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Aliases for MBL1P Gene

Aliases for MBL1P Gene

  • Mannose Binding Lectin 1, Pseudogene 2 3 5
  • Mannose-Binding Lectin (Protein A) 1, Pseudogene 1 2 3
  • Mannose-Binding Lectin (Protein A) 1, Pseudogene 2
  • COLEC3P 3
  • MBL1P1 3

External Ids for MBL1P Gene

Previous HGNC Symbols for MBL1P Gene

  • MBL1P1

Previous GeneCards Identifiers for MBL1P Gene

  • GC10P081671
  • GC10P081667
  • GC10P081673
  • GC10P075522
  • GC10P081776
  • GC10P080043
  • GC10P080070
  • GC10P081985
  • GC10P080094
  • GC10P080117
  • GC10P080141
  • GC10P080164
  • GC10P080364
  • GC10P080385
  • GC10P081543
  • GC10P081874

Summaries for MBL1P Gene

GeneCards Summary for MBL1P Gene

MBL1P (Mannose Binding Lectin 1, Pseudogene) is a Pseudogene.

Additional gene information for MBL1P Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBL1P Gene

Genomics for MBL1P Gene

GeneHancer (GH) Regulatory Elements for MBL1P Gene

Promoters and enhancers for MBL1P Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J080192 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.1 +281.1 281099 16.8 ZFX CC2D1A SP1 CTCF ELF3 CBFA2T2 ZNF148 NKRF POLR2A MLLT1 ANXA11 MBL1P LOC642361 ENSG00000235858 LINC00857 ENSG00000272489 MAT1A DYDC2 PLAC9 SH2D4B
GH10J080185 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.4 +268.1 268075 4.3 SP1 ZFX CBFA2T2 ZNF148 NKRF MLLT1 ZNF687 TRIM24 CREM EGR1 ENSG00000272489 MBL1P LOC642361 LINC00857 NUTM2B-AS1 PLAC9 ANXA11 ENSG00000235858 GC10M080155
GH10J079927 Enhancer 1.3 FANTOM5 Ensembl ENCODE 23.7 +6.9 6947 0.6 ELF3 SP1 PPARG RXRA CEBPA GATAD2A NFKBIZ RXRB FOXA2 IRF2 MBL1P SFTPD SFTPD-AS1 ZCCHC24 ENSG00000283913 BMS1P21
GH10J080153 Enhancer 1.4 Ensembl ENCODE dbSUPER 20.4 +241.4 241354 15.4 MLLT1 BACH1 TRIM24 SP7 RAD21 EGR1 SMARCA4 FOSL2 CREB1 GLIS2 LINC00857 ENSG00000272489 MBL1P ANXA11 PLAC9 MAT1A SFTPD TSPAN14 GC10M080155 PIR39736
GH10J080132 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 16.4 +213.1 213105 3 PRDM1 ZNF512 ZBTB20 EZH2 ZNF366 POLR2A HLF PLAC9 MBL1P TMEM254-AS1 PIR39736
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBL1P on UCSC Golden Path with GeneCards custom track

Genomic Locations for MBL1P Gene

Genomic Locations for MBL1P Gene
chr10:79,920,178-79,923,119
(GRCh38/hg38)
Size:
2,942 bases
Orientation:
Plus strand
chr10:81,664,654-81,710,092
(GRCh37/hg19)
Size:
45,439 bases
Orientation:
Plus strand

Genomic View for MBL1P Gene

Genes around MBL1P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBL1P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBL1P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBL1P Gene

Proteins for MBL1P Gene

No data available for DME Specific Peptides for MBL1P Gene

Domains & Families for MBL1P Gene

Gene Families for MBL1P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MBL1P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MBL1P Gene

Function for MBL1P Gene

Phenotypes From GWAS Catalog for MBL1P Gene

Phenotypes for MBL1P Gene

genes like me logo Genes that share phenotypes with MBL1P: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MBL1P Gene

Localization for MBL1P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MBL1P Gene

Pathways & Interactions for MBL1P Gene

PathCards logo

SuperPathways for MBL1P Gene

No Data Available

Interacting Proteins for MBL1P Gene

Gene Ontology (GO) - Biological Process for MBL1P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MBL1P Gene

Drugs & Compounds for MBL1P Gene

No Compound Related Data Available

Transcripts for MBL1P Gene

mRNA/cDNA for MBL1P Gene

(1) Additional mRNA sequences :
(21) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBL1P Gene

No ASD Table

Relevant External Links for MBL1P Gene

GeneLoc Exon Structure for
MBL1P
ECgene alternative splicing isoforms for
MBL1P

Expression for MBL1P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MBL1P Gene

mRNA differential expression in normal tissues according to GTEx for MBL1P Gene

This gene is overexpressed in Pancreas (x6.9) and Liver (x6.9).

NURSA nuclear receptor signaling pathways regulating expression of MBL1P Gene:

MBL1P
genes like me logo Genes that share expression patterns with MBL1P: view

Primer 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 MBL1P Gene

Orthologs for MBL1P Gene

Evolution for MBL1P Gene

ENSEMBL:
Gene Tree for MBL1P (if available)
TreeFam:
Gene Tree for MBL1P (if available)

No data available for Orthologs for MBL1P Gene

Paralogs for MBL1P Gene

No data available for Paralogs for MBL1P Gene

Variants for MBL1P Gene

Sequence variations from dbSNP and Humsavar for MBL1P Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000292311 -- 79,922,010(+) A/G intron_variant
rs1002679570 -- 79,918,291(+) C/T upstream_transcript_variant
rs1002851387 -- 79,923,614(+) T/C downstream_transcript_variant
rs1003632355 -- 79,919,247(+) A/G upstream_transcript_variant
rs1003641637 -- 79,920,012(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MBL1P Gene

Variant ID Type Subtype PubMed ID
dgv941n100 CNV gain 25217958
esv3623930 CNV loss 21293372
esv3623931 CNV gain 21293372
nsv1141879 OTHER inversion 24896259
nsv467391 CNV gain 19166990
nsv551632 CNV gain 21841781
nsv831922 CNV loss 17160897

Additional Variant Information for MBL1P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBL1P

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MBL1P Gene

Disorders for MBL1P Gene

Additional Disease Information for MBL1P

No disorders were found for MBL1P Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MBL1P Gene

Publications for MBL1P Gene

  1. The 'involution' of mannose-binding lectin. (PMID: 16115813) Seyfarth J … Madsen HO (Human molecular genetics 2005) 3 23 58
  2. The human ortholog of rhesus mannose-binding protein-A gene is an expressed pseudogene that localizes to chromosome 10. (PMID: 9501312) Guo N … Sastry KN (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 58
  3. Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhood. (PMID: 24576294) Durmaz B … Ozkinay F (International journal of rheumatic diseases 2014) 3 58
  4. Mannose-binding lectin gene polymorphisms and mycobacterial lymphadenitis in young patients. (PMID: 24008740) You HL … Eng HL (The Pediatric infectious disease journal 2013) 3 58
  5. MBL1 gene in nonhuman primates. (PMID: 21889966) Segat L … Crovella S (Human immunology 2011) 3 58

Products for MBL1P Gene

Sources for MBL1P Gene

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