MBL1P mannose binding lectin 1, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBL1Pprovided by HGNC
Official Full Name: mannose binding lectin 1, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:6921
See related: Ensembl:ENSG00000293431 AllianceGenome:HGNC:6921
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MBL1P1; COLEC3P
Summary: Predicted to enable several functions, including calcium-dependent carbohydrate binding activity; mannose binding activity; and protein homodimerization activity. Predicted to be involved in protein homotrimerization. Predicted to act upstream of or within defense response to other organism and positive regulation of phagocytosis. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung (RPKM 2.4), kidney (RPKM 0.8) and 22 other tissues See more
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Genomic context

Location:: 10q22.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79920178..79923119)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80789562..80792503)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81679934..81682875)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Statistical analysis revealed no association between codon 54 in exon 1 of the MBL gene and susceptibility to Henoch-Schonlein purpura in children.
Title: Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhood.
The present study suggests that mannose-binding lectin can protect against tuberculosis or predispose the host to the disease depending on the haplotype pair of the host.
Title: Mannose-binding lectin gene polymorphisms and mycobacterial lymphadenitis in young patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population.
MBL1P1 gene has been selectively turned off during evolution through the same molecular mechanisms causing the MBL2 variant alleles in man, suggesting an evolutionary selection for low-producing MBL genes.
Title: The 'involution' of mannose-binding lectin.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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General gene information

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Other Names

mannose-binding lectin (protein A) 1, pseudogene 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.