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BICD1 BICD cargo adaptor 1 [ Homo sapiens (human) ]

Gene ID: 636, updated on 7-Jun-2020

Summary

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Official Symbol
BICD1provided by HGNC
Official Full Name
BICD cargo adaptor 1provided by HGNC
Primary source
HGNC:HGNC:1049
See related
Ensembl:ENSG00000151746 MIM:602204
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BICD; bic-D 1
Summary
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]
Expression
Broad expression in ovary (RPKM 4.3), brain (RPKM 3.8) and 20 other tissues See more
Orthologs
mouse all

Genomic context

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See BICD1 in Genome Data Viewer
Location:
12p11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (32106773..32383637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32259713..32536567)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724618 Neighboring gene uncharacterized LOC107984473 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene nucleosome assembly protein 1 like 1 pseudogene Neighboring gene dynamin 1 like Neighboring gene tyrosyl-tRNA synthetase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A regulatory SNP of the BICD1 gene contributes to telomere length variation in humans. Mangino M, et al. Hum Mol Genet, 2008 Aug 15. PMID 18487243
  2. The Rab6 effector Bicaudal D1 associates with Chlamydia trachomatis inclusions in a biovar-specific manner. Moorhead AR, et al. Infect Immun, 2007 Feb. PMID 17101644, Free PMC Article
  3. Joint Assessment of Donor and Recipient hTERT Gene Polymorphism Provides Additional Information for Early Kidney Transplantation Outcomes. Kłoda K, et al. Med Sci Monit, 2017 Apr 14. PMID 28410362, Free PMC Article
  4. Neuronal Roles of the Bicaudal D Family of Motor Adaptors. Budzinska M, et al. Vitam Horm, 2017. PMID 28215293
  5. BICD1 and Chromosome 18 Polymorphisms Associated With Recipients' Telomere Length Affect Kidney Allograft Function After Transplantation. Kłoda K, et al. Transplant Proc, 2016 Jun. PMID 27496426

See all (49) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The disrupting Bicd1/Fignl1 interaction induced motor axon pathfinding defects characteristic of Fignl1 gain or loss of function, respectively.
    Title: FIGNL1 associates with KIF1Bβ and BICD1 to restrict dynein transport velocity during axon navigation.
  2. BICD1 genes may contribute to the decrease in forced vital capacity levels by interacting with PM10 exposure
    Title: A genome-wide by PM<sub>10</sub> interaction study identifies novel loci for lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults.
  3. Data suggest that BICD1 and BICD2 are highly expressed in the nervous system during development and are important in neuronal homeostasis. [REVIEW]
    Title: Neuronal Roles of the Bicaudal D Family of Motor Adaptors.
  4. This study showed that rs2735940 hTERT CX-TT donor-recipient genotype pair was associated with almost five times higher odds (OR=4.82; 95% CI: 1.32-18; p=0.016) of delayed graft function (DGF), and that rs2735940 hTERT, rs2630578 BICD1, and rs7235755 chromosome 18 polymorphisms combined pairs were not associated with acute rejection (AR).
    Title: Joint Assessment of Donor and Recipient hTERT Gene Polymorphism Provides Additional Information for Early Kidney Transplantation Outcomes.
  5. Kidney transplant recipients' polymorphisms of genes associated with telomere length, BICD1 and chromosome 18, but not hTERT, affect kidney allograft early and long-term function after transplantation.
    Title: BICD1 and Chromosome 18 Polymorphisms Associated With Recipients' Telomere Length Affect Kidney Allograft Function After Transplantation.
  6. Graft BICD1 polymorphisms apart from the association with telomere length, affect early kidney function after transplantation
    Title: hTERT, BICD1 and chromosome 18 polymorphisms associated with telomere length affect kidney allograft function after transplantation.
  7. Variants in BICD1 are associated with length of telomeres, which suggests that a mechanism linked to accelerated aging may be involved in the pathogenesis of emphysema.
    Title: Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
  8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. the protease-activated receptor-1 interactor, Bicaudal D1, regulates G protein signaling and internalization
    Title: A novel protease-activated receptor-1 interactor, Bicaudal D1, regulates G protein signaling and internalization.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
NHGRI GWA Catalog
Genome-wide association study of pancreatic cancer in Japanese population.
NHGRI GWA Catalog
Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
cytoskeletal adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytoskeletal adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
dynactin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
dynactin binding IDA
Inferred from Direct Assay
more info
 PubMed 
dynactin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
dynein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
dynein complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
dynein intermediate chain binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
proteinase activated receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
RNA processing TAS
Traceable Author Statement
more info
 PubMed 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
 PubMed 
intracellular mRNA localization NAS
Non-traceable Author Statement
more info
 PubMed 
microtubule anchoring at microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
microtubule anchoring at microtubule organizing center ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
minus-end-directed organelle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of phospholipase C activity ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of protein localization to centrosome IGI
Inferred from Genetic Interaction
more info
 PubMed 
positive regulation of receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein localization to organelle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein localization to organelle IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
regulation of microtubule cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
regulation of proteinase activated receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
stress granule assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
viral process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
centrosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
colocalizes_with cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
cytosol TAS
Traceable Author Statement
more info
  
host cell viral assembly compartment IDA
Inferred from Direct Assay
more info
 PubMed 
membrane IDA
Inferred from Direct Assay
more info
 PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
 PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with tubulin complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
protein bicaudal D homolog 1
Names
bicaudal D homolog 1
cytoskeleton-like bicaudal D protein homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001003398.3 → NP_001003398.1  protein bicaudal D homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_001003398.1

    Status: REVIEWED

    Source sequence(s)
    AC026356, AC048344, AC087245, AK313430
    Consensus CDS
    CCDS44859.1
    UniProtKB/Swiss-Prot
    Q96G01
    Related
    ENSP00000446793.1, ENST00000548411.5
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  2. NM_001354186.2 → NP_001341115.1  protein bicaudal D homolog 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344, AC087245
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  3. NM_001354187.2 → NP_001341116.1  protein bicaudal D homolog 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344, AC087245
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  4. NM_001354188.2 → NP_001341117.1  protein bicaudal D homolog 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344, AC087245
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  5. NM_001354189.2 → NP_001341118.1  protein bicaudal D homolog 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 700
    BicD; Microtubule-associated protein Bicaudal-D

  6. NM_001363603.1 → NP_001350532.1  protein bicaudal D homolog 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344
    Consensus CDS
    CCDS86290.1
    Related
    ENSP00000379107.3, ENST00000395758.3
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  7. NM_001714.4 → NP_001705.2  protein bicaudal D homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001705.2

    Status: REVIEWED

    Source sequence(s)
    AC048344, AC087245, AK290188
    Consensus CDS
    CCDS8726.1
    UniProtKB/Swiss-Prot
    Q96G01
    Related
    ENSP00000498700.1, ENST00000652176.1
    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

RNA

  1. NR_148725.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC048344, AC087245, BC136372

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    32106773..32383637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520814.3 → XP_011519116.1  protein bicaudal D homolog 1 isoform X3

    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  2. XM_011520812.3 → XP_011519114.1  protein bicaudal D homolog 1 isoform X1

    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  3. XM_011520813.2 → XP_011519115.1  protein bicaudal D homolog 1 isoform X2

    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

  4. XM_011520815.3 → XP_011519117.1  protein bicaudal D homolog 1 isoform X4

    Conserved Domains (1) summary
    pfam09730
    Location:74 → 799
    BicD; Microtubule-associated protein Bicaudal-D

RNA

  1. XR_002957369.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96G01.3 GenPept UniProtKB/Swiss-Prot:Q96G01

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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