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

    Gene ID: 636, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:1049
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BICD1 in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (32106847..32383633)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (31983002..32259851)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (32259781..32536567)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4332 Neighboring gene uncharacterized LOC105369725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32115989-32116489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6180 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:32146822-32146986 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:32166152-32166877 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32169109-32170104 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32170105-32171101 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:32174641-32175314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32175989-32176662 Neighboring gene Sharpr-MPRA regulatory region 8759 Neighboring gene retroelement silencing factor 1 Neighboring gene MPRA-validated peak1660 silencer Neighboring gene MPRA-validated peak1661 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4334 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:32242366-32242866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32260751-32261388 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32271849-32272465 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32273271-32273980 Neighboring gene BICD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32284941-32285442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6185 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32308728-32309229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32326137-32326651 Neighboring gene WW domain binding protein 2 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:32401528-32402727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6189 Neighboring gene MPRA-validated peak1664 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:32451501-32451672 Neighboring gene MPRA-validated peak1665 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32552979-32553918 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32552038-32552978 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32553919-32554859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32554860-32555799 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32558711-32559696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32563517-32564117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32572153-32573139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32590359-32590858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32597499-32598044 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:32606043-32606832 Neighboring gene FYVE, RhoGEF and PH domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4338 Neighboring gene RNA, U6 small nuclear 494, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:32676322-32676822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:32715914-32716598 Neighboring gene NANOG hESC enhancer GRCh37_chr12:32719564-32720065 Neighboring gene uncharacterized LOC124902914

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal anchor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytoskeletal anchor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dynactin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
     
    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
     
    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-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
     
    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
     
    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
     
    involved_in regulation of microtubule cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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
    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
     
    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)

    NEW Try the new Transcript table

    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, ENST00000548411.6
      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
      UniProtKB/TrEMBL
      A8MVZ6, B9EGC4
      Related
      ENSP00000379107.3, ENST00000395758.3
      Conserved Domains (1) summary
      pfam09730
      Location:74799
      BicD; Microtubule-associated protein Bicaudal-D
    7. NM_001413155.1NP_001400084.1  protein bicaudal D homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    8. NM_001413156.1NP_001400085.1  protein bicaudal D homolog 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344
    9. NM_001413157.1NP_001400086.1  protein bicaudal D homolog 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    10. NM_001413158.1NP_001400087.1  protein bicaudal D homolog 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    11. NM_001413159.1NP_001400088.1  protein bicaudal D homolog 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    12. NM_001413160.1NP_001400089.1  protein bicaudal D homolog 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    13. NM_001413161.1NP_001400090.1  protein bicaudal D homolog 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344
    14. NM_001413163.1NP_001400092.1  protein bicaudal D homolog 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    15. NM_001413164.1NP_001400093.1  protein bicaudal D homolog 1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    16. NM_001413165.1NP_001400094.1  protein bicaudal D homolog 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344
    17. NM_001413166.1NP_001400095.1  protein bicaudal D homolog 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    18. NM_001413167.1NP_001400096.1  protein bicaudal D homolog 1 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    19. NM_001413168.1NP_001400097.1  protein bicaudal D homolog 1 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    20. NM_001413169.1NP_001400098.1  protein bicaudal D homolog 1 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344
    21. NM_001413170.1NP_001400099.1  protein bicaudal D homolog 1 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344
    22. NM_001413171.1NP_001400100.1  protein bicaudal D homolog 1 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    23. NM_001413172.1NP_001400101.1  protein bicaudal D homolog 1 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC026356, AC048344, AC087245
    24. NM_001413173.1NP_001400102.1  protein bicaudal D homolog 1 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC048344
    25. NM_001413174.1NP_001400103.1  protein bicaudal D homolog 1 isoform 25

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC048344
    26. NM_001413176.1NP_001400105.1  protein bicaudal D homolog 1 isoform 26

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC048344
    27. NM_001413177.1NP_001400106.1  protein bicaudal D homolog 1 isoform 27

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC048344
    28. NM_001413178.1NP_001400107.1  protein bicaudal D homolog 1 isoform 28

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC048344
    29. NM_001413179.1NP_001400108.1  protein bicaudal D homolog 1 isoform 29

      Status: REVIEWED

      Source sequence(s)
      AC016954, AC048344
    30. NM_001413180.1NP_001400109.1  protein bicaudal D homolog 1 isoform 30

      Status: REVIEWED

      Source sequence(s)
      AC048344
      UniProtKB/TrEMBL
      F8W056
    31. NM_001413181.1NP_001400110.1  protein bicaudal D homolog 1 isoform 31

      Status: REVIEWED

      Source sequence(s)
      AC048344
    32. NM_001413182.1NP_001400111.1  protein bicaudal D homolog 1 isoform 32

      Status: REVIEWED

      Source sequence(s)
      AC048344
      UniProtKB/TrEMBL
      F8VZX7, F8W056
      Related
      ENSP00000447663.1, ENST00000550207.1
    33. NM_001413183.1NP_001400112.1  protein bicaudal D homolog 1 isoform 33

      Status: REVIEWED

      Source sequence(s)
      AC048344
    34. 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
      A8K2C3, F8W113, O43892, O43893, 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      32106847..32383633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520814.4XP_011519116.1  protein bicaudal D homolog 1 isoform X2

      Conserved Domains (1) summary
      pfam09730
      Location:74799
      BicD; Microtubule-associated protein Bicaudal-D
    2. XM_011520813.3XP_011519115.1  protein bicaudal D homolog 1 isoform X1

      Conserved Domains (1) summary
      pfam09730
      Location:74799
      BicD; Microtubule-associated protein Bicaudal-D
    3. XM_047429325.1XP_047285281.1  protein bicaudal D homolog 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      31983002..32259851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372859.1XP_054228834.1  protein bicaudal D homolog 1 isoform X2

    2. XM_054372858.1XP_054228833.1  protein bicaudal D homolog 1 isoform X1

    3. XM_054372860.1XP_054228835.1  protein bicaudal D homolog 1 isoform X3