AFAP1L1 Gene
protein-coding GIFtS: 45
GCID: GC05P148632
|
|
actin filament associated protein 1-like 1
| |
Aliases
for AFAP1L1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Actin Filament Associated Protein 1-Like 11 2 | | AFAP1-Like Protein 12 3 | | FLJ367481 | | Actin Filament-Associated Protein 1-Like 12 |
Export aliases for AFAP1L1 gene to outside databasesPrevious GC identifer: GC05P143797 |
Summaries
for AFAP1L1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: AF1L1_HUMAN, Q8TED9Function: May be involved in podosome and invadosome formation
|
Genomic Views
for AFAP1L1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_029289.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AFAP1L1 gene promoter:
Sox5 FOXD3 FOXO3 GATA-1 FOXO3b AREB6 FOXO3a aMEF-2 ITF-2 MRF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for AFAP1L1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFAP1L1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q32 HGNC cytogenetic band: 5q33.1AFAP1L1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P148632: view genomic region
(about GC identifiers)
Start:
|
148,651,401 bp from pter |
End:
|
148,721,368 bp from pter |
Size:
|
69,968 bases |
Orientation:
|
plus strand |
|
Proteins
for AFAP1L1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AF1L1_HUMAN, Q8TED9 (See
protein sequence)Recommended Name: Actin filament-associated protein 1-like 1 Size: 768 amino acids; 86432 Da
Subunit: Interacts with CTTN
Subcellular location: Cytoplasm. Cell projection, podosome. Cell projection, invadopodium. Note=In the cytosol,associated with actin stress fibers
Sequence caution: Sequence=BAB85011.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q08AN4 Q08AN5 Q8IW82 Q8N8Z5 Q8N9Q4Alternative splicing: 4 isoforms: Q8TED9-1 Q8TED9-2 Q8TED9-3 Q8TED9-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for AFAP1L1: NX_Q8TED9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TED9
AFAP1L1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001139809.1 NP_689619.1
ENSEMBL proteins: ENSP00000296721 ENSP00000424427
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
AFAP1L1 for ontologies About GeneDecksing
AFAP1L1 Antibody Products:
Assay Products for AFAP1L1: |
Protein
Domains /
Families
for AFAP1L1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AFAP1L1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8TED9ProtoNet protein and cluster: Q8TED9 1 Blocks protein family: IPB001849 Pleckstrin-like
UniProtKB/Swiss-Prot: AF1L1_HUMAN, Q8TED9Similarity: Contains 2 PH domains |
Function
for AFAP1L1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AF1L1_HUMAN, Q8TED9Function: May be involved in podosome and invadosome formation
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFAP1L1 (see all 2)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFAP1L1 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- | | GO:0005543 | phospholipid binding |
IEA | -- |
AFAP1L1 for ontologies About GeneDecksing
|
Pathways & Interactions
for AFAP1L1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFAP1L1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
5/12 Interacting proteins for AFAP1L1 (Q8TED93 ENSP000002967214) via UniProtKB, MINT, STRING, and/or I2D (see all 12)About this table
|
Drugs & Compounds
for AFAP1L1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AFAP1L1
Search CenterWatch for drugs/clinical trials and news about AFAP1L1 / AF1L1
|
Transcripts
for AFAP1L1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AFAP1L1 gene (2 alternative transcripts): NM_001146337.1 NM_152406.2 Unigene Cluster for AFAP1L1: Actin filament associated protein 1-like 1 Hs.483793 [show with all ESTs]Unigene Representative Sequence: NM_1524066 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000455574(uc003lqg.4) ENST00000296721(uc003lqh.3 uc010jgy.3)
ENST00000522492 ENST00000515000 ENST00000508444 ENST00000513665(uc003lqi.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AFAP1L1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AFAP1L1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): AFAP1L1 (NM_152406) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AK074185.1 AK094067.1 AK095980.1 BC040723.2 BC125093.1 BC125094.1 6 DOTS entries: DT.412815 DT.99927335 DT.100783159 DT.97793717 DT.92420971 DT.100696556 24/86 AceView cDNA sequences (see all 86): AA987419 CD243869 BU580889 BX336541 AA558591 AK074185 BM998635 AW449530 AW298600 BC040723 CA431274 BX283094 AW264386 AI361078 BE542632 AW848132 BI820235 AA405614 AI648489 AW264261 BQ669575 AL709436 BQ670664 AI436777
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for AFAP1L1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | - | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AFAP1L1
|
Expression
for AFAP1L1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AFAP1L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGTGCTAAAC
About this image
See AFAP1L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AFAP1L1
SOURCE GeneReport for Unigene cluster: Hs.483793
UniProtKB/Swiss-Prot: AF1L1_HUMAN, Q8TED9Tissue specificity: Expressed in breast, colon and brain. In all 3 tissues, expressed in the microvasculature (atprotein level). In addition, in the breast, found in the contractile myoepithelial cell layer which surrounds thebreast ducts (at protein level). In the colon, expressed in the mucous membrane and colonic crypts and in the smoothmuscle cell layer which provide movement of the colon (at protein level). In the cerebellum, localized around thePurkinje neurons and the granule cells of the granular layer, but not inside cell bodies (at protein level). Outsideof the cerebellar cortex, expressed in glial cells (at protein level). Highly expressed away from the cell bodieswithin the dentate nucleus (at protein level)
SABiosciences Custom PCR Arrays for AFAP1L1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AFAP1L1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFAP1L1 |
Orthologs
for AFAP1L1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for AFAP1L1 gene from 4/9 species (see all 9) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Afap1l11 , 5 |
actin filament associated protein 1-like 11, 5 |
86.74(n)1
89.05(a)1 |
|
18 (34.71 cM)5
1068771 NM_178928.41 NP_849259.21
617302615 |
chicken
(Gallus gallus) |
Aves |
AFAP1L11 |
actin filament associated protein 1-like 1 |
73.98(n)
71.67(a) |
|
427621 XM_425193.3 XP_425193.2 |
lizard
(Anolis carolinensis) |
Reptilia |
AFAP1L16 |
-- |
68(a) |
1 ↔ 1 |
2(122793298-122827097) |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.162642 |
Transcribed sequence with weak similarity to protein more |
75.41(n) |
|
BM957795.1 |
ENSEMBL Gene Tree for AFAP1L1 (if available)
TreeFam Gene Tree for AFAP1L1 (if available) |
Paralogs
for AFAP1L1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AFAP1L1 gene
- AFAP1L22 AFAP12
1 SIMAP similar gene for AFAP1L1 using alignment to 1 protein entry: AF1L1_HUMAN:AFAP1
AFAP1L1 for paralogs About GeneDecksing
|
Genomic Variants
for AFAP1L1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AFAP1L1 (148651401 - 148721368 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AFAP1L1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AFAP1L1 |
|
Disorders
/ Diseases
for AFAP1L1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AFAP1L1 for disorders About GeneDecksing
OMIM gene information: 614410
OMIM disorders: --
3  diseases for AFAP1L1: About MalaCardsspindle cell sarcoma sarcoma neuronitis
Export disorders for AFAP1L1 gene to outside databases
|
Publications
for AFAP1L1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AFAP1L1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with AFAP1L1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- AFAP1L1 is a novel adaptor protein of the AFAP family that interacts with cortactin and localizes to invadosomes. (PubMed id 21333378)1, 2 Snyder B.N....Cunnick J.M. (2011)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Identification of AFAP1L1 as a prognostic marker for spindle cell sarcomas. (PubMed id 21516130)1 Furu M....Toguchida J. (2011)
- Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)2 Jikuya H....Ohara O. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for AFAP1L1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AFAP1L1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AFAP1L1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AFAP1L1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AFAP1L1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AFAP1L1 gene:
Search GeneIP for patents involving AFAP1L1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AFAP1L1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 | | | AFAP1L1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFAP1L1 |
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