Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 283638, updated on 7-Oct-2018

    Summary

    Official Symbol
    CEP170Bprovided by HGNC
    Official Full Name
    centrosomal protein 170Bprovided by HGNC
    Primary source
    HGNC:HGNC:20362
    See related
    Ensembl:ENSG00000099814 Vega:OTTHUMG00000170763
    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
    Expression
    Broad expression in colon (RPKM 9.2), brain (RPKM 9.0) and 23 other tissues See more
    Orthologs

    Genomic context

    See CEP170B in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (104865313..104896770)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105331650..105363107)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S26 pseudogene 49 Neighboring gene ribosomal protein S2 pseudogene 4 Neighboring gene phospholipase D family member 4 Neighboring gene AHNAK nucleoprotein 2 Neighboring gene clathrin binding box of aftiphilin containing 1

    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 Jun 15 11:32:44 2016

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0284, MGC131679

    Gene Ontology Provided by GOA

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

    General protein information

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

    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_001112726.2NP_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)
      AA244396, AB006622, AI828210, AK025023, AL583810
      Consensus CDS
      CCDS45175.1
      UniProtKB/Swiss-Prot
      Q9Y4F5
      Related
      ENSP00000404151.2, OTTHUMP00000244364, ENST00000414716.7, OTTHUMT00000410289
      Conserved Domains (3) summary
      COG1716
      Location:1290
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:590
      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:8431490
      CEP170_C; CEP170 C-terminus
    2. NM_015005.2NP_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)
      AA244396, AB006622, AI828210, AK025023, AL583810
      Consensus CDS
      CCDS45176.2
      UniProtKB/Swiss-Prot
      Q9Y4F5
      Related
      ENSP00000451249.1, OTTHUMP00000244363, ENST00000556508.5, OTTHUMT00000410288
      Conserved Domains (1) summary
      pfam15308
      Location:7731455
      CEP170_C; CEP170 C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      104865313..104896770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536665.2XP_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
      Q9Y4F5
      Conserved Domains (3) summary
      COG1716
      Location:1290
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:590
      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:8431525
      CEP170_C; CEP170 C-terminus
    2. XM_005267550.4XP_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
      Q9Y4F5
      Related
      ENSP00000407238.1, ENST00000453495.2
      Conserved Domains (3) summary
      COG1716
      Location:1290
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:590
      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:8431525
      CEP170_C; CEP170 C-terminus
    3. XM_011536666.2XP_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
      Q9Y4F5
      Conserved Domains (3) summary
      COG1716
      Location:1290
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:590
      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:8431525
      CEP170_C; CEP170 C-terminus
    4. XM_017021230.1XP_016876719.1  centrosomal protein of 170 kDa protein B isoform X6

    5. XM_017021229.1XP_016876718.1  centrosomal protein of 170 kDa protein B isoform X5

    6. XM_017021227.1XP_016876716.1  centrosomal protein of 170 kDa protein B isoform X1

    7. XM_017021228.1XP_016876717.1  centrosomal protein of 170 kDa protein B isoform X2

    8. XM_011536667.2XP_011534969.1  centrosomal protein of 170 kDa protein B isoform X4

      Conserved Domains (1) summary
      pfam15308
      Location:264946
      CEP170_C; CEP170 C-terminus
    Support Center