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

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: mouse all
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Genomic context

Location:: 12p11.21

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (32106847..32383633)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (31983002..32259851)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (32259781..32536567)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Title: Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
BICD1 functions as a prognostic biomarker and promotes hepatocellular carcinoma progression.
Title: BICD1 functions as a prognostic biomarker and promotes hepatocellular carcinoma progression.
BICD1 mediates HIF1alpha nuclear translocation in mesenchymal stem cells during hypoxia adaptation.
Title: BICD1 mediates HIF1α nuclear translocation in mesenchymal stem cells during hypoxia adaptation.
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.
BICD1 genes may contribute to the decrease in forced vital capacity levels by interacting with PM10 exposure
Title: A genome-wide by PM(10) interaction study identifies novel loci for lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-133101 (e-PCR)
- UniSTS:171015

D12S1308 (e-PCR)
- UniSTS:778

RH66618 (e-PCR)
- UniSTS:62735

RH120415 (e-PCR)
- UniSTS:133410

D20S431 (e-PCR)
- UniSTS:66092

STS-AA018216 (e-PCR)
- UniSTS:50762

RH93400 (e-PCR)
- UniSTS:92009

RH94291 (e-PCR)
- UniSTS:88955

BICD1_8231 (e-PCR)
- UniSTS:467585

WI-5606 (e-PCR)
- UniSTS:33415

fj02h10.x1 (e-PCR)
- UniSTS:198303

D12S911 (e-PCR)
- UniSTS:149921

SHGC-64856 (e-PCR)
- UniSTS:50858

D12S934 (e-PCR)
- UniSTS:149935

RH92916 (e-PCR)
- UniSTS:86996

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 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
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 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
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

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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)

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, ENST00000548411.6

Conserved Domains (1) summary

pfam09730
Location:74 → 799

BicD; Microtubule-associated protein Bicaudal-D
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
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
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
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
NM_001363603.2 → NP_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:74 → 799

BicD; Microtubule-associated protein Bicaudal-D
NM_001413155.1 → NP_001400084.1 protein bicaudal D homolog 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413156.1 → NP_001400085.1 protein bicaudal D homolog 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344
NM_001413157.1 → NP_001400086.1 protein bicaudal D homolog 1 isoform 9

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413158.1 → NP_001400087.1 protein bicaudal D homolog 1 isoform 10

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413159.1 → NP_001400088.1 protein bicaudal D homolog 1 isoform 11

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413160.1 → NP_001400089.1 protein bicaudal D homolog 1 isoform 12

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413161.1 → NP_001400090.1 protein bicaudal D homolog 1 isoform 13

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344
NM_001413163.1 → NP_001400092.1 protein bicaudal D homolog 1 isoform 14

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413164.1 → NP_001400093.1 protein bicaudal D homolog 1 isoform 15

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413165.1 → NP_001400094.1 protein bicaudal D homolog 1 isoform 16

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344
NM_001413166.1 → NP_001400095.1 protein bicaudal D homolog 1 isoform 17

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413167.1 → NP_001400096.1 protein bicaudal D homolog 1 isoform 18

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413168.1 → NP_001400097.1 protein bicaudal D homolog 1 isoform 19

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413169.1 → NP_001400098.1 protein bicaudal D homolog 1 isoform 20

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344
NM_001413170.1 → NP_001400099.1 protein bicaudal D homolog 1 isoform 21

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344
NM_001413171.1 → NP_001400100.1 protein bicaudal D homolog 1 isoform 22

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413172.1 → NP_001400101.1 protein bicaudal D homolog 1 isoform 23

Status: REVIEWED

Source sequence(s)

AC016954, AC026356, AC048344, AC087245
NM_001413173.1 → NP_001400102.1 protein bicaudal D homolog 1 isoform 24

Status: REVIEWED

Source sequence(s)

AC016954, AC048344
NM_001413174.1 → NP_001400103.1 protein bicaudal D homolog 1 isoform 25

Status: REVIEWED

Source sequence(s)

AC016954, AC048344
NM_001413176.1 → NP_001400105.1 protein bicaudal D homolog 1 isoform 26

Status: REVIEWED

Source sequence(s)

AC016954, AC048344
NM_001413177.1 → NP_001400106.1 protein bicaudal D homolog 1 isoform 27

Status: REVIEWED

Source sequence(s)

AC016954, AC048344
NM_001413178.1 → NP_001400107.1 protein bicaudal D homolog 1 isoform 28

Status: REVIEWED

Source sequence(s)

AC016954, AC048344
NM_001413179.1 → NP_001400108.1 protein bicaudal D homolog 1 isoform 29

Status: REVIEWED

Source sequence(s)

AC016954, AC048344
NM_001413180.1 → NP_001400109.1 protein bicaudal D homolog 1 isoform 30

Status: REVIEWED

Source sequence(s)

AC048344
NM_001413181.1 → NP_001400110.1 protein bicaudal D homolog 1 isoform 31

Status: REVIEWED

Source sequence(s)

AC048344
NM_001413182.1 → NP_001400111.1 protein bicaudal D homolog 1 isoform 32

Status: REVIEWED

Source sequence(s)

AC048344

UniProtKB/TrEMBL

F8VZX7

Related

ENSP00000447663.1, ENST00000550207.1
NM_001413183.1 → NP_001400112.1 protein bicaudal D homolog 1 isoform 33

Status: REVIEWED

Source sequence(s)

AC048344
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

A8K2C3, F8W113, O43892, O43893, Q96G01

Related

ENSP00000498700.1, ENST00000652176.1

Conserved Domains (1) summary

pfam09730
Location:74 → 799

BicD; Microtubule-associated protein Bicaudal-D

RNA

NR_148725.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC048344, AC087245, BC136372

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

32106847..32383633

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam09730
Location:74 → 799

BicD; Microtubule-associated protein Bicaudal-D
XM_011520813.3 → XP_011519115.1 protein bicaudal D homolog 1 isoform X1

Conserved Domains (1) summary

pfam09730
Location:74 → 799

BicD; Microtubule-associated protein Bicaudal-D
XM_047429325.1 → XP_047285281.1 protein bicaudal D homolog 1 isoform X3