Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84162
Gene name	Bridge-like lipid transfer protein family member 1
Gene symbol	BLTP1
Synonyms (NCBI Gene)	ALKKUCSFSAKIAA1109Tweek
Chromosome	4
Chromosome location	4q27

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882245	T>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs770791100	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs775516790	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs777407076	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs886041465	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1051597475	C>T	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs1460624416	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554025656	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554059454	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1579206545	A>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant

187

Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018363	hsa-miR-335-5p	Microarray	18185580
MIRT041900	hsa-miR-484	CLASH	23622248
MIRT039681	hsa-miR-615-3p	CLASH	23622248
MIRT163985	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT163987	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT163994	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT163995	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT164004	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT163999	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT502162	hsa-miR-944	PAR-CLIP	21572407
MIRT163998	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT164012	hsa-miR-4528	PAR-CLIP	21572407
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT502161	hsa-miR-1286	PAR-CLIP	21572407
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT502159	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163985	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT163987	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT163994	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT163995	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT164004	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT163999	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT502162	hsa-miR-944	PAR-CLIP	24398324
MIRT163998	hsa-miR-410-3p	PAR-CLIP	24398324
MIRT164012	hsa-miR-4528	PAR-CLIP	24398324
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT502161	hsa-miR-1286	PAR-CLIP	24398324
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT502159	hsa-miR-340-5p	PAR-CLIP	24398324
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT164002	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT163987	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT163985	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT163987	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT163994	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT163995	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT164004	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT163999	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT502162	hsa-miR-944	PAR-CLIP	21572407
MIRT163998	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT164012	hsa-miR-4528	PAR-CLIP	21572407
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT502161	hsa-miR-1286	PAR-CLIP	21572407
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT502159	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163985	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT163987	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT163994	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT163995	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT164004	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT163999	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT502162	hsa-miR-944	PAR-CLIP	24398324
MIRT163998	hsa-miR-410-3p	PAR-CLIP	24398324
MIRT164012	hsa-miR-4528	PAR-CLIP	24398324
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT502161	hsa-miR-1286	PAR-CLIP	24398324
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT502159	hsa-miR-340-5p	PAR-CLIP	24398324
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT1088863	hsa-miR-1184	CLIP-seq
MIRT1088864	hsa-miR-1205	CLIP-seq
MIRT1088865	hsa-miR-128	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088867	hsa-miR-219-2-3p	CLIP-seq
MIRT1088868	hsa-miR-23a	CLIP-seq
MIRT1088869	hsa-miR-23b	CLIP-seq
MIRT1088870	hsa-miR-23c	CLIP-seq
MIRT1088871	hsa-miR-25	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT1088875	hsa-miR-3065-5p	CLIP-seq
MIRT1088876	hsa-miR-3158-5p	CLIP-seq
MIRT1088877	hsa-miR-3166	CLIP-seq
MIRT1088878	hsa-miR-32	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088881	hsa-miR-3591-5p	CLIP-seq
MIRT1088882	hsa-miR-3613-3p	CLIP-seq
MIRT1088883	hsa-miR-363	CLIP-seq
MIRT1088884	hsa-miR-367	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088887	hsa-miR-4263	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088892	hsa-miR-4727-3p	CLIP-seq
MIRT1088893	hsa-miR-4771	CLIP-seq
MIRT1088894	hsa-miR-4778-5p	CLIP-seq
MIRT1088895	hsa-miR-4799-5p	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088898	hsa-miR-544	CLIP-seq
MIRT1088899	hsa-miR-548n	CLIP-seq
MIRT1088900	hsa-miR-548t	CLIP-seq
MIRT1088901	hsa-miR-576-5p	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088903	hsa-miR-92a	CLIP-seq
MIRT1088904	hsa-miR-92b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT2023510	hsa-miR-1264	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT2023511	hsa-miR-338-5p	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088881	hsa-miR-3591-5p	CLIP-seq
MIRT2023512	hsa-miR-3618	CLIP-seq
MIRT2023513	hsa-miR-375	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088892	hsa-miR-4727-3p	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088863	hsa-miR-1184	CLIP-seq
MIRT1088864	hsa-miR-1205	CLIP-seq
MIRT2254404	hsa-miR-1208	CLIP-seq
MIRT2023510	hsa-miR-1264	CLIP-seq
MIRT1088865	hsa-miR-128	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088867	hsa-miR-219-2-3p	CLIP-seq
MIRT1088871	hsa-miR-25	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT2254405	hsa-miR-3134	CLIP-seq
MIRT1088876	hsa-miR-3158-5p	CLIP-seq
MIRT1088877	hsa-miR-3166	CLIP-seq
MIRT1088878	hsa-miR-32	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT2254406	hsa-miR-340	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088882	hsa-miR-3613-3p	CLIP-seq
MIRT2023512	hsa-miR-3618	CLIP-seq
MIRT1088883	hsa-miR-363	CLIP-seq
MIRT1088884	hsa-miR-367	CLIP-seq
MIRT2023513	hsa-miR-375	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT2254407	hsa-miR-4420	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT2254408	hsa-miR-4534	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT2254409	hsa-miR-4672	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088893	hsa-miR-4771	CLIP-seq
MIRT1088894	hsa-miR-4778-5p	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088898	hsa-miR-544	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088903	hsa-miR-92a	CLIP-seq
MIRT1088904	hsa-miR-92b	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT2254409	hsa-miR-4672	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT2556841	hsa-miR-3651	CLIP-seq
MIRT2556842	hsa-miR-4719	CLIP-seq
MIRT2556843	hsa-miR-520d-5p	CLIP-seq
MIRT2556844	hsa-miR-524-5p	CLIP-seq
MIRT2556845	hsa-miR-561	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	17190194
GO:0005515	Function	Protein binding	IPI	20195357
GO:0005634	Component	Nucleus	NAS	17190194
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006909	Process	Phagocytosis	IMP	31540829
GO:0015914	Process	Phospholipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	16632497
GO:0016197	Process	Endosomal transport	IMP	30906834
GO:0030856	Process	Regulation of epithelial cell differentiation	NAS	17190194
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032456	Process	Endocytic recycling	IMP	30906834
GO:0048488	Process	Synaptic vesicle endocytosis	IBA
GO:0098793	Component	Presynapse	IEA
GO:0120009	Process	Intermembrane lipid transfer	ISS
GO:0140268	Component	Endoplasmic reticulum-plasma membrane contact site	ISS
GO:1904121	Function	Phosphatidylethanolamine transfer activity	ISS

MIM	HGNC	e!Ensembl
611565	26953	ENSG00000138688

Q2LD37

Protein name

Bridge-like lipid transfer protein family member 1 (Fragile site-associated protein)

Protein function

Tube-forming lipid transport protein which provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (Probable). Plays a role in endosomal trafficking and endosome recycling. Also invo

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10479	FSA_C	4384 → 4902	Fragile site-associated protein C-terminus	Family
PF10479	FSA_C	4898 → 4989	Fragile site-associated protein C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis and ovary. Weakly or not expressed in other tissues. {ECO:0000269|PubMed:16545529}.

Sequence

MDQRKNESIVPSITQLEDFLTEHNSNVVWLLVATILSCGWIIYLTYYNSRNVGLILTLVL
NRLYKHGYIHIGSFSFSVLSGKVMVREIYYITEDMSIRIQDGFIIFRWWKMYNPKQKQHD
PKAETRLYITVNDFEFHVYNRSDLYGRLQELFGLEPTIIPPKKDDDKTREIGRTRTQSKI
ERVKVKTESQDPTSSWRSLIPVIKVNVSTGRLAFGNHYQPQTLCINFDDAFLTYTTKPPS
SHLDQFMHIVKGKLENVRVMLVPSPRYVGLQNDEPPRLMGEGFVVMQSNDVDIYYYMDEP
GLVPEETEENIEGEMSSEDCKLQDLPPCWGLDIVCGKGTDFNYGPWADRQRDCLWKFFFP
PDYQVLKVSEIAQPGRPRQILAFELRMNIIADATIDLLFTKNRETNAVHVNVGAGSYLEI
NIPMTVEENGYTPAIKGQLLHVDATTSMQYRTLLEAEMLAFHINASYPRIWNMPQTWQCE
LEVYKATYHFIFAQKNFFTDLIQDWSSDSPPDIFSFVPYTWNFKIMFHQFEMIWAANQHN
WIDCSTKQQENVYLAACGETLNIDFSLPFTDFVPATCNTKFSLRGEDVDLHLFLPDCHPS
KYSLFMLVKNCHPNKMIHDTGIPAECQSGQKTVKPKWRNVTQEKSGWVECWTVPSVMLTI
DYTWHPIYPQKADEQLKQSLSEMEETMLSVLRPSQKTSDRVVSSPSTSSRPPIDPSELPP
DKLHVEMELSPDSQITLYGPLLNAFLCIKENYFGEDDMYMDFEEVISSPVLSLSTSSSSG
WTAVGMENDKKENEGSAKSIHPLALRPWDITVLVNLYKVHGRLPVHGTTDGPECPTAFLE
RLCFEMKKGFRETMLQLILSPLNVFVSDNYQQRPPVDEVLREGHINLSGLQLRAHAMFSA
EGLPLGSDSLEYAWLIDVQAGSLTAKVTAPQLACLLEWGQTFVFHVVCREYELERPKSVI
ICQHGIDRRFCESKLSCIPGPCPTSDDLKYTMIRLAVDGADIYIVEHGCATNIKMGAIRV
ANCNLHNQSVGEGISAAIQDFQVRQYIEQLNNCRIGLQPAVLRRAYWLEAGSANLGLITV
DIALAADHHSKHEAQRHFLETHDARTKRLWFLWPDDILKNKRCRNKCGCLGGCRFFGGTV
TGLDFFKLEELTPSSSSAFSSTSAESDMYYGQSLLQPGEWIITKEIPKIIDGNVNGMKRK
EWENKSVGIEVERKTQHLSLQVPLRSHSSSSSSEENSSSSAAQPLLAGEKESPSSVADDH
LVQKEFLHGTKRDDGQASIPTEISGNSPVSPNTQDKSVGQSPLRSPLKRQASVCSTRLGS
TKSLTAAFYGDKQPVTVGVQFSSDVSRSDENVLDSPKQRRSFGSFPYTPSADSNSFHQYR
SMDSSMSMADSEAYFSAAEEFEPISSDEGPGTYPGRKKKKKQTQQIDYSRGSIYHSVEGP
LTGHGESIQDSRTLPFKTHPSQASFVSALGGEDDVIEHLYIVEGEKTVESEQITPQQPVM
NCYQTYLTQFQVINWSVKHPTNKRTSKSSLHRPLDLDTPTSEESSSSFEQLSVPTFKVIK
QGLTANSLLDRGMQLSGSTSNTPYTPLEKKLADNTDDETLTEEWTLDQPVSQTRTTAIVE
VKGTVDIVLTPLVAEALDRYIEAMVHCASTRHPAAIVDDLHAKVLREAVQNSKTTFSENL
SSKQDIRGTKTEQSTIGTTNQGQAQTNLTMKQDNVTIKGLQTNVSIPKVNLCLLQASVEE
SPTTAPSRSVTHVSLVALCFDRIATQVRMNRGVVEETSNNAEPGRTSNFDRYVHATKMQP
QSSGSLRSNAGAEKGKEIAAKLNIHRVHGQLRGLDTTDIGTCAITAIPFEKSKVLFTLEE
LDEFTFVDETDQQAVPDVTRIGPSQEKWGWIMFECGLENLTIKGGRQSGAVLYNSFGIMG
KASDTERGGVLTSNNSSDSPTGSGYNTDVSDDNLPCDRTSPSSDLNGNSVSDEQDEGVES
DDLKKDLPLMPPPPDSCSMKLTIKEIWFSFAAPTNVRSHTHAFSRQLNLLSTATPAVGAW
LVPIDQLKSSLNKLETEGTLRICAVMGCIMTEALENKSVHFPLRSKYNRLTKVARFLQEN
PSCLLCNILHHYLHQANYSIIDDATMSDGLPALVTLKKGLVALARQWMKFIVVTPAFKGV
SLHRPAQPLKPQIAMDHEHEDGLGLDNGGGLQSDTSADGAEFEFDAATVSEHTMLLEGTA
NRPPPGSSGPVTGAEIMRKLSKTHTHSDSALKIKGIHPYHSLSYTSGDTATDSPVHVGRA
GMPVKDSPRKESLLSYLTGSFPSLHNLLEGTPQRSSAAVKSSSLTRTGNTVATDMLSEHP
LLSEPSSVSFYNWMSNAVGNRGSVLQESPVTKSGHNSLPTGVAPNLPTIPSASDFNTVLS
SDQNTLDGTHSQHSTSQDDVAGVEEANQGFPAVQLADAQVVFKPLLSHTGIQSQDTMPFC
YRMYFGEHLSFSGTLDCLRADIVDSDTAKERKGKRARRQGHVNLPPLEFKPALMLGTFSI
SAVVMEKSVCTPQNSTSALSFHDLSKRYYNTFHCNFTISCQSISQHVDMALVRLIHQFST
MIDDIKATQTDIKLSRYTAGSASPTPTFKTRKHRDFRSSDFSRSSRGSLNGGNRVNNAKN
KRTNNENNKKESRNKNSLGRSERRTSKVSRKGSKDVVDHMTIHMDDSDSITVSEQSEPSA
ECWQNMYKLLNFYSLISDPTGILEKSSETFGPAGVRSPTEPTCKVVFENEQDNSSLTKTQ
RKRSLVTSEPQHVTLIVFGIGMVNRTHLEADIGGLTMESELKRIHGSFTLKEKMKDVLHQ
KMTETCATAHIGGVNIVLLEGITPNIQLEDFPTSPTSTAKQEFLTVVKCSIAKSQALYSA
QRGLKTNNAAVFKVGAISINIPQHPATLHSMMVRSSHQLSKQISDLIRQPSTAPQPVKED
IATPLPSEKTPTSVNQTPVETNEFPQLPEGLEKKPIVLKFSAMLDGIAIGAALLPSLKAE
YKMGRMRSHGMTGAQTRFTFELPNHRLRFTSKVSATDMSTIPPSASLNLPPVTMSGKYIM
EEHDSYSDQVWSIDELPSKQGYYLQGNYLRCVAEVGSFEHNLTTDLLNHLVFVQKVFMKE
VNEVIQKVSGGEQPIPLWNEHDGTADGDKPKILLYSLNLQFKGIQVTATTPSMRAVRFET
GLIELELSNRLQTKASPGSSSYLKLFGKCQVDLNLALGQIVKHQVYEEAGSDFHQVAYFK
TRIGLRNALREEISGSSDREAVLITLNRPIVYAQPVAFDRAVLFWLNYKAAYDNWNEQRM
ALHKDIHMATKEVVDMLPGIQQTSAQAFGTLFLQLTVNDLGICLPITNTAQSNHTGDLDT
GSALVLTIESTLITACSSESLVSKGHFKNFCIRFADGFETSWDDWKPEIHGDLVMNACVV
PDGTYEVCSRTTGQAAAESSSAGTWTLNVLWKMCGIDVHMDPNIGKRLNALGNTLTTLTG
EEDIDDIADLNSVNIADLSDEDEVDTMSPTIHTEATDYRRQAASASQPGELRGRKIMKRI
VDIRELNEQAKVIDDLKKLGASEGTINQEIQRYQQLESVAVNDIRRDVRKKLRRSSMRAA
SLKDKWGLSYKPSYSRSKSISASGRPPLKRMERASSRVGETEELPEIRVDAASPGPRVTF
NIQDTFPEETELDLLSVTIEGPSHYSSNSEGSCSVFSSPKTPGGFSPGIPFQTEEGRRDD
SLSSTSEDSEKDEKDEDHERERFYIYRKPSHTSRKKATGFAAVHQLFTERWPTTPVNRSL
SGTATERNIDFELDIRVEIDSGKCVLHPTTLLQEHDDISLRRSYDRSSRSLDQDSPSKKK
KFQTNYASTTHLMTGKKVPSSLQTKPSDLETTVFYIPGVDVKLHYNSKTLKTESPNASRG
SSLPRTLSKESKLYGMKDSATSPPSPPLPSTVQSKTNTLLPPQPPPIPAAKGKGSGGVKT
AKLYAWVALQSLPEEMVISPCLLDFLEKALETIPITPVERNYTAVSSQDEDMGHFEIPDP
MEESTTSLVSSSTSAYSSFPVDVVVYVRVQPSQIKFSCLPVSRVECMLKLPSLDLVFSSN
RGELETLGTTYPAETLSPGGNATQSGTKTSASKTGIPGSSGLGSPLGRSRHSSSQSDLTS
SSSSSSGLSFTACMSDFSLYVFHPYGAGKQKTAVSGLTPGSGGLGNVDEEPTSVTGRKDS
LSINLEFVKVSLSRIRRSGGASFFESQSVSKSASKMDTTLINISAVCDIGSASFKYDMRR
LSEILAFPRAWYRRSIARRLFLGDQTINLPTSGPGTPDSIEGVSQHLSPESSRKAYCKTW
EQPSQSASFTHMPQSPNVFNEHMTNSTMSPGTVGQSLKSPASIRSRSVSDSSVPRRDSLS
KTSTPFNKSNKAASQQGTPWETLVVFAINLKQLNVQMNMSNVMGNTTWTTSGLKSQGRLS
VGSNRDREISMSVGLGRSQLDSKGGVVGGTIDVNALEMVAHISEHPNQQPSHKIQITMGS
TEARVDYMGSSILMGIFSNADLKLQDEWKVNLYNTLDSSITDKSEIFVHGDLKWDIFQVM
ISRSTTPDLIKIGMKLQEFFTQQFDTSKRALSTWGPVPYLPPKTMTSNLEKSSQEQLLDA
AHHRHWPGVLKVVSGCHISLFQIPLPEDGMQFGGSMSLHGNHMTLACFHGPNFRSKSWAL
FHLEEPNIAFWTEAQKIWEDGSSDHSTYIVQTLDFHLGHNTMVTKPCGALESPMATITKI
TRRRHENPPHGVASVKEWFNYVTATRNEELNLLRNVDANNTENSTTVKNSSLLSGFRGGS
SYNHETETIFALPRMQLDFKSIHVQEPQEPSLQDASLKPKVECSVVTEFTDHICVTMDAE
LIMFLHDLVSAYLKEKEKAIFPPRILSTRPGQKSPIIIHDDNSSDKDREDSITYTTVDWR
DFMCNTWHLEPTLRLISWTGRKIDPVGVDYILQKLGFHHARTTIPKWLQRGVMDPLDKVL
SVLIKKLGTALQDEKEKKGKDKEEH

Sequence length

5005

Interactions

View interactions

192

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alkuraya-Kucinskas syndrome	Pathogenic; Likely pathogenic	rs1245182875, rs1787740370, rs2150047294, rs2149413101, rs2148690880, rs527467559, rs1460702087, rs730882245, rs1200235313, rs1782343581, rs2478086569, rs2480758383, rs2483504427, rs1771788877, rs2478075183 View all (9 more)	RCV001332056 RCV001844364 RCV001844365 RCV001783507 RCV001783508 RCV001782338 RCV002281888 RCV000576897 RCV003146817 RCV003146819 RCV003146822 RCV003233059 RCV003777336 RCV003330465 RCV003389589 RCV003594708 RCV003988584 RCV000576894 RCV000576896 RCV000576899 RCV000576895 RCV000991428 RCV001251434 RCV001196392
Arthrogryposis multiplex congenita	Likely pathogenic	rs1460624416, rs777407076, rs1741122462, rs775292946	RCV000855516 RCV000855517 RCV001257402 RCV001257375
BLTP1-related disorder	Likely pathogenic	rs1280760946, rs779799402, rs1186567070	RCV003402515 RCV003397465 RCV003934323
Clubfoot	Likely pathogenic	rs1741122462, rs775292946	RCV001257402 RCV001257375
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1460624416, rs777407076	RCV000855516 RCV000855517
Hemivertebrae	Pathogenic	rs1773935759	RCV001257376
Renal agenesis	Pathogenic	rs1773935759	RCV001257376
Right aortic arch	Pathogenic	rs1773935759	RCV001257376
Severe hydrocephalus	Likely pathogenic	rs1741122462, rs775292946	RCV001257402 RCV001257375

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs75034409, rs747492980, rs10034361	RCV005918494 RCV005924598 RCV005925130
Cervical cancer	Benign	rs10034361	RCV005925131
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs75034409	RCV005918499
Colon adenocarcinoma	Uncertain significance	rs200446634	RCV005936739
Familial pancreatic carcinoma	Benign	rs75034409	RCV005918497
Gastric cancer	Benign	rs747492980, rs45520839, rs10034361	RCV005924599 RCV005923598 RCV005925132
Lung cancer	Benign	rs10034361	RCV005925134
Lymphoma	Benign	rs75034409	RCV005918498
Malignant lymphoma, large B-cell, diffuse	Benign	rs45520839	RCV005923597
Malignant tumor of esophagus	Benign	rs75034409	RCV005918495
Nonpapillary renal cell carcinoma	Benign	rs75034409	RCV005918496
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs747492980, rs10034361, rs200446634	RCV005924600 RCV005925133 RCV005936740
Uterine carcinosarcoma	Benign	rs45520839	RCV005923599
Uterine corpus endometrial carcinoma	Benign	rs10034361	RCV005925135
Uveal melanoma	Uncertain significance	rs765951223	RCV005939079

BLTP1 (bridge-like lipid transfer protein family member 1)