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    EVA1B eva-1 homolog B [ Homo sapiens (human) ]

    Gene ID: 55194, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EVA1Bprovided by HGNC
    Official Full Name
    eva-1 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:25558
    See related
    Ensembl:ENSG00000142694 AllianceGenome:HGNC:25558
    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
    C1orf78; FAM176B
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 6.9), fat (RPKM 6.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EVA1B in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36322030..36324154, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36184903..36187027, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36787631..36789755, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 131, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36680691-36680811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36689434-36689961 Neighboring gene thyroid hormone receptor associated protein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36689962-36690490 Neighboring gene Sharpr-MPRA regulatory regions 10257 and 14041 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 659 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36726300-36726456 Neighboring gene Sharpr-MPRA regulatory region 2392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36772217-36773017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36786744-36787628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36788515-36789399 Neighboring gene SH3 domain containing 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36823274-36823774 Neighboring gene serine/threonine kinase 40 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36834695-36835363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36835364-36836031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36837681-36838244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36838245-36838808 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:36839045-36840244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36844393-36844892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 668 Neighboring gene uncharacterized LOC124904012 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:36851839-36853038

    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 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. EVA1B to Evaluate the Tumor Immune Microenvironment and Clinical Prognosis in Glioma. Qu S, et al. Front Immunol, 2021. PMID 33889156, Free PMC Article
    2. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    3. A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins. May DG, et al. Viruses, 2022 Mar 15. PMID 35337019, Free PMC Article
    4. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. Moutaoufik MT, et al. iScience, 2019 Sep 27. PMID 31536960, Free PMC Article
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EVA1B to Evaluate the Tumor Immune Microenvironment and Clinical Prognosis in Glioma.
      Title: EVA1B to Evaluate the Tumor Immune Microenvironment and Clinical Prognosis in Glioma.
    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

    • FLJ10647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein eva-1 homolog B
    Names
    family with sequence similarity 176, member B
    protein FAM176B

    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_001304762.2 → NP_001291691.1  protein eva-1 homolog B

      See identical proteins and their annotated locations for NP_001291691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL591845, BC006241, BI193341, BU625845
      Consensus CDS
      CCDS406.1
      UniProtKB/Swiss-Prot
      D3DPS7, Q9NVM1
      Related
      ENSP00000507013.1, ENST00000490466.2
      Conserved Domains (1) summary
      pfam14851
      Location:7 → 151
      FAM176; FAM176 family

    2. NM_018166.3 → NP_060636.1  protein eva-1 homolog B

      See identical proteins and their annotated locations for NP_060636.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK001509, AL591845, BC006241, BU625845
      Consensus CDS
      CCDS406.1
      UniProtKB/Swiss-Prot
      D3DPS7, Q9NVM1
      Related
      ENSP00000270824.1, ENST00000270824.1
      Conserved Domains (1) summary
      pfam14851
      Location:7 → 151
      FAM176; FAM176 family

    RNA

    1. NR_130899.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AI829867, AL591845, BC006241, BI193341, BU625845

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      36322030..36324154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      36184903..36187027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVM1.1 GenPept UniProtKB/Swiss-Prot:Q9NVM1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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