Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | AFAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | AFAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. | Gharahkhani P, etal., Nat Genet. 2014 Oct;46(10):1120-1125. doi: 10.1038/ng.3079. Epub 2014 Aug 31. |
3. | Molecular cloning of actin filament-associated protein: a putative adaptor in stretch-induced Src activation. | Lodyga M, etal., Am J Physiol Lung Cell Mol Physiol 2002 Aug;283(2):L265-74. |
4. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Afap1 (Rattus norvegicus - Norway rat) |
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AFAP1 (Homo sapiens - human) |
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Afap1 (Mus musculus - house mouse) |
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Afap1 (Chinchilla lanigera - long-tailed chinchilla) |
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AFAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AFAP1 (Canis lupus familiaris - dog) |
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Afap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AFAP1 (Sus scrofa - pig) |
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AFAP1 (Chlorocebus sabaeus - green monkey) |
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Afap1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Afap1
662 total Variants |
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 |
BE119858 |
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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 | appendage | |
High | |||||||||||||
Medium | 1 | 32 | 2 | 2 | 2 | 2 | 66 | 22 | 38 | 7 | |||
Low | 2 | 11 | 54 | 38 | 17 | 38 | 8 | 11 | 8 | 13 | 3 | 4 | 8 |
Below cutoff | 1 | 1 | 1 |
RefSeq Transcripts | NM_080900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008770245 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008770247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091573 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063272812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063272813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063272815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AY063759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000089006 ⟹ ENSRNOP00000069806 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000090597 ⟹ ENSRNOP00000069497 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000116217 ⟹ ENSRNOP00000078869 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000117533 ⟹ ENSRNOP00000095531 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_080900 ⟹ NP_543176 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008770245 ⟹ XP_008768467 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008770247 ⟹ XP_008768469 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017599057 ⟹ XP_017454546 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039091572 ⟹ XP_038947500 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039091573 ⟹ XP_038947501 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063272812 ⟹ XP_063128882 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063272813 ⟹ XP_063128883 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063272815 ⟹ XP_063128885 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_543176 | (Get FASTA) | NCBI Sequence Viewer |
XP_008768467 | (Get FASTA) | NCBI Sequence Viewer | |
XP_008768469 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017454546 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947500 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947501 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063128882 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063128883 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063128885 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAL38984 | (Get FASTA) | NCBI Sequence Viewer |
EDM00052 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000069497 | ||
ENSRNOP00000069497.2 | |||
ENSRNOP00000069806 | |||
ENSRNOP00000069806.2 | |||
ENSRNOP00000078869.1 | |||
ENSRNOP00000095531 | |||
ENSRNOP00000095531.1 | |||
GenBank Protein | Q8VH46 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_543176 ⟸ NM_080900 |
- UniProtKB: | Q8VH46 (UniProtKB/Swiss-Prot), A0A0G2JVI5 (UniProtKB/TrEMBL), A6IJY7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008768469 ⟸ XM_008770247 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q8VH46 (UniProtKB/Swiss-Prot), A0A8I6ALM6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008768467 ⟸ XM_008770245 |
- Peptide Label: | isoform X7 |
- UniProtKB: | Q8VH46 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_017454546 ⟸ XM_017599057 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q8VH46 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000069806 ⟸ ENSRNOT00000089006 |
RefSeq Acc Id: | ENSRNOP00000069497 ⟸ ENSRNOT00000090597 |
RefSeq Acc Id: | XP_038947500 ⟸ XM_039091572 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q8VH46 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038947501 ⟸ XM_039091573 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q8VH46 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | ENSRNOP00000078869 ⟸ ENSRNOT00000116217 |
RefSeq Acc Id: | ENSRNOP00000095531 ⟸ ENSRNOT00000117533 |
RefSeq Acc Id: | XP_063128882 ⟸ XM_063272812 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_063128883 ⟸ XM_063272813 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_063128885 ⟸ XM_063272815 |
- Peptide Label: | isoform X8 |
- UniProtKB: | G3V6Z3 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8VH46-F1-model_v2 | AlphaFold | Q8VH46 | 1-731 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:619959 | AgrOrtholog |
BioCyc Gene | G2FUF-15330 | BioCyc |
Ensembl Genes | ENSRNOG00000060665 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000089006.2 | UniProtKB/TrEMBL |
ENSRNOT00000090597 | ENTREZGENE | |
ENSRNOT00000090597.2 | UniProtKB/TrEMBL | |
ENSRNOT00000116217.1 | UniProtKB/TrEMBL | |
ENSRNOT00000117533.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | AFAP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PH-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PH_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:140935 | UniProtKB/Swiss-Prot |
NCBI Gene | 140935 | ENTREZGENE |
PANTHER | PTHR14338 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR14338:SF8 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | PF00169 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Afap1 | PhenoGen |
PROSITE | PH_DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000060665 | RatGTEx |
SMART | SM00233 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | PH domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0G2JVI5 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZLQ6_RAT | UniProtKB/TrEMBL | |
A0A8I6ALM6 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IJY7 | ENTREZGENE, UniProtKB/TrEMBL | |
AFAP1_RAT | UniProtKB/Swiss-Prot | |
G3V6Z3 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8VH46 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-02-22 | Afap1 | actin filament associated protein 1 | Afap | actin filament associated protein | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-01-20 | Afap | actin filament associated protein | Symbol and Name status set to approved | 1299863 | APPROVED |
Note Type | Note | Reference |
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gene_cellular_localization | colocalizes with actin filaments in epithelial cells and fibroblasts | 625602 |
gene_domains | Src SH2 and Src SH3 domains are conserved | 625602 |
gene_expression | expressed in fetal rat lung | 625602 |
gene_expression | mRNA present in the brain intestine and kidney | 625602 |