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CEP97 centrosomal protein 97 [ Homo sapiens (human) ]

Gene ID: 79598, updated on 15-Apr-2019

Summary

Official Symbol
CEP97provided by HGNC
Official Full Name
centrosomal protein 97provided by HGNC
Primary source
HGNC:HGNC:26244
See related
Ensembl:ENSG00000182504 MIM:615864
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
LRRIQ2; 2810403B08Rik
Expression
Ubiquitous expression in testis (RPKM 4.1), brain (RPKM 4.0) and 24 other tissues See more
Orthologs

Genomic context

See CEP97 in Genome Data Viewer
Location:
3q12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (101723931..101770562)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (101443436..101489404)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group K member 5 Gag polyprotein Neighboring gene PDCL3 pseudogene 4 Neighboring gene neurexophilin and PC-esterase domain family member 3 Neighboring gene NFKB inhibitor zeta Neighboring gene long intergenic non-protein coding RNA 2085

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

Pathways from BioSystems

  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23047, FLJ26462

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
negative regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
centrosomal protein of 97 kDa
Names
leucine-rich repeat and IQ domain-containing protein 2
leucine-rich repeats and IQ motif containing 2

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_001303401.1NP_001290330.1  centrosomal protein of 97 kDa isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC084198, AK294784, BC041085, DA520309
    Consensus CDS
    CCDS77780.1
    UniProtKB/Swiss-Prot
    Q8IW35
    UniProtKB/TrEMBL
    B4DGU8, E9PG22
    Related
    ENSP00000418185.1, ENST00000494050.5
    Conserved Domains (4) summary
    cd00116
    Location:78200
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:1737
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:124161
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:103156
    LRR_8; Leucine rich repeat
  2. NM_024548.4NP_078824.2  centrosomal protein of 97 kDa isoform 1

    See identical proteins and their annotated locations for NP_078824.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC084198, BC041085, DA520309
    Consensus CDS
    CCDS2944.1
    UniProtKB/Swiss-Prot
    Q8IW35
    Related
    ENSP00000342510.3, ENST00000341893.8
    Conserved Domains (4) summary
    cd00116
    Location:78200
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:1737
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:124161
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:103156
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    101723931..101770562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713743.4XP_006713806.1  centrosomal protein of 97 kDa isoform X1

    Conserved Domains (3) summary
    sd00033
    Location:3959
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:82117
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:113172
    LRR_8; Leucine rich repeat
  2. XM_017007178.2XP_016862667.1  centrosomal protein of 97 kDa isoform X2

  3. XM_011513127.1XP_011511429.1  centrosomal protein of 97 kDa isoform X3

    Conserved Domains (3) summary
    sd00031
    Location:1031
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:845
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:3190
    LRR_8; Leucine rich repeat
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