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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
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