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

    Gene ID: 283638, updated on 2-Nov-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, Nov 2024]
    Expression
    Broad expression in colon (RPKM 9.2), brain (RPKM 9.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP170B in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104864513..104896747)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99111170..99142641)
    RS_2024_09 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 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

    Phenotypes

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    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)

    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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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