Mbl1 MGI Mouse Gene Detail - MGI:96923 - mannose-binding lectin (protein A) 1

Symbol

Mbl1
Name

mannose-binding lectin (protein A) 1
Synonyms

MBL-A, MBP-A

Feature Type

protein coding gene
IDs

MGI:96923
NCBI Gene: 17194
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr14:40873415-40881558 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 22.36 cM
Mapping Data

8 experiments

SNPs within 2kb

272 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96923	protein coding gene	Chr14:40873413-40885861 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021198	protein coding gene	Chr14:34783333-34790082 (+)
A/J	MGP_AJ_G0021146	protein coding gene	Chr14:33437666-33444515 (+)
AKR/J	MGP_AKRJ_G0021123	protein coding gene	Chr14:34805473-34812267 (+)
BALB/cJ	MGP_BALBcJ_G0021150	protein coding gene	Chr14:33653607-33661042 (+)
C3H/HeJ	MGP_C3HHeJ_G0020933	protein coding gene	Chr14:34765235-34772049 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021582	protein coding gene	Chr14:36182861-36191446 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019144	protein coding gene	Chr14:33057794-33063960 (+)
CAST/EiJ	MGP_CASTEiJ_G0020458	protein coding gene	Chr14:34534327-34542659 (+)
CBA/J	MGP_CBAJ_G0020899	protein coding gene	Chr14:37414042-37420914 (+)
DBA/2J	MGP_DBA2J_G0021022	protein coding gene	Chr14:33395470-33402845 (+)
FVB/NJ	MGP_FVBNJ_G0021006	protein coding gene	Chr14:33334325-33342030 (+)
LP/J	MGP_LPJ_G0021091	protein coding gene	Chr14:35020762-35028119 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021032	protein coding gene	Chr14:37033093-37044940 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021615	protein coding gene	Chr14:34589651-34598781 (+)
PWK/PhJ	MGP_PWKPhJ_G0020206	protein coding gene	Chr14:32865927-32873526 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020030	protein coding gene	Chr14:34211310-34221997 (+)
WSB/EiJ	MGP_WSBEiJ_G0020513	protein coding gene	Chr14:34705381-34712116 (+)

Human Ortholog

MBL1P, mannose binding lectin 1, pseudogene

Vertebrate Orthologs

6

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MBL1P, mannose binding lectin 1, pseudogene
Synonyms

COLEC3P, MBL1P1
Links

HGNC:6921

NCBI Gene ID: 8512
Chr Location

10q22.3; chr10:79920178-79923119 (+) GRCh38

MGI Vertebrate Homology

Mbl1 stringent orthology
1 human;1 mouse;1 rat;4 zebrafish
HCOP

vertebrate homology predictions: MBL1P
Gene Tree

Mbl1

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Phenotype Summary

10 phenotypes from 3 alleles in 3 genetic backgrounds
13 phenotypes from multigenic genotypes
140 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

1
Targeted

8
Transgenic

1
Genomic Mutations

1 involving Mbl1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous inactivation does not result in overt abnormalities. However mutant mice have shown increased survival in a mouse model of acute septic peritonitis.

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All GO Annotations

35
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

708
Tissues

2
cDNA Data

30
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

35
RefSeq

4
UniProt

2
CCDS

CCDS26961.1

Ensembl

ENSMUSG00000037780 (Evidence)
NCBI Gene

17194

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037780	Ensembl Gene Model \| MGI Sequence Detail	8144	C57BL/6J	± kb
transcript	ENSMUST00000225792	Ensembl \| MGI Sequence Detail	1563	Not Applicable
polypeptide	ENSMUSP00000153147	Ensembl \| MGI Sequence Detail	239	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000010900 mannose-binding protein A

(term hierarchy)
InterPro Domains

IPR051077 Calcium-dependent Lectin

IPR008160 Collagen triple helix repeat

IPR033990 Collectin, C-type lectin-like domain

IPR018378 C-type lectin, conserved site

IPR016187 C-type lectin fold

IPR001304 C-type lectin-like

IPR016186 C-type lectin-like/link domain superfamily
GlyGen

P39039 4 sites

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All nucleic 38

Genomic 6

cDNA 31

Primer pair 1

Microarray probesets 3

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MGD-MRK-12124

Summaries

All 183

Developmental Gene Expression 1

Gene Ontology 6

Phenotypes 140
Earliest

J:22454 Sastry K, et al., Molecular characterization of the mouse mannose-binding proteins. The mannose-binding protein A but not C is an acute phase reactant. J Immunol. 1991 Jul 15;147(2):692-7
Latest

J:354496 Stark K, et al., Antibodies and complement are key drivers of thrombosis. Immunity. 2024 Sep 10;57(9):2140-2156.e10

TSS for Mbl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr125191	Chr14:40873399-40873469 (+)	19 bp
Tssr125192	Chr14:40873485-40873492 (+)	74 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 10/29/2024 MGI 6.24