Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
54887 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Bridge-like lipid transfer protein family member 3A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
BLTP3A |
SynonymsGene synonyms aliases
|
C6orf107, ICBP90, SHIP164B, UHRF1BP1, dJ349A12.1 |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p21.31 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
TP53 |
Activation |
18220474 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q6BDS2 |
Protein name |
Bridge-like lipid transfer protein family member 3A (ICBP90-binding protein 1) (UHRF1-binding protein 1) (Ubiquitin-like containing PHD and RING finger domains 1-binding protein 1) |
Protein function |
Tube-forming lipid transport protein which probably mediates the transfer of lipids between membranes at organelle contact sites (PubMed:35499567). May be involved in the retrograde traffic of vesicle clusters in the endocytic pathway to the Gol |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF12624 |
Chorein_N |
1 → 104 |
N-terminal region of Chorein or VPS13 |
Family |
|
Sequence |
MAGIIKKQILKHLSRFTKNLSPDKINLSTLKGEGQLTNLELDEEVLQNVLELPTWLAITR VYCNRASIRIQWTKLKTHPICLCLDKVEVEMKTCEDPRPPNGQSPIALASGQSEYGFAEK VVEGMFIIVNSITIKIHSKAFHASFELWQLQGYSVNPNWQQSDLRLTRITDPCRGEVLTF KEITWQTLRIEADATDNGDQDPVTTPLRLITNQGRIQIALKRRTKDCNVISSKLMFLLDD LLWVLTDSQLKAMMKYAESLSEAMEKSAHQRKSLAPEPVQITPPAPSAQQSWAQAFGGSQ GNSNSSSSRLSQYFEKFDVKESSYHLLISRLDLHICDDSQSREPGVSANRLMGGAMQLTF RKMAFDYYPFHWAGDSCKHWVRHCEAMETRGQWAQKLVMEFQSKMEKWHEETGLKPPWHL GVDSLFRRKADSLSSPRKNPLERSPSQGRQPAFQPPAWNRLRSSCMVVRVDDLDIHQVST AGQPSKKPSTLLSCSRKLHNLPTQVSAIHIEFTEYYFPDNQELPVPCPNLYIQLNGLTFT MDPVSLLWGNLFCLDLYRSLEQFKAIYKLEDSSQKDEHLDIRLDAFWLKVSFPLEKRERA ELHRPQALVFSASGMIATNTRHAPHCSCSDLQSLFRGFAAAEFFHSNYDHFPKVPGGFSL LHMLFLHHAFQMDSCLPQPNTLPPQRPKASWDLWSVHFTQISLDFEGTENFKGHTLNFVA PFPLSIWACLPLRWQQAQARKLLLASEGRLKPSASFGSPVQSEALAPDSMSHPRSKTEHD LKSLSGLTEVMEILKEGSSGMDNKGPLTELEDVADVHMLVHSPAHVRVRLDHYQYLALLR LKEVLQRLQEQLTKDTESMTGSPLQNQTACIGVLFPSAEVALLMHPAPGAVDADSAGSDS TSLVDSELSPSEDRELKSDASSDQGPASPEKVLEESSIENQDVSQERPHSNGELQDSGPL AQQLAGKGHEAVESLQAKKLSRTQASSSPAALKPPAGRETAVNGQGELIPLKNIEGELSS AIHMTKDATKEALHATMDLTKEAVSLTKDAFSLGRDRMTSTMHKMLSLPPAKEPMAKTDE GVAAPVSGGAARLRFFSMKRTVSQQSFDGVSLDSSGPEDRISVDSDGSDSFVMLLESESG PESVPPGSLSNVSDNAGVQGSPLVNNYGQGSPAANSSVSPSGEDLIFHPVSVLVLKVNEV SFGIEVRGEDLTVALQAEELTLQQLGTVGLWQFLHGQCPGTCFQESSTLKTGHIRPAVGL RFEVGPGAAVHSPLASQNGFLHLLLHGCDLELLTSVLSGLGPFLEDEEIPVVVPMQIELL NSSITLKDDIPPIYPTSPGPIPITLAMEHVVLKRSDDGVFHIGAAAQDKPSAEVLKSEKR QPPKEQVFLVPTGEVFEQQVKELPILQKELIETKQALANANQDKEKLLQEIRKYNPFFEL
|
|
Sequence length |
1440 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Prostate cancer |
Prostate carcinoma, Prostate cancer, familial |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29892016 |
Prostate cancer, hereditary |
PROSTATE CANCER, HEREDITARY, 1 |
rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466 |
29892016 |
|
|