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The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structur... See more...
Aliases for PPFIBP1 Gene
Aliases for PPFIBP1 Gene
External Ids for PPFIBP1 Gene
- HGNC: 9249
- Entrez Gene: 8496
- Ensembl: ENSG00000110841
- OMIM: 603141
- UniProtKB: Q86W92
Previous GeneCards Identifiers for PPFIBP1 Gene
- GC12P028049
- GC12P027700
- GC12P027577
- GC12P027568
- GC12P027677
- GC12P027445
Summaries for PPFIBP1 Gene
-
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
GeneCards Summary for PPFIBP1 Gene
PPFIBP1 (PPFIA Binding Protein 1) is a Protein Coding gene. Diseases associated with PPFIBP1 include Inflammatory Myofibroblastic Tumor and Fuchs' Endothelial Dystrophy. Among its related pathways are Neuroscience and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include integrase activity. An important paralog of this gene is PPFIBP2.
UniProtKB/Swiss-Prot Summary for PPFIBP1 Gene
-
May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.
Additional gene information for PPFIBP1 Gene
- HGNC(9249)
- Entrez Gene(8496)
- Ensembl(ENSG00000110841)
- OMIM(603141)
- UniProtKB(Q86W92)
- Open Targets Platform(ENSG00000110841)
- Monarch Initiative
- Search for PPFIBP1 at DataMed
- Search for PPFIBP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPFIBP1 Gene
Genomics for PPFIBP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PPFIBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPFIBP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPFIBP1
- Top Transcription factor binding sites by QIAGEN in the PPFIBP1 gene promoter:
-
- AML1a
- Cdc5
- p53
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- STAT5A
Genomic Locations for PPFIBP1 Gene
Genomic Locations for PPFIBP1 Gene
- chr12:27,523,431-27,695,564
- (GRCh38/hg38)
- Size:
- 172,134 bases
- Orientation:
- Plus strand
- chr12:27,676,364-27,848,497
- (GRCh37/hg19)
- Size:
- 172,134 bases
- Orientation:
- Plus strand
Genomic View for PPFIBP1 Gene
Genes around PPFIBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p11.23-p11.22 by HGNC
- 12p11.23-p11.22 by Entrez Gene
- 12p11.23 by Ensembl
PPFIBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PPFIBP1 Gene
Proteins for PPFIBP1 Gene
-
Protein details for PPFIBP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q86W92-LIPB1_HUMAN
- Recommended name:
- Liprin-beta-1
- Protein Accession:
- Q86W92
- O75336
- Q86X70
- Q9NY03
- Q9ULJ0
Protein attributes for PPFIBP1 Gene
- Size:
- 1011 amino acids
- Molecular mass:
- 114024 Da
- Quaternary structure:
-
- Forms homodimers and heterodimers. Interacts with S100A4 in a calcium-dependent mode.
- SequenceCaution:
-
- Sequence=AAH46159.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA86544.2; Type=Erroneous initiation; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 5]: Due to intron retention.
Protein Expression for PPFIBP1 Gene
Post-translational modifications for PPFIBP1 Gene
Other Protein References for PPFIBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006719222.1
- XP_016875545.1
- XP_016875546.1
- XP_016875547.1
- XP_016875548.1
- XP_016875550.1
- XP_016875551.1
- XP_016875552.1
- XP_016875553.1
- XP_016875554.1
- XP_016875555.1
- XP_016875556.1
- XP_016875557.1
- XP_016875558.1
- XP_016875559.1
- XP_016875560.1
- XP_016875561.1
- XP_016875562.1
- XP_016875563.1
- XP_016875564.1
- XP_016875565.1
- XP_016875567.1
- XP_024305000.1
- XP_024305001.1
- XP_024305002.1
- XP_024305003.1
- XP_024305004.1
- XP_024305005.1
- XP_024305006.1
- NP_001185844.1
- NP_001185845.2
- NP_003613.4
- NP_803193.3
Antibody Products
- G Biosciences Immunotag™ LIPB1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PPFIBP1
- Novus Biologicals Antibodies for PPFIBP1
-
Abcam antibodies for PPFIBP1
- Invitrogen Antibodies for PPFIBP1 (AFLGC-PPFIBP1)
-
Biorbyt antibodies for PPFIBP1
-
Boster Bio Antibodies for PPFIBP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPFIBP1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PPFIBP1
- Origene Custom Protein Services for PPFIBP1
- antibodies-online: Show 3 available PPFIBP1 Proteins ranked by validation data
- Compare Top PPFIBP1 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 4 available PPFIBP1 Elisa Kits ranked by validation data
- Compare Top PPFIBP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for PPFIBP1 Gene
Domains & Families for PPFIBP1 Gene
Gene Families for PPFIBP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PPFIBP1 Gene
- InterPro:
- Blocks:
-
- Sterile alpha motif SAM
- Sterile alpha motif homology 2
- ProtoNet:
Suggested Antigen Peptide Sequences for PPFIBP1 Gene
- GenScript: Design optimal peptide antigens:
-
- hSGT2 (LIPB1_HUMAN)
- PPFIBP1 protein (Q05CN4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q86W92UniProtKB/Swiss-Prot:
LIPB1_HUMAN :- The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4.
- Belongs to the liprin family. Liprin-beta subfamily.
- Domain:
-
- The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4.
- Family:
-
- Belongs to the liprin family. Liprin-beta subfamily.
Function for PPFIBP1 Gene
Molecular function for PPFIBP1 Gene
- UniProtKB/Swiss-Prot Function:
- May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.
Phenotypes From GWAS Catalog for PPFIBP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
| GO:0045296 | cadherin binding | HDA | 25468996 |
Phenotypes for PPFIBP1 Gene
- GenomeRNAi human phenotypes for PPFIBP1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PPFIBP1 - Select products 50% OFF >
- * PPFIBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PPFIBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPFIBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPFIBP1
miRNA for PPFIBP1 Gene
- miRTarBase miRNAs that target PPFIBP1
-
- mmu-miR-30e-5p (MIRT013368)
- hsa-miR-335-5p (MIRT017273)
- hsa-miR-155-5p (MIRT020577)
- hsa-miR-6818-3p (MIRT707445)
- hsa-miR-548aw (MIRT707446)
- hsa-miR-4684-5p (MIRT707447)
- hsa-miR-593-3p (MIRT707448)
- hsa-miR-6895-3p (MIRT707449)
- hsa-miR-1468-3p (MIRT707450)
- hsa-miR-548x-5p (MIRT707451)
- hsa-miR-548g-5p (MIRT707452)
- hsa-miR-548f-5p (MIRT707453)
- hsa-miR-548aj-5p (MIRT707454)
- hsa-miR-5699-3p (MIRT707455)
- hsa-miR-4421 (MIRT707456)
- hsa-miR-339-5p (MIRT707457)
- hsa-miR-10b-5p (MIRT707458)
- hsa-miR-10a-5p (MIRT707459)
- hsa-miR-6732-3p (MIRT707460)
- hsa-miR-548c-3p (MIRT707461)
- hsa-miR-125b-2-3p (MIRT761679)
- hsa-miR-1273h-5p (MIRT762064)
- hsa-miR-1288-5p (MIRT762264)
- hsa-miR-149-3p (MIRT762810)
- hsa-miR-196a-3p (MIRT763507)
- hsa-miR-30b-3p (MIRT764602)
- hsa-miR-30c-1-3p (MIRT764665)
- hsa-miR-30c-2-3p (MIRT764710)
- hsa-miR-3122 (MIRT764813)
- hsa-miR-3197 (MIRT765493)
- hsa-miR-340-3p (MIRT765732)
- hsa-miR-3613-3p (MIRT765998)
- hsa-miR-3689a-3p (MIRT766830)
- hsa-miR-3689b-3p (MIRT766918)
- hsa-miR-3689c (MIRT767006)
- hsa-miR-371a-5p (MIRT767175)
- hsa-miR-371b-5p (MIRT767213)
- hsa-miR-372-5p (MIRT767258)
- hsa-miR-373-5p (MIRT767304)
- hsa-miR-3913-5p (MIRT767617)
- hsa-miR-3929 (MIRT767791)
- hsa-miR-3974 (MIRT767896)
- hsa-miR-4419b (MIRT768787)
- hsa-miR-4432 (MIRT768972)
- hsa-miR-4433a-3p (MIRT769029)
- hsa-miR-4444 (MIRT769165)
- hsa-miR-4457 (MIRT769212)
- hsa-miR-4459 (MIRT769318)
- hsa-miR-4478 (MIRT769538)
- hsa-miR-450a-1-3p (MIRT769852)
- hsa-miR-451b (MIRT769955)
- hsa-miR-4649-3p (MIRT770654)
- hsa-miR-4696 (MIRT771261)
- hsa-miR-4728-5p (MIRT771726)
- hsa-miR-4768-3p (MIRT772118)
- hsa-miR-485-5p (MIRT772631)
- hsa-miR-513b-5p (MIRT773401)
- hsa-miR-6087 (MIRT775687)
- hsa-miR-616-5p (MIRT776015)
- hsa-miR-624-3p (MIRT776096)
- hsa-miR-6501-3p (MIRT776506)
- hsa-miR-6513-5p (MIRT777003)
- hsa-miR-665 (MIRT777593)
- hsa-miR-6765-5p (MIRT778543)
- hsa-miR-6779-5p (MIRT778908)
- hsa-miR-6780a-5p (MIRT778998)
- hsa-miR-6785-5p (MIRT779136)
- hsa-miR-6788-5p (MIRT779242)
- hsa-miR-6799-5p (MIRT779435)
- hsa-miR-6827-3p (MIRT779930)
- hsa-miR-6883-5p (MIRT780932)
- hsa-miR-6884-5p (MIRT781019)
- hsa-miR-7106-5p (MIRT781367)
- hsa-miR-7112-5p (MIRT781455)
- hsa-miR-7160-5p (MIRT781625)
- hsa-miR-887-5p (MIRT782563)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPFIBP1
- Browse OriGene Inhibitory RNA Products For PPFIBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPFIBP1
Clone Products
- Applied Biological Materials (abm): Clones for PPFIBP1 - Select products 50% OFF >
- * PPFIBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215773
- MG217335
- MR215773
- MR215773L3
- MR215773L4
- MR217335
- MR217335L3
- MR217335L4
- RC211655
- RC211655L3
- RC211655L4
- RC220285
- RC220285L1
- RC220285L2
- RC220285L3
- RC220285L4
- RC230882
- RC230882L3
- RC230882L4
- RC231452
- RC231452L3
- RC231452L4
- RG211655
- RG220285
- RG230882
- RG231452
- RR210581
- RR210581L3
- RR210581L4
- MR215773L3V
- MR215773L4V
- MR217335L3V
- MR217335L4V
- RC211655L3V
- RC211655L4V
- RC220285L1V
- RC220285L2V
- RC220285L3V
- RC220285L4V
- RC230882L3V
- RC230882L4V
- RC231452L3V
- RC231452L4V
- RR210581L3V
- RR210581L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PPFIBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPFIBP1
Cell Line Products
-
Horizon Cell Lines for PPFIBP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPFIBP1 Gene
Localization for PPFIBP1 Gene
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| extracellular | 1 |
| lysosome | 1 |
- Cytosol (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | NAS | 9624153 |
| GO:0005925 | focal adhesion | HDA | 21423176 |
| GO:0048786 | presynaptic active zone | IBA | 21873635 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PPFIBP1 Gene
Pathways & Interactions for PPFIBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Adhesion |
-
|
|
| 2 | Glucose / Energy Metabolism | ||
| 3 | Neuroscience | ||
Pathways by source for PPFIBP1 Gene
3 Cell Signaling Technology pathways for PPFIBP1 Gene
Interacting Proteins for PPFIBP1 Gene
Selected Interacting proteins:
Q86W92-LIPB1_HUMAN
ENSP00000314724
for PPFIBP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PPFIBP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | TAS | 9624153 |
| GO:0007528 | neuromuscular junction development | IBA | 21873635 |
| GO:0050808 | synapse organization | IBA | 21873635 |
No data available for SIGNOR curated interactions for PPFIBP1 Gene
Drugs & Compounds for PPFIBP1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | 6556 |
Transcripts for PPFIBP1 Gene
mRNA/cDNA for PPFIBP1 Gene
- 4 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000228425 5983 nts (view in UCSC)
- ENST00000318304 6001 nts (view in UCSC)
- ENST00000534917 937 nts (view in UCSC)
- ENST00000535047 875 nts (view in UCSC)
- ENST00000535575 559 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PPFIBP1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PPFIBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPFIBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPFIBP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPFIBP1
- Browse OriGene Inhibitory RNA Products For PPFIBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPFIBP1
Clone Products
- Applied Biological Materials (abm): Clones for PPFIBP1 - Select products 50% OFF >
- * PPFIBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG215773
- MG217335
- MR215773
- MR215773L3
- MR215773L4
- MR217335
- MR217335L3
- MR217335L4
- RC211655
- RC211655L3
- RC211655L4
- RC220285
- RC220285L1
- RC220285L2
- RC220285L3
- RC220285L4
- RC230882
- RC230882L3
- RC230882L4
- RC231452
- RC231452L3
- RC231452L4
- RG211655
- RG220285
- RG230882
- RG231452
- RR210581
- RR210581L3
- RR210581L4
- MR215773L3V
- MR215773L4V
- MR217335L3V
- MR217335L4V
- RC211655L3V
- RC211655L4V
- RC220285L1V
- RC220285L2V
- RC220285L3V
- RC220285L4V
- RC230882L3V
- RC230882L4V
- RC231452L3V
- RC231452L4V
- RR210581L3V
- RR210581L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PPFIBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPFIBP1
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: |
| ExUns: | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b | · | 21c | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | · | 25c | ^ | 26a | · | 26b | ^ | 27 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||
| SP15: |
Relevant External Links for PPFIBP1 Gene
- GeneLoc Exon Structure for
- PPFIBP1
Expression for PPFIBP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
- Brain (Nervous System)
-
Placenta (Extraembryonic Tissues)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for PPFIBP1 Gene
This gene is overexpressed in Heart - Left Ventricle (x4.6).
This gene is overexpressed in Bone (27.8), Ovary (7.2), and Pancreas (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPFIBP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPFIBP1
SOURCE GeneReport for Unigene cluster for PPFIBP1 Gene:
Hs.172445mRNA Expression by UniProt/SwissProt for PPFIBP1 Gene:
Q86W92-LIPB1_HUMAN
Tissue specificity:
Widely expressed. Absent in liver.
Evidence on tissue expression from TISSUES for PPFIBP1 Gene
- Nervous system(4.6)
- Skin(4.4)
- Liver(4.4)
- Heart(2.8)
- Kidney(2.4)
- Muscle(2.3)
- Spleen(2.1)
Primer Products
-
OriGene qPCR primer pairs for PPFIBP1
-
OriGene qPCR primer pairs and template standards for PPFIBP1
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPFIBP1 Gene
Orthologs for PPFIBP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PPFIBP1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PPFIBP1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PPFIBP1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PPFIBP1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ppfibp1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ppfibp1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PPFIBP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PPFIBP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PPFIBP1 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398525 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | PPFIBP1 (1 of 2) 31 |
|
OneToMany | |
| ppfibp1 30 |
|
||||
| PPFIBP1 (2 of 2) 31 |
|
OneToMany | |||
| Dr.15202 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10751 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010342 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Liprin-beta 30 31 |
|
OneToMany | |
| CG10743 32 |
|
|
|||
| CG11206 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | hlb-1 30 31 |
|
OneToMany | |
| T21H8.1 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PPFIBP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for PPFIBP1 Gene
- ENSEMBL:
- Gene Tree for PPFIBP1 (if available)
- TreeFam:
- Gene Tree for PPFIBP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPFIBP1: view image
Paralogs for PPFIBP1 Gene
(5) SIMAP similar genes for PPFIBP1 Gene using alignment to 9 proteins:
- LIPB1_HUMAN
- F5GZP6_HUMAN
- F5H0E0_HUMAN
- F5H495_HUMAN
- F5H6Q7_HUMAN
- F5H7K5_HUMAN
- H0YFE4_HUMAN
- H0YGH8_HUMAN
- Q05CN4_HUMAN
Pseudogenes.org Pseudogenes for PPFIBP1 Gene
Variants for PPFIBP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPFIBP1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs2194816 | - | p.Val148Leu |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1406n100 | CNV | gain | 25217958 |
| dgv189n27 | CNV | gain | 19166990 |
| dgv2417n54 | CNV | gain | 21841781 |
| dgv2420n54 | CNV | gain | 21841781 |
| dgv271e199 | CNV | deletion | 23128226 |
| dgv7e197 | CNV | deletion | 19546169 |
| esv2168060 | CNV | deletion | 18987734 |
| esv25573 | CNV | loss | 19812545 |
| esv2658186 | CNV | deletion | 23128226 |
| esv2745664 | CNV | deletion | 23290073 |
| esv2745669 | CNV | deletion | 23290073 |
| esv2745670 | CNV | deletion | 23290073 |
| esv3365278 | CNV | duplication | 20981092 |
| esv3628940 | CNV | gain | 21293372 |
| esv3628943 | CNV | gain | 21293372 |
| esv3628944 | CNV | loss | 21293372 |
| esv3892167 | CNV | gain | 25118596 |
| esv5097 | CNV | loss | 18987735 |
| nsv436825 | CNV | insertion | 17901297 |
| nsv470280 | CNV | gain | 18288195 |
| nsv520981 | CNV | loss | 19592680 |
| nsv521002 | CNV | loss | 19592680 |
| nsv521872 | CNV | gain | 19592680 |
| nsv557822 | CNV | loss | 21841781 |
| nsv832358 | CNV | gain | 17160897 |
| nsv957282 | CNV | deletion | 24416366 |
| nsv976589 | CNV | duplication | 23825009 |
| nsv976590 | CNV | duplication | 23825009 |
| nsv976591 | CNV | duplication | 23825009 |
| nsv976592 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.25;
62.44% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPFIBP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PPFIBP1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPFIBP1 Gene
Disorders for PPFIBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| inflammatory myofibroblastic tumor |
|
|
| fuchs' endothelial dystrophy |
|
|
Search PPFIBP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPFIBP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PPFIBP1 Gene
Publications for PPFIBP1 Gene
- Liprin beta 1, a member of the family of LAR transmembrane tyrosine phosphatase-interacting proteins, is a new target for the metastasis-associated protein S100A4 (Mts1). (PMID: 11836260) Kriajevska M … Lukanidin E (The Journal of biological chemistry 2002) 2 3 4 23
- Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins. (PMID: 9624153) Serra-Pagès C … Streuli M (The Journal of biological chemistry 1998) 2 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for PPFIBP1 Gene
- Custom Antibody ServicesOriGene Antibodies for PPFIBP1
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- RC231452L3V
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- RR210581L3V
- RR210581L4V
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- antibodies-online: Show 15 available PPFIBP1 Antibodies ranked by validation data
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for PPFIBP1
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- Horizon Cell Lines for PPFIBP1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPFIBP1
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Sources for PPFIBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
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- (122) ENCODE
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- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (170) snOPY
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- (172) GENCODE
- (173) TarBase
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- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB