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CNTRL centriolin [ Homo sapiens (human) ]

Gene ID: 11064, updated on 8-Jul-2019

Summary

Official Symbol
CNTRLprovided by HGNC
Official Full Name
centriolinprovided by HGNC
Primary source
HGNC:HGNC:1858
See related
Ensembl:ENSG00000119397 MIM:605496
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAN; CEP1; CEP110; bA165P4.1
Summary
This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 22.4), lymph node (RPKM 12.1) and 21 other tissues See more
Orthologs

Genomic context

See CNTRL in Genome Data Viewer
Location:
9q33.2
Exon count:
48
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (121074892..121177610)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (123837170..123939888)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TNF receptor associated factor 1 Neighboring gene C5 3' UTR overlapping transcript 1 Neighboring gene complement C5 Neighboring gene RAB14, member RAS oncogene family Neighboring gene RNA, 7SL, cytoplasmic 181, pseudogene Neighboring gene gelsolin

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog

Pathways from BioSystems

  • AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
    AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
  • 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...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Centrosome maturation, organism-specific biosystem (from REACTOME)
    Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
  • 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...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • FGFR1 mutant receptor activation, organism-specific biosystem (from REACTOME)
    FGFR1 mutant receptor activation, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
    Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
  • Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
    Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • 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...
  • Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
    Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
  • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
    Signaling by FGFR in disease, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
  • Signaling by FGFR1 in disease, organism-specific biosystem (from REACTOME)
    Signaling by FGFR1 in disease, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
  • Signaling by cytosolic FGFR1 fusion mutants, organism-specific biosystem (from REACTOME)
    Signaling by cytosolic FGFR1 fusion mutants, organism-specific biosystem8p11 myeloproliferative syndrome (EMS) is an aggressive disorder that is associated with a translocation event at the FGFR1 gene on chromosome 8p11. Typical symptoms upon diagnosis include eosinophi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytoskeletal protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
regulation of G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
regulation of cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Flemming body IEA
Inferred from Electronic Annotation
more info
 
centriolar subdistal appendage IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
centriolin
Names
110 kDa centrosomal protein
bA165P4.1 (ortholog of mouse Ma2a8)
bA165P4.2 (centrosomal protein 1)
centriole associated protein
centrosomal protein 110kDa
centrosomal protein of 110 kDa

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_001330762.2NP_001317691.1  centriolin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL137068
    Consensus CDS
    CCDS83409.1
    UniProtKB/Swiss-Prot
    Q7Z7A1
    UniProtKB/TrEMBL
    B2RP65
    Related
    ENSP00000362956.1, ENST00000373850.5
  2. NM_001369892.1NP_001356821.1  centriolin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL137068
  3. NM_001369893.1NP_001356822.1  centriolin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
    Conserved Domains (6) summary
    COG1196
    Location:4351132
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    pfam14580
    Location:130279
    LRR_9; Leucine-rich repeat
    cl29113
    Location:76181
    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 ...
  4. NM_001369894.1NP_001356823.1  centriolin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
  5. NM_001369895.1NP_001356824.1  centriolin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
  6. NM_001369896.1NP_001356825.1  centriolin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
  7. NM_007018.5NP_008949.4  centriolin isoform 1

    See identical proteins and their annotated locations for NP_008949.4

    Status: REVIEWED

    Source sequence(s)
    AL137068
    Consensus CDS
    CCDS35118.1
    UniProtKB/Swiss-Prot
    Q7Z7A1
    Related
    ENSP00000238341.5, ENST00000238341.9
    Conserved Domains (9) summary
    COG4372
    Location:13201602
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR02168
    Location:4351119
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04523
    Location:15112206
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)

RNA

  1. NR_163191.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL137068
    Related
    ENST00000373847.5

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.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    121074892..121177610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518166.2XP_011516468.1  centriolin isoform X1

    See identical proteins and their annotated locations for XP_011516468.1

    Conserved Domains (9) summary
    COG4372
    Location:13201602
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR02168
    Location:4351119
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04523
    Location:15252221
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)
  2. XM_017014223.2XP_016869712.1  centriolin isoform X4

  3. XM_005251679.4XP_005251736.1  centriolin isoform X2

    See identical proteins and their annotated locations for XP_005251736.1

    UniProtKB/Swiss-Prot
    Q7Z7A1
    Related
    ENSP00000362962.1, ENST00000373855.5
    Conserved Domains (9) summary
    COG4372
    Location:13201602
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR02168
    Location:4351119
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04523
    Location:15112206
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)
  4. XM_006716940.3XP_006717003.1  centriolin isoform X7

    Conserved Domains (7) summary
    TIGR02168
    Location:13462160
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)
  5. XM_017014224.2XP_016869713.1  centriolin isoform X8

  6. XM_011518170.2XP_011516472.1  centriolin isoform X6

    Conserved Domains (10) summary
    COG4372
    Location:12611543
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR02168
    Location:4351060
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04523
    Location:14662162
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11171240
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)
    cl23943
    Location:20572147
    PCRF; PCRF domain
  7. XM_011518168.2XP_011516470.1  centriolin isoform X3

    Conserved Domains (8) summary
    COG4372
    Location:12951577
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR04523
    Location:15002196
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11511274
    Pro-rich; Proline-rich
    cl19219
    Location:488585
    DUF342; Protein of unknown function (DUF342)
  8. XM_011518172.3XP_011516474.1  centriolin isoform X10

    Conserved Domains (6) summary
    COG1196
    Location:4351132
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    pfam14580
    Location:130279
    LRR_9; Leucine-rich repeat
    cl29113
    Location:76181
    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 ...
  9. XM_006716944.4XP_006717007.1  centriolin isoform X12

    Conserved Domains (8) summary
    COG1196
    Location:4351132
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)
    cl21478
    Location:692775
    ATP-synt_B; ATP synthase B/B' CF(0)
  10. XM_017014229.2XP_016869718.1  centriolin isoform X13

  11. XM_011518167.1XP_011516469.1  centriolin isoform X1

    See identical proteins and their annotated locations for XP_011516469.1

    Conserved Domains (9) summary
    COG4372
    Location:13201602
    COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
    TIGR02168
    Location:4351119
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    TIGR04523
    Location:15252221
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00031
    Location:100119
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:126167
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:148205
    LRR_8; Leucine rich repeat
    pfam15240
    Location:11761299
    Pro-rich; Proline-rich
    cl19219
    Location:513610
    DUF342; Protein of unknown function (DUF342)
  12. XM_024447392.1XP_024303160.1  centriolin isoform X5

    Conserved Domains (4) summary
    sd00031
    Location:427
    LRR_1; leucine-rich repeat [structural motif]
    pfam15240
    Location:9691092
    Pro-rich; Proline-rich
    pfam14580
    Location:4112
    LRR_9; Leucine-rich repeat
    cl25732
    Location:11392013
    SMC_N; RecF/RecN/SMC N terminal domain
  13. XM_006716942.1XP_006717005.1  centriolin isoform X9

    Conserved Domains (3) summary
    pfam05483
    Location:7651178
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    TIGR04523
    Location:9731669
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam15240
    Location:624747
    Pro-rich; Proline-rich
  14. XM_011518173.2XP_011516475.1  centriolin isoform X14

    Conserved Domains (4) summary
    pfam05483
    Location:420833
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    TIGR04523
    Location:6281324
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam15240
    Location:279402
    Pro-rich; Proline-rich
    cl23943
    Location:12191309
    PCRF; PCRF domain

RNA

  1. XR_002956747.1 RNA Sequence

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