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Molecular Function
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | axo-dendritic transport | | TAS | | 2290271 | (PMID:9822620) | PINC | PMID:9822620 | cell adhesion | | TAS | | 2290271 | (PMID:9753324) | PINC | PMID:9753324 | chemical synaptic transmission | | IBA | MGI:MGI:1261791 more ... | 2290271 | (PMID:21873635) | GO_Central | PMID:21873635 | chemical synaptic transmission | | IEA | InterPro:IPR030530 | 2290271 | | InterPro | GO_REF:0000002 | gamma-aminobutyric acid secretion | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | glutamate secretion | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | in utero embryonic development | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | intracellular protein transport | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | locomotory behavior | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | multicellular organism growth | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | nervous system development | | TAS | | 2290271 | (PMID:9753324) | PINC | PMID:9753324 | neurotransmitter secretion | | TAS | | 2290271 | | Reactome | Reactome:R-HSA-112310 | protein-containing complex assembly | | IEA | InterPro:IPR030530 | 2290271 | | InterPro | GO_REF:0000002 | regulation of gene expression | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | regulation of synaptic vesicle exocytosis | | IEA | UniProtKB:B2RUJ5, ensembl:ENSMUSP00000025830 | 2290271 | | Ensembl | GO_REF:0000107 | |
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1. | GOA_HUMAN data from the GO Consortium |
2. | KEGG |
3. | Online Mendelian Inheritance in Man, OMIM (TM). |
4. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 1968060 7545337 7678331 7719031 8887653 9321393 9395480 9585438 9614075 9753324 9822620 9952408 10455105 11010978 11036064 11083918 11115513 12006486 12016213 12093160 12177192 12196555 12514209 12842896 12849748 12970358 14756819 14960569 14970211 15024025 15164053 15563604 15699037 16007100 16344560 16413130 18836734 19720620 20016085 20160714 20379614 20468060 20531236 21178287 21763699 21873635 22355143 23737971 24742670 26186194 26865271 26972000 28514442 |
APBA1 (Homo sapiens - human) |
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Apba1 (Mus musculus - house mouse) |
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Apba1 (Rattus norvegicus - Norway rat) |
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Apba1 (Chinchilla lanigera - long-tailed chinchilla) |
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APBA1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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APBA1 (Canis lupus familiaris - dog) |
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Apba1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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APBA1 (Sus scrofa - pig) |
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D9S2022 |
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RH93021 |
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SHGC-83193 |
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D9S411E |
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D9S327 |
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D9S1754 |
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SHGC-141873 |
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SHGC-148287 |
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WI-17743 |
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AB047613 |
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RH48024 |
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D9S1154 |
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RH17597 |
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G15857 |
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WI-16198 |
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APBA1__4338 |
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D9S411E |
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D9S411E |
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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. |
RefSeq Transcripts | NM_001163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005251968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011518617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017014670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC208386 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF029106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF047347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL162412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL162421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL353693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL355140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL713639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF435835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ269294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA179202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA313538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L04953 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Z32676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001163 ⟹ NP_001154 | |||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGGTCCGAGCAGCGGCTGCGGAGCCGGAGCTGGGCGAGGGCGGCTGCGGTCCCGGCGGCGGCGGhide sequence |
RefSeq Acc Id: | XM_005251968 ⟹ XP_005252025 | ||||||||||||||
RefSeq Status: | |||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
GGGGAAAGGGGGTGGGGCCGCGAGACCGGAGGGGTCCGAGCAGCGGCTGCGGAGCCGGAGCTGGhide sequence |
RefSeq Acc Id: | XM_011518617 ⟹ XP_011516919 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
TCCGGAGACGCCGTCAATCTCCGAATTTGAAGCGCAGGCGATATCTAAGGGGCCTGGGAAGCGGhide sequence |
RefSeq Acc Id: | XM_017014670 ⟹ XP_016870159 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
GCATTTCCCTATGCATATTAAATGTTCTCAGAAAACATACATTTTAATGGCTATTTTTATAGAGhide sequence |
Protein RefSeqs | NP_001154 | (Get FASTA) | NCBI Sequence Viewer |
XP_005252025 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011516919 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016870159 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA61307 | (Get FASTA) | NCBI Sequence Viewer |
AAC05304 | (Get FASTA) | NCBI Sequence Viewer | |
AAC39766 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62486 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62487 | (Get FASTA) | NCBI Sequence Viewer | |
Q02410 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001154 ⟸ NM_001163 |
- UniProtKB: | Q02410 (UniProtKB/Swiss-Prot) |
- Sequence: |
MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDLRAQLhide sequence |
RefSeq Acc Id: | XP_005252025 ⟸ XM_005251968 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q02410 (UniProtKB/Swiss-Prot) |
- Sequence: |
MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDLRAQLhide sequence |
RefSeq Acc Id: | XP_011516919 ⟸ XM_011518617 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q02410 (UniProtKB/Swiss-Prot) |
- Sequence: |
MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDLRAQLhide sequence |
RefSeq Acc Id: | XP_016870159 ⟸ XM_017014670 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q02410 (UniProtKB/Swiss-Prot) |
- Sequence: |
MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDLRAQLhide sequence |
RGD ID: | 7215215 | |||||||||
Promoter ID: | EPDNEW_H13354 | |||||||||
Type: | single initiation site | |||||||||
Name: | APBA1_2 | |||||||||
Description: | amyloid beta precursor protein binding family A member 1 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 7215217 | |||||||||
Promoter ID: | EPDNEW_H13355 | |||||||||
Type: | initiation region | |||||||||
Name: | APBA1_1 | |||||||||
Description: | amyloid beta precursor protein binding family A member 1 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
Position: |
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RGD ID: | 6814426 | |||||||||
Promoter ID: | HG_MGC:985 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell | |||||||||
Transcripts: | BC157030 | |||||||||
Position: |
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RGD ID: | 6807242 | |||||||||
Promoter ID: | HG_KWN:63607 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | |||||||||
Transcripts: | NM_001163 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 | copy number loss | Nonsyndromic microcephaly [RCV000052904]|See cases [RCV000052904] | Chr9:68426796..69606104 [GRCh38] Chr9:71130848..72221020 [GRCh37] Chr9:70231532..71410840 [NCBI36] Chr9:9q21.11-21.12 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 | copy number loss | See cases [RCV000133632] | Chr9:68454847..76252863 [GRCh38] Chr9:71130848..78867779 [GRCh37] Chr9:70259583..78057599 [NCBI36] Chr9:9q21.11-21.13 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 | copy number loss | See cases [RCV000137529] | Chr9:68420349..70939579 [GRCh38] Chr9:71130848..73554495 [GRCh37] Chr9:70225085..72744315 [NCBI36] Chr9:9q21.11-21.12 |
likely pathogenic |
GRCh38/hg38 9q21.11-21.12(chr9:69060538-69564402)x3 | copy number gain | See cases [RCV000137473] | Chr9:69060538..69564402 [GRCh38] Chr9:71675454..72179318 [GRCh37] Chr9:70865274..71369138 [NCBI36] Chr9:9q21.11-21.12 |
likely benign |
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 | copy number loss | See cases [RCV000137963] | Chr9:68499530..83670227 [GRCh38] Chr9:71130848..86285142 [GRCh37] Chr9:70304266..85474962 [NCBI36] Chr9:9q21.11-21.32 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 | copy number gain | See cases [RCV000143753] | Chr9:68624483..72028837 [GRCh38] Chr9:71239399..74643753 [GRCh37] Chr9:70429219..73833573 [NCBI36] Chr9:9q21.11-21.13 |
likely pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
Single allele | deletion | Small for gestational age [RCV000161571] | Chr9:69485202..69500795 [GRCh38] Chr9:72100118..72115711 [GRCh37] Chr9:9q21.12 |
not provided |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-21.12(chr9:71907529-72265504)x3 | copy number gain | See cases [RCV000446279] | Chr9:71907529..72265504 [GRCh37] Chr9:9q21.11-21.12 |
likely benign |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 | copy number loss | See cases [RCV000511817] | Chr9:71079379..75905808 [GRCh37] Chr9:9q21.11-21.13 |
likely pathogenic |
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 | copy number gain | See cases [RCV000510725] | Chr9:68734571..83557267 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | copy number gain | See cases [RCV000512280] | Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11(chr9:71959778-72185751)x3 | copy number gain | not provided [RCV000683098] | Chr9:71959778..72185751 [GRCh37] Chr9:9q21.11 |
likely benign |
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 | copy number loss | not provided [RCV000683169] | Chr9:68999534..84656998 [GRCh37] Chr9:9q21.11-21.32 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
Single allele | complex | Glioma [RCV000754871] | Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 | copy number loss | not provided [RCV000748447] | Chr9:68838523..83340723 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11(chr9:72027641-72048098)x3 | copy number gain | not provided [RCV000748461] | Chr9:72027641..72048098 [GRCh37] Chr9:9q21.11 |
benign |
GRCh37/hg19 9q21.11(chr9:72100118-72116806)x1 | copy number loss | not provided [RCV000748462] | Chr9:72100118..72116806 [GRCh37] Chr9:9q21.11 |
benign |
GRCh37/hg19 9q21.11(chr9:72100118-72132199)x1 | copy number loss | not provided [RCV000748463] | Chr9:72100118..72132199 [GRCh37] Chr9:9q21.11 |
benign |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11(chr9:71910953-72118434)x3 | copy number gain | not provided [RCV000846190] | Chr9:71910953..72118434 [GRCh37] Chr9:9q21.11 |
uncertain significance |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q21.11(chr9:71965068-72187141)x3 | copy number gain | not provided [RCV000849350] | Chr9:71965068..72187141 [GRCh37] Chr9:9q21.11 |
uncertain significance |
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 | copy number loss | not provided [RCV000846367] | Chr9:70974661..81829792 [GRCh37] Chr9:9q21.11-21.31 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:578 | AgrOrtholog |
COSMIC | APBA1 | COSMIC |
Ensembl Genes | ENSG00000107282 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000276497 | UniProtKB/TrEMBL | |
Ensembl Protein | ENSP00000265381 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000479031 | UniProtKB/TrEMBL | |
ENSP00000486435 | UniProtKB/TrEMBL | |
ENSP00000486873 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000265381 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000470082 | UniProtKB/TrEMBL | |
ENST00000617471 | UniProtKB/TrEMBL | |
ENST00000620509 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000107282 | GTEx |
ENSG00000276497 | GTEx | |
HGNC ID | HGNC:578 | ENTREZGENE |
Human Proteome Map | APBA1 | Human Proteome Map |
InterPro | Apba1 | UniProtKB/Swiss-Prot |
PDZ | UniProtKB/Swiss-Prot | |
PDZ_sf | UniProtKB/Swiss-Prot | |
PH-like_dom_sf | UniProtKB/Swiss-Prot | |
PTB/PI_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:320 | UniProtKB/Swiss-Prot |
NCBI Gene | 320 | ENTREZGENE |
OMIM | 602414 | OMIM |
PANTHER | PTHR12345:SF14 | UniProtKB/Swiss-Prot |
Pfam | PDZ | UniProtKB/Swiss-Prot |
PID | UniProtKB/Swiss-Prot | |
PharmGKB | PA24869 | PharmGKB |
PROSITE | PDZ | UniProtKB/Swiss-Prot |
PID | UniProtKB/Swiss-Prot | |
SMART | PDZ | UniProtKB/Swiss-Prot |
PTB | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF50156 | UniProtKB/Swiss-Prot |
UniGene | Hs.171939 | ENTREZGENE |
Hs.592974 | ENTREZGENE | |
UniProt | A0A0D9SFA9_HUMAN | UniProtKB/TrEMBL |
A0A0G2JMD7_HUMAN | UniProtKB/TrEMBL | |
APBA1_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | O14914 | UniProtKB/Swiss-Prot |
O60570 | UniProtKB/Swiss-Prot | |
Q5VYR8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-01-26 | APBA1 | amyloid beta precursor protein binding family A member 1 | amyloid beta (A4) precursor protein-binding, family A, member 1 | Symbol and/or name change | 5135510 | APPROVED | |
2011-08-16 | APBA1 | amyloid beta (A4) precursor protein-binding, family A, member 1 | APBA1 | amyloid beta (A4) precursor protein-binding, family A, member 1 | Symbol and/or name change | 5135510 | APPROVED |
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More on APBA1 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
RGD Object Information | |
RGD ID: | 732461 |
Created: | 2004-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.