chr8:145139421 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003801.4(GPAA1):c.1256C>G (p.Ser419Ter) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001292945] Chr8:144085134 [GRCh38]
Chr8:145140037 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000521887] Chr8:144084471 [GRCh38]
Chr8:145139374 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) indel Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000519560] Chr8:144083209..144083210 [GRCh38]
Chr8:145138112..145138113 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000522028] Chr8:144084468 [GRCh38]
Chr8:145139371 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_003801.4(GPAA1):c.981_993del (p.Gln327fs) deletion Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000523072] Chr8:144084580..144084592 [GRCh38]
Chr8:145139483..145139495 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000523649] Chr8:144083951 [GRCh38]
Chr8:145138854 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000521850] Chr8:144085043 [GRCh38]
Chr8:145139946 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003801.4(GPAA1):c.1026G>A (p.Met342Ile) single nucleotide variant not provided [RCV000734275] Chr8:144084737 [GRCh38]
Chr8:145139640 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_003801.4(GPAA1):c.619del (p.Met207fs) deletion Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001336605]|not provided [RCV000627472] Chr8:144084136 [GRCh38]
Chr8:145139039 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000755735] Chr8:144083201 [GRCh38]
Chr8:145138104 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145101381-145138094)x3 copy number gain not provided [RCV000748006] Chr8:145101381..145138094 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
NM_003801.4(GPAA1):c.371T>C (p.Val124Ala) single nucleotide variant not provided [RCV000893215] Chr8:144083718 [GRCh38]
Chr8:145138621 [GRCh37]
Chr8:8q24.3
benign
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000988124] Chr8:144084236 [GRCh38]
Chr8:145139139 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_003801.4(GPAA1):c.1285G>A (p.Ala429Thr) single nucleotide variant not provided [RCV000969229] Chr8:144085313 [GRCh38]
Chr8:145140216 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003801.4(GPAA1):c.629C>T (p.Ser210Phe) single nucleotide variant not provided [RCV000888667] Chr8:144084146 [GRCh38]
Chr8:145139049 [GRCh37]
Chr8:8q24.3
benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) deletion Glycosylphosphatidylinositol biosynthesis defect 15 [RCV000988125] Chr8:144085598..144085599 [GRCh38]
Chr8:145140501..145140502 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NM_003801.4(GPAA1):c.1164+1A>G single nucleotide variant not specified [RCV001192516] Chr8:144084876 [GRCh38]
Chr8:145139779 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003801.4(GPAA1):c.1134C>T (p.Val378=) single nucleotide variant not provided [RCV000888668] Chr8:144084845 [GRCh38]
Chr8:145139748 [GRCh37]
Chr8:8q24.3
benign
NM_003801.4(GPAA1):c.1477A>G (p.Arg493Gly) single nucleotide variant not provided [RCV000888669] Chr8:144085598 [GRCh38]
Chr8:145140501 [GRCh37]
Chr8:8q24.3
benign
NM_003801.4(GPAA1):c.1623-8C>T single nucleotide variant not provided [RCV000955398] Chr8:144085874 [GRCh38]
Chr8:145140777 [GRCh37]
Chr8:8q24.3
benign
NM_003801.4(GPAA1):c.1540G>A (p.Ala514Thr) single nucleotide variant not provided [RCV000954185] Chr8:144085661 [GRCh38]
Chr8:145140564 [GRCh37]
Chr8:8q24.3
benign
NM_003801.4(GPAA1):c.823G>C (p.Glu275Gln) single nucleotide variant not provided [RCV000956686] Chr8:144084422 [GRCh38]
Chr8:145139325 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003801.4(GPAA1):c.1723G>T (p.Ala575Ser) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001329753] Chr8:144085982 [GRCh38]
Chr8:145140885 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003801.4(GPAA1):c.29G>A (p.Arg10Gln) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001329754] Chr8:144082759 [GRCh38]
Chr8:145137662 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003801.4(GPAA1):c.1268G>A (p.Gly423Glu) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001336603] Chr8:144085296 [GRCh38]
Chr8:145140199 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003801.4(GPAA1):c.1658C>T (p.Pro553Leu) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001336604] Chr8:144085917 [GRCh38]
Chr8:145140820 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_003801.4(GPAA1):c.319_320del (p.Ser107fs) microsatellite Glycosylphosphatidylinositol biosynthesis defect 15 [RCV001329755] Chr8:144083451..144083452 [GRCh38]
Chr8:145138354..145138355 [GRCh37]
Chr8:8q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4446 AgrOrtholog
COSMIC GPAA1 COSMIC
Ensembl Genes ENSG00000197858 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000347206 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354316 UniProtKB/Swiss-Prot
  ENSP00000431233 UniProtKB/TrEMBL
  ENSP00000434485 UniProtKB/TrEMBL
  ENSP00000434544 UniProtKB/TrEMBL
  ENSP00000435024 UniProtKB/TrEMBL
  ENSP00000435119 UniProtKB/TrEMBL
  ENSP00000435132 UniProtKB/TrEMBL
Ensembl Transcript ENST00000355091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361036 UniProtKB/Swiss-Prot
  ENST00000524418 UniProtKB/TrEMBL
  ENST00000525087 UniProtKB/TrEMBL
  ENST00000528073 UniProtKB/TrEMBL
  ENST00000529503 UniProtKB/TrEMBL
  ENST00000530258 UniProtKB/TrEMBL
  ENST00000530633 UniProtKB/TrEMBL
GTEx ENSG00000197858 GTEx
HGNC ID HGNC:4446 ENTREZGENE
Human Proteome Map GPAA1 Human Proteome Map
InterPro Gaa1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8733 UniProtKB/Swiss-Prot
NCBI Gene 8733 ENTREZGENE
OMIM 603048 OMIM
  617810 OMIM
PANTHER PTHR13304 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gaa1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28827 PharmGKB
PIRSF GAA1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DWL1_HUMAN UniProtKB/TrEMBL
  E9PLG8_HUMAN UniProtKB/TrEMBL
  E9PLV6_HUMAN UniProtKB/TrEMBL
  E9PM11_HUMAN UniProtKB/TrEMBL
  E9PM94_HUMAN UniProtKB/TrEMBL
  E9PPZ9_HUMAN UniProtKB/TrEMBL
  E9PQ31_HUMAN UniProtKB/TrEMBL
  GPAA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9NSS0 UniProtKB/Swiss-Prot
  Q9UQ31 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 GPAA1  glycosylphosphatidylinositol anchor attachment 1  GPAA1  glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)  Symbol and/or name change 5135510 APPROVED