Human Gene CENPH (ENST00000283006.7) from GENCODE V44
  Description: Homo sapiens centromere protein H (CENPH), mRNA. (from RefSeq NM_022909)
RefSeq Summary (NM_022909): Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000283006.7
Gencode Gene: ENSG00000153044.10
Transcript (Including UTRs)
   Position: hg38 chr5:69,189,583-69,210,357 Size: 20,775 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr5:69,189,635-69,209,799 Size: 20,165 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:69,189,583-69,210,357)mRNA (may differ from genome)Protein (247 aa)
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-  Comments and Description Text from UniProtKB
  ID: CENPH_HUMAN
DESCRIPTION: RecName: Full=Centromere protein H; Short=CENP-H; AltName: Full=Interphase centromere complex protein 35;
FUNCTION: Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate.
SUBUNIT: Self-associates. Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU. The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. Interacts directly with CENPK. Interacts with KIF2C and NDC80. Interacts with TRIM36 (By similarity).
INTERACTION: O14777:NDC80; NbExp=3; IntAct=EBI-1003700, EBI-715849;
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Associates with active centromere-kinetochore complexes throughout the cell cycle. Colocalizes with inner kinetochore plate proteins CENPA and CENPC1 during both interphase and metaphase.
SIMILARITY: Belongs to the centromere protein H family.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.69 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 151.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.5052-0.240 Picture PostScript Text
3' UTR -138.70558-0.249 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008426 - Centromere_CenpH

Pfam Domains:
PF05837 - Centromere protein H (CENP-H)

ModBase Predicted Comparative 3D Structure on Q9H3R5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
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Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043515 kinetochore binding

Biological Process:
GO:0034080 CENP-A containing nucleosome assembly
GO:0051382 kinetochore assembly
GO:0051383 kinetochore organization

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK290746 - Homo sapiens cDNA FLJ76140 complete cds, highly similar to Homo sapiens centromere protein H (CENPH), mRNA.
BC015355 - Homo sapiens centromere protein H, mRNA (cDNA clone MGC:21458 IMAGE:3451767), complete cds.
BC012024 - Homo sapiens centromere protein H, mRNA (cDNA clone MGC:21431 IMAGE:4510607), complete cds.
AK123761 - Homo sapiens cDNA FLJ41767 fis, clone IMR322006495, highly similar to Centromere protein H (Kinetochore protein CENP-H).
KU178758 - Homo sapiens centromere protein H isoform 1 (CENPH) mRNA, partial cds.
KU178759 - Homo sapiens centromere protein H isoform 2 (CENPH) mRNA, complete cds, alternatively spliced.
DQ894658 - Synthetic construct Homo sapiens clone IMAGE:100009118; FLH177277.01L; RZPDo839F08123D centromere protein H (CENPH) gene, encodes complete protein.
AB035124 - Homo sapiens mRNA for kinetochore protein CENP-H, complete cds.
KJ894593 - Synthetic construct Homo sapiens clone ccsbBroadEn_03987 CENPH gene, encodes complete protein.
CU680168 - Synthetic construct Homo sapiens gateway clone IMAGE:100016885 5' read CENPH mRNA.
JD040889 - Sequence 21913 from Patent EP1572962.
DQ587113 - Homo sapiens piRNA piR-54225, complete sequence.
JD385540 - Sequence 366564 from Patent EP1572962.
JD564604 - Sequence 545628 from Patent EP1572962.
JD564603 - Sequence 545627 from Patent EP1572962.
JD531657 - Sequence 512681 from Patent EP1572962.
JD396176 - Sequence 377200 from Patent EP1572962.
JD409266 - Sequence 390290 from Patent EP1572962.
JD489082 - Sequence 470106 from Patent EP1572962.
JD309789 - Sequence 290813 from Patent EP1572962.
JD070002 - Sequence 51026 from Patent EP1572962.
JD502842 - Sequence 483866 from Patent EP1572962.
JD479922 - Sequence 460946 from Patent EP1572962.
JD200677 - Sequence 181701 from Patent EP1572962.
JD476477 - Sequence 457501 from Patent EP1572962.
JD411595 - Sequence 392619 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H3R5 (Reactome details) participates in the following event(s):

R-HSA-606349 Mis18 complex binds the centromere
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-606326 HJURP:CENPA complex localizes to the centromere
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-774815 Nucleosome assembly
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-73886 Chromosome Maintenance
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-1640170 Cell Cycle
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3Y1, CENPH_HUMAN, ENST00000283006.1, ENST00000283006.2, ENST00000283006.3, ENST00000283006.4, ENST00000283006.5, ENST00000283006.6, ICEN35, NM_022909, Q9H3R5, uc003jvp.1, uc003jvp.2, uc003jvp.3, uc003jvp.4
UCSC ID: ENST00000283006.7
RefSeq Accession: NM_022909
Protein: Q9H3R5 (aka CENPH_HUMAN)
CCDS: CCDS3998.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.