ERVMER34-1 endogenous retrovirus group MER34 member 1, envelope [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERVMER34-1provided by HGNC
Official Full Name: endogenous retrovirus group MER34 member 1, envelopeprovided by HGNC
Primary source: HGNC:HGNC:42970
See related: Ensembl:ENSG00000226887 AllianceGenome:HGNC:42970
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: HEMO; envMER34
Summary: Predicted to be located in extracellular region and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in placenta (RPKM 6.1), kidney (RPKM 1.4) and 8 other tissues See more
Orthologs: all
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Genomic context

Location:: 4q12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (52742553..52751425, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (56229442..56238314, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (53608720..53617592, complement)

Chromosome 4 - NC_000004.12 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 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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Clone Names

FLJ12684, FLJ37999, MGC79429, MGC79431, MGC79432

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: endogenous retroviral envelope protein HEMO

Names: HERV-MER_4q12 provirus ancestral Env polyprotein; Human Endogenous MEdium-Reiteration-frequency-family-34 ORF; LP9056 protein; endogenous MER34 (medium-reiteration-frequency-family-34) ORF; endogenous retrovirus group MER34 member 1 Env polyprotein; endogenous retrovirus group MER34, member 1; human endogenous MER34 ORF

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_001242690.2 → NP_001229619.1 endogenous retroviral envelope protein HEMO precursor

See identical proteins and their annotated locations for NP_001229619.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC104066, AY189288, DA633167

UniProtKB/Swiss-Prot

B3KTB4, Q0P5R3, Q6NWN0, Q9H9K5

Related

ENSP00000460602.1, ENST00000443173.6

Conserved Domains (1) summary

cl02885
Location:401 → 463

Ebola_HIV-1-like_HR1-HR2; heptad repeat 1-heptad repeat 2 region (ectodomain) of the transmembrane subunit of various endogenous retroviruses (ERVs) and infectious retroviruses, including Ebola virus and human immunodeficiency virus type 1 (HIV-1)
NM_024534.6 → NP_078810.1 endogenous retroviral envelope protein HEMO precursor

See identical proteins and their annotated locations for NP_078810.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC104066, AY189288, BC067526, BP871936

UniProtKB/Swiss-Prot

B3KTB4, Q0P5R3, Q6NWN0, Q9H9K5

Related

ENSP00000460255.1, ENST00000440542.1

Conserved Domains (1) summary

cl02885
Location:401 → 463

Ebola_HIV-1-like_HR1-HR2; heptad repeat 1-heptad repeat 2 region (ectodomain) of the transmembrane subunit of various endogenous retroviruses (ERVs) and infectious retroviruses, including Ebola virus and human immunodeficiency virus type 1 (HIV-1)