CNPPD1 cyclin Pas1/PHO80 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CNPPD1provided by HGNC
Official Full Name: cyclin Pas1/PHO80 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:25220
See related: Ensembl:ENSG00000115649 AllianceGenome:HGNC:25220
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI-57; C2orf24
Summary: Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be located in membrane. Predicted to be part of cyclin-dependent protein kinase holoenzyme complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney (RPKM 36.9), adrenal (RPKM 24.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (219171897..219178156, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219660322..219666583, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (220036619..220042878, complement)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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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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
enables protein kinase binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of cyclin-dependent protein kinase holoenzyme complex	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein CNPPD1

Names: cyclin Pas1/PHO80 domain-containing protein 1

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_001321389.2 → NP_001308318.2 protein CNPPD1

Status: VALIDATED

Source sequence(s)

AC068946

Consensus CDS

CCDS2433.1

UniProtKB/Swiss-Prot

B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0

UniProtKB/TrEMBL

B3KQN8

Related

ENSP00000386277.1, ENST00000409789.5
NM_001321390.2 → NP_001308319.2 protein CNPPD1

Status: VALIDATED

Source sequence(s)

AC068946

Consensus CDS

CCDS2433.1

UniProtKB/Swiss-Prot

B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0

UniProtKB/TrEMBL

B3KQN8

Conserved Domains (1) summary

cl00050
Location:85 → 174

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
NM_001321391.2 → NP_001308320.2 protein CNPPD1

Status: VALIDATED

Source sequence(s)

AC068946

Consensus CDS

CCDS2433.1

UniProtKB/Swiss-Prot

B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0

UniProtKB/TrEMBL

B3KQN8

Conserved Domains (1) summary

cl00050
Location:85 → 174

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
NM_015680.6 → NP_056495.4 protein CNPPD1

Status: VALIDATED

Source sequence(s)

AC068946

Consensus CDS

CCDS2433.1

UniProtKB/Swiss-Prot

B2RC77, O75548, Q9BV87, Q9H4N0, Q9UQN0

UniProtKB/TrEMBL

B3KQN8

Related

ENSP00000353698.5, ENST00000360507.10

Conserved Domains (1) summary

cl00050
Location:85 → 174

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...