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

    Gene ID: 229227, updated on 27-Nov-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 enable phosphatidylethanolamine transfer activity. Acts upstream of or within lipid transport and response to cold. Predicted to be located in endoplasmic reticulum-plasma membrane contact site. 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 BLTP1 (bridge-like lipid transfer protein family member 1). [provided by Alliance of Genome Resources, Nov 2024]
    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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    See Bltp1 in Genome Data Viewer
    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. 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
    2. Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling. Verstreken P, et al. Neuron, 2009 Jul 30. PMID 19640479, Free PMC Article
    3. 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
    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 (27) 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)
    • Endonuclease-mediated (1) 
    • 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
    		  
    enables phosphatidylethanolamine transfer activity ISS
    Inferred from Sequence or Structural Similarity
    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 endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endosomal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosomal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fat cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intermembrane lipid transfer ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 
    acts_upstream_of_or_within lipid transport IMP
    Inferred from Mutant Phenotype
    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 phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phospholipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within response to cold IMP
    Inferred from Mutant Phenotype
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-plasma membrane contact site ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial membrane 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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