• Gene id: 636

Gene Summary

• Gene Symbol: BICD1   Gene   UCSC   Ensembl
• Aliases: BICD, bic-D 1
• Gene name: BICD cargo adaptor 1
• Alternate names: protein bicaudal D homolog 1, bicaudal D homolog 1, cytoskeleton-like bicaudal D protein homolog 1,
• Gene location: 12p11.21 (32106772: 32383636)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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.
• OMIM: 602204

SNPs

rs398123027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35943953G>A
NC_000006.11   g.35911730G>A
NG_033897.1   g.85684C>T
NM_052961.4   c.2860C>T
NM_052961.3   c.2860C>T
NM_001193476.2   c.2860C>T
NM_001193476.1   c.2860C>T
NM_138718.2   c.2545C>T
XM_011514294.3   c.2782C>T
XM_017010235.1   c.2860C>T
NP_4431  

rs397515622

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55491203C>A
NC_000015.9   g.55783401C>A
NG_021213.1   g.22032G>T
NM_130810.4   c.325G>T
NM_130810.3   c.325G>T
NM_001033559.2   c.325G>T
NM_001033560.1   c.325G>T
NR_037923.1   n.580G>T
NP_570722.2   p.Glu109Ter
NP_001028731.1   p.Glu109Ter
NP_001028732  

rs142724470

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35951201C>T
NC_000006.11   g.35918978C>T
NG_033897.1   g.78436G>A
NM_052961.4   c.2434G>A
NM_052961.3   c.2434G>A
NM_001193476.2   c.2434G>A
NM_001193476.1   c.2434G>A
NM_138718.2   c.2119G>A
XM_011514294.3   c.2356G>A
XM_017010235.1   c.2434G>A
NP_4431  

rs140210148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.36012301C>T
NC_000006.11   g.35980078C>T
NG_033897.1   g.17336G>A
NM_052961.4   c.260G>A
NM_052961.3   c.260G>A
NM_001193476.2   c.260G>A
NM_001193476.1   c.260G>A
NM_138718.2   c.260G>A
XM_011514294.3   c.260G>A
XR_926055.3   n.370G>A
XM_017010235.1   c.

Protein Summary

• Protein general information: Q96G01  
  • Name: Protein bicaudal D homolog 1 (Bic D 1)
  • Length: 975  
  • Mass: 110750
  • Tissue specificity: Expressed in the brain, heart and skeletal muscle.
• Sequence:

  MAAEEVLQTVDHYKTEIERLTKELTETTHEKIQAAEYGLVVLEEKLTLKQQYDELEAEYDSLKQELEQLKEAFGQ
  SFSIHRKVAEDGETREETLLQESASKEAYYLGKILEMQNELKQSRAVVTNVQAENERLTAVVQDLKENNEMVELQ
  RIRMKDEIREYKFREARLLQDYTELEEENITLQKLVSTLKQNQVEYEGLKHEIKRFEEETVLLNSQLEDAIRLKE
  IAEHQLEEALETLKNEREQKNNLRKELSQYISLNDNHISISVDGLKFAEDGSEPNNDDKMNGHIHGPLVKLNGDY
  RTPTLRKGESLNPVSDLFSELNISEIQKLKQQLMQVEREKAILLANLQESQTQLEHTKGALTEQHERVHRLTEHV
  NAMRGLQSSKELKAELDGEKGRDSGEEAHDYEVDINGLEILECKYRVAVTEVIDLKAEIKALKEKYNKSVENYTD
  EKAKYESKIQMYDEQVTSLEKTTKESGEKMAHMEKELQKMTSIANENHSTLNTAQDELVTFSEELAQLYHHVCLC
  NNETPNRVMLDYYRQSRVTRSGSLKGPDDPRGLLSPRLARRGVSSPVETRTSSEPVAKESTEASKEPSPTKTPTI
  SPVITAPPSSPVLDTSDIRKEPMNIYNLNAIIRDQIKHLQKAVDRSLQLSRQRAAARELAPMIDKDKEALMEEIL
  KLKSLLSTKREQIATLRAVLKANKQTAEVALANLKNKYENEKAMVTETMTKLRNELKALKEDAATFSSLRAMFAT
  RCDEYVTQLDEMQRQLAAAEDEKKTLNTLLRMAIQQKLALTQRLEDLEFDHEQSRRSKGKLGKSKIGSPKVSGEA
  SVTVPTIDTYLLHSQGPQTPNIRVSSGTQRKRQFSPSLCDQSRPRTSGASYLQNLLRVPPDPTSTESFLLKGPPS
  MSEFIQGHRLSKEKRLTVAPPDCQQPAASVPPQCSQLAGRQDCPTVSPDTALPEEQPHSSSQCAPLHCLSKPPHP

• Structural information:
  • Interpro: IPR018477  
  • STRING: ENSP00000281474
• Other Databases: GeneCards:  BICD1  Malacards:  BICD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0045505	dynein intermediate chain binding	IDA	molecular function
GO:0034452	dynactin binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:1904781	positive regulation of protein localization to centrosome	IGI	biological process
GO:0005813	centrosome	IMP	cellular component
GO:0048471	perinuclear region of cytoplasm	IMP	cellular component
GO:0070507	regulation of microtubule cytoskeleton organization	IGI	biological process
GO:0072393	microtubule anchoring at microtubule organizing center	IBA	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IBA	biological process
GO:0045505	dynein intermediate chain binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0070840	dynein complex binding	IBA	molecular function
GO:0070507	regulation of microtubule cytoskeleton organization	IBA	biological process
GO:0034452	dynactin binding	IBA	molecular function
GO:0033365	protein localization to organelle	IBA	biological process
GO:0008093	cytoskeletal anchor activity	IBA	molecular function
GO:0008093	cytoskeletal anchor activity	IEA	molecular function
GO:0070840	dynein complex binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0006396	RNA processing	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900737	negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:1900737	negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:1900276	regulation of proteinase activated receptor activity	IEA	biological process
GO:0031871	proteinase activated receptor binding	IEA	molecular function
GO:1900275	negative regulation of phospholipase C activity	IEA	biological process
GO:0072393	microtubule anchoring at microtubule organizing center	IEA	biological process
GO:0034063	stress granule assembly	IEA	biological process
GO:0031871	proteinase activated receptor binding	IEA	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0031871	proteinase activated receptor binding	ISS	molecular function
GO:0008093	cytoskeletal anchor activity	IDA	molecular function
GO:0034452	dynactin binding	IDA	molecular function
GO:0070840	dynein complex binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0072517	host cell viral assembly compartment	IDA	cellular component
GO:0005881	cytoplasmic microtubule	IDA	colocalizes with
GO:0016020	membrane	IDA	cellular component
GO:0033365	protein localization to organelle	IDA	biological process
GO:0033365	protein localization to organelle	IDA	biological process
GO:0034063	stress granule assembly	ISS	biological process
GO:0048260	positive regulation of receptor-mediated endocytosis	IMP	biological process
GO:0072385	minus-end-directed organelle transport along microtubule	IMP	biological process
GO:0072393	microtubule anchoring at microtubule organizing center	ISS	biological process
GO:1900275	negative regulation of phospholipase C activity	ISS	biological process
GO:0016032	viral process	IMP	biological process
GO:0045298	tubulin complex	TAS	colocalizes with
GO:1900276	regulation of proteinase activated receptor activity	ISS	biological process
GO:1900737	negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	ISS	biological process
GO:1900737	negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	ISS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0008298	intracellular mRNA localization	NAS	biological process
GO:0005856	cytoskeleton	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq