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 D-mannose binding activity; calcium-dependent carbohydrate 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, Dec 2024]
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_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79920178..79923119)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80789562..80792503)
RS_2024_09	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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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 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.