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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers.
Title: Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Title: Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
KIAA1109 gene mutation in surviving patients with Alkuraya-Kucinskas syndrome: a review of literature.
Title: KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
KIAA1109 has an association with susceptibility to the development of moderate-to-severe asthma.
Title: Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome.
Title: KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Polymorphisms from the KIAA1109-interleukin 2 (IL2)-IL21 block in the 4q27 chromosome may contribute to the genetic susceptibility of ADs in the Tunisian population.
Title: Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population.
KIAA1109-rs4505848 polymorphism might be associated with the development of Behcet's disease.
Title: Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis.
The KIAA1109-TENR-IL2-IL21 gene cluster, that encodes an interleukin (IL-21) that plays an important role in Th17 cell biology, is the 20th locus for which there is a genome-wide level of support for association with rheumatoid arthritis.
Title: Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Disease activity, ANCA, and IL23R genotype status determine early response to infliximab in patients with ulcerative colitis.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S3100 (e-PCR)
- UniSTS:1378

D4S2628 (e-PCR)
- UniSTS:31604

SHGC-50429 (e-PCR)
- UniSTS:67190

D4S2477E (e-PCR)
- UniSTS:150953

G54558 (e-PCR)
- UniSTS:117696

RH122843 (e-PCR)
- UniSTS:135141

SHGC-67953 (e-PCR)
- UniSTS:42217

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

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Preferred Names: bridge-like lipid transfer protein family member 1

Names: fragile site-associated protein

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.

Genomic

NG_015813.3 RefSeqGene

Range

5002..215423

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001384125.1 → NP_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:4468 → 5075

FSA_C; Fragile site-associated protein C-terminus
NM_015312.4 → NP_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:4380 → 4987

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

122152331..122362752

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A7P0T938
XM_047416259.1 → XP_047272215.1 bridge-like lipid transfer protein family member 1 isoform X6
XM_047416258.1 → XP_047272214.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_047416255.1 → XP_047272211.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_047416252.1 → XP_047272208.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_047416268.1 → XP_047272224.1 bridge-like lipid transfer protein family member 1 isoform X15
XM_047416256.1 → XP_047272212.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_047416262.1 → XP_047272218.1 bridge-like lipid transfer protein family member 1 isoform X7
XM_047416251.1 → XP_047272207.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_047416257.1 → XP_047272213.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_047416263.1 → XP_047272219.1 bridge-like lipid transfer protein family member 1 isoform X7
XM_047416254.1 → XP_047272210.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_011532320.4 → XP_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:4468 → 5075

FSA_C; Fragile site-associated protein C-terminus
XM_047416260.1 → XP_047272216.1 bridge-like lipid transfer protein family member 1 isoform X6
XM_011532325.2 → XP_011530627.1 bridge-like lipid transfer protein family member 1 isoform X5

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4433 → 5040

FSA_C; Fragile site-associated protein C-terminus
XM_011532324.2 → XP_011530626.1 bridge-like lipid transfer protein family member 1 isoform X4

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4447 → 5054

FSA_C; Fragile site-associated protein C-terminus
XM_047416265.1 → XP_047272221.1 bridge-like lipid transfer protein family member 1 isoform X9
XM_005263282.2 → XP_005263339.1 bridge-like lipid transfer protein family member 1 isoform X10

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4401 → 5008

FSA_C; Fragile site-associated protein C-terminus
XM_017008695.2 → XP_016864184.1 bridge-like lipid transfer protein family member 1 isoform X13

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4366 → 4973

FSA_C; Fragile site-associated protein C-terminus
XM_005263287.2 → XP_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:4380 → 4987

FSA_C; Fragile site-associated protein C-terminus
XM_017008697.2 → XP_016864186.1 bridge-like lipid transfer protein family member 1 isoform X17

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4345 → 4952

FSA_C; Fragile site-associated protein C-terminus
XM_011532323.2 → XP_011530625.1 bridge-like lipid transfer protein family member 1 isoform X3

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4451 → 5058

FSA_C; Fragile site-associated protein C-terminus
XM_047416266.1 → XP_047272222.1 bridge-like lipid transfer protein family member 1 isoform X11
XM_047416267.1 → XP_047272223.1 bridge-like lipid transfer protein family member 1 isoform X14

Related

ENST00000684987.1
XM_047416271.1 → XP_047272227.1 bridge-like lipid transfer protein family member 1 isoform X19
XM_011532326.2 → XP_011530628.1 bridge-like lipid transfer protein family member 1 isoform X6

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4425 → 5032

FSA_C; Fragile site-associated protein C-terminus
XM_011532322.2 → XP_011530624.1 bridge-like lipid transfer protein family member 1 isoform X2

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4467 → 5074

FSA_C; Fragile site-associated protein C-terminus
XM_006714344.2 → XP_006714407.1 bridge-like lipid transfer protein family member 1 isoform X29

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:4379 → 4986

FSA_C; Fragile site-associated protein C-terminus
XM_047416269.1 → XP_047272225.1 bridge-like lipid transfer protein family member 1 isoform X16

Related

ENSP00000373390.4, ENST00000388738.8
XM_047416261.1 → XP_047272217.1 bridge-like lipid transfer protein family member 1 isoform X7
XM_047416270.1 → XP_047272226.1 bridge-like lipid transfer protein family member 1 isoform X18
XM_047416273.1 → XP_047272229.1 bridge-like lipid transfer protein family member 1 isoform X21
XM_047416275.1 → XP_047272231.1 bridge-like lipid transfer protein family member 1 isoform X25
XM_047416276.1 → XP_047272232.1 bridge-like lipid transfer protein family member 1 isoform X26
XM_047416277.1 → XP_047272233.1 bridge-like lipid transfer protein family member 1 isoform X27
XM_017008699.2 → XP_016864188.1 bridge-like lipid transfer protein family member 1 isoform X28

Related

ENST00000686075.1
XM_047416264.1 → XP_047272220.1 bridge-like lipid transfer protein family member 1 isoform X8
XM_047416272.1 → XP_047272228.1 bridge-like lipid transfer protein family member 1 isoform X20
XM_011532330.2 → XP_011530632.1 bridge-like lipid transfer protein family member 1 isoform X22

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:3885 → 4492

FSA_C; Fragile site-associated protein C-terminus
XM_024454243.1 → XP_024310011.1 bridge-like lipid transfer protein family member 1 isoform X23

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:3852 → 4459

FSA_C; Fragile site-associated protein C-terminus
XM_017008698.2 → XP_016864187.1 bridge-like lipid transfer protein family member 1 isoform X24

UniProtKB/TrEMBL

A0A8J8Z0T9

Conserved Domains (1) summary

pfam10479
Location:3545 → 4152

FSA_C; Fragile site-associated protein C-terminus

RNA

XR_938783.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

125456397..125666898

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A7P0T938
XM_054350999.1 → XP_054206974.1 bridge-like lipid transfer protein family member 1 isoform X6
XM_054350993.1 → XP_054206968.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_054350992.1 → XP_054206967.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_054350986.1 → XP_054206961.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_054351010.1 → XP_054206985.1 bridge-like lipid transfer protein family member 1 isoform X15
XM_054350990.1 → XP_054206965.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_054351001.1 → XP_054206976.1 bridge-like lipid transfer protein family member 1 isoform X7
XM_054350985.1 → XP_054206960.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_054350991.1 → XP_054206966.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_054351002.1 → XP_054206977.1 bridge-like lipid transfer protein family member 1 isoform X7
XM_054350988.1 → XP_054206963.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_054350984.1 → XP_054206959.1 bridge-like lipid transfer protein family member 1 isoform X1

UniProtKB/TrEMBL

A0A7P0T938
XM_054350998.1 → XP_054206973.1 bridge-like lipid transfer protein family member 1 isoform X6
XM_054350996.1 → XP_054206971.1 bridge-like lipid transfer protein family member 1 isoform X5
XM_054350995.1 → XP_054206970.1 bridge-like lipid transfer protein family member 1 isoform X4
XM_054351004.1 → XP_054206979.1 bridge-like lipid transfer protein family member 1 isoform X9
XM_054351005.1 → XP_054206980.1 bridge-like lipid transfer protein family member 1 isoform X10
XM_054351008.1 → XP_054206983.1 bridge-like lipid transfer protein family member 1 isoform X13
XM_054351007.1 → XP_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
XM_054351012.1 → XP_054206987.1 bridge-like lipid transfer protein family member 1 isoform X17
XM_054350994.1 → XP_054206969.1 bridge-like lipid transfer protein family member 1 isoform X3
XM_054351006.1 → XP_054206981.1 bridge-like lipid transfer protein family member 1 isoform X11
XM_054351009.1 → XP_054206984.1 bridge-like lipid transfer protein family member 1 isoform X14
XM_054351014.1 → XP_054206989.1 bridge-like lipid transfer protein family member 1 isoform X19
XM_054350997.1 → XP_054206972.1 bridge-like lipid transfer protein family member 1 isoform X6
XM_054350989.1 → XP_054206964.1 bridge-like lipid transfer protein family member 1 isoform X2
XM_054351024.1 → XP_054206999.1 bridge-like lipid transfer protein family member 1 isoform X29
XM_054351011.1 → XP_054206986.1 bridge-like lipid transfer protein family member 1 isoform X16
XM_054351000.1 → XP_054206975.1 bridge-like lipid transfer protein family member 1 isoform X7
XM_054351013.1 → XP_054206988.1 bridge-like lipid transfer protein family member 1 isoform X18
XM_054351016.1 → XP_054206991.1 bridge-like lipid transfer protein family member 1 isoform X21
XM_054351020.1 → XP_054206995.1 bridge-like lipid transfer protein family member 1 isoform X25
XM_054351021.1 → XP_054206996.1 bridge-like lipid transfer protein family member 1 isoform X26
XM_054351022.1 → XP_054206997.1 bridge-like lipid transfer protein family member 1 isoform X27
XM_054351023.1 → XP_054206998.1 bridge-like lipid transfer protein family member 1 isoform X28
XM_054351003.1 → XP_054206978.1 bridge-like lipid transfer protein family member 1 isoform X8
XM_054351015.1 → XP_054206990.1 bridge-like lipid transfer protein family member 1 isoform X20
XM_054351017.1 → XP_054206992.1 bridge-like lipid transfer protein family member 1 isoform X22
XM_054351018.1 → XP_054206993.1 bridge-like lipid transfer protein family member 1 isoform X23
XM_054351019.1 → XP_054206994.1 bridge-like lipid transfer protein family member 1 isoform X24

RNA

XR_008487046.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.