PIMREG PICALM interacting mitotic regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIMREGprovided by HGNC
Official Full Name: PICALM interacting mitotic regulatorprovided by HGNC
Primary source: HGNC:HGNC:25483
See related: Ensembl:ENSG00000129195 MIM:617611; AllianceGenome:HGNC:25483
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: CATS; RCS1; FAM64A
Summary: Predicted to be involved in cell division. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in spleen (RPKM 1.3), small intestine (RPKM 0.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (6444455..6451469)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (6344181..6351199)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (6347775..6354789)

Chromosome 17 - NC_000017.11 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?

Cell Cycle-Related FAM64A Could be Activated by TGF-beta Signaling to Promote Glioma Progression.
Title: Cell Cycle-Related FAM64A Could be Activated by TGF-β Signaling to Promote Glioma Progression.
A bioinformatics analysis of the clinicopathological and prognostic significance of FAM64A mRNA expression in gynecological cancers.
Title: A bioinformatics analysis of the clinicopathological and prognostic significance of FAM64A mRNA expression in gynecological cancers.
Excessive activation of HOXB13/PIMREG axis promotes hepatocellular carcinoma progression and drug resistance.
Title: Excessive activation of HOXB13/PIMREG axis promotes hepatocellular carcinoma progression and drug resistance.
FAM64A is an androgen receptor-regulated feedback tumor promoter in prostate cancer.
Title: FAM64A is an androgen receptor-regulated feedback tumor promoter in prostate cancer.
Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes.
Title: Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes.
FAM64A: A Novel Oncogenic Target of Lung Adenocarcinoma Regulated by Both Strands of miR-99a (miR-99a-5p and miR-99a-3p).
Title: FAM64A: A Novel Oncogenic Target of Lung Adenocarcinoma Regulated by Both Strands of miR-99a (miR-99a-5p and miR-99a-3p).
High expression of FAM64A is associated with advanced clinical grade, metastasis and unfavorable prognosis in breast cancer. Over-expressing FAM64A promotes breast cancer cell proliferation and migration.
Title: Up-regulation of FAM64A promotes epithelial-to-mesenchymal transition and enhances stemness features in breast cancer cells.
FAM64A plays an important role in the proliferation and migration of breast cancer cells, which might serve as a potential target for breast cancer treatment.
Title: Knockdown of FAM64A suppresses proliferation and migration of breast cancer cells.
PIMREG promotes breast cancer aggressiveness via disrupting the NF-kappaB/IkappaBalpha negative feedback loop, which suggests that PIMREG might be a valuable prognostic factor and potential target for diagnosis and therapy of metastatic breast cancer.
Title: Overexpression of PIMREG promotes breast cancer aggressiveness via constitutive activation of NF-κB signaling.
Study provides evidence that high FAM64A mRNA expression is an independent risk factor for poor prognosis in pancreatic cancer.
Title: Aberrant FAM64A mRNA expression is an independent predictor of poor survival in pancreatic cancer.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

RH15958 (e-PCR)
- UniSTS:80507

RH104452 (e-PCR)
- UniSTS:98776

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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

Component	Evidence Code	Pubs
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: protein PIMREG

Names: CALM interacting protein expressed in thymus and spleen; CALM-interactor expressed in thymus and spleen; family with sequence similarity 64 member A; protein FAM64A; regulator of chromosome segregation 1; regulator of chromosome segregation 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_001195228.2 → NP_001182157.1 protein PIMREG isoform 2

See identical proteins and their annotated locations for NP_001182157.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant A. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC055872, BC005004

Consensus CDS

CCDS56016.1

UniProtKB/Swiss-Prot

Q96CT4, Q9BSJ6, Q9NVV1, Q9NWB5

UniProtKB/TrEMBL

A0A0S2Z5F0, I3L156

Related

ENSP00000250056.8, ENST00000250056.12

Conserved Domains (1) summary

pfam07326
Location:1 → 232

DUF1466; Protein of unknown function (DUF1466)
NM_019013.3 → NP_061886.2 protein PIMREG isoform 1

See identical proteins and their annotated locations for NP_061886.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).

Source sequence(s)

AC055872, BC013966

Consensus CDS

CCDS32541.1

UniProtKB/TrEMBL

A0A0S2Z5C7, I3L156

Related

ENSP00000459235.1, ENST00000572447.6

Conserved Domains (1) summary

pfam07326
Location:1 → 231

DUF1466; Protein of unknown function (DUF1466)