Aliases for COL4A3BP Gene
Aliases for COL4A3BP Gene
External Ids for COL4A3BP Gene
- HGNC: 2205
- Entrez Gene: 10087
- Ensembl: ENSG00000113163
- OMIM: 604677
- UniProtKB: Q9Y5P4
Previous GeneCards Identifiers for COL4A3BP Gene
- GC05M073482
- GC05M074905
- GC05M074703
- GC05M074754
- GC05M074753
- GC05M074705
- GC05M069872
- GC05M074664
Summaries for COL4A3BP Gene
-
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL4A3BP Gene
COL4A3BP (Collagen Type IV Alpha 3 Binding Protein) is a Protein Coding gene. Diseases associated with COL4A3BP include Mental Retardation, Autosomal Dominant 34 and Goodpasture Syndrome. Among its related pathways are Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) and Metabolism. GO annotations related to this gene include protein kinase activity and kinase activity. An important paralog of this gene is PLEKHA8.
UniProtKB/Swiss-Prot for COL4A3BP Gene
-
Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A3BP Gene
Genomics for COL4A3BP Gene
Regulatory Elements for COL4A3BP Gene
Enhancers for COL4A3BP Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH05G075565 | 1.6 | FANTOM5 Ensembl ENCODE | 11 | -55.1 | -55056 | 3.6 | HDGF PKNOX1 ATF1 ARNT SIN3A YBX1 YY1 TCF12 ZNF766 GATA2 | COL4A3BP ENSG00000271815 ANKRD31 POC5 POLK RNU7-175P ENSG00000248881 |
| GH05G075610 | 1.2 | Ensembl ENCODE | 11 | -102.4 | -102390 | 8.5 | ARID4B KLF17 FEZF1 THRB ZNF48 CHAMP1 TCF12 GATA2 SCRT2 KLF7 | GCNT4 COL4A3BP POC5 ANKDD1B RNU6-680P |
| GH05G075622 | 1.2 | Ensembl ENCODE | 10.8 | -111.3 | -111334 | 2.6 | FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SP5 MIER2 REST PPARG | COL4A3BP POC5 GCNT4 ANKDD1B RNU6-680P |
| GH05G075509 | 1.1 | ENCODE | 11.5 | +0.1 | 72 | 5.1 | HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B | GCNT4 COL4A3BP ENSG00000272040 POC5 ENSG00000271815 POLK |
| GH05G075523 | 1.1 | Ensembl ENCODE | 11.2 | -13.1 | -13081 | 3.2 | HDGF FOXA2 SCRT2 RELB ETV6 IKZF2 CREM THAP11 HMG20B CEBPB | COL4A3BP ANKDD1B GC05M075540 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL4A3BP on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the COL4A3BP gene promoter:
Regulatory Element Products
Genomic Location for COL4A3BP Gene
- Chromosome:
- 5
- Start:
- 75,368,486 bp from pter
- End:
- 75,512,138 bp from pter
- Size:
- 143,653 bases
- Orientation:
- Minus strand
Genomic View for COL4A3BP Gene
Genes around COL4A3BP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q13.3 by Ensembl
- 5q13.3 by Entrez Gene
- 5q13.3 by HGNC
COL4A3BP 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 COL4A3BP Gene
Proteins for COL4A3BP Gene
-
Protein details for COL4A3BP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y5P4-C43BP_HUMAN
- Recommended name:
- Collagen type IV alpha-3-binding protein
- Protein Accession:
- Q9Y5P4
- A8K7S2
- B3KUB7
- Q53YV1
- Q53YV2
- Q96Q85
- Q96Q88
- Q9H2S7
- Q9H2S8
Protein attributes for COL4A3BP Gene
- Size:
- 624 amino acids
- Molecular mass:
- 70835 Da
- Quaternary structure:
-
- Interacts with COL4A3. Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with VAPA.
Three dimensional structures from OCA and Proteopedia for COL4A3BP Gene
Protein Expression for COL4A3BP Gene
Post-translational modifications for COL4A3BP Gene
- Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. Inactivated by hyperphosphorylation of serine residues by CSNK1G2/CK1 that triggers dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for COL4A3BP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for COL4A3BP
- Novus Biologicals Antibodies for COL4A3BP
- Invitrogen Antibodies for COL4A3BP
- antibodies-online Antibodies for COL4A3BP: See all 96
- GeneTex COL4A3BP antibody for COL4A3BP
Protein Products
-
OriGene Purified Proteins for COL4A3BP
- Search Origene for MassSpec and Protein Over-expression Lysates for COL4A3BP
- Origene Custom Protein Services for COL4A3BP
- Sino Biological Recombinant Proteins for COL4A3BP
- Sino Biological Cell Lysates for COL4A3BP
- ProSpec Recombinant Proteins for COL4A3BP
- antibodies-online Proteins for COL4A3BP: See all 17
- Search antibodies-online for peptides
- Search GeneTex for Proteins for COL4A3BP
Assay Products
- antibodies-online Kits for COL4A3BP: See all 5
No data available for DME Specific Peptides for COL4A3BP Gene
Domains & Families for COL4A3BP Gene
Gene Families for COL4A3BP Gene
Protein Domains for COL4A3BP Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for COL4A3BP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y5P4UniProtKB/Swiss-Prot:
C43BP_HUMAN :- The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.
- Domain:
-
- The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.
- The PH domain targets the Golgi apparatus.
- The FFAT motif is required for interaction with VAPA and VAPB.
Function for COL4A3BP Gene
Molecular function for COL4A3BP Gene
- UniProtKB/Swiss-Prot Function:
- Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | TAS | 10212244 |
| GO:0005515 | protein binding | IPI | 10212244 |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0035620 | ceramide transporter activity | IDA | 18184806 |
Phenotypes for COL4A3BP Gene
- MGI mutant phenotypes for COL4A3BP:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for COL4A3BP:
-
- shRNA abundance <= 50%
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased shRNA abundance (Z-score < -2)
- Condensed cis-Golgi
- Paclitaxel antagonistic effect
Animal Models for COL4A3BP Gene
- MGI Knock Outs for COL4A3BP:
-
- Col4a3bp tm1a(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL4A3BP
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL4A3BP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A3BP gene
- Search ViGene Biosciences for COL4A3BP
CRISPR Products
-
OriGene CRISPR knockouts for COL4A3BP
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL4A3BP
- GenScript: Design CRISPR guide RNA sequences for COL4A3BP
miRNA for COL4A3BP Gene
- miRTarBase miRNAs that target COL4A3BP
-
- hsa-mir-660-5p (MIRT216615)
- hsa-mir-5581-3p (MIRT512780)
- hsa-mir-1185-2-3p (MIRT512781)
- hsa-mir-1185-1-3p (MIRT512782)
- hsa-let-7f-2-3p (MIRT512783)
- hsa-mir-194-5p (MIRT512784)
- hsa-mir-5000-3p (MIRT512785)
- hsa-mir-4716-5p (MIRT512786)
- hsa-mir-4436a (MIRT512787)
- hsa-mir-411-3p (MIRT512788)
- hsa-mir-379-3p (MIRT512789)
- hsa-mir-4700-3p (MIRT512790)
- hsa-mir-5011-5p (MIRT512791)
- hsa-mir-6516-5p (MIRT515784)
- hsa-mir-455-3p (MIRT515785)
- hsa-mir-6807-5p (MIRT515786)
- hsa-mir-7847-3p (MIRT515787)
- hsa-mir-5196-5p (MIRT515788)
- hsa-mir-6851-5p (MIRT515789)
- hsa-mir-4747-5p (MIRT515790)
- hsa-mir-3689d (MIRT515791)
- hsa-mir-6499-3p (MIRT515792)
- hsa-mir-6086 (MIRT515793)
- hsa-mir-377-5p (MIRT515794)
- hsa-mir-4795-5p (MIRT515795)
- hsa-mir-4646-5p (MIRT515796)
- hsa-mir-204-3p (MIRT515797)
- hsa-mir-6500-3p (MIRT515798)
- hsa-mir-3614-5p (MIRT515799)
- hsa-mir-7851-3p (MIRT515800)
- hsa-mir-34b-3p (MIRT515801)
- hsa-mir-490-3p (MIRT515802)
- hsa-mir-1305 (MIRT527917)
- hsa-mir-4276 (MIRT527918)
- hsa-mir-6721-5p (MIRT527919)
- hsa-mir-1911-5p (MIRT527920)
- hsa-mir-5190 (MIRT527921)
- hsa-mir-3174 (MIRT527922)
- hsa-mir-629-3p (MIRT618630)
- hsa-mir-519e-5p (MIRT618631)
- hsa-mir-515-5p (MIRT618632)
- hsa-mir-5695 (MIRT618633)
- hsa-mir-519d-5p (MIRT618634)
- hsa-mir-6513-5p (MIRT631363)
- hsa-mir-887-5p (MIRT631364)
- hsa-mir-3913-5p (MIRT631365)
- hsa-mir-3122 (MIRT631366)
- hsa-mir-450a-1-3p (MIRT631367)
- hsa-mir-6780a-5p (MIRT631368)
- hsa-mir-6779-5p (MIRT631369)
- hsa-mir-3689c (MIRT631370)
- hsa-mir-3689b-3p (MIRT631371)
- hsa-mir-3689a-3p (MIRT631372)
- hsa-mir-30b-3p (MIRT631373)
- hsa-mir-1273h-5p (MIRT631374)
- hsa-mir-6788-5p (MIRT631375)
- hsa-mir-30c-2-3p (MIRT631376)
- hsa-mir-30c-1-3p (MIRT631377)
- hsa-mir-7977 (MIRT631378)
- hsa-mir-6748-5p (MIRT631379)
- hsa-mir-6769b-5p (MIRT631380)
- hsa-mir-6769a-5p (MIRT631381)
- hsa-mir-4483 (MIRT631382)
- hsa-mir-1293 (MIRT631383)
- hsa-mir-6766-5p (MIRT631384)
- hsa-mir-6756-5p (MIRT631385)
- hsa-mir-6745 (MIRT631386)
- hsa-mir-363-5p (MIRT631387)
- hsa-mir-6799-5p (MIRT631388)
- hsa-mir-6883-5p (MIRT631389)
- hsa-mir-6785-5p (MIRT631390)
- hsa-mir-4728-5p (MIRT631391)
- hsa-mir-149-3p (MIRT631392)
- hsa-mir-7106-5p (MIRT631393)
- hsa-mir-5008-5p (MIRT631394)
- hsa-mir-4726-3p (MIRT631395)
- hsa-mir-6749-3p (MIRT659422)
- hsa-mir-6792-3p (MIRT659423)
- hsa-mir-4691-5p (MIRT659424)
- hsa-mir-660-3p (MIRT659425)
- hsa-mir-1273d (MIRT659426)
- hsa-mir-548as-3p (MIRT659427)
miRNA Products
- Search ViGene Biosciences for COL4A3BP
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A3BP
- Browse OriGene Inhibitory RNA Products For COL4A3BP
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A3BP gene
Clone Products
- Sino Biological Human cDNA Clone for COL4A3BP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for COL4A3BP
- VectorBuilder custom plasmid, inducible vectors for COL4A3BP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A3BP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for COL4A3BP
-
ViGene Biosciences adenoviral particle packaged cDNA for COL4A3BP gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COL4A3BP gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A3BP gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL4A3BP Gene
Localization for COL4A3BP Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL4A3BP Gene
- Cytoplasm. Golgi apparatus. Endoplasmic reticulum. Note=Preferentially localized to the Golgi apparatus. {ECO:0000305 PubMed:16895911}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| mitochondrion | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
Pathways & Interactions for COL4A3BP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Sphingolipid metabolism | ||
| 3 | Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) | ||
Pathways by source for COL4A3BP Gene
4 Reactome pathways for COL4A3BP Gene
1 GeneGo (Thomson Reuters) pathway for COL4A3BP Gene
Interacting Proteins for COL4A3BP Gene
Selected Interacting proteins:
Q9Y5P4-C43BP_HUMAN
ENSP00000369862
for COL4A3BP Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000902 | cell morphogenesis | IEA | -- |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0003007 | heart morphogenesis | IEA | -- |
| GO:0006468 | protein phosphorylation | TAS | 10212244 |
| GO:0006672 | ceramide metabolic process | IEA | -- |
Drugs & Compounds for COL4A3BP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Transcripts for COL4A3BP Gene
mRNA/cDNA for COL4A3BP Gene
- (7) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (220) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL4A3BP Gene
- Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for COL4A3BP
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL4A3BP
- GenScript: Design CRISPR guide RNA sequences for COL4A3BP
miRNA Products
- Search ViGene Biosciences for COL4A3BP
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for COL4A3BP
- Browse OriGene Inhibitory RNA Products For COL4A3BP
-
ViGene Biosciences ready-to-package AAV shRNAs for COL4A3BP gene
Clone Products
- Sino Biological Human cDNA Clone for COL4A3BP
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for COL4A3BP
- VectorBuilder custom plasmid, inducible vectors for COL4A3BP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL4A3BP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - |
Expression for COL4A3BP Gene
This gene is overexpressed in Peripheral blood mononuclear cells (15.1) and Lung (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL4A3BP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL4A3BP Gene:
COL4A3BPSOURCE GeneReport for Unigene cluster for COL4A3BP Gene:
Hs.270437mRNA Expression by UniProt/SwissProt for COL4A3BP Gene:
Q9Y5P4-C43BP_HUMAN
Tissue specificity:
Widely expressed.
Evidence on tissue expression from TISSUES for COL4A3BP Gene
- Liver(4.3)
- Lung(4.3)
- Nervous system(3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A3BP Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- nose
- salivary gland
- skull
- tooth
Thorax:
- breast
- chest wall
Abdomen:
- abdominal wall
Pelvis:
- placenta
- uterus
Limb:
- foot
- lower limb
- toe
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for COL4A3BP
-
OriGene qPCR primer pairs for COL4A3BP
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COL4A3BP Gene
Orthologs for COL4A3BP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL4A3BP 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | COL4A3BP 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL4A3BP 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL4A3BP 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | COL4A3BP 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Col4a3bp 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col4a3bp 34 |
|
||
| chicken (Gallus gallus) |
Aves | COL4A3BP 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL4A3BP 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col4a3bp 34 |
|
||
| col4a3bp-prov 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12848 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | COL4A3BP (2 of 2) 35 |
|
OneToMany | |
| col4a3bpa 35 |
|
OneToMany | |||
| LOC797430 34 |
|
||||
| Dr.16824 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007093 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | cert 34 35 |
|
||
| BcDNA:GH07688 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | F25H2.6 36 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1898 34 |
|
- Species where no ortholog for COL4A3BP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- wheat (Triticum aestivum)
Paralogs for COL4A3BP Gene
Variants for COL4A3BP Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_073721 | Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351] | ||||
| rs1000009699 | -- | 75,374,233(+) | AACTC(A/C)GCAGT | intron-variant | |
| rs1000034005 | -- | 75,506,520(+) | ATGTA(C/T)GTAGT | intron-variant | |
| rs1000045289 | -- | 75,448,778(+) | TTGTA(A/C)AGAAA | intron-variant | |
| rs1000055722 | -- | 75,406,417(+) | ATTAT(A/G)ATAAC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1293475 | CNV | insertion | 17803354 |
| esv1729448 | CNV | insertion | 17803354 |
| esv2621701 | CNV | deletion | 19546169 |
| esv2678661 | CNV | deletion | 23128226 |
| esv2730313 | CNV | deletion | 23290073 |
| esv2730314 | CNV | deletion | 23290073 |
| esv3575856 | CNV | gain | 25503493 |
| esv3605444 | CNV | loss | 21293372 |
| esv3605445 | CNV | loss | 21293372 |
| esv3605446 | CNV | loss | 21293372 |
| nsv1116549 | OTHER | inversion | 24896259 |
| nsv1133360 | CNV | tandem duplication | 24896259 |
| nsv329298 | CNV | insertion | 16902084 |
| nsv329892 | CNV | deletion | 16902084 |
| nsv475714 | CNV | novel sequence insertion | 20440878 |
| nsv980685 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.09;
38.13% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for COL4A3BP Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A3BP Gene
Disorders for COL4A3BP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 34 |
|
|
| goodpasture syndrome |
|
|
Search COL4A3BP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
C43BP_HUMAN- Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:25533962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for COL4A3BP
No data available for Genatlas for COL4A3BP Gene
Publications for COL4A3BP Gene
- Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen. (PMID: 10212244) Raya A. … Saus J. (J. Biol. Chem. 1999) 2 3 4 22 64
- Molecular machinery for non-vesicular trafficking of ceramide. (PMID: 14685229) Hanada K. … Nishijima M. (Nature 2003) 3 4 22 64
- Goodpasture antigen-binding protein, the kinase that phosphorylates the Goodpasture antigen, is an alternatively spliced variant implicated in autoimmune pathogenesis. (PMID: 11007769) Raya A. … Saus J. (J. Biol. Chem. 2000) 3 4 22 64
- Crystal structures of the CERT START domain with inhibitors provide insights into the mechanism of ceramide transfer. (PMID: 20036255) Kudo N. … Kato R. (J. Mol. Biol. 2010) 3 4 64
- Human biliverdin reductase suppresses Goodpasture antigen-binding protein (GPBP) kinase activity: the reductase regulates tumor necrosis factor-alpha-NF-kappaB-dependent GPBP expression. (PMID: 20177069) Miralem T. … Maines M.D. (J. Biol. Chem. 2010) 3 22 64
Products for COL4A3BP Gene
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- Mammalian expression: PiggyBac
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