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

Gene ID: 283234, updated on 22-Aug-2020

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
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

Genomic context

See CCDC88B in Genome Data Viewer
Location:
11q13.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64340203..64357534)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64107690..64125006)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene tRNA methyltransferase 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 long intergenic non-protein coding RNA 2723

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

Associated conditions

Description Tests
A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.
GeneReviews: Not available
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available

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

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)

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
    UniProtKB/TrEMBL
    B2RTU8
    Related
    ENSP00000349238.5, ENST00000356786.10
    Conserved Domains (3) summary
    COG1196
    Location:7251303
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:2591011
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15724
    Location:520669
    TMEM119; TMEM119 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64340203..64357534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448450.1XP_024304218.1  coiled-coil domain-containing protein 88B isoform X2

    Conserved Domains (1) summary
    cl25732
    Location:259964
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_017017601.1XP_016873090.1  coiled-coil domain-containing protein 88B isoform X7

  3. XM_011544959.2XP_011543261.1  coiled-coil domain-containing protein 88B isoform X4

    Related
    ENST00000463837.5
    Conserved Domains (2) summary
    TIGR02168
    Location:259964
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15724
    Location:520669
    TMEM119; TMEM119 family
  4. XM_011544957.2XP_011543259.1  coiled-coil domain-containing protein 88B isoform X1

    Conserved Domains (2) summary
    TIGR02168
    Location:259964
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15724
    Location:520669
    TMEM119; TMEM119 family
  5. XM_024448451.1XP_024304219.1  coiled-coil domain-containing protein 88B isoform X5

    Conserved Domains (2) summary
    cl25732
    Location:7251295
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26464
    Location:487666
    Atrophin-1; Atrophin-1 family
  6. XM_011544960.2XP_011543262.1  coiled-coil domain-containing protein 88B isoform X6

    Conserved Domains (3) summary
    COG1196
    Location:2591098
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15619
    Location:10331222
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam15724
    Location:520669
    TMEM119; TMEM119 family
  7. XM_006718519.4XP_006718582.1  coiled-coil domain-containing protein 88B isoform X3

    Conserved Domains (3) summary
    TIGR02168
    Location:2591011
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15619
    Location:10651254
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam15724
    Location:520669
    TMEM119; TMEM119 family
  8. XM_011544962.3XP_011543264.1  coiled-coil domain-containing protein 88B isoform X8

    Related
    ENSP00000352974.2, ENST00000359902.2
    Conserved Domains (2) summary
    pfam14197
    Location:365430
    Cep57_CLD_2; Centrosome localization domain of PPC89
    cl23720
    Location:402526
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RNA

  1. XR_949893.3 RNA Sequence

  2. XR_949894.3 RNA Sequence

  3. XR_002957140.1 RNA Sequence

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