POTEKP POTE ankyrin domain family member K, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: POTEKPprovided by HGNC
Official Full Name: POTE ankyrin domain family member K, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:30182
See related: MIM:611266; AllianceGenome:HGNC:30182
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACT; POTEK; ACTBL3; POTE2delta
Summary: Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward testis (RPKM 4.4) See more
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Genomic context

Location:: 2q21.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (131592042..131626429)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (132026723..132061081)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (132349615..132384002)

Chromosome 2 - NC_000002.12 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?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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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

PMC85361P1 (e-PCR)
- UniSTS:273471

PMC350549P3 (e-PCR)
- UniSTS:273239

PMC23952P1 (e-PCR)
- UniSTS:272216

PMC109445P1 (e-PCR)
- UniSTS:270169

ACTB-L (e-PCR)
- UniSTS:261993

PMC356969P12 (e-PCR)
- UniSTS:273274

PMC209527P1 (e-PCR)
- UniSTS:271999

LOC345651 (e-PCR)
- UniSTS:265879

PMC37512P3 (e-PCR)
- UniSTS:273307

PMC305683P4 (e-PCR)
- UniSTS:272560

PMC97568P1 (e-PCR)
- UniSTS:273653

PMC22644P1 (e-PCR)
- UniSTS:272120

Other Names

actin, beta-like 3
actin-like protein
beta-actin-like protein 3
kappa-actin

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of postsynaptic actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in postsynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NuA4 histone acetyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

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.