POMZP3 POM121 and ZP3 fusion [Homo sapiens (human)] - Gene

Summary

Official Symbol: POMZP3provided by HGNC
Official Full Name: POM121 and ZP3 fusionprovided by HGNC
Primary source: HGNC:HGNC:9203
See related: Ensembl:ENSG00000146707 MIM:600587; AllianceGenome:HGNC:9203
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: POM-ZP3
Summary: This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
Annotation information: Note: POM121 (Gene ID: 9883) and POMZP3 (Gene ID: 22832) share the POM121 symbol/alias in common. POM121 is sometimes used as an alternative name for POM121 and ZP3 fusion, which can be confused with the official symbol for POM121 transmembrane nucleoporin (POM121). [05 Jul 2018]
Expression: Ubiquitous expression in testis (RPKM 14.6), bone marrow (RPKM 6.9) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 7q11.23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (76609986..76627279, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (77889199..77906201, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (76239303..76256596, complement)

Chromosome 7 - NC_000007.14 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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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

ZP3A (e-PCR)
- UniSTS:58634

D7S2875 (e-PCR)
- UniSTS:50957

STS-U10099 (e-PCR)
- UniSTS:52146

STS-M60504 (e-PCR)
- UniSTS:9414

D7S2308 (e-PCR)
- UniSTS:24312

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: POM121 and ZP3 fusion protein

Names: POM (POM121 homolog, rat) and ZP3 fusion; POM (POM121 rat homolog) and ZP3 fusion; POM-ZP3 fusion protein; POM121/ZP3 fusion protein

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_012230.5 → NP_036362.3 POM121 and ZP3 fusion protein isoform 1

See identical proteins and their annotated locations for NP_036362.3

Status: REVIEWED

Description

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

Source sequence(s)

AC004980, BG461659, BI084456

Consensus CDS

CCDS43606.1

UniProtKB/Swiss-Prot

F6STJ3, Q12903, Q6PJE2, Q9BWB4

Related

ENSP00000309233.4, ENST00000310842.9

Conserved Domains (2) summary

pfam00100
Location:76 → 139

Zona_pellucida; Zona pellucida-like domain

pfam15229
Location:52 → 96

POM121; POM121 family
NM_152992.4 → NP_694537.1 POM121 and ZP3 fusion protein isoform 2

See identical proteins and their annotated locations for NP_694537.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two exons in the coding region which results in a frameshift and early stop codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC004980, BG461659, BI084456

Consensus CDS

CCDS5590.1

UniProtKB/Swiss-Prot

Q6PJE2

Related

ENSP00000275569.4, ENST00000275569.8

Conserved Domains (1) summary

pfam15229
Location:52 → 96

POM121; POM121 family