Aliases for COL6A4P1 Gene
Aliases for COL6A4P1 Gene
- Collagen Type VI Alpha 4 Pseudogene 1 2 3 5
- Von Willebrand Factor A Domain Containing 6 2 3
- Collagen, Type VI, Alpha 4, Pseudogene 2 3
- Dual Von Willebrand Factor A Domains 2 3
- Dual Intracellular Von Willebrand Factor Domain A 3
- Collagen, Type VI, Alpha 4 Pseudogene 1 2
- Collagen VI Alpha 4 Pseudogene 1 3
External Ids for COL6A4P1 Gene
- HGNC: 33484
- Entrez Gene: 344875
- Ensembl: ENSG00000230524
- OMIM: 612397
Previous HGNC Symbols for COL6A4P1 Gene
- DVWA
Previous GeneCards Identifiers for COL6A4P1 Gene
- GC03M015187
- GC03M015142
- GC03M015193
Summaries for COL6A4P1 Gene
-
This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009]
GeneCards Summary for COL6A4P1 Gene
COL6A4P1 (Collagen Type VI Alpha 4 Pseudogene 1) is a Pseudogene.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A4P1 Gene
Genomics for COL6A4P1 Gene
Regulatory Elements for COL6A4P1 Gene
Enhancers for COL6A4P1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around COL6A4P1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for COL6A4P1 Gene
- Chromosome:
- 3
- Start:
- 15,151,833 bp from pter
- End:
- 15,205,959 bp from pter
- Size:
- 54,127 bases
- Orientation:
- Minus strand
Genomic View for COL6A4P1 Gene
Genes around COL6A4P1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p25.1 by Ensembl
- 3p25.1 by Entrez Gene
- 3p25.1 by HGNC
COL6A4P1 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 COL6A4P1 Gene
Proteins for COL6A4P1 Gene
Post-translational modifications for COL6A4P1 Gene
No Post-translational modifications
Antibody Products
- Search GeneTex for Antibodies for COL6A4P1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for COL6A4P1
- Origene Custom Protein Services for COL6A4P1
- Search GeneTex for Proteins for COL6A4P1
Assay Products
No data available for DME Specific Peptides for COL6A4P1 Gene
Domains & Families for COL6A4P1 Gene
Gene Families for COL6A4P1 Gene
- HGNC:
Graphical View of Domain Structure for InterPro Entry
No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for COL6A4P1 Gene
Function for COL6A4P1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL6A4P1
-
- Search ViGene Biosciences for COL6A4P1
CRISPR Products
- Browse CRISPR knockouts for COL6A4P1
miRNA Products
- Search ViGene Biosciences for COL6A4P1
Inhibitory RNA Products
- Search ViGene Biosciences for COL6A4P1
Clone Products
- GenScript: Custom all cDNA clones Services for COL6A4P1
- VectorBuilder custom plasmid, inducible vectors for COL6A4P1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A4P1
-
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
- Search ViGene Biosciences for COL6A4P1
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COL6A4P1 Gene
Localization for COL6A4P1 Gene
No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for COL6A4P1 Gene
Transcripts for COL6A4P1 Gene
mRNA/cDNA for COL6A4P1 Gene
- (2) Additional mRNA sequences :
- (1) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL6A4P1 Gene
CRISPR Products
- Browse CRISPR knockouts for COL6A4P1
miRNA Products
- Search ViGene Biosciences for COL6A4P1
Inhibitory RNA Products
- Search ViGene Biosciences for COL6A4P1
Clone Products
- GenScript: Custom all cDNA clones Services for COL6A4P1
- VectorBuilder custom plasmid, inducible vectors for COL6A4P1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A4P1
-
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
Expression for COL6A4P1 Gene
mRNA differential expression in normal tissues according to GTEx for COL6A4P1 Gene
This gene is overexpressed in Nerve - Tibial (x8.4), Cervix - Ectocervix (x7.0), Vagina (x6.4), and Bladder (x6.2).
NURSA nuclear receptor signaling pathways regulating expression of COL6A4P1 Gene:
COL6A4P1SOURCE GeneReport for Unigene cluster for COL6A4P1 Gene:
Hs.722756Primer Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL6A4P1 Gene
Orthologs for COL6A4P1 Gene
No data available for Orthologs for COL6A4P1 Gene
Paralogs for COL6A4P1 Gene
No data available for Paralogs for COL6A4P1 Gene
Variants for COL6A4P1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000045088 | -- | 15,168,173(+) | ATGAA(A/G)TTCAC | intron-variant | |
| rs1000104039 | -- | 15,174,666(+) | GATGC(C/T)GGGCA | intron-variant | |
| rs1000135548 | -- | 15,194,591(+) | CTCAA(C/G)ATGGA | intron-variant | |
| rs1000176395 | -- | 15,180,697(+) | ATCTA(-/T)TTTTT | intron-variant | |
| rs1000183423 | -- | 15,197,724(+) | TCCAT(G/T)AAAGA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4687n100 | CNV | gain | 25217958 |
| nsv1151847 | CNV | duplication | 26484159 |
| nsv428413 | CNV | gain | 18775914 |
Relevant External Links for COL6A4P1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for COL6A4P1 Gene
Disorders for COL6A4P1 Gene
Relevant External Links for COL6A4P1
No disorders were found for COL6A4P1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COL6A4P1 Gene
Publications for COL6A4P1 Gene
- The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene. (PMID: 19486942) Wagener R. … Zaucke F. (Matrix Biol. 2009) 2 3 64
- [Genomic study of susceptibility genes for common bone and joint diseases]. (PMID: 19507504) Ikegawa S. (Nippon Rinsho 2009) 2 3 64
- Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis. (PMID: 26886631) Wang T. … Zheng Q. (Medicine (Baltimore) 2016) 3 64
- DVWA gene polymorphisms and osteoarthritis. (PMID: 25648366) BravatA V. … Messa C. (BMC Res Notes 2015) 3 64
- Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population. (PMID: 20238217) Zhu L. … Jiang Q. (Rheumatol. Int. 2011) 3 64
Products for COL6A4P1 Gene
- Browse R&D Systems for Antibodies
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- Browse Sino Biological cDNA Clones
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- Sino Biological Transfection Reagents
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL6A4P1
- VectorBuilder custom plasmid, inducible vectors for COL6A4P1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL6A4P1
- 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
Sources for COL6A4P1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
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- (122) diseasecard
- (123) NIH Rare Diseases
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- (128) Genetics Home Reference
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- (130) MedlinePlus
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- (133) NCBI Bookshelf
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- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer