ENO4 enolase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ENO4provided by HGNC
Official Full Name: enolase 4provided by HGNC
Primary source: HGNC:HGNC:31670
See related: Ensembl:ENSG00000188316 MIM:131375; AllianceGenome:HGNC:31670
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: ENOS; C10orf134
Summary: Predicted to enable phosphopyruvate hydratase activity. Predicted to be involved in glycolytic process and regulation of vacuole fusion, non-autophagic. Predicted to act upstream of or within cilium organization and flagellated sperm motility. Predicted to be located in sperm principal piece. Predicted to be part of phosphopyruvate hydratase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (116849499..116912375)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (117743799..117806708)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (118609010..118642112)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility.
Title: A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility.
A novel association with advanced primary open-angle glaucoma (POAG) in the EN04 locus was identified putatively in persons of AD. In addition to this finding, this genome-wide association study in POAG patients of AD contributes to POAG genetics by identification of novel signals in prior loci (9p21)
Title: Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.

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

D10S531 (e-PCR), detects polymorphism
- UniSTS:11278

D10S545 (e-PCR), detects polymorphism
- UniSTS:83473

D10S531 (e-PCR), detects polymorphism
- UniSTS:74272

D10S2449 (e-PCR)
- UniSTS:474445

SHGC-37154 (e-PCR)
- UniSTS:12117

ha3312 (e-PCR)
- UniSTS:515678

RH78967 (e-PCR)
- UniSTS:59779

D10S1657 (e-PCR), detects polymorphism
- UniSTS:44772

STS-R48273 (e-PCR)
- UniSTS:78313

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables phosphopyruvate hydratase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
part_of phosphopyruvate hydratase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: enolase 4

Names: 2-phospho-D-glycerate hydro-lyase; enolase family member 4; enolase-like protein ENO4

NP_001229628.1

EC 4.2.1.11

XP_005269872.1

EC 4.2.1.11

XP_006717898.1

EC 4.2.1.11

XP_011538099.1

EC 4.2.1.11

XP_047281184.1

EC 4.2.1.11

XP_054221872.1

EC 4.2.1.11

XP_054221873.1

EC 4.2.1.11

XP_054221874.1

EC 4.2.1.11

XP_054221875.1

EC 4.2.1.11

XP_054221876.1

EC 4.2.1.11

XP_054221877.1

EC 4.2.1.11

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_001242699.2 → NP_001229628.1 enolase 4

Status: VALIDATED

Source sequence(s)

AC023283

Consensus CDS

CCDS73206.1

UniProtKB/Swiss-Prot

A0A087WZY6, A6NI74, A6NNW6, B8ZZN9, J3KNX1

UniProtKB/TrEMBL

A0A5H1ZRS3

Related

ENSP00000345555.6, ENST00000341276.11

Conserved Domains (2) summary

COG0148
Location:66 → 568

Eno; Enolase [Carbohydrate transport and metabolism]

cd22974
Location:14 → 78

DD_ENO4; dimerization/docking (D/D) domain found in enolase 4 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

116849499..116912375

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006717835.4 → XP_006717898.1 enolase 4 isoform X1

UniProtKB/TrEMBL

A0A5H1ZRS3

Conserved Domains (2) summary

TIGR01060
Location:68 → 568

eno; phosphopyruvate hydratase

cl21457
Location:70 → 567

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
XM_011539797.4 → XP_011538099.1 enolase 4 isoform X2

UniProtKB/TrEMBL

A0A5H1ZRS3

Conserved Domains (2) summary

TIGR01060
Location:68 → 526

eno; phosphopyruvate hydratase

cl21457
Location:70 → 525

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
XM_047425228.1 → XP_047281184.1 enolase 4 isoform X3
XM_005269815.4 → XP_005269872.1 enolase 4 isoform X4

Conserved Domains (1) summary

cl21457
Location:70 → 404

TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...