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CCDC88B coiled-coil domain containing 88B [ Homo sapiens (human) ]

Gene ID: 283234, updated on 13-Aug-2022

Summary

Official Symbol
CCDC88Bprovided by HGNC
Official Full Name
coiled-coil domain containing 88Bprovided by HGNC
Primary source
HGNC:HGNC:26757
See related
Ensembl:ENSG00000168071 MIM:611205; AllianceGenome:HGNC:26757
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
BRLZ; HKRP3; gipie; CCDC88
Summary
This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
Expression
Biased expression in bone marrow (RPKM 19.8), spleen (RPKM 16.5) and 13 other tissues See more
Orthologs
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Genomic context

See CCDC88B in Genome Data Viewer
Location:
11q13.1
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64340204..64357534)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64330213..64347539)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64107676..64125006)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tRNA methyltransferase activator subunit 11-2 Neighboring gene uncharacterized LOC102723878 Neighboring gene peroxiredoxin 5 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3041 Neighboring gene microRNA 7155 Neighboring gene ribosomal protein S6 kinase A4 Neighboring gene microRNA 1237 Neighboring gene uncharacterized LOC124902688

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

Phenotypes

EBI GWAS Catalog

Description
A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.
EBI GWAS Catalog
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00354, FLJ37970, DKFZp434G0920

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cytoskeleton-dependent intracellular transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to protozoan IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of T cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of T cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 88B
Names
78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress
GRP78-interacting protein induced by ER stress
brain leucine zipper domain-containing protein
brain leucine zipper protein
coiled-coil domain containing 88
hook-related protein 3

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_032251.6NP_115627.6  coiled-coil domain-containing protein 88B precursor

    See identical proteins and their annotated locations for NP_115627.6

    Status: REVIEWED

    Source sequence(s)
    AP003774, BC140822, BC141866, BC151222, BE222756
    Consensus CDS
    CCDS8072.2
    UniProtKB/Swiss-Prot
    A6NC98, Q9H0H1
    UniProtKB/TrEMBL
    B2RTU8
    Related
    ENSP00000349238.5, ENST00000356786.10
    Conserved Domains (2) summary
    TIGR02168
    Location:7281295
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cd22230
    Location:10180
    HkD_Gipie; Hook domain found in Gipie (GRP78-interacting protein induced by ER stress) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64340204..64357534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64330213..64347539
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)