ZNF689 zinc finger protein 689 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZNF689provided by HGNC
Official Full Name: zinc finger protein 689provided by HGNC
Primary source: HGNC:HGNC:25173
See related: Ensembl:ENSG00000156853 MIM:618033; AllianceGenome:HGNC:25173
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: TIPUH1
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 14.6), ovary (RPKM 2.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (30602558..30610775, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30989540..30997757, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (30613879..30622096, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

ZNF689 deficiency promotes intratumor heterogeneity and immunotherapy resistance in triple-negative breast cancer.
Title: ZNF689 deficiency promotes intratumor heterogeneity and immunotherapy resistance in triple-negative breast cancer.
A 3-Gene Random Forest Model to Diagnose Non-obstructive Azoospermia Based on Transcription Factor-Related Henes.
Title: A 3-Gene Random Forest Model to Diagnose Non-obstructive Azoospermia Based on Transcription Factor-Related Henes.
The results indicate that ZNF689 blocks pro-apoptotic signaling by suppressing the Bak/Bax/Bid pathway, resulting in the progression of liver cancer and resistance to 5-FU. ZNF689 may be a promising chemotherapeutic target against liver cancer.
Title: ZNF689 suppresses apoptosis of hepatocellular carcinoma cells through the down-regulation of Bcl-2 family members.
overexpressed TIPUH1 may play a role in hepatocarcinogenesis by regulating transcription and/or RNA processing of growth control genes
Title: TIPUH1 encodes a novel KRAB zinc-finger protein highly expressed in human hepatocellular carcinomas.
TIPUH1 conferred anchorage independent growth and its knockdown in HCCs resulted in their growth inhibition. Interacts with TIF1beta, hnRNPU, hnRNPF, Nucleolin. May play a role in hepatocarcinogenesis by regulating transcription and/or RNA processing.
Title: TIPUH1 encodes a novel KRAB zinc-finger protein highly expressed in human hepatocellular carcinomas.

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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

SHGC-61056 (e-PCR)
- UniSTS:89688

D16S2667 (e-PCR)
- UniSTS:152415

RH75465 (e-PCR)
- UniSTS:92355

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger protein 689

Names: short ORF-encoded histone-binding protein; transcription-involved protein upregulated in HCC 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_138447.3 → NP_612456.1 zinc finger protein 689

See identical proteins and their annotated locations for NP_612456.1

Status: VALIDATED

Description

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

Source sequence(s)

AC093249, AL834299, BC014000, DA485303

Consensus CDS

CCDS10686.1

UniProtKB/Swiss-Prot

Q658J5, Q96CS4

Related

ENSP00000287461.3, ENST00000287461.8

Conserved Domains (3) summary

smart00349
Location:29 → 88

KRAB; krueppel associated box

COG5048
Location:159 → 466

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:263 → 283

ZF_C2H2; C2H2 Zn finger [structural motif]

RNA

NR_073480.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.

Source sequence(s)

AC093249, AK310459, AL834299, DA485303
NR_073481.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.

Source sequence(s)

AL834299, BC014000, CN406120, DA010230
NR_073482.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.

Source sequence(s)

AL834299, BC014000, DB456506
NR_104166.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.

Source sequence(s)

AC093249, AL834299, CD243730, HY005770