CCNH - cyclin H Gene

Homo sapiens

Also known as CAK; p34; p37; CycH

Gene ID: 902 | Gene type: protein coding

About CCNH

Cytogenetic location: 5q14.3 Genomic coordinates (GRCh38): 5:87,311,471-87,412,930 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues and 6 paralogues. Ubiquitous expression in placenta (RPKM 15.0), testis (RPKM 11.2) and 25 other tissues.

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]

CCNH Products(5)

mRNA	Protein	Name
NM_001199189.2	NP_001186118.1	cyclin-H isoform 2
NM_001239.4	NP_001230.1	cyclin-H isoform 1
NM_001363539.2	NP_001350468.1	cyclin-H isoform 3
NM_001364075.2	NP_001351004.1	cyclin-H isoform 4
NM_001364076.2	NP_001351005.1	cyclin-H isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to RNA polymerase II general transcription initiation factor activity	IDA IDA: Inferred from direct assay	7533895	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8521818	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	23393140	GOA
involved in regulation of G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	23622515	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9852112	GOA
involved in transcription initiation at RNA polymerase II promoter	IDA IDA: Inferred from direct assay	7533895	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of CAK-ERCC2 complex	IDA IDA: Inferred from direct assay	8692841	GOA
part of cyclin-dependent protein kinase holoenzyme complex	IDA IDA: Inferred from direct assay	23622515	GOA
part of transcription factor TFIIH core complex	IDA IDA: Inferred from direct assay	8692841	GOA
part of transcription factor TFIIH holo complex	IDA IDA: Inferred from direct assay	9852112	GOA
part of transcription factor TFIIK complex	IDA IDA: Inferred from direct assay	8692841	GOA
part of transcription factor TFIIK complex	IMP IMP: Inferred from mutant phenotype	23393140	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCNH Protein Structure

Cyclin_N

0
100
200
300
323 a.a.

Protein Preferred Names

Protein Names

cyclin-H

CAK complex subunit

Recombinant CCNH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70041	Cyclin-H/CCNH Protein, Human (His)	P51946 (M1-L323)	≥95%
HY-P75361	CDK7-CCNH-MNAT1 Protein, Human (sf9, His)	P50613 (A2-F346)&P51946 (Y2-L323)&P51948 (D2-S309)	≥95%

Related Diseases

Diseases

Alias

Basal Cell Carcinoma, Multiple

Multiple Basal Cell Carcinoma

Angioosteohypertrophic Syndrome

Klippel-Trenaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Capillary Malformation-Arteriovenous Malformation 1

Parkes Weber Syndrome	Capillary Malformation-Arteriovenous Malformation
Capillary Malformation-Arteriovenous Malformation Syndrome	CMAVM1
Cmavm	Cm-Avm Syndrome
Pkws	Cm-Avm
Parkes-Weber Syndrome	Capillary Malformation-Arteriovenous Malformation, Type 1

Basal Cell Carcinoma 1

Basal Cell Carcinoma, Susceptibility To, 1	Basal Cell Carcinoma
BCC1	BCC
Multiple Basal Cell Carcinoma	Non-Syndromic Basal Cell Carcinoma
Carcinoma, Basal Cell, Susceptibility To, Type 1	Experimental Organism Basal Cell Carcinoma
Basal Cell Carcinoma, Multiple

Telangiectasia, Hereditary Hemorrhagic, Type 1

Orw Disease	HHT1
Hht	Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber
Osler-Rendu-Weber Disease	Telangiectasia, Hereditary Hemorrhagic, 1
Hereditary Hemorrhagic Telangiectasia Of Rendu, Osler, And Weber	Orw1
Osler-Rendu-Weber Syndrome	Osler-Rendu-Weber Syndrome 1
Telangiectasia Hemorrhagic, Hereditary, Type 1	Hereditary Hemorrhagic Telangiectasia

Hemangioma, Capillary Infantile

HCI	Capillary Infantile Hemangioma
Hemangioma, Hereditary Capillary	Hemangioma, Capillary Infantile, Susceptibility To
Hemangioma, Capillary Infantile, Somatic	Hemangioma Hereditary Capillary

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease	Hht
Osler-Weber-Rendu Disease	Telangiectasia, Hereditary Hemorrhagic
Osler Hemorrhagic Telangiectasia Syndrome	Orw Disease
Osler Weber Rendu Syndrome	Osler-Rendu-Weber Disease
Osler-Weber-Rendu Syndrome	Rendu-Osler Disease
Telangiectasia Hereditary Hemorrhagic	Telangiectasia Hemorrhagic, Hereditary
Hht - [Hereditary Haemorrhagic Telangiectasia]	Osler Haemorrhagic Telangiectasia Syndrome

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome	KTS
Ktw Syndrome	Angioosteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome	Klippel Trenaunay Syndrome
Klippel-Trénaunay-Weber Syndrome	Haemangiectatic Hypertrophy
Weber-Klippel-Trenaunay	Congenital Dysplastic Angiopathy
Klippel-Trenaunay Disease	Weber Klippel Trenaunay

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Xeroderma Pigmentosum, Complementation Group B

Xeroderma Pigmentosum Group B	Xeroderma Pigmentosum, Group B
XPB	Xpbc
Xp Group B	Xp, Group B
Xeroderma Pigmentosum Complementation Group B	XP-B
Xeroderma Pigmentosum Group B With Cockayne Syndrome	Xeroderma Pigmentosum Ii
Xp2	Xp-B/Cs

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D	Xpdc
Xeroderma Pigmentosum Iv	XPD
Xeroderma Pigmentosum Group D	Xeroderma Pigmentosum Viii
Xp Group D	Xp Group H
Xp4	Xp8
Xph	Xp, Group D
Xp4 Xeroderma Pigmentosum Viii, Formerly	Xp8, Formerly
Xp, Group H, Formerly	Xph, Formerly
Xeroderma Pigmentosum Complementation Group D	XP-D
Xp-D/Cs

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G	Xeroderma Pigmentosum Vii
Xp7	XPG
Xeroderma Pigmentosum Group G	Xp Group G
Xp, Group G	Xpgc
Xeroderma Pigmentosum, Group G/Cockayne Syndrome	Xeroderma Pigmentosum, Type 7
Xeroderma Pigmentosum Complementation Group G	XP-G
Xp-G/Cs	Xeroderma Pigmentosum Group G/Cockayne Syndrome

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations

Star Syndrome	Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Syndactyly With Renal And Anogenital Malformations	STAR
Syndactyly, Telecanthus, Anogenital And Renal Malformations	Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02132	CCNH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CCNH	VGNC	VGNC:60561
Mus musculus	CCNH	MGD	MGI:1913921
Canis familiaris	CCNH	VGNC	VGNC:38902
Macaca mulatta	CCNH	VGNC	VGNC:70732
Rattus norvegicus	CCNH	RGD	RGD:69419
Bos taurus	CCNH	VGNC	VGNC:97249
Others	CCNH	NCBI

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