PRICKLE4 prickle planar cell polarity protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRICKLE4provided by HGNC
Official Full Name: prickle planar cell polarity protein 4provided by HGNC
Primary source: HGNC:HGNC:16805
See related: Ensembl:ENSG00000278224 MIM:611389; AllianceGenome:HGNC:16805
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: OBTP; OEBT; TOMM6; C6orf49
Summary: C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in spleen (RPKM 16.5), gall bladder (RPKM 14.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (41780782..41787452)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (41609340..41616014)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (41748520..41755190)

Chromosome 6 - NC_000006.12 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
molecular characterization of OEBT
Title: Characterization of OEBT, a LIM protein.

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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Markers

ECD15184 (e-PCR)
- UniSTS:296201

ECD08257 (e-PCR)
- UniSTS:289305

ECD03138 (e-PCR)
- UniSTS:284225

ECD15499 (e-PCR)
- UniSTS:296516

ECD03198 (e-PCR)
- UniSTS:284283

ECD17096 (e-PCR)
- UniSTS:298109

ECD21233 (e-PCR)
- UniSTS:302230

NoName (e-PCR)
- UniSTS:487068

ECD22028 (e-PCR)
- UniSTS:303019

REN60910 (e-PCR)
- UniSTS:385710

REN60911 (e-PCR)
- UniSTS:385711

REN60912 (e-PCR)
- UniSTS:385712

REN60913 (e-PCR)
- UniSTS:385713

REN60914 (e-PCR)
- UniSTS:385714

REN60915 (e-PCR)
- UniSTS:385715

REN60916 (e-PCR)
- UniSTS:385716

REN60917 (e-PCR)
- UniSTS:385717

REN60918 (e-PCR)
- UniSTS:385718

REN60919 (e-PCR)
- UniSTS:385719

REN60920 (e-PCR)
- UniSTS:385720

REN60921 (e-PCR)
- UniSTS:385721

REN60922 (e-PCR)
- UniSTS:385722

REN60923 (e-PCR)
- UniSTS:385723

REN60924 (e-PCR)
- UniSTS:385724

REN60925 (e-PCR)
- UniSTS:385725

REN60926 (e-PCR)
- UniSTS:385726

REN60927 (e-PCR)
- UniSTS:385727

REN60928 (e-PCR)
- UniSTS:385728

REN60929 (e-PCR)
- UniSTS:385729

REN60930 (e-PCR)
- UniSTS:385730

REN60931 (e-PCR)
- UniSTS:385731

REN60932 (e-PCR)
- UniSTS:385732

REN60933 (e-PCR)
- UniSTS:385733

REN60934 (e-PCR)
- UniSTS:385734

REN60935 (e-PCR)
- UniSTS:385735

REN60936 (e-PCR)
- UniSTS:385736

REN60937 (e-PCR)
- UniSTS:385737

REN60938 (e-PCR)
- UniSTS:385738

REN60939 (e-PCR)
- UniSTS:385739

REN60940 (e-PCR)
- UniSTS:385740

REN60941 (e-PCR)
- UniSTS:385741

REN60942 (e-PCR)
- UniSTS:385742

REN60943 (e-PCR)
- UniSTS:385743

REN60944 (e-PCR)
- UniSTS:385744

REN60945 (e-PCR)
- UniSTS:385745

REN60946 (e-PCR)
- UniSTS:385746

REN60947 (e-PCR)
- UniSTS:385747

REN60948 (e-PCR)
- UniSTS:385748

ECD02514 (e-PCR)
- UniSTS:283611

ECD24161 (e-PCR)
- UniSTS:305145

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables muscle alpha-actinin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle structure development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
part_of filamentous actin	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: prickle-like protein 4

Names: over-expressed breast tumor protein; overexpressed breast tumor protein; overexpressed breast tumour protein; prickle homolog 4; translocase of outer mitochondrial membrane 6 homolog

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_013397.6 → NP_037529.3 prickle-like protein 4

Status: VALIDATED

Source sequence(s)

AL365205

Consensus CDS

CCDS34449.1

UniProtKB/Swiss-Prot

A2A3M0, A6PVU1, B3KQ15, Q2TBC4, Q5T3D4, Q9NSV1

Related

ENSP00000404911.1, ENST00000458694.6

Conserved Domains (3) summary

cd09340
Location:124 → 181

LIM1_Testin_like; The first LIM domain of Testin-like family

cd09341
Location:187 → 242

LIM2_Testin_like; The second LIM domain of Testin-like family

cd09828
Location:1 → 116

PET_OEBT; The PET domain of overexpressed breast tumor protein (OEBT)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

41780782..41787452

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

41609340..41616014

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_017601.1: Suppressed sequence

Description

NM_017601.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.