CCNDBP1 cyclin D1 binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCNDBP1provided by HGNC
Official Full Name: cyclin D1 binding protein 1provided by HGNC
Primary source: HGNC:HGNC:1587
See related: Ensembl:ENSG00000166946 MIM:607089; AllianceGenome:HGNC:1587
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: HHM; DIP1; GCIP
Summary: This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]
Expression: Ubiquitous expression in bone marrow (RPKM 23.1), placenta (RPKM 18.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (43185403..43197177)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (40992692..41004466)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (43477601..43489375)

Chromosome 15 - NC_000015.10 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?

rs66651343 and rs12909095 confer lung cancer risk by regulating CCNDBP1 expression.
Title: rs66651343 and rs12909095 confer lung cancer risk by regulating CCNDBP1 expression.
Grap2 cyclin D interacting protein negatively regulates CREBbinding protein, inhibiting fibroblastlike synoviocyte growth.
Title: Grap2 cyclin D interacting protein negatively regulates CREB‑binding protein, inhibiting fibroblast‑like synoviocyte growth.
MEK2 is a critical modulating mechanism to down-regulate GCIP stability and function in cancer cells.
Title: MEK2 is a critical modulating mechanism to down-regulate GCIP stability and function in cancer cells.
Data suggest MAID/CCNDBP1 inhibits cell migration induced by TGFB1 (transforming growth factor-beta1) but not by BMP4 (bone morphogenetic protein-4); MAID does not alter cell proliferation, epithelial-mesenchymal transition, or TGFB3-induced apoptosis.
Title: Maid is a negative regulator of transforming growth factor-β-induced cell migration.
GCIP underexpression is associated with Osteosarcoma.
Title: miR-9 Modulates Osteosarcoma Cell Growth by Targeting the GCIP Tumor Suppressor.
Data indicate that grap2 and cyclin D1 interacting protein (GCIP) and inhibitor of of DNA binding/differentiation 1 (Id1) are inversely expressed in non-small cell lung cancer (NSCLC) cell lines and specimens.
Title: GCIP functions as a tumor suppressor in non-small cell lung cancer by suppressing Id1-mediated tumor promotion.
The first structure of a free-standing human dominant-negative helix-loop-helix protein (DIP1) was reported. DIP1 adopts a V-shaped conformation, with N-terminal and C-terminal five-helix bundles connected by the HLH region.
Title: Structure of a dominant-negative helix-loop-helix transcriptional regulator suggests mechanisms of autoinhibition.
It is proposed for the first time that Rad may promote carcinogenesis at least in part by inhibiting GCIP-mediated tumor suppression.
Title: A novel senescence-evasion mechanism involving Grap2 and Cyclin D interacting protein inactivation by Ras associated with diabetes in cancer cells under doxorubicin treatment.
Crystallization and preliminary X-ray diffraction analysis of GCIP/HHM transcriptional regulator
Title: Crystallization and preliminary X-ray diffraction analysis of GCIP/HHM transcriptional regulator.
decreased expression of GCIP in vivo is present in human breast carcinoma.
Title: Immunohistochemical expression of GCIP in breast carcinoma: relationship with tumour grade, disease-free survival, mucinous differentiation and response to chemotherapy.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71146 (e-PCR)
- UniSTS:43540

STS-R42458 (e-PCR)
- UniSTS:34346

WI-16359 (e-PCR)
- UniSTS:48179

D15S1287 (e-PCR)
- UniSTS:13167

A002Q01 (e-PCR)
- UniSTS:9891

RH44772 (e-PCR)
- UniSTS:59594

D11S3316 (e-PCR)
- UniSTS:152558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclin-D1-binding protein 1

Names: D-type cyclin-interacting protein 1; cyclin D-type binding-protein 1; grap2 and cyclin-D-interacting protein; human homolog of Maid

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_012142.5 → NP_036274.3 cyclin-D1-binding protein 1

See identical proteins and their annotated locations for NP_036274.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein.

Source sequence(s)

AC068724, AF132034, AI953224, DA210890

Consensus CDS

CCDS10092.1

UniProtKB/Swiss-Prot

A8K3Q0, A8K3U2, O95273, Q6ZQN9, Q7Z519, Q8NBS7, Q8NBY2, Q9NS19, Q9NYH3, Q9UHX9

Related

ENSP00000300213.4, ENST00000300213.9

Conserved Domains (1) summary

pfam13324
Location:55 → 320

GCIP; Grap2 and cyclin-D-interacting

RNA

NR_027513.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068724, AF132034, AI953224, BI911845, DA210890
NR_027514.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068724, AF132034, AI953224, AK295017, DA210890
NR_045998.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068724, AI953224, AK290707, DA506028
NR_045999.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two alternate exons in the 5' region and one alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC068724, AI953224, BQ439439, DA506028

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

43185403..43197177

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432328.1 → XP_047288284.1 cyclin-D1-binding protein 1 isoform X1

UniProtKB/TrEMBL

B4DHB5

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

40992692..41004466

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377649.1 → XP_054233624.1 cyclin-D1-binding protein 1 isoform X1

UniProtKB/TrEMBL

B4DHB5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_037370.2: Suppressed sequence

Description

NM_037370.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the 5' end of the transcript appears to be incompletely processed.