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CEP170B centrosomal protein 170B [ Homo sapiens (human) ]

Gene ID: 283638, updated on 5-Mar-2024

Summary

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Official Symbol
CEP170Bprovided by HGNC
Official Full Name
centrosomal protein 170Bprovided by HGNC
Primary source
HGNC:HGNC:20362
See related
Ensembl:ENSG00000099814 MIM:620251; AllianceGenome:HGNC:20362
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM68C; CEP170R; KIAA0284
Summary
Predicted to be located in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in colon (RPKM 9.2), brain (RPKM 9.0) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
14q32.33
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104864513..104896747)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99111170..99142641)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105331605..105363084)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105301829-105302097 Neighboring gene ribosomal protein S26 pseudogene 49 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105310441-105311052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105311053-105311664 Neighboring gene ribosomal protein S2 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105322233-105322734 Neighboring gene uncharacterized LOC124903397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105332635-105333610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6205 Neighboring gene microRNA 12121 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105342668-105342853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105343537-105344095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105347753-105348661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105348662-105349569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105372467-105373090 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105381788-105382013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9125 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105391541-105392050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105398641-105399539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105405832-105406332 Neighboring gene phospholipase D family member 4 Neighboring gene AHNAK nucleoprotein 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105433703-105434436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105435172-105435905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6209 Neighboring gene clathrin binding box of aftiphilin containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The microtubule-binding protein Cep170 promotes the targeting of the kinesin-13 depolymerase Kif2b to the mitotic spindle. Welburn JP, et al. Mol Biol Cell, 2012 Dec. PMID 23087211, Free PMC Article
  2. Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. Cristea I, et al. FEBS Lett, 2021 Dec. PMID 34674267
  3. Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins. Ohara O, et al. DNA Res, 1997 Feb 28. PMID 9179496
  4. MARK3-mediated phosphorylation of ARHGEF2 couples microtubules to the actin cytoskeleton to establish cell polarity. Sandí MJ, et al. Sci Signal, 2017 Oct 31. PMID 29089450, Free PMC Article
  5. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. Gorbea C, et al. J Biol Chem, 2010 Oct 8. PMID 20682791, Free PMC Article

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

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
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0284, MGC131679

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
centrosomal protein of 170 kDa protein B
Names
Cep170-related

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_001112726.3 → NP_001106197.1  centrosomal protein of 170 kDa protein B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB006622, AK025023, AL583810
    Consensus CDS
    CCDS45175.1
    UniProtKB/Swiss-Prot
    Q9Y4F5
    Related
    ENSP00000404151.2, ENST00000414716.8
    Conserved Domains (3) summary
    COG1716
    Location:12 → 90
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:5 → 90
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam15308
    Location:843 → 1490
    CEP170_C; CEP170 C-terminus

  2. NM_015005.3 → NP_055820.2  centrosomal protein of 170 kDa protein B isoform 2

    See identical proteins and their annotated locations for NP_055820.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks a portion of the 5' UTR and 5' coding sequence, uses a downstream start codon, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB006622, AK025023, AL583810
    Consensus CDS
    CCDS45176.2
    UniProtKB/Swiss-Prot
    Q9Y4F5
    Related
    ENSP00000451249.1, ENST00000556508.5
    Conserved Domains (1) summary
    pfam15308
    Location:773 → 1455
    CEP170_C; CEP170 C-terminus

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

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    104864513..104896747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431287.1 → XP_047287243.1  centrosomal protein of 170 kDa protein B isoform X3

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5

  2. XM_011536665.3 → XP_011534967.1  centrosomal protein of 170 kDa protein B isoform X3

    See identical proteins and their annotated locations for XP_011534967.1

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5
    Conserved Domains (3) summary
    COG1716
    Location:12 → 90
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:5 → 90
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam15308
    Location:843 → 1525
    CEP170_C; CEP170 C-terminus

  3. XM_005267550.5 → XP_005267607.1  centrosomal protein of 170 kDa protein B isoform X3

    See identical proteins and their annotated locations for XP_005267607.1

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5
    Conserved Domains (3) summary
    COG1716
    Location:12 → 90
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:5 → 90
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam15308
    Location:843 → 1525
    CEP170_C; CEP170 C-terminus

  4. XM_047431286.1 → XP_047287242.1  centrosomal protein of 170 kDa protein B isoform X3

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5

  5. XM_011536666.3 → XP_011534968.1  centrosomal protein of 170 kDa protein B isoform X3

    See identical proteins and their annotated locations for XP_011534968.1

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5
    Conserved Domains (3) summary
    COG1716
    Location:12 → 90
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:5 → 90
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam15308
    Location:843 → 1525
    CEP170_C; CEP170 C-terminus

  6. XM_017021229.2 → XP_016876718.1  centrosomal protein of 170 kDa protein B isoform X5

  7. XM_017021230.2 → XP_016876719.1  centrosomal protein of 170 kDa protein B isoform X6

  8. XM_017021228.2 → XP_016876717.1  centrosomal protein of 170 kDa protein B isoform X2

  9. XM_017021227.2 → XP_016876716.1  centrosomal protein of 170 kDa protein B isoform X1

  10. XM_011536667.3 → XP_011534969.1  centrosomal protein of 170 kDa protein B isoform X4

    Conserved Domains (1) summary
    pfam15308
    Location:264 → 946
    CEP170_C; CEP170 C-terminus

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    99111170..99142641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375890.1 → XP_054231865.1  centrosomal protein of 170 kDa protein B isoform X3

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5

  2. XM_054375889.1 → XP_054231864.1  centrosomal protein of 170 kDa protein B isoform X3

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5

  3. XM_054375891.1 → XP_054231866.1  centrosomal protein of 170 kDa protein B isoform X3

    UniProtKB/Swiss-Prot
    Q2KHR7, Q86TI7, Q9Y4F5

  4. XM_054375893.1 → XP_054231868.1  centrosomal protein of 170 kDa protein B isoform X5

  5. XM_054375894.1 → XP_054231869.1  centrosomal protein of 170 kDa protein B isoform X6

  6. XM_054375888.1 → XP_054231863.1  centrosomal protein of 170 kDa protein B isoform X2

  7. XM_054375887.1 → XP_054231862.1  centrosomal protein of 170 kDa protein B isoform X1

  8. XM_054375892.1 → XP_054231867.1  centrosomal protein of 170 kDa protein B isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y4F5.4 GenPept UniProtKB/Swiss-Prot:Q9Y4F5

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