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    BLTP1 bridge-like lipid transfer protein family member 1 [ Homo sapiens (human) ]

    Gene ID: 84162, updated on 3-Apr-2024

    Summary

    Official Symbol
    BLTP1provided by HGNC
    Official Full Name
    bridge-like lipid transfer protein family member 1provided by HGNC
    Primary source
    HGNC:HGNC:26953
    See related
    Ensembl:ENSG00000138688 MIM:611565; AllianceGenome:HGNC:26953
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FSA; Tweek; ALKKUCS; KIAA1109
    Summary
    This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in ovary (RPKM 9.3), thyroid (RPKM 8.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4q27
    Exon count:
    96
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122152331..122362752)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (125456397..125666898)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123073486..123283907)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268469 Neighboring gene RNA, 7SL, cytoplasmic 335, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:123072777-123073578 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15664 Neighboring gene NANOG hESC enhancer GRCh37_chr4:123226936-123227466 Neighboring gene adenosine deaminase domain containing 1 Neighboring gene interleukin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alkuraya-Kucinskas syndrome
    MedGen: C4693347 OMIM: 617822 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog
    Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog
    Newly identified genetic risk variants for celiac disease related to the immune response.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC110967, DKFZp781P0474

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylethanolamine transfer activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermembrane lipid transfer ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    involved_in regulation of epithelial cell differentiation 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 membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_015813.3 RefSeqGene

      Range
      5002..215423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001384125.1NP_001371054.1  bridge-like lipid transfer protein family member 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC022489, AC104658, AC127089
      Consensus CDS
      CCDS93617.1
      UniProtKB/TrEMBL
      A0A7P0T938, A0A8J8Z0T9
      Related
      ENSP00000505357.1, ENST00000679879.1
      Conserved Domains (1) summary
      pfam10479
      Location:44685075
      FSA_C; Fragile site-associated protein C-terminus
    2. NM_015312.4NP_056127.2  bridge-like lipid transfer protein family member 1 isoform 2

      See identical proteins and their annotated locations for NP_056127.2

      Status: REVIEWED

      Source sequence(s)
      AC104658, AC127089, DQ335469
      Consensus CDS
      CCDS43267.1
      UniProtKB/Swiss-Prot
      Q2LD37, Q4W598, Q5CZA9, Q6ZS70, Q6ZV75, Q86XA5, Q8WVD8, Q9H742, Q9NT48, Q9NTC3, Q9NTI4, Q9P2H6, Q9UPP3
      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:43804987
      FSA_C; Fragile site-associated protein C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      122152331..122362752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416253.1XP_047272209.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    2. XM_047416259.1XP_047272215.1  bridge-like lipid transfer protein family member 1 isoform X6

    3. XM_047416258.1XP_047272214.1  bridge-like lipid transfer protein family member 1 isoform X2

    4. XM_047416255.1XP_047272211.1  bridge-like lipid transfer protein family member 1 isoform X2

    5. XM_047416252.1XP_047272208.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    6. XM_047416268.1XP_047272224.1  bridge-like lipid transfer protein family member 1 isoform X15

    7. XM_047416256.1XP_047272212.1  bridge-like lipid transfer protein family member 1 isoform X2

    8. XM_047416262.1XP_047272218.1  bridge-like lipid transfer protein family member 1 isoform X7

    9. XM_047416251.1XP_047272207.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    10. XM_047416257.1XP_047272213.1  bridge-like lipid transfer protein family member 1 isoform X2

    11. XM_047416263.1XP_047272219.1  bridge-like lipid transfer protein family member 1 isoform X7

    12. XM_047416254.1XP_047272210.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    13. XM_011532320.4XP_011530622.1  bridge-like lipid transfer protein family member 1 isoform X1

      See identical proteins and their annotated locations for XP_011530622.1

      UniProtKB/TrEMBL
      A0A7P0T938, A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44685075
      FSA_C; Fragile site-associated protein C-terminus
    14. XM_047416260.1XP_047272216.1  bridge-like lipid transfer protein family member 1 isoform X6

    15. XM_011532325.2XP_011530627.1  bridge-like lipid transfer protein family member 1 isoform X5

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44335040
      FSA_C; Fragile site-associated protein C-terminus
    16. XM_011532324.2XP_011530626.1  bridge-like lipid transfer protein family member 1 isoform X4

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44475054
      FSA_C; Fragile site-associated protein C-terminus
    17. XM_047416265.1XP_047272221.1  bridge-like lipid transfer protein family member 1 isoform X9

    18. XM_005263282.2XP_005263339.1  bridge-like lipid transfer protein family member 1 isoform X10

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44015008
      FSA_C; Fragile site-associated protein C-terminus
    19. XM_017008695.2XP_016864184.1  bridge-like lipid transfer protein family member 1 isoform X13

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:43664973
      FSA_C; Fragile site-associated protein C-terminus
    20. XM_005263287.2XP_005263344.1  bridge-like lipid transfer protein family member 1 isoform X12

      See identical proteins and their annotated locations for XP_005263344.1

      UniProtKB/Swiss-Prot
      Q2LD37, Q4W598, Q5CZA9, Q6ZS70, Q6ZV75, Q86XA5, Q8WVD8, Q9H742, Q9NT48, Q9NTC3, Q9NTI4, Q9P2H6, Q9UPP3
      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Related
      ENSP00000264501.4, ENST00000264501.8
      Conserved Domains (1) summary
      pfam10479
      Location:43804987
      FSA_C; Fragile site-associated protein C-terminus
    21. XM_017008697.2XP_016864186.1  bridge-like lipid transfer protein family member 1 isoform X17

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:43454952
      FSA_C; Fragile site-associated protein C-terminus
    22. XM_011532323.2XP_011530625.1  bridge-like lipid transfer protein family member 1 isoform X3

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44515058
      FSA_C; Fragile site-associated protein C-terminus
    23. XM_047416266.1XP_047272222.1  bridge-like lipid transfer protein family member 1 isoform X11

    24. XM_047416267.1XP_047272223.1  bridge-like lipid transfer protein family member 1 isoform X14

      Related
      ENST00000684987.1
    25. XM_047416271.1XP_047272227.1  bridge-like lipid transfer protein family member 1 isoform X19

    26. XM_011532326.2XP_011530628.1  bridge-like lipid transfer protein family member 1 isoform X6

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44255032
      FSA_C; Fragile site-associated protein C-terminus
    27. XM_011532322.2XP_011530624.1  bridge-like lipid transfer protein family member 1 isoform X2

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:44675074
      FSA_C; Fragile site-associated protein C-terminus
    28. XM_006714344.2XP_006714407.1  bridge-like lipid transfer protein family member 1 isoform X29

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:43794986
      FSA_C; Fragile site-associated protein C-terminus
    29. XM_047416269.1XP_047272225.1  bridge-like lipid transfer protein family member 1 isoform X16

      Related
      ENSP00000373390.4, ENST00000388738.8
    30. XM_047416261.1XP_047272217.1  bridge-like lipid transfer protein family member 1 isoform X7

    31. XM_047416270.1XP_047272226.1  bridge-like lipid transfer protein family member 1 isoform X18

    32. XM_047416273.1XP_047272229.1  bridge-like lipid transfer protein family member 1 isoform X21

    33. XM_047416275.1XP_047272231.1  bridge-like lipid transfer protein family member 1 isoform X25

    34. XM_047416276.1XP_047272232.1  bridge-like lipid transfer protein family member 1 isoform X26

    35. XM_047416277.1XP_047272233.1  bridge-like lipid transfer protein family member 1 isoform X27

    36. XM_017008699.2XP_016864188.1  bridge-like lipid transfer protein family member 1 isoform X28

      Related
      ENST00000686075.1
    37. XM_047416264.1XP_047272220.1  bridge-like lipid transfer protein family member 1 isoform X8

    38. XM_047416272.1XP_047272228.1  bridge-like lipid transfer protein family member 1 isoform X20

    39. XM_011532330.2XP_011530632.1  bridge-like lipid transfer protein family member 1 isoform X22

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:38854492
      FSA_C; Fragile site-associated protein C-terminus
    40. XM_024454243.1XP_024310011.1  bridge-like lipid transfer protein family member 1 isoform X23

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:38524459
      FSA_C; Fragile site-associated protein C-terminus
    41. XM_017008698.2XP_016864187.1  bridge-like lipid transfer protein family member 1 isoform X24

      UniProtKB/TrEMBL
      A0A8J8Z0T9
      Conserved Domains (1) summary
      pfam10479
      Location:35454152
      FSA_C; Fragile site-associated protein C-terminus

    RNA

    1. XR_938783.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      125456397..125666898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350987.1XP_054206962.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    2. XM_054350999.1XP_054206974.1  bridge-like lipid transfer protein family member 1 isoform X6

    3. XM_054350993.1XP_054206968.1  bridge-like lipid transfer protein family member 1 isoform X2

    4. XM_054350992.1XP_054206967.1  bridge-like lipid transfer protein family member 1 isoform X2

    5. XM_054350986.1XP_054206961.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    6. XM_054351010.1XP_054206985.1  bridge-like lipid transfer protein family member 1 isoform X15

    7. XM_054350990.1XP_054206965.1  bridge-like lipid transfer protein family member 1 isoform X2

    8. XM_054351001.1XP_054206976.1  bridge-like lipid transfer protein family member 1 isoform X7

    9. XM_054350985.1XP_054206960.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    10. XM_054350991.1XP_054206966.1  bridge-like lipid transfer protein family member 1 isoform X2

    11. XM_054351002.1XP_054206977.1  bridge-like lipid transfer protein family member 1 isoform X7

    12. XM_054350988.1XP_054206963.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    13. XM_054350984.1XP_054206959.1  bridge-like lipid transfer protein family member 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T938
    14. XM_054350998.1XP_054206973.1  bridge-like lipid transfer protein family member 1 isoform X6

    15. XM_054350996.1XP_054206971.1  bridge-like lipid transfer protein family member 1 isoform X5

    16. XM_054350995.1XP_054206970.1  bridge-like lipid transfer protein family member 1 isoform X4

    17. XM_054351004.1XP_054206979.1  bridge-like lipid transfer protein family member 1 isoform X9

    18. XM_054351005.1XP_054206980.1  bridge-like lipid transfer protein family member 1 isoform X10

    19. XM_054351008.1XP_054206983.1  bridge-like lipid transfer protein family member 1 isoform X13

    20. XM_054351007.1XP_054206982.1  bridge-like lipid transfer protein family member 1 isoform X12

      UniProtKB/Swiss-Prot
      Q2LD37, Q4W598, Q5CZA9, Q6ZS70, Q6ZV75, Q86XA5, Q8WVD8, Q9H742, Q9NT48, Q9NTC3, Q9NTI4, Q9P2H6, Q9UPP3
    21. XM_054351012.1XP_054206987.1  bridge-like lipid transfer protein family member 1 isoform X17

    22. XM_054350994.1XP_054206969.1  bridge-like lipid transfer protein family member 1 isoform X3

    23. XM_054351006.1XP_054206981.1  bridge-like lipid transfer protein family member 1 isoform X11

    24. XM_054351009.1XP_054206984.1  bridge-like lipid transfer protein family member 1 isoform X14

    25. XM_054351014.1XP_054206989.1  bridge-like lipid transfer protein family member 1 isoform X19

    26. XM_054350997.1XP_054206972.1  bridge-like lipid transfer protein family member 1 isoform X6

    27. XM_054350989.1XP_054206964.1  bridge-like lipid transfer protein family member 1 isoform X2

    28. XM_054351024.1XP_054206999.1  bridge-like lipid transfer protein family member 1 isoform X29

    29. XM_054351011.1XP_054206986.1  bridge-like lipid transfer protein family member 1 isoform X16

    30. XM_054351000.1XP_054206975.1  bridge-like lipid transfer protein family member 1 isoform X7

    31. XM_054351013.1XP_054206988.1  bridge-like lipid transfer protein family member 1 isoform X18

    32. XM_054351016.1XP_054206991.1  bridge-like lipid transfer protein family member 1 isoform X21

    33. XM_054351020.1XP_054206995.1  bridge-like lipid transfer protein family member 1 isoform X25

    34. XM_054351021.1XP_054206996.1  bridge-like lipid transfer protein family member 1 isoform X26

    35. XM_054351022.1XP_054206997.1  bridge-like lipid transfer protein family member 1 isoform X27

    36. XM_054351023.1XP_054206998.1  bridge-like lipid transfer protein family member 1 isoform X28

    37. XM_054351003.1XP_054206978.1  bridge-like lipid transfer protein family member 1 isoform X8

    38. XM_054351015.1XP_054206990.1  bridge-like lipid transfer protein family member 1 isoform X20

    39. XM_054351017.1XP_054206992.1  bridge-like lipid transfer protein family member 1 isoform X22

    40. XM_054351018.1XP_054206993.1  bridge-like lipid transfer protein family member 1 isoform X23

    41. XM_054351019.1XP_054206994.1  bridge-like lipid transfer protein family member 1 isoform X24

    RNA

    1. XR_008487046.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032202.1: Suppressed sequence

      Description
      NM_032202.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.