BLTP1
Bridge-like lipid transfer protein family member 1
Also known as: BLTP1_HUMAN, FLJ21404, FSA, KIAA1109, KIAA1371, Tweek
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q2LD37
- Gene
- BLTP1
- Ensembl
- ENSG00000138688
- Chromosome
- 4
- Canonical length
- 5005 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Centrosome
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
5005 residues, UniProt reviewed canonical sequence.
>Q2LD37|BLTP1
1 MDQRKNESIV PSITQLEDFL TEHNSNVVWL LVATILSCGW IIYLTYYNSR NVGLILTLVL
61 NRLYKHGYIH IGSFSFSVLS GKVMVREIYY ITEDMSIRIQ DGFIIFRWWK MYNPKQKQHD
121 PKAETRLYIT VNDFEFHVYN RSDLYGRLQE LFGLEPTIIP PKKDDDKTRE IGRTRTQSKI
181 ERVKVKTESQ DPTSSWRSLI PVIKVNVSTG RLAFGNHYQP QTLCINFDDA FLTYTTKPPS
241 SHLDQFMHIV KGKLENVRVM LVPSPRYVGL QNDEPPRLMG EGFVVMQSND VDIYYYMDEP
301 GLVPEETEEN IEGEMSSEDC KLQDLPPCWG LDIVCGKGTD FNYGPWADRQ RDCLWKFFFP
361 PDYQVLKVSE IAQPGRPRQI LAFELRMNII ADATIDLLFT KNRETNAVHV NVGAGSYLEI
421 NIPMTVEENG YTPAIKGQLL HVDATTSMQY RTLLEAEMLA FHINASYPRI WNMPQTWQCE
481 LEVYKATYHF IFAQKNFFTD LIQDWSSDSP PDIFSFVPYT WNFKIMFHQF EMIWAANQHN
541 WIDCSTKQQE NVYLAACGET LNIDFSLPFT DFVPATCNTK FSLRGEDVDL HLFLPDCHPS
601 KYSLFMLVKN CHPNKMIHDT GIPAECQSGQ KTVKPKWRNV TQEKSGWVEC WTVPSVMLTI
661 DYTWHPIYPQ KADEQLKQSL SEMEETMLSV LRPSQKTSDR VVSSPSTSSR PPIDPSELPP
721 DKLHVEMELS PDSQITLYGP LLNAFLCIKE NYFGEDDMYM DFEEVISSPV LSLSTSSSSG
781 WTAVGMENDK KENEGSAKSI HPLALRPWDI TVLVNLYKVH GRLPVHGTTD GPECPTAFLE
841 RLCFEMKKGF RETMLQLILS PLNVFVSDNY QQRPPVDEVL REGHINLSGL QLRAHAMFSA
901 EGLPLGSDSL EYAWLIDVQA GSLTAKVTAP QLACLLEWGQ TFVFHVVCRE YELERPKSVI
961 ICQHGIDRRF CESKLSCIPG PCPTSDDLKY TMIRLAVDGA DIYIVEHGCA TNIKMGAIRV
1021 ANCNLHNQSV GEGISAAIQD FQVRQYIEQL NNCRIGLQPA VLRRAYWLEA GSANLGLITV
1081 DIALAADHHS KHEAQRHFLE THDARTKRLW FLWPDDILKN KRCRNKCGCL GGCRFFGGTV
1141 TGLDFFKLEE LTPSSSSAFS STSAESDMYY GQSLLQPGEW IITKEIPKII DGNVNGMKRK
1201 EWENKSVGIE VERKTQHLSL QVPLRSHSSS SSSEENSSSS AAQPLLAGEK ESPSSVADDH
1261 LVQKEFLHGT KRDDGQASIP TEISGNSPVS PNTQDKSVGQ SPLRSPLKRQ ASVCSTRLGS
1321 TKSLTAAFYG DKQPVTVGVQ FSSDVSRSDE NVLDSPKQRR SFGSFPYTPS ADSNSFHQYR
1381 SMDSSMSMAD SEAYFSAAEE FEPISSDEGP GTYPGRKKKK KQTQQIDYSR GSIYHSVEGP
1441 LTGHGESIQD SRTLPFKTHP SQASFVSALG GEDDVIEHLY IVEGEKTVES EQITPQQPVM
1501 NCYQTYLTQF QVINWSVKHP TNKRTSKSSL HRPLDLDTPT SEESSSSFEQ LSVPTFKVIK
1561 QGLTANSLLD RGMQLSGSTS NTPYTPLEKK LADNTDDETL TEEWTLDQPV SQTRTTAIVE
1621 VKGTVDIVLT PLVAEALDRY IEAMVHCAST RHPAAIVDDL HAKVLREAVQ NSKTTFSENL
1681 SSKQDIRGTK TEQSTIGTTN QGQAQTNLTM KQDNVTIKGL QTNVSIPKVN LCLLQASVEE
1741 SPTTAPSRSV THVSLVALCF DRIATQVRMN RGVVEETSNN AEPGRTSNFD RYVHATKMQP
1801 QSSGSLRSNA GAEKGKEIAA KLNIHRVHGQ LRGLDTTDIG TCAITAIPFE KSKVLFTLEE
1861 LDEFTFVDET DQQAVPDVTR IGPSQEKWGW IMFECGLENL TIKGGRQSGA VLYNSFGIMG
1921 KASDTERGGV LTSNNSSDSP TGSGYNTDVS DDNLPCDRTS PSSDLNGNSV SDEQDEGVES
1981 DDLKKDLPLM PPPPDSCSMK LTIKEIWFSF AAPTNVRSHT HAFSRQLNLL STATPAVGAW
2041 LVPIDQLKSS LNKLETEGTL RICAVMGCIM TEALENKSVH FPLRSKYNRL TKVARFLQEN
2101 PSCLLCNILH HYLHQANYSI IDDATMSDGL PALVTLKKGL VALARQWMKF IVVTPAFKGV
2161 SLHRPAQPLK PQIAMDHEHE DGLGLDNGGG LQSDTSADGA EFEFDAATVS EHTMLLEGTA
2221 NRPPPGSSGP VTGAEIMRKL SKTHTHSDSA LKIKGIHPYH SLSYTSGDTA TDSPVHVGRA
2281 GMPVKDSPRK ESLLSYLTGS FPSLHNLLEG TPQRSSAAVK SSSLTRTGNT VATDMLSEHP
2341 LLSEPSSVSF YNWMSNAVGN RGSVLQESPV TKSGHNSLPT GVAPNLPTIP SASDFNTVLS
2401 SDQNTLDGTH SQHSTSQDDV AGVEEANQGF PAVQLADAQV VFKPLLSHTG IQSQDTMPFC
2461 YRMYFGEHLS FSGTLDCLRA DIVDSDTAKE RKGKRARRQG HVNLPPLEFK PALMLGTFSI
2521 SAVVMEKSVC TPQNSTSALS FHDLSKRYYN TFHCNFTISC QSISQHVDMA LVRLIHQFST
2581 MIDDIKATQT DIKLSRYTAG SASPTPTFKT RKHRDFRSSD FSRSSRGSLN GGNRVNNAKN
2641 KRTNNENNKK ESRNKNSLGR SERRTSKVSR KGSKDVVDHM TIHMDDSDSI TVSEQSEPSA
2701 ECWQNMYKLL NFYSLISDPT GILEKSSETF GPAGVRSPTE PTCKVVFENE QDNSSLTKTQ
2761 RKRSLVTSEP QHVTLIVFGI GMVNRTHLEA DIGGLTMESE LKRIHGSFTL KEKMKDVLHQ
2821 KMTETCATAH IGGVNIVLLE GITPNIQLED FPTSPTSTAK QEFLTVVKCS IAKSQALYSA
2881 QRGLKTNNAA VFKVGAISIN IPQHPATLHS MMVRSSHQLS KQISDLIRQP STAPQPVKED
2941 IATPLPSEKT PTSVNQTPVE TNEFPQLPEG LEKKPIVLKF SAMLDGIAIG AALLPSLKAE
3001 YKMGRMRSHG MTGAQTRFTF ELPNHRLRFT SKVSATDMST IPPSASLNLP PVTMSGKYIM
3061 EEHDSYSDQV WSIDELPSKQ GYYLQGNYLR CVAEVGSFEH NLTTDLLNHL VFVQKVFMKE
3121 VNEVIQKVSG GEQPIPLWNE HDGTADGDKP KILLYSLNLQ FKGIQVTATT PSMRAVRFET
3181 GLIELELSNR LQTKASPGSS SYLKLFGKCQ VDLNLALGQI VKHQVYEEAG SDFHQVAYFK
3241 TRIGLRNALR EEISGSSDRE AVLITLNRPI VYAQPVAFDR AVLFWLNYKA AYDNWNEQRM
3301 ALHKDIHMAT KEVVDMLPGI QQTSAQAFGT LFLQLTVNDL GICLPITNTA QSNHTGDLDT
3361 GSALVLTIES TLITACSSES LVSKGHFKNF CIRFADGFET SWDDWKPEIH GDLVMNACVV
3421 PDGTYEVCSR TTGQAAAESS SAGTWTLNVL WKMCGIDVHM DPNIGKRLNA LGNTLTTLTG
3481 EEDIDDIADL NSVNIADLSD EDEVDTMSPT IHTEATDYRR QAASASQPGE LRGRKIMKRI
3541 VDIRELNEQA KVIDDLKKLG ASEGTINQEI QRYQQLESVA VNDIRRDVRK KLRRSSMRAA
3601 SLKDKWGLSY KPSYSRSKSI SASGRPPLKR MERASSRVGE TEELPEIRVD AASPGPRVTF
3661 NIQDTFPEET ELDLLSVTIE GPSHYSSNSE GSCSVFSSPK TPGGFSPGIP FQTEEGRRDD
3721 SLSSTSEDSE KDEKDEDHER ERFYIYRKPS HTSRKKATGF AAVHQLFTER WPTTPVNRSL
3781 SGTATERNID FELDIRVEID SGKCVLHPTT LLQEHDDISL RRSYDRSSRS LDQDSPSKKK
3841 KFQTNYASTT HLMTGKKVPS SLQTKPSDLE TTVFYIPGVD VKLHYNSKTL KTESPNASRG
3901 SSLPRTLSKE SKLYGMKDSA TSPPSPPLPS TVQSKTNTLL PPQPPPIPAA KGKGSGGVKT
3961 AKLYAWVALQ SLPEEMVISP CLLDFLEKAL ETIPITPVER NYTAVSSQDE DMGHFEIPDP
4021 MEESTTSLVS SSTSAYSSFP VDVVVYVRVQ PSQIKFSCLP VSRVECMLKL PSLDLVFSSN
4081 RGELETLGTT YPAETLSPGG NATQSGTKTS ASKTGIPGSS GLGSPLGRSR HSSSQSDLTS
4141 SSSSSSGLSF TACMSDFSLY VFHPYGAGKQ KTAVSGLTPG SGGLGNVDEE PTSVTGRKDS
4201 LSINLEFVKV SLSRIRRSGG ASFFESQSVS KSASKMDTTL INISAVCDIG SASFKYDMRR
4261 LSEILAFPRA WYRRSIARRL FLGDQTINLP TSGPGTPDSI EGVSQHLSPE SSRKAYCKTW
4321 EQPSQSASFT HMPQSPNVFN EHMTNSTMSP GTVGQSLKSP ASIRSRSVSD SSVPRRDSLS
4381 KTSTPFNKSN KAASQQGTPW ETLVVFAINL KQLNVQMNMS NVMGNTTWTT SGLKSQGRLS
4441 VGSNRDREIS MSVGLGRSQL DSKGGVVGGT IDVNALEMVA HISEHPNQQP SHKIQITMGS
4501 TEARVDYMGS SILMGIFSNA DLKLQDEWKV NLYNTLDSSI TDKSEIFVHG DLKWDIFQVM
4561 ISRSTTPDLI KIGMKLQEFF TQQFDTSKRA LSTWGPVPYL PPKTMTSNLE KSSQEQLLDA
4621 AHHRHWPGVL KVVSGCHISL FQIPLPEDGM QFGGSMSLHG NHMTLACFHG PNFRSKSWAL
4681 FHLEEPNIAF WTEAQKIWED GSSDHSTYIV QTLDFHLGHN TMVTKPCGAL ESPMATITKI
4741 TRRRHENPPH GVASVKEWFN YVTATRNEEL NLLRNVDANN TENSTTVKNS SLLSGFRGGS
4801 SYNHETETIF ALPRMQLDFK SIHVQEPQEP SLQDASLKPK VECSVVTEFT DHICVTMDAE
4861 LIMFLHDLVS AYLKEKEKAI FPPRILSTRP GQKSPIIIHD DNSSDKDRED SITYTTVDWR
4921 DFMCNTWHLE PTLRLISWTG RKIDPVGVDY ILQKLGFHHA RTTIPKWLQR GVMDPLDKVL
4981 SVLIKKLGTA LQDEKEKKGK DKEEHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BLTP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- retina: 58 nTPM
- parathyroid gland: 40 nTPM
- skeletal muscle: 39 nTPM
- bone marrow: 37 nTPM
- choroid plexus: 32 nTPM
- tongue: 32 nTPM
Single-cell type
- neutrophil progenitors: 838 nCPM
- thyrotrophs: 530 nCPM
- neutrophils: 520 nCPM
- gonadotrophs: 455 nCPM
- pituicytes/fscs: 445 nCPM
- lactotrophs: 435 nCPM
Immune cell
- eosinophil: 1.9 nTPM
- intermediate monocyte: 0.8 nTPM
- naive B-cell: 0.8 nTPM
- neutrophil: 0.7 nTPM
- MAIT T-cell: 0.5 nTPM
- basophil: 0.3 nTPM
Brain region
- choroid plexus: 87 nTPM
- medulla oblongata: 72 nTPM
- white matter: 72 nTPM
- cerebral cortex: 67 nTPM
- midbrain: 66 nTPM
- thalamus: 66 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BLTP1.
Disease | AllUniProt
Conditions BLTP1 is implicated in, by any mechanism.
- Alkuraya-Kucinskas syndrome (ALKKUCS) MIM:617822
Disease | GeneticClinVar
55 pathogenic / likely-pathogenic of 869 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Alkuraya-Kucinskas syndrome
- Arthrogryposis multiplex congenita
- BLTP1-related disorder
- Clubfoot
- Severe hydrocephalus
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- endocytic recycling
- endosomal transport
- intermembrane lipid transfer
- phagocytosis
- regulation of cell growth
- regulation of epithelial cell differentiation
- synaptic vesicle endocytosis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Bridge-like lipid transfer protein family member 1
- Bridge-like lipid transfer protein family member 1, N-terminal
- Bridge-like lipid transfer protein family member 1, middle region
- Bridge-like lipid transfer protein family member 1, C-terminal
- BLTP1-like family N-terminal region
- BLTP1-like family middle region
- BLTP1-like family C-terminal region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BLTP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
- LTAP1
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BLTP1 as an antibody target. Whether an autoantibody or antibody against BLTP1 could matter depends on whether native BLTP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BLTP1 is annotated at the cell surface, where native BLTP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label BLTP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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