Bltp1 MGI Mouse Gene Detail - MGI:2444631 - bridge-like lipid transfer protein family member 1

Symbol

Bltp1
Name

bridge-like lipid transfer protein family member 1
Synonyms

4932438A13Rik, B830039D19Rik, D630029K19Rik, FSA, Tweek

Feature Type

protein coding gene
IDs

MGI:2444631
NCBI Gene: 229227
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr3:36917253-37107182 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 18.30 cM
Mapping Data

2 experiments

SNPs within 2kb

1507 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444631	protein coding gene	Chr3:36917212-37107182 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027164	protein coding gene	Chr3:34681468-34892685 (+)
A/J	MGP_AJ_G0027124	protein coding gene	Chr3:34002079-34205763 (+)
AKR/J	MGP_AKRJ_G0027093	protein coding gene	Chr3:34638704-34842680 (+)
BALB/cJ	MGP_BALBcJ_G0027136	protein coding gene	Chr3:33764590-33953613 (+)
C3H/HeJ	MGP_C3HHeJ_G0026879	protein coding gene	Chr3:34696070-34896958 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027582	protein coding gene	Chr3:36317650-36530786 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024943	protein coding gene	Chr3:31691476-31883158 (+)
CAST/EiJ	MGP_CASTEiJ_G0026332	protein coding gene	Chr3:34554768-34767183 (+)
CBA/J	MGP_CBAJ_G0026856	protein coding gene	Chr3:37300073-37513817 (+)
DBA/2J	MGP_DBA2J_G0026990	protein coding gene	Chr3:33460076-33644736 (+)
FVB/NJ	MGP_FVBNJ_G0026958	protein coding gene	Chr3:32899078-33087013 (+)
LP/J	MGP_LPJ_G0027102	protein coding gene	Chr3:35463495-35666845 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026978	protein coding gene	Chr3:39729276-39976982 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027641	protein coding gene	Chr3:34481558-34690839 (+)
PWK/PhJ	MGP_PWKPhJ_G0026065	protein coding gene	Chr3:33105539-33327114 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025877	protein coding gene	Chr3:33844050-34057113 (+)
WSB/EiJ	MGP_WSBEiJ_G0026406	protein coding gene	Chr3:34498166-34710752 (+)

Human Ortholog

BLTP1, bridge-like lipid transfer protein family member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BLTP1, bridge-like lipid transfer protein family member 1
Synonyms

ALKKUCS, FSA, KIAA1109, Tweek
Links

HGNC:26953

NCBI Gene ID: 84162

neXtProt AC: NX_Q2LD37

UniProt: Q2LD37
Chr Location

4q27; chr4:122152331-122364167 (+) GRCh38

MGI Vertebrate Homology

Bltp1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BLTP1
Gene Tree

Bltp1

Diseases

1 with human BLTP1 associations

				Human Disease	Mouse Models
				Alkuraya-Kucinskas syndrome IDs Alkuraya-Kucinskas syndrome DOID:0111555 OMIM:617822

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

less

Phenotype Summary

18 phenotypes from 1 allele in 2 genetic backgrounds
18 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

19
Gene trapped

14
Radiation induced

2
Targeted

3
Genomic Mutations

2 involving Bltp1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

202 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

less

All GO Annotations

23
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.

less

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

763
Tissues

47
cDNA Data

115
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

less

All Sequences

130
RefSeq

39
UniProt

10
CCDS

CCDS50894.1

Ensembl

ENSMUSG00000037270 (Evidence)
NCBI Gene

229227

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037270	Ensembl Gene Model \| MGI Sequence Detail	189930	C57BL/6J	± kb
transcript	ENSMUST00000152564	Ensembl \| MGI Sequence Detail	15541	Not Applicable
polypeptide	ENSMUSP00000117808	Ensembl \| MGI Sequence Detail	5005	Not Applicable

less

UniProt

10 Sequences
Protein Ontology

PR:000059786 bridge-like lipid transfer protein family member 1

(term hierarchy)
InterPro Domains

IPR048873 BLTP1, RBG module

IPR033616 Bridge-like lipid transfer protein family member 1

IPR018863 Bridge-like lipid transfer protein family member 1, C-terminal

IPR047104 Bridge-like lipid transfer protein family member 1, N-terminal

less

All nucleic 118

cDNA 118

Microarray probesets 21

less

MGI:2444196, MGI:2444275

Summaries

All 46

Developmental Gene Expression 2

Diseases 1

Gene Ontology 6

Phenotypes 18
Earliest

J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
Latest

J:333355 Wang C, et al., A conserved megaprotein-based molecular bridge critical for lipid trafficking and cold resilience. Nat Commun. 2022 Nov 10;13(1):6805

TSS for Bltp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28876	Chr3:36916144-36916160 (+)	-1,101 bp
Tssr28877	Chr3:36916163-36916189 (+)	-1,077 bp
Tssr28878	Chr3:36917251-36917296 (+)	21 bp
Tssr28879	Chr3:36917297-36917313 (+)	52 bp
Tssr28880	Chr3:36917315-36917326 (+)	68 bp
Tssr28881	Chr3:36917328-36917339 (+)	81 bp
Tssr28882	Chr3:36996530-36996560 (+)	79,292 bp
Tssr28883	Chr3:37098387-37098393 (+)	181,137 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 04/16/2024 MGI 6.23