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FLASH GENE

Symbol

POGZ

contributors: mct - updated : 14-10-2015

HGNC name	pogo transposable element with ZNF domain
HGNC id	18801

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRD37 mental retardation, autosomal dominant 37
Location	1q21.3      Physical location : 151.375.199 - 151.431.941
Synonym name	suppressor of hairy wing homolog 5 (Drosophila)
	zinc finger protein 280E
	putative protein product of Nbla00003
Synonym symbol(s)	KIAA0461, Nbla00003, KIAA0461, MGC71543, SUHW5, ZNF635m, ZNF280E

DNA

TYPE	functioning gene
STRUCTURE	56.74 kb     19 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

status

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001194938 18 - 6450 NP_001181867 - 1348 - 2016 26942287 NM_015100 19 - 6618 NP_055915 155.3 1410 . does not appear to be constitutively expressed 2016 26942287 isoform 1 NM_207171 18 - 6459 NP_997054 150.1 1357 highly expressed across the majority of tissues, and significantly increased expression in the cerebellum and the pituitary gland 2016 26942287 isoform 2 NM_145796 7 - 2239 NP_665739 37.9 363 highly expressed across the majority of tissues, and significantly increased expression in the cerebellum and the pituitary gland 2016 26942287 isoform 3 NM_001194937 19 - 6609 NP_001181866 - 1401 - 2016 26942287

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Homo sapiens Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune lymph node       highly Nervous brain         Homo sapiens Fetal   brain hindbrain cerebellum   highly Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a transposase domain at the C-terminus
	9 C2H2-type zinc fingers
	a zinc-finger-like motif, CBX5-binding domain, essential for normal mitotic progression and dissociation of CBX5 from mitotic chromosome arms, HP1-binding zinc-finger-like motif (amino acids 791–850) thought to be integral for the binding of POGZ to heterochromatin protein 1 (CBX5, or HP1) for proper mitotic progression
	a CENPB-type DNA-binding domain
	five functional domains
	a centromere protein (CENP) B-like DNA-binding domain,
	a DDE domain that might regulate gene expression

mono polymer

complex

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	having a nucleic acid binding function
	required for the correct activation and dissociation of Aurora B kinase (AURKB) from chromosome arms during M phase
	is involved in mitosis and the regulation of neuronal proliferation
	essential protein that links CBX5 dissociation with Aurora B kinase activation during mitosis
	have an important function in mitotic progression
	heterochromatin protein 1 alpha-binding protein, that is likely a risk gene for neurodevelopmental disorders

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interact with the transcription factor SP1
	interaction between the C terminus of PSIP1 and the DDE domain of POGZ, revealing an overlap in the binding of POGZ and HIV-1 integrase
	bind to CBX5 through zinc-finger-like motif (interaction of POGZ with CBX5 may regulate Aurora B activation and a variety of downstream mitotic events)
	POGZ is an essential protein that links CBX5 dissociation with AURKB activation during mitosis
	PSIP1 interactions with transcriptional repressor CDCA7L and domesticated transposase POGZ, and the POGZ interaction is nearly identical to the interaction of PSIP1 with KMT2A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRD37

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function likely causative of ASD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS