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

Gene ID: 84162, updated on 2-Nov-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
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Try the new Transcript table

Genomic context

See BLTP1 in Genome Data Viewer
Location:
4q27
Exon count:
96
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122152331..122362752)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (125456397..125666898)
RS_2024_09 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 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_2024_08

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.