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Aliases for BICD1 Gene

Aliases for BICD1 Gene

  • BICD Cargo Adaptor 1 2 3 5
  • Bic-D 1 3 4
  • Cytoskeleton-Like Bicaudal D Protein Homolog 1 3
  • Bicaudal D (Drosophila) Homolog 1 2
  • Bicaudal D Homolog 1 (Drosophila) 2
  • Protein Bicaudal D Homolog 1 3
  • Bicaudal D Homolog 1 3
  • BICD 3

External Ids for BICD1 Gene

Previous GeneCards Identifiers for BICD1 Gene

  • GC12P032706
  • GC12P032286
  • GC12P032160
  • GC12P032151
  • GC12P032011
  • GC12P032259

Summaries for BICD1 Gene

Entrez Gene Summary for BICD1 Gene

  • This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]

GeneCards Summary for BICD1 Gene

BICD1 (BICD Cargo Adaptor 1) is a Protein Coding gene. Diseases associated with BICD1 include Lissencephaly 1. Among its related pathways are Vesicle-mediated transport and COPI-independent Golgi-to-ER retrograde traffic. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and structural constituent of cytoskeleton. An important paralog of this gene is BICD2.

UniProtKB/Swiss-Prot for BICD1 Gene

  • Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex.

Gene Wiki entry for BICD1 Gene

Additional gene information for BICD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BICD1 Gene

Genomics for BICD1 Gene

GeneHancer (GH) Regulatory Elements for BICD1 Gene

Promoters and enhancers for BICD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J032104 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 670.1 +0.1 110 5 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS KLF13 SP3 BICD1 ENSG00000257530 LOC100420981 YARS2 SINHCAF ENSG00000277342
GH12J032677 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 14.8 +572.9 572900 3.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 DNM1L BICD1 LOC100420981 YARS2 H3F3C ENSG00000257643
GH12J032270 Enhancer 1.2 FANTOM5 Ensembl ENCODE 23.8 +165.9 165922 3.9 PKNOX1 SMAD1 ZNF335 POLR2B ZSCAN5C RUNX3 SMAD5 ELF1 ZNF592 NR2F2 BICD1 LOC100420186 ENSG00000274964
GH12J032252 Enhancer 1 FANTOM5 ENCODE 23.9 +146.1 146056 0.8 HDGF SRF PKNOX1 JUNB EBF1 DPF2 RELA SP1 BCL11A POLR2A BICD1 LOC100420186 ENSG00000274964
GH12J031726 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 -378.3 -378259 3.9 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 AMN1 GC12P031730 ENSG00000276900 DDX11 LOC100420981 SINHCAF FLJ13224 KIAA1551 DDX11-AS1 CAPRIN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BICD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BICD1 gene promoter:
  • POU2F1c
  • POU2F1b
  • POU2F1a
  • POU2F1
  • AML1a
  • LCR-F1
  • Pax-4a
  • MEF-2A
  • aMEF-2
  • ATF

Genomic Locations for BICD1 Gene

Genomic Locations for BICD1 Gene
chr12:32,106,736-32,383,650
(GRCh38/hg38)
Size:
276,915 bases
Orientation:
Plus strand
chr12:32,259,769-32,536,567
(GRCh37/hg19)
Size:
276,799 bases
Orientation:
Plus strand

Genomic View for BICD1 Gene

Genes around BICD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BICD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BICD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BICD1 Gene

Proteins for BICD1 Gene

  • Protein details for BICD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96G01-BICD1_HUMAN
    Recommended name:
    Protein bicaudal D homolog 1
    Protein Accession:
    Q96G01
    Secondary Accessions:
    • A8K2C3
    • F8W113
    • O43892
    • O43893

    Protein attributes for BICD1 Gene

    Size:
    975 amino acids
    Molecular mass:
    110750 Da
    Quaternary structure:
    • Interacts with RAB6A. Interacts (via C-terminus) with RAB6B (GTP-bound); the interaction is direct. Interacts with CLIP-115 and KIFC2 (By similarity). Interacts with human cytomegalovirus/HHV-5 protein UL32.

    Alternative splice isoforms for BICD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BICD1 Gene

Post-translational modifications for BICD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BICD1 Gene

Domains & Families for BICD1 Gene

Gene Families for BICD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BICD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BICD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96G01

UniProtKB/Swiss-Prot:

BICD1_HUMAN :
  • Belongs to the BicD family.
Family:
  • Belongs to the BicD family.
genes like me logo Genes that share domains with BICD1: view

Function for BICD1 Gene

Molecular function for BICD1 Gene

UniProtKB/Swiss-Prot Function:
Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex.
GENATLAS Biochemistry:
Drosophila Bicaudal-D gene homolog,component of cytoskeleton,with four alternatively spliced isoforms,expressed in brain,heart,skeletal muscle

Phenotypes From GWAS Catalog for BICD1 Gene

Gene Ontology (GO) - Molecular Function for BICD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9367685
GO:0005515 protein binding IPI 17139249
GO:0008093 cytoskeletal adaptor activity IDA,IEA 12447383
GO:0017137 Rab GTPase binding IPI 12447383
GO:0019901 protein kinase binding IPI 17139249
genes like me logo Genes that share ontologies with BICD1: view
genes like me logo Genes that share phenotypes with BICD1: view

Animal Models for BICD1 Gene

MGI Knock Outs for BICD1:
  • Bicd1 Bicd1<tm1.1(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for BICD1 Gene

miRTarBase miRNAs that target BICD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BICD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BICD1 Gene

Localization for BICD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BICD1 Gene

Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BICD1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BICD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 colocalizes_with Golgi apparatus IDA,IEA 17139249
GO:0005802 trans-Golgi network IDA 12447383
GO:0005813 centrosome IMP 17139249
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton NAS 9367685
genes like me logo Genes that share ontologies with BICD1: view

Pathways & Interactions for BICD1 Gene

genes like me logo Genes that share pathways with BICD1: view

Gene Ontology (GO) - Biological Process for BICD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing TAS 9367685
GO:0008298 intracellular mRNA localization NAS 9367685
GO:0009653 anatomical structure morphogenesis TAS 9367685
GO:0016032 viral process IMP 20089649
GO:0033365 protein localization to organelle IDA 12447383
genes like me logo Genes that share ontologies with BICD1: view

No data available for SIGNOR curated interactions for BICD1 Gene

Drugs & Compounds for BICD1 Gene

No Compound Related Data Available

Transcripts for BICD1 Gene

Unigene Clusters for BICD1 Gene

Bicaudal D homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BICD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BICD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2: - - - - -
SP3:
SP4: - -
SP5:

Relevant External Links for BICD1 Gene

GeneLoc Exon Structure for
BICD1
ECgene alternative splicing isoforms for
BICD1

Expression for BICD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BICD1 Gene

mRNA differential expression in normal tissues according to GTEx for BICD1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.4) and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for BICD1 Gene

This gene is overexpressed in Plasma (44.4) and Colon muscle (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BICD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BICD1 Gene:

BICD1

SOURCE GeneReport for Unigene cluster for BICD1 Gene:

Hs.505202

mRNA Expression by UniProt/SwissProt for BICD1 Gene:

Q96G01-BICD1_HUMAN
Tissue specificity: Expressed in the brain, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for BICD1 Gene

  • Nervous system(4.7)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with BICD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BICD1 Gene

Orthologs for BICD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BICD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BICD1 34 33
  • 99.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BICD1 34 33
  • 94.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BICD1 34 33
  • 93.88 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BICD1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bicd1 16 34 33
  • 89.61 (n)
rat
(Rattus norvegicus)
Mammalia Bicd1 33
  • 88.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BICD1 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves BICD1 34 33
  • 81.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BICD1 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bicd1 33
  • 75.74 (n)
zebrafish
(Danio rerio)
Actinopterygii bicd1a 34 33
  • 67.59 (n)
OneToMany
BICD1 (1 of 2) 34
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BicD 34 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C43G2.2 35
  • 31 (a)
bicd-1 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToMany
Species where no ortholog for BICD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BICD1 Gene

ENSEMBL:
Gene Tree for BICD1 (if available)
TreeFam:
Gene Tree for BICD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BICD1: view image

Paralogs for BICD1 Gene

Paralogs for BICD1 Gene

(1) SIMAP similar genes for BICD1 Gene using alignment to 5 proteins:

  • BICD1_HUMAN
  • A8MVZ6_HUMAN
  • F8VZX7_HUMAN
  • F8W056_HUMAN
  • U3KQF7_HUMAN

Pseudogenes.org Pseudogenes for BICD1 Gene

genes like me logo Genes that share paralogs with BICD1: view

Variants for BICD1 Gene

Sequence variations from dbSNP and Humsavar for BICD1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs34447944 benign, not specified 32,328,435(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs3748275 benign, not specified 32,328,159(+) G/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1000001653 -- 32,140,932(+) T/A intron_variant
rs1000006208 -- 32,186,481(+) A/C intron_variant
rs1000007423 -- 32,377,440(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BICD1 Gene

Variant ID Type Subtype PubMed ID
dgv181e201 CNV deletion 23290073
dgv182e201 CNV deletion 23290073
dgv183e201 CNV deletion 23290073
dgv184e201 CNV deletion 23290073
dgv185e201 CNV deletion 23290073
dgv2489n54 CNV loss 21841781
dgv2490n54 CNV loss 21841781
dgv2491n54 CNV loss 21841781
esv1526675 CNV insertion 17803354
esv1653085 CNV insertion 17803354
esv1789119 CNV insertion 17803354
esv2664453 CNV deletion 23128226
esv2665909 CNV deletion 23128226
esv2666131 CNV deletion 23128226
esv2672908 CNV deletion 23128226
esv2677398 CNV deletion 23128226
esv2741090 CNV deletion 23290073
esv2745732 CNV deletion 23290073
esv2745733 CNV deletion 23290073
esv2745742 CNV deletion 23290073
esv2745743 CNV deletion 23290073
esv2745745 CNV deletion 23290073
esv2745747 CNV deletion 23290073
esv2745748 CNV deletion 23290073
esv2745749 CNV deletion 23290073
esv2745750 CNV deletion 23290073
esv2751096 CNV gain 17911159
esv2760249 CNV loss 21179565
esv28364 CNV loss 19812545
esv3302556 CNV tandem duplication 20981092
esv3306969 CNV mobile element insertion 20981092
esv3342381 CNV insertion 20981092
esv3344422 CNV insertion 20981092
esv3368723 CNV insertion 20981092
esv3418178 CNV duplication 20981092
esv3549021 CNV deletion 23714750
esv3549024 CNV deletion 23714750
esv3581438 CNV gain 25503493
esv3629065 CNV loss 21293372
esv3629066 CNV loss 21293372
esv3629067 CNV loss 21293372
esv3629068 CNV loss 21293372
esv3629070 CNV loss 21293372
esv3629071 CNV loss 21293372
esv3629072 CNV loss 21293372
esv3629073 CNV loss 21293372
esv3892175 CNV loss 25118596
nsv1041733 CNV gain 25217958
nsv1127258 CNV deletion 24896259
nsv1138122 CNV deletion 24896259
nsv1145594 CNV deletion 24896259
nsv1160011 CNV deletion 26073780
nsv1160012 CNV deletion 26073780
nsv437142 CNV loss 16327808
nsv438201 CNV loss 16468122
nsv476615 CNV novel sequence insertion 20440878
nsv511506 CNV loss 21212237
nsv512263 CNV loss 21212237
nsv518108 CNV gain 19592680
nsv526311 CNV loss 19592680
nsv528838 CNV loss 19592680
nsv53118 CNV insertion 16902084
nsv558171 CNV gain 21841781
nsv558179 CNV loss 21841781
nsv665 CNV insertion 18451855
nsv832366 CNV gain 17160897
nsv8942 CNV loss 18304495

Variation tolerance for BICD1 Gene

Residual Variation Intolerance Score: 4.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BICD1 Gene

Human Gene Mutation Database (HGMD)
BICD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BICD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BICD1 Gene

Disorders for BICD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BICD1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 1
  • lis1
- elite association - COSMIC cancer census association via MalaCards
Search BICD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BICD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BICD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BICD1 Gene

Publications for BICD1 Gene

  1. A human homologue (BICD1) of the Drosophila bicaudal-D gene. (PMID: 9367685) Baens M … Marynen P (Genomics 1997) 2 3 4 22 58
  2. Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. (PMID: 20709820) Kong X … ECLIPSE Study NETT Investigators (American journal of respiratory and critical care medicine 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Genome-wide association study of pancreatic cancer in Japanese population. (PMID: 20686608) Low SK … Sakamoto H (PloS one 2010) 3 44 58
  5. Bicaudal D1-dependent trafficking of human cytomegalovirus tegument protein pp150 in virus-infected cells. (PMID: 20089649) Indran SV … Britt WJ (Journal of virology 2010) 3 4 58

Products for BICD1 Gene

Sources for BICD1 Gene

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