CCNA1 cyclin A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCNA1provided by HGNC
Official Full Name: cyclin A1provided by HGNC
Primary source: HGNC:HGNC:1577
See related: Ensembl:ENSG00000133101 MIM:604036; AllianceGenome:HGNC:1577
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: CT146
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. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 24.4) See more
Orthologs: mouse all
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Genomic context

Location:: 13q13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (36431517..36442870)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (35651465..35662375)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (37006092..37017007)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Histone methyltransferase EZH2 epigenetically affects CCNA1 expression in acute myeloid leukemia.
Title: Histone methyltransferase EZH2 epigenetically affects CCNA1 expression in acute myeloid leukemia.
The combined detection of Amphiregulin, Cyclin A1 and DDX20/Gemin3 expression predicts aggressive forms of oral squamous cell carcinoma.
Title: The combined detection of Amphiregulin, Cyclin A1 and DDX20/Gemin3 expression predicts aggressive forms of oral squamous cell carcinoma.
CCNA1 gene as a potential diagnostic marker in papillary thyroid cancer.
Title: CCNA1 gene as a potential diagnostic marker in papillary thyroid cancer.
Deubiquitinating enzyme inhibitor alleviates cyclin A1-mediated proteasome inhibitor tolerance in mixed-lineage leukemia.
Title: Deubiquitinating enzyme inhibitor alleviates cyclin A1-mediated proteasome inhibitor tolerance in mixed-lineage leukemia.
Aberrant activation of cyclin A-CDK induces G2/M-phase checkpoint in human cells.
Title: Aberrant activation of cyclin A-CDK induces G2/M-phase checkpoint in human cells.
Expression and prognosis of CyclinA and CDK2 in patients with advanced cervical cancer after chemotherapy.
Title: Expression and prognosis of CyclinA and CDK2 in patients with advanced cervical cancer after chemotherapy.
Value of CCNA1 promoter methylation in triaging ASC-US cytology.
Title: Value of CCNA1 promoter methylation in triaging ASC-US cytology.
immunopeptidome of HeLa cells transfected with Cyclin A1 and HLA-A*02:01 revealed six Cyclin A1-derived HLA ligands
Title: Cancer testis antigen Cyclin A1 harbors several HLA-A*02:01-restricted T cell epitopes, which are presented and recognized in vivo.
Study found the WT1 and CCNA1 mRNA levels to be elevated in bone marrow samples from pediatric acute promyelocytic leukemia patients (APL), and varied in pediatric acute lymphocytic leukemia (ALL) patients. The examination of the CCNA1 promoter identified potential canonical WT1 binding sites within the 3kb region upstream of the transcription start site.
Title: WT1 regulates cyclin A1 expression in K562 cells.
LINC00304 can significantly promote CCNA1 expression in PCa cells.
Title: Androgen-responsive lncRNA LINC00304 promotes cell cycle and proliferation via regulating CCNA1.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	When expressed in astrocytes, neurons, and non-glial 293T cells, HIV-1 Tat interacts with a number of cell cycle-related proteins including cyclin A, cyclin B, cyclin D3, Cdk2, Cdk4, Cdk1/Cdc2, cdc6, p27, p53, p63, hdlg, and PCNA	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of cyclin A1 (CCNA1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44746 (e-PCR)
- UniSTS:3713

PMC193706P2 (e-PCR)
- UniSTS:271757

RH71252 (e-PCR)
- UniSTS:63977

RH25577 (e-PCR)
- UniSTS:83702

Homology

Homologs of the CCNA1 gene: The CCNA1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 444 organisms have orthologs with human gene CCNA1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin-dependent protein serine/threonine kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in male meiosis I	TAS Traceable Author Statement more info	PubMed
involved_in mitotic cell cycle phase transition	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of cyclin A1-CDK2 complex	IEA Inferred from Electronic Annotation more info
part_of cyclin A2-CDK2 complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of cyclin-dependent protein kinase holoenzyme complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: cyclin-A1

Names: testicular tissue protein Li 34

NCBI Reference Sequences (RefSeq)

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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)

NM_001111045.2 → NP_001104515.1 cyclin-A1 isoform b

See identical proteins and their annotated locations for NP_001104515.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a protein (isoform b) that is 1 amino acid shorter than isoform a.

Source sequence(s)

BC036346, DC411883

Consensus CDS

CCDS45030.1

UniProtKB/Swiss-Prot

P78396

UniProtKB/TrEMBL

A0A140VJG0

Related

ENSP00000486017.1, ENST00000625767.1

Conserved Domains (3) summary

pfam00134
Location:213 → 339

Cyclin_N; Cyclin, N-terminal domain

pfam02984
Location:341 → 458

Cyclin_C; Cyclin, C-terminal domain

pfam16500
Location:70 → 144

Cyclin_N2; N-terminal region of cyclin_N
NM_001111046.2 → NP_001104516.1 cyclin-A1 isoform c

See identical proteins and their annotated locations for NP_001104516.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. Transcript variants 3 and 4 encode isoform c, which has a shorter N-terminus when compared to isoform a.

Source sequence(s)

CD171793, U66838

Consensus CDS

CCDS45031.1

UniProtKB/Swiss-Prot

P78396

Related

ENSP00000400666.1, ENST00000440264.5

Conserved Domains (2) summary

cd20560
Location:132 → 294

CYCLIN_CCNA1_rpt1; first cyclin box found in cyclin-A1 (CCNA1)

cd20563
Location:298 → 420

CYCLIN_CCNA1_rpt2; second cyclin box found in cyclin-A1 (CCNA1) and similar proteins
NM_001111047.2 → NP_001104517.1 cyclin-A1 isoform c

See identical proteins and their annotated locations for NP_001104517.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. Transcript variants 3 and 4 encode isoform c, which has a shorter N-terminus when compared to isoform a.

Source sequence(s)

BC036346, DC395631

Consensus CDS

CCDS45031.1

UniProtKB/Swiss-Prot

P78396

Conserved Domains (2) summary

cd20560
Location:132 → 294

CYCLIN_CCNA1_rpt1; first cyclin box found in cyclin-A1 (CCNA1)

cd20563
Location:298 → 420

CYCLIN_CCNA1_rpt2; second cyclin box found in cyclin-A1 (CCNA1) and similar proteins
NM_003914.4 → NP_003905.1 cyclin-A1 isoform a

See identical proteins and their annotated locations for NP_003905.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

DC411883, U66838

Consensus CDS

CCDS9357.1

UniProtKB/Swiss-Prot

P78396

Related

ENSP00000255465.4, ENST00000255465.7

Conserved Domains (3) summary

pfam00134
Location:214 → 340

Cyclin_N; Cyclin, N-terminal domain

pfam02984
Location:342 → 459

Cyclin_C; Cyclin, C-terminal domain

pfam16500
Location:71 → 145

Cyclin_N2; N-terminal region of cyclin_N

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

36431517..36442870

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535294.3 → XP_011533596.1 cyclin-A1 isoform X1

See identical proteins and their annotated locations for XP_011533596.1

UniProtKB/Swiss-Prot

P78396

Related

ENSP00000486482.1, ENST00000630422.2

Conserved Domains (2) summary

cd20560
Location:132 → 294

CYCLIN_CCNA1_rpt1; first cyclin box found in cyclin-A1 (CCNA1)

cd20563
Location:298 → 420

CYCLIN_CCNA1_rpt2; second cyclin box found in cyclin-A1 (CCNA1) and similar proteins
XM_011535295.3 → XP_011533597.1 cyclin-A1 isoform X1

See identical proteins and their annotated locations for XP_011533597.1

UniProtKB/Swiss-Prot

P78396

Conserved Domains (2) summary

cd20560
Location:132 → 294

CYCLIN_CCNA1_rpt1; first cyclin box found in cyclin-A1 (CCNA1)

cd20563
Location:298 → 420

CYCLIN_CCNA1_rpt2; second cyclin box found in cyclin-A1 (CCNA1) and similar proteins
XM_011535296.3 → XP_011533598.1 cyclin-A1 isoform X1

See identical proteins and their annotated locations for XP_011533598.1

UniProtKB/Swiss-Prot

P78396

Conserved Domains (2) summary

cd20560
Location:132 → 294

CYCLIN_CCNA1_rpt1; first cyclin box found in cyclin-A1 (CCNA1)

cd20563
Location:298 → 420

CYCLIN_CCNA1_rpt2; second cyclin box found in cyclin-A1 (CCNA1) and similar proteins