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Bltp1 bridge-like lipid transfer protein family member 1 [ Mus musculus (house mouse) ]

Gene ID: 229227, updated on 21-Apr-2024

Summary

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Official Symbol
Bltp1provided by MGI
Official Full Name
bridge-like lipid transfer protein family member 1provided by MGI
Primary source
MGI:MGI:2444631
See related
Ensembl:ENSMUSG00000037270 AllianceGenome:MGI:2444631
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FSA; Tweek; Kiaa1109; 4732443H21; 4932438A13Rik; B830039D19Rik; D630029K19Rik
Summary
Predicted to be involved in endocytic recycling; phagocytosis; and synaptic vesicle endocytosis. Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in Alkuraya-Kucinskas syndrome. Orthologous to human KIAA1109 (KIAA1109). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 7.1), CNS E18 (RPKM 6.6) and 27 other tissues See more
Orthologs
human all
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Genomic context

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Location:
3 B; 3 18.3 cM
Exon count:
88
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (36917212..37107182)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (36863063..37053033)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel, subfamily C, member 3 Neighboring gene predicted gene, 35856 Neighboring gene protein tyrosine phosphatase, mitochondrial 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_07428 Neighboring gene STARR-seq mESC enhancer starr_07429 Neighboring gene STARR-seq mESC enhancer starr_07431 Neighboring gene STARR-seq mESC enhancer starr_07432 Neighboring gene adenosine deaminase domain containing 1 Neighboring gene zinc finger, CCHC domain containing 17 pseudogene Neighboring gene nucleophosmin 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A conserved megaprotein-based molecular bridge critical for lipid trafficking and cold resilience. Wang C, et al. Nat Commun, 2022 Nov 10. PMID 36357390, Free PMC Article
  2. Molecular cloning of Chinese hamster 1q31 chromosomal fragile site DNA that is important to mdr1 gene amplification reveals a novel gene whose expression is associated with spermatocyte and adipocyte differentiation. Wei Y, et al. Gene, 2006 May 10. PMID 16545529
  3. Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling. Verstreken P, et al. Neuron, 2009 Jul 30. PMID 19640479, Free PMC Article
  4. A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Mural RJ, et al. Science, 2002 May 31. PMID 12040188
  5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC90861

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in adipose tissue development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in endocytic recycling ISO
Inferred from Sequence Orthology
more info
  
involved_in endosomal transport ISO
Inferred from Sequence Orthology
more info
  
involved_in fat cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lipid storage NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in nucleus localization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in phagocytosis ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell growth NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in spermatogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
bridge-like lipid transfer protein family member 1
Names
fragile site-associated protein homolog

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.

mRNA and Protein(s)

  1. NM_172679.2 → NP_766267.2  bridge-like lipid transfer protein family member 1

    See identical proteins and their annotated locations for NP_766267.2

    Status: VALIDATED

    Source sequence(s)
    AK028716, AK030086, AK173100, AK220265, AL645759, AL691425, BC079623, BM250453, BM937557, BU057575, BY292679, CF536597
    Consensus CDS
    CCDS50894.1
    UniProtKB/Swiss-Prot
    A2AAD2, A2AAD4, A2AAE1, E9Q376, Q05BP8, Q3UG08, Q3UYB7, Q571C4, Q69ZR8, Q6AXD9, Q8BWF1, Q8BY77, Q8CEA4, Q8R0A8
    Related
    ENSMUSP00000060199.9, ENSMUST00000057272.15
    Conserved Domains (1) summary
    pfam10479
    Location:4380 → 4987
    FSA_C; Fragile site-associated protein C-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    36917212..37107182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535446.4 → XP_006535509.1  bridge-like lipid transfer protein family member 1 isoform X1

    Conserved Domains (1) summary
    pfam10479
    Location:4469 → 5076
    FSA_C; Fragile site-associated protein C-terminus

  2. XM_017319536.2 → XP_017175025.1  bridge-like lipid transfer protein family member 1 isoform X4

    Conserved Domains (1) summary
    pfam10479
    Location:4468 → 5075
    FSA_C; Fragile site-associated protein C-terminus

  3. XM_006535452.4 → XP_006535515.1  bridge-like lipid transfer protein family member 1 isoform X8

    Conserved Domains (1) summary
    pfam10479
    Location:4434 → 5041
    FSA_C; Fragile site-associated protein C-terminus

  4. XM_006535453.4 → XP_006535516.1  bridge-like lipid transfer protein family member 1 isoform X9

    Conserved Domains (1) summary
    pfam10479
    Location:4433 → 5040
    FSA_C; Fragile site-associated protein C-terminus

  5. XM_006535454.4 → XP_006535517.1  bridge-like lipid transfer protein family member 1 isoform X10

    Conserved Domains (1) summary
    pfam10479
    Location:4422 → 5029
    FSA_C; Fragile site-associated protein C-terminus

  6. XM_006535451.4 → XP_006535514.1  bridge-like lipid transfer protein family member 1 isoform X7

    Conserved Domains (1) summary
    pfam10479
    Location:4448 → 5055
    FSA_C; Fragile site-associated protein C-terminus

  7. XM_030252556.1 → XP_030108416.1  bridge-like lipid transfer protein family member 1 isoform X11

    Conserved Domains (1) summary
    pfam10479
    Location:4413 → 5020
    FSA_C; Fragile site-associated protein C-terminus

  8. XM_036163028.1 → XP_036018921.1  bridge-like lipid transfer protein family member 1 isoform X12

    Conserved Domains (1) summary
    pfam10479
    Location:4412 → 5019
    FSA_C; Fragile site-associated protein C-terminus

  9. XM_006535456.4 → XP_006535519.1  bridge-like lipid transfer protein family member 1 isoform X14

    Conserved Domains (1) summary
    pfam10479
    Location:4401 → 5008
    FSA_C; Fragile site-associated protein C-terminus

  10. XM_006535455.4 → XP_006535518.1  bridge-like lipid transfer protein family member 1 isoform X13

    Conserved Domains (1) summary
    pfam10479
    Location:4402 → 5009
    FSA_C; Fragile site-associated protein C-terminus

  11. XM_036163029.1 → XP_036018922.1  bridge-like lipid transfer protein family member 1 isoform X16

    Conserved Domains (1) summary
    pfam10479
    Location:4367 → 4974
    FSA_C; Fragile site-associated protein C-terminus

  12. XM_036163030.1 → XP_036018923.1  bridge-like lipid transfer protein family member 1 isoform X17

    Conserved Domains (1) summary
    pfam10479
    Location:4366 → 4973
    FSA_C; Fragile site-associated protein C-terminus

  13. XM_017319537.2 → XP_017175026.1  bridge-like lipid transfer protein family member 1 isoform X15

    Conserved Domains (1) summary
    pfam10479
    Location:4381 → 4988
    FSA_C; Fragile site-associated protein C-terminus

  14. XM_017319538.2 → XP_017175027.1  bridge-like lipid transfer protein family member 1 isoform X18

    Conserved Domains (1) summary
    pfam10479
    Location:4346 → 4953
    FSA_C; Fragile site-associated protein C-terminus

  15. XM_006535450.4 → XP_006535513.1  bridge-like lipid transfer protein family member 1 isoform X6

    Conserved Domains (1) summary
    pfam10479
    Location:4452 → 5059
    FSA_C; Fragile site-associated protein C-terminus

  16. XM_006535448.4 → XP_006535511.1  bridge-like lipid transfer protein family member 1 isoform X3

    Conserved Domains (1) summary
    pfam10479
    Location:4468 → 5075
    FSA_C; Fragile site-associated protein C-terminus

  17. XM_006535447.4 → XP_006535510.1  bridge-like lipid transfer protein family member 1 isoform X2

    Conserved Domains (1) summary
    pfam10479
    Location:4468 → 5075
    FSA_C; Fragile site-associated protein C-terminus

  18. XM_036163027.1 → XP_036018920.1  bridge-like lipid transfer protein family member 1 isoform X5

    Conserved Domains (1) summary
    pfam10479
    Location:4467 → 5074
    FSA_C; Fragile site-associated protein C-terminus

RNA

  1. XR_001783681.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2AAE1.4 GenPept UniProtKB/Swiss-Prot:A2AAE1

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