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CCNH cyclin H [ Homo sapiens (human) ]

Gene ID: 902, updated on 15-Apr-2019

Summary

Official Symbol
CCNHprovided by HGNC
Official Full Name
cyclin Hprovided by HGNC
Primary source
HGNC:HGNC:1594
See related
Ensembl:ENSG00000134480 MIM:601953
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
CAK; p34; p37; CycH
Summary
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]
Expression
Ubiquitous expression in placenta (RPKM 15.0), testis (RPKM 11.2) and 25 other tissues See more
Orthologs

Genomic context

See CCNH in Genome Data Viewer
Location:
5q14.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (87311480..87413033, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (86687310..86708850, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RAS p21 protein activator 1 Neighboring gene RNA, 7SL, cytoplasmic 629, pseudogene Neighboring gene RNA, U6 small nuclear 606, pseudogene Neighboring gene uncharacterized LOC644285 Neighboring gene uncharacterized LOC105379066 Neighboring gene RNA, U6 small nuclear 727, pseudogene Neighboring gene long intergenic non-protein coding RNA 2488

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
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
tat TFIIH subunits CDK7 and cyclin H have been identified as two components associated with the Tat-associated CTD kinase (TTK) that binds to HIV-1 Tat PubMed
tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed
Vpr vpr As a component of the TFIIH transcription complex, cyclin H inhibits HIV-1 Vpr cell cycle-arresting function PubMed
vpr As a component of the TFIIH transcription complex, cyclin H enhances the synergistic activation of glucocorticoid receptor by HIV-1 Vpr and p300 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cyclin-dependent protein kinase activating kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cyclin-dependent protein kinase activating kinase holoenzyme complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIIK complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cyclin-H
Names
CAK complex subunit
CDK-activating kinase complex subunit
MO15-associated protein
cyclin-dependent kinase-activating kinase complex subunit

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_001199189.1NP_001186118.1  cyclin-H isoform 2

    See identical proteins and their annotated locations for NP_001186118.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and the 3' UTR and coding sequence, and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (2) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 3.
    Source sequence(s)
    AI761780, BX537673, CB240639
    Related
    ENSP00000426075.1, ENST00000504878.1
    Conserved Domains (3) summary
    TIGR00569
    Location:1255
    ccl1; cyclin ccl1
    smart00385
    Location:999
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
    pfam16899
    Location:109209
    Cyclin_C_2; Cyclin C-terminal domain
  2. NM_001239.4NP_001230.1  cyclin-H isoform 1

    See identical proteins and their annotated locations for NP_001230.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 3.
    Source sequence(s)
    BC005280, BC016705, BP244381
    Consensus CDS
    CCDS4064.1
    UniProtKB/Swiss-Prot
    P51946
    Related
    ENSP00000256897.4, ENST00000256897.9
    Conserved Domains (1) summary
    TIGR00569
    Location:2308
    ccl1; cyclin ccl1
  3. NM_001363539.1NP_001350468.1  cyclin-H isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (3).
    Source sequence(s)
    AC018754
    Consensus CDS
    CCDS87309.1
    Conserved Domains (1) summary
    TIGR00569
    Location:2308
    ccl1; cyclin ccl1
  4. NM_001364075.1NP_001351004.1  cyclin-H isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (4) is the same length as isoform 3 but has a distinct C-terminus.
    Source sequence(s)
    AC018754, AC035142
    Conserved Domains (1) summary
    TIGR00569
    Location:2308
    ccl1; cyclin ccl1
  5. NM_001364076.1NP_001351005.1  cyclin-H isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (5) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AC018754
    Conserved Domains (1) summary
    TIGR00569
    Location:1255
    ccl1; cyclin ccl1

RNA

  1. NR_157068.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018754, AC035142
  2. NR_157069.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018754, AC035142
  3. NR_157070.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018754, AC035142
  4. NR_157071.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018754

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_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    87311480..87413033 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543706.3XP_011542008.1  cyclin-H isoform X2

    Related
    ENSP00000498750.1, ENST00000651575.1
    Conserved Domains (1) summary
    TIGR00569
    Location:2308
    ccl1; cyclin ccl1
  2. XM_017010014.2XP_016865503.1  cyclin-H isoform X4

    Conserved Domains (1) summary
    TIGR00569
    Location:1255
    ccl1; cyclin ccl1
  3. XM_005248627.4XP_005248684.1  cyclin-H isoform X1

    See identical proteins and their annotated locations for XP_005248684.1

    Conserved Domains (3) summary
    TIGR00569
    Location:2308
    ccl1; cyclin ccl1
    smart00385
    Location:62152
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
    pfam16899
    Location:162262
    Cyclin_C_2; Cyclin C-terminal domain
  4. XM_005248629.4XP_005248686.1  cyclin-H isoform X3

    See identical proteins and their annotated locations for XP_005248686.1

    Related
    ENSP00000426454.1, ENST00000508855.5
    Conserved Domains (3) summary
    TIGR00569
    Location:1255
    ccl1; cyclin ccl1
    smart00385
    Location:999
    CYCLIN; domain present in cyclins, TFIIB and Retinoblastoma
    pfam16899
    Location:109209
    Cyclin_C_2; Cyclin C-terminal domain

RNA

  1. XR_001742324.2 RNA Sequence

  2. XR_001742326.1 RNA Sequence

  3. XR_001742328.2 RNA Sequence

  4. XR_001742327.2 RNA Sequence

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