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

Gene ID: 84162, updated on 28-Sep-2022

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
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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
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122152331..122362752)
110 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 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

Homology

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
PubMed 
Component Evidence Code Pubs
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 nucleus NAS
Non-traceable Author Statement
more info
PubMed 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein KIAA1109
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  transmembrane protein KIAA1109 isoform

    Status: REVIEWED

    Source sequence(s)
    AC022489, AC104658, AC127089
    UniProtKB/TrEMBL
    A0A7P0T938
    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  transmembrane protein KIAA1109 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, Q9UPP3
    Conserved Domains (1) summary
    pfam10479
    Location:43804987
    FSA_C; Fragile site-associated protein C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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  transmembrane protein KIAA1109 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T938
  2. XM_047416259.1XP_047272215.1  transmembrane protein KIAA1109 isoform X6

  3. XM_047416258.1XP_047272214.1  transmembrane protein KIAA1109 isoform X2

  4. XM_047416255.1XP_047272211.1  transmembrane protein KIAA1109 isoform X2

  5. XM_047416252.1XP_047272208.1  transmembrane protein KIAA1109 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T938
  6. XM_047416268.1XP_047272224.1  transmembrane protein KIAA1109 isoform X15

  7. XM_047416256.1XP_047272212.1  transmembrane protein KIAA1109 isoform X2

  8. XM_047416262.1XP_047272218.1  transmembrane protein KIAA1109 isoform X7

  9. XM_047416251.1XP_047272207.1  transmembrane protein KIAA1109 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T938
  10. XM_047416257.1XP_047272213.1  transmembrane protein KIAA1109 isoform X2

  11. XM_047416263.1XP_047272219.1  transmembrane protein KIAA1109 isoform X7

  12. XM_047416254.1XP_047272210.1  transmembrane protein KIAA1109 isoform X1

    UniProtKB/TrEMBL
    A0A7P0T938
  13. XM_011532320.4XP_011530622.1  transmembrane protein KIAA1109 isoform X1

    See identical proteins and their annotated locations for XP_011530622.1

    UniProtKB/TrEMBL
    A0A7P0T938
    Conserved Domains (1) summary
    pfam10479
    Location:44685075
    FSA_C; Fragile site-associated protein C-terminus
  14. XM_047416260.1XP_047272216.1  transmembrane protein KIAA1109 isoform X6

  15. XM_011532325.2XP_011530627.1  transmembrane protein KIAA1109 isoform X5

    Conserved Domains (1) summary
    pfam10479
    Location:44335040
    FSA_C; Fragile site-associated protein C-terminus
  16. XM_011532324.2XP_011530626.1  transmembrane protein KIAA1109 isoform X4

    Conserved Domains (1) summary
    pfam10479
    Location:44475054
    FSA_C; Fragile site-associated protein C-terminus
  17. XM_047416265.1XP_047272221.1  transmembrane protein KIAA1109 isoform X9

  18. XM_005263282.2XP_005263339.1  transmembrane protein KIAA1109 isoform X10

    Conserved Domains (1) summary
    pfam10479
    Location:44015008
    FSA_C; Fragile site-associated protein C-terminus
  19. XM_017008695.2XP_016864184.1  transmembrane protein KIAA1109 isoform X13

    Conserved Domains (1) summary
    pfam10479
    Location:43664973
    FSA_C; Fragile site-associated protein C-terminus
  20. XM_005263287.2XP_005263344.1  transmembrane protein KIAA1109 isoform X12

    See identical proteins and their annotated locations for XP_005263344.1

    UniProtKB/Swiss-Prot
    Q2LD37, Q9UPP3
    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  transmembrane protein KIAA1109 isoform X17

    Conserved Domains (1) summary
    pfam10479
    Location:43454952
    FSA_C; Fragile site-associated protein C-terminus
  22. XM_011532323.2XP_011530625.1  transmembrane protein KIAA1109 isoform X3

    Conserved Domains (1) summary
    pfam10479
    Location:44515058
    FSA_C; Fragile site-associated protein C-terminus
  23. XM_047416266.1XP_047272222.1  transmembrane protein KIAA1109 isoform X11

  24. XM_047416267.1XP_047272223.1  transmembrane protein KIAA1109 isoform X14

    Related
    ENST00000684987.1
  25. XM_047416271.1XP_047272227.1  transmembrane protein KIAA1109 isoform X19

  26. XM_011532326.2XP_011530628.1  transmembrane protein KIAA1109 isoform X6

    Conserved Domains (1) summary
    pfam10479
    Location:44255032
    FSA_C; Fragile site-associated protein C-terminus
  27. XM_011532322.2XP_011530624.1  transmembrane protein KIAA1109 isoform X2

    Conserved Domains (1) summary
    pfam10479
    Location:44675074
    FSA_C; Fragile site-associated protein C-terminus
  28. XM_006714344.2XP_006714407.1  transmembrane protein KIAA1109 isoform X29

    UniProtKB/Swiss-Prot
    Q2LD37
    Conserved Domains (1) summary
    pfam10479
    Location:43794986
    FSA_C; Fragile site-associated protein C-terminus
  29. XM_047416269.1XP_047272225.1  transmembrane protein KIAA1109 isoform X16

    Related
    ENSP00000373390.4, ENST00000388738.8
  30. XM_047416261.1XP_047272217.1  transmembrane protein KIAA1109 isoform X7

  31. XM_047416270.1XP_047272226.1  transmembrane protein KIAA1109 isoform X18

  32. XM_047416273.1XP_047272229.1  transmembrane protein KIAA1109 isoform X21

  33. XM_047416275.1XP_047272231.1  transmembrane protein KIAA1109 isoform X25

  34. XM_047416276.1XP_047272232.1  transmembrane protein KIAA1109 isoform X26

  35. XM_047416277.1XP_047272233.1  transmembrane protein KIAA1109 isoform X27

  36. XM_017008699.2XP_016864188.1  transmembrane protein KIAA1109 isoform X28

    Related
    ENST00000686075.1
  37. XM_047416264.1XP_047272220.1  transmembrane protein KIAA1109 isoform X8

  38. XM_047416272.1XP_047272228.1  transmembrane protein KIAA1109 isoform X20

  39. XM_011532330.2XP_011530632.1  transmembrane protein KIAA1109 isoform X22

    Conserved Domains (1) summary
    pfam10479
    Location:38854492
    FSA_C; Fragile site-associated protein C-terminus
  40. XM_024454243.1XP_024310011.1  transmembrane protein KIAA1109 isoform X23

    Conserved Domains (1) summary
    pfam10479
    Location:38524459
    FSA_C; Fragile site-associated protein C-terminus
  41. XM_017008698.2XP_016864187.1  transmembrane protein KIAA1109 isoform X24

    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)

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.