ATMIN ATM interactor [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATMINprovided by HGNC
Official Full Name: ATM interactorprovided by HGNC
Primary source: HGNC:HGNC:29034
See related: Ensembl:ENSG00000166454 MIM:614693; AllianceGenome:HGNC:29034
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: ASCIZ; ZNF822
Summary: Enables dynein complex binding activity. Involved in positive regulation of transcription, DNA-templated. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 24.3), brain (RPKM 16.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (81035842..81047350)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (87097372..87108882)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (81069447..81080955)

Chromosome 16 - NC_000016.10 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?

Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma.
Title: Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma.
MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression.
Title: MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression.
ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.
Title: ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.
ATMIN is located close to FRA16D and is commonly lost in lung adenocarcinoma (LUAD)and was associated with reduced patient survival. ATMIN is a tumor suppressor in LUAD; fragility at chr16q23 correlates with loss of ATMIN in human LUAD.
Title: ATMIN Is a Tumor Suppressor Gene in Lung Adenocarcinoma.
PPARgamma promotes ATM signaling and is essential for UBR5 activity targeting ATM interactor (ATMIN).
Title: PPARγ Interaction with UBR5/ATMIN Promotes DNA Repair to Maintain Endothelial Homeostasis.
This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1.
Title: Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine
Title: Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression.
ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN.
Title: ASCIZ/ATMIN is dispensable for ATM signaling in response to replication stress.
WRNIP1 connects PCNA monoubiquitination with ATMIN/ATM to activate ATM signalling in response to replication stress and contribute to the maintenance of genomic stability.
Title: RAD18, WRNIP1 and ATMIN promote ATM signalling in response to replication stress.
Studies suggest that ATM INteractor (ATMIN) could be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression.
Title: Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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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Replication interactions

Interaction	Pubs
Knockdown of ATM interactor (ATMIN) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	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

RH66612 (e-PCR)
- UniSTS:5

RH70761 (e-PCR)
- UniSTS:40236

D16S2944 (e-PCR)
- UniSTS:82021

G42176 (e-PCR)
- UniSTS:105094

SGC32359 (e-PCR)
- UniSTS:65692

D9S1775 (e-PCR)
- UniSTS:154283

RH65177 (e-PCR)
- UniSTS:85990

Clone Names

FLJ50270, FLJ61620, FLJ76795, KIAA0431, DKFZp779K1455

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables dynein complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear body	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATM interactor

Names: ATM INteracting protein; ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein; ATM/ATR-substrate CHEK2-interacting zinc finger protein; ATM/ATR-substrate CHK2-interacting zinc finger protein; zinc finger protein 822

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_001300728.2 → NP_001287657.1 ATM interactor isoform 2

See identical proteins and their annotated locations for NP_001287657.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC092718

Consensus CDS

CCDS73917.1

UniProtKB/TrEMBL

B7Z7B6

Related

ENSP00000463478.1, ENST00000564241.5
NM_015251.3 → NP_056066.2 ATM interactor isoform 1

See identical proteins and their annotated locations for NP_056066.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AB007891, AC092718, BC002701, BI259534, BM693775, BX343387, BX375235, CF593326

Consensus CDS

CCDS32494.1

UniProtKB/Swiss-Prot

A8K4H8, O43313, Q68DC9

Related

ENSP00000299575.3, ENST00000299575.5

Conserved Domains (1) summary

sd00017
Location:133 → 160

ZF_C2H2; C2H2 Zn finger [structural motif]