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

Gene ID: 636, updated on 4-Jul-2021

Summary

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
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Genomic context

See BICD1 in Genome Data Viewer
Location:
12p11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (32106773..32383637)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32259781..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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
GeneReviews: Not available
Genome-wide association study of pancreatic cancer in Japanese population.
GeneReviews: Not available
Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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_001003398.3NP_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:74799
    BicD; Microtubule-associated protein Bicaudal-D
  2. NM_001354186.2NP_001341115.1  protein bicaudal D homolog 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344, AC087245
    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D
  3. NM_001354187.2NP_001341116.1  protein bicaudal D homolog 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344, AC087245
    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D
  4. NM_001354188.2NP_001341117.1  protein bicaudal D homolog 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344, AC087245
    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D
  5. NM_001354189.2NP_001341118.1  protein bicaudal D homolog 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC016954, AC026356, AC048344
    Conserved Domains (1) summary
    pfam09730
    Location:74700
    BicD; Microtubule-associated protein Bicaudal-D
  6. NM_001363603.2NP_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:74799
    BicD; Microtubule-associated protein Bicaudal-D
  7. NM_001714.4NP_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:74799
    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 109.20210514

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_011520814.3XP_011519116.1  protein bicaudal D homolog 1 isoform X3

    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D
  2. XM_011520812.3XP_011519114.1  protein bicaudal D homolog 1 isoform X1

    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D
  3. XM_011520813.2XP_011519115.1  protein bicaudal D homolog 1 isoform X2

    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D
  4. XM_011520815.3XP_011519117.1  protein bicaudal D homolog 1 isoform X4

    Conserved Domains (1) summary
    pfam09730
    Location:74799
    BicD; Microtubule-associated protein Bicaudal-D

RNA

  1. XR_002957369.1 RNA Sequence

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