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ERICH6 glutamate rich 6 [ Homo sapiens (human) ]

Gene ID: 131831, updated on 5-Mar-2024

Summary

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Official Symbol
ERICH6provided by HGNC
Official Full Name
glutamate rich 6provided by HGNC
Primary source
HGNC:HGNC:28602
See related
Ensembl:ENSG00000163645 AllianceGenome:HGNC:28602
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
C3orf44; ERICH6A; FAM194A
Expression
Restricted expression toward testis (RPKM 13.0) See more
Orthologs
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Genomic context

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See ERICH6 in Genome Data Viewer
Location:
3q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (150659885..150703920, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153411110..153455167, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150377672..150421707, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900547 Neighboring gene eukaryotic translation initiation factor 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150321219-150321992 Neighboring gene selenoprotein T Neighboring gene SAP30 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20696 Neighboring gene ERICH6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150442941-150443442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150443443-150443942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150445187-150445686 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4443 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 3 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4444 Neighboring gene uncharacterized LOC101928105

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Proteomic and Interactome Approaches Reveal PAK4, PHB-2, and 14-3-3η as Targets of Overactivated Cdc42 in Cellular Responses to Genomic Instability. Silva LE, et al. J Proteome Res, 2019 Oct 4. PMID 31478661
  2. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC39662

General protein information

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Preferred Names
glutamate-rich protein 6
Names
family with sequence similarity 194, member A
glutamate-rich 6A
protein FAM194A

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)

  1. NM_001308234.2 → NP_001295163.1  glutamate-rich protein 6 isoform 2

    See identical proteins and their annotated locations for NP_001295163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (2) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC011317, BC029577
    Consensus CDS
    CCDS77840.1
    UniProtKB/Swiss-Prot
    Q7L0X2
    Related
    ENSP00000419366.1, ENST00000491361.5
    Conserved Domains (1) summary
    pfam14977
    Location:276 → 473
    FAM194; FAM194 protein

  2. NM_152394.5 → NP_689607.2  glutamate-rich protein 6 isoform 1

    See identical proteins and their annotated locations for NP_689607.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC029577, BC036239, DB058602
    Consensus CDS
    CCDS3151.2
    UniProtKB/Swiss-Prot
    Q7L0X2, Q8N9Y8, Q8NCQ6, Q8NCZ6
    Related
    ENSP00000295910.6, ENST00000295910.11
    Conserved Domains (1) summary
    pfam14977
    Location:422 → 619
    FAM194; FAM194 protein

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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    150659885..150703920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247120.4 → XP_005247177.1  glutamate-rich protein 6 isoform X1

    Conserved Domains (1) summary
    pfam14977
    Location:422 → 499
    FAM194; FAM194 protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    153411110..153455167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345232.1 → XP_054201207.1  glutamate-rich protein 6 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L0X2.1 GenPept UniProtKB/Swiss-Prot:Q7L0X2

Gene LinkOut

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