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CNTRL centriolin [ Homo sapiens (human) ]

Gene ID: 11064, updated on 6-Sep-2022

Summary

Official Symbol
CNTRLprovided by HGNC
Official Full Name
centriolinprovided by HGNC
Primary source
HGNC:HGNC:1858
See related
Ensembl:ENSG00000119397 MIM:605496; AllianceGenome:HGNC:1858
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
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Genomic context

See CNTRL in Genome Data Viewer
Location:
9q33.2
Exon count:
49
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (121074955..121177610)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (133271062..133373637)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (123837233..123939888)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene C5 3' UTR overlapping transcript 1 Neighboring gene complement C5 Neighboring gene uncharacterized LOC124902261 Neighboring gene U2 spliceosomal RNA 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in aorta development IEA
Inferred from Electronic Annotation
more info
 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Flemming body IEA
Inferred from Electronic Annotation
more info
 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
part_of centriolar subdistal appendage IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in meiotic spindle pole IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitotic spindle pole IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

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)

NEW Try the new Transcript table

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, ENST00000373850.6
  2. NM_001369892.1NP_001356821.1  centriolin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL137068
    Conserved Domains (2) summary
    TIGR02168
    Location:7941608
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam15240
    Location:624747
    Pro-rich; Proline-rich
  3. NM_001369893.1NP_001356822.1  centriolin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
    Related
    ENSP00000362953.2, ENST00000373847.6
    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
    Related
    ENST00000688832.1
    Conserved Domains (6) summary
    COG1196
    Location:4541151
    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:11951318
    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 ...
  5. NM_001369895.1NP_001356824.1  centriolin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
    Conserved Domains (4) summary
    COG1196
    Location:268965
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    sd00031
    Location:427
    LRR_1; leucine-rich repeat [structural motif]
    pfam15240
    Location:10091132
    Pro-rich; Proline-rich
    pfam14580
    Location:4112
    LRR_9; Leucine-rich repeat
  6. NM_001369896.1NP_001356825.1  centriolin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
    Related
    ENST00000685174.1
    Conserved Domains (3) summary
    sd00033
    Location:127148
    LRR_RI; leucine-rich repeat [structural motif]
    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 ...
  7. NM_007018.6NP_008949.4  centriolin isoform 1

    See identical proteins and their annotated locations for NP_008949.4

    Status: REVIEWED

    Source sequence(s)
    AC006430, AL137068
    Consensus CDS
    CCDS35118.1
    UniProtKB/Swiss-Prot
    Q7Z7A1, Q9Y489
    Related
    ENSP00000362962.1, ENST00000373855.7
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    121074955..121177610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422667.1XP_047278623.1  centriolin isoform X1

  2. XM_047422671.1XP_047278627.1  centriolin isoform X5

  3. XM_047422669.1XP_047278625.1  centriolin isoform X2

  4. XM_047422673.1XP_047278629.1  centriolin isoform X7

  5. XM_047422678.1XP_047278634.1  centriolin isoform X11

  6. XM_047422683.1XP_047278639.1  centriolin isoform X17

  7. XM_047422677.1XP_047278633.1  centriolin isoform X10

  8. XM_047422670.1XP_047278626.1  centriolin isoform X4

  9. XM_047422681.1XP_047278637.1  centriolin isoform X15

  10. XM_011518166.3XP_011516468.1  centriolin isoform X3

    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)
  11. XM_006716940.4XP_006717003.1  centriolin isoform X13

    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)
  12. XM_017014224.3XP_016869713.1  centriolin isoform X21

  13. XM_011518170.3XP_011516472.1  centriolin isoform X12

    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
  14. XM_011518168.3XP_011516470.1  centriolin isoform X6

    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)
  15. XM_047422674.1XP_047278630.1  centriolin isoform X8

  16. XM_047422687.1XP_047278643.1  centriolin isoform X18

  17. XM_047422675.1XP_047278631.1  centriolin isoform X9

  18. XM_047422690.1XP_047278646.1  centriolin isoform X22

  19. XM_047422668.1XP_047278624.1  centriolin isoform X1

  20. XM_011518167.1XP_011516469.1  centriolin isoform X3

    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)
  21. XM_047422682.1XP_047278638.1  centriolin isoform X16

    UniProtKB/Swiss-Prot
    Q9Y489
  22. XM_047422686.1XP_047278642.1  centriolin isoform X13

  23. XM_047422679.1XP_047278635.1  centriolin isoform X12

  24. XM_047422672.1XP_047278628.1  centriolin isoform X6

  25. XM_047422685.1XP_047278641.1  centriolin isoform X8

  26. XM_047422689.1XP_047278645.1  centriolin isoform X20

  27. XM_047422684.1XP_047278640.1  centriolin isoform X18

  28. XM_047422676.1XP_047278632.1  centriolin isoform X9

  29. XM_047422680.1XP_047278636.1  centriolin isoform X14

  30. XM_047422691.1XP_047278647.1  centriolin isoform X23

  31. XM_047422692.1XP_047278648.1  centriolin isoform X24

  32. XM_011518172.4XP_011516474.1  centriolin isoform X25

    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 ...
  33. XM_047422694.1XP_047278650.1  centriolin isoform X27

  34. XM_047422693.1XP_047278649.1  centriolin isoform X26

  35. XM_047422695.1XP_047278651.1  centriolin isoform X28

  36. XM_047422688.1XP_047278644.1  centriolin isoform X19

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    133271062..133373637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)