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    EVA1C eva-1 homolog C [ Homo sapiens (human) ]

    Gene ID: 59271, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EVA1Cprovided by HGNC
    Official Full Name
    eva-1 homolog Cprovided by HGNC
    Primary source
    HGNC:HGNC:13239
    See related
    Ensembl:ENSG00000166979 AllianceGenome:HGNC:13239
    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
    B18; B19; SUE21; PRED34; FAM176C; C21orf63; C21orf64
    Summary
    Enables heparin binding activity. Located in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 3.9), gall bladder (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EVA1C in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (32411723..32515387)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (30781530..30885679)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (33784031..33887697)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene URB1 ribosome biogenesis homolog Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33754437-33755636 Neighboring gene H3K27ac hESC enhancers GRCh37_chr21:33764587-33765369 and GRCh37_chr21:33765370-33766151 Neighboring gene small nucleolar RNA, H/ACA box 80A Neighboring gene URB1 antisense RNA 1 (head to head) Neighboring gene histone demethylase UTY-like Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:33835794-33836993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33863242-33863751 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:33865612-33866201 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:33867056-33868255 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:33870192-33870360 Neighboring gene exosome component 3 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:33891510-33891675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33905149-33905650 Neighboring gene CFAP298-TCP10L readthrough Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:33933639-33934430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:33934431-33935222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33941277-33941820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33941821-33942362 Neighboring gene RNA, 5S ribosomal pseudogene 490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:33956090-33956590 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:33957672-33957871 Neighboring gene t-complex 10 like

    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. EVA1C Is a Potential Prognostic Biomarker and Correlated With Immune Infiltration Levels in WHO Grade II/III Glioma. Hu Z, et al. Front Immunol, 2021. PMID 34267752, Free PMC Article
    2. Human C21orf63 is a heparin-binding protein. Mitsunaga K, et al. J Biochem, 2009 Sep. PMID 19470522
    3. The expression pattern of EVA1C, a novel Slit receptor, is consistent with an axon guidance role in the mouse nervous system. James G, et al. PLoS One, 2013. PMID 24040182, Free PMC Article
    4. RBBP6 interacts with multifunctional protein YB-1 through its RING finger domain, leading to ubiquitination and proteosomal degradation of YB-1. Chibi M, et al. J Mol Biol, 2008 Dec 26. PMID 18851979
    5. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. Reymond A, et al. Genomics, 2001 Nov. PMID 11707072

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EVA1C Is a Potential Prognostic Biomarker and Correlated With Immune Infiltration Levels in WHO Grade II/III Glioma.
      Title: EVA1C Is a Potential Prognostic Biomarker and Correlated With Immune Infiltration Levels in WHO Grade II/III Glioma.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. C21orf63 is a heparin-binding protein; in glycan microassay, the product of C21orf63 binds with heparin and heparan sulfate; real-time polymerase chain reaction and tissue immunostaining imply that C21orf63 is expressed on epithelia of various tissues
      Title: Human C21orf63 is a heparin-binding protein.
    4. validated occurrence of an unusual TG 3' splice site in intron 3
      Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein eva-1 homolog C
    Names
    family with sequence similarity 176, member C
    protein FAM176C

    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_001286556.2 → NP_001273485.1  protein eva-1 homolog C isoform 2 precursor

      See identical proteins and their annotated locations for NP_001273485.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame donor splice site in the 3' coding region compared to variant 1. The resulting shorter isoform (2) lacks a 3 aa segment compared to isoform 1.
      Source sequence(s)
      AY358787, BC038710, BU175692
      Consensus CDS
      CCDS68186.1
      UniProtKB/TrEMBL
      B5MC74
      Related
      ENSP00000372146.3, ENST00000382699.7
      Conserved Domains (2) summary
      pfam02140
      Location:75 → 158
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:298 → 438
      FAM176; FAM176 family

    2. NM_001320744.2 → NP_001307673.1  protein eva-1 homolog C isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate, in-frame exons in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AP000269, AP000270, AP000271, AP000272
      Conserved Domains (2) summary
      pfam02140
      Location:69 → 152
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:194 → 334
      FAM176; FAM176 family

    3. NM_001320745.2 → NP_001307674.1  protein eva-1 homolog C isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' -terminal exon, which results in a different 5' UTR and use of a downstream start AUG compared to variant 1. It encodes isoform 4, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AP000269, AW957938, BM836911, CA412371
      UniProtKB/TrEMBL
      B3KWG0
      Conserved Domains (2) summary
      pfam02140
      Location:81 → 164
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:206 → 346
      FAM176; FAM176 family

    4. NM_058187.5 → NP_478067.2  protein eva-1 homolog C isoform 1 precursor

      See identical proteins and their annotated locations for NP_478067.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY358787, BC038710, BU175692
      Consensus CDS
      CCDS13614.1
      UniProtKB/Swiss-Prot
      A6ND58, P58658, Q8IXZ0
      UniProtKB/TrEMBL
      B5MC74
      Related
      ENSP00000300255.2, ENST00000300255.7
      Conserved Domains (2) summary
      pfam02140
      Location:75 → 158
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:301 → 441
      FAM176; FAM176 family

    RNA

    1. NR_104472.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY040087, AY358787, BC038710, BU175692
      Related
      ENST00000437338.5

    2. NR_135467.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site at an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP000269, AP000272, BM836911, BX342316, CA412371

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      32411723..32515387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028420.2 → XP_016883909.1  protein eva-1 homolog C isoform X6

      UniProtKB/TrEMBL
      B3KWG0
      Conserved Domains (2) summary
      pfam02140
      Location:81 → 164
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:206 → 346
      FAM176; FAM176 family

    2. XM_017028419.2 → XP_016883908.1  protein eva-1 homolog C isoform X4

      UniProtKB/TrEMBL
      B5MC74

    3. XM_005261019.5 → XP_005261076.1  protein eva-1 homolog C isoform X5

      Conserved Domains (2) summary
      pfam02140
      Location:75 → 158
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:254 → 384
      FAM176; FAM176 family

    4. XM_006724038.4 → XP_006724101.1  protein eva-1 homolog C isoform X2

      UniProtKB/TrEMBL
      B5MC74
      Conserved Domains (2) summary
      pfam02140
      Location:75 → 158
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:300 → 440
      FAM176; FAM176 family

    5. XM_017028418.2 → XP_016883907.1  protein eva-1 homolog C isoform X1

      UniProtKB/TrEMBL
      B5MC74

    6. XM_047440933.1 → XP_047296889.1  protein eva-1 homolog C isoform X3

    7. XM_017028422.2 → XP_016883911.1  protein eva-1 homolog C isoform X7

    8. XM_017028423.2 → XP_016883912.1  protein eva-1 homolog C isoform X8

    9. XM_047440934.1 → XP_047296890.1  protein eva-1 homolog C isoform X9

    10. XM_011529669.4 → XP_011527971.1  protein eva-1 homolog C isoform X6

      See identical proteins and their annotated locations for XP_011527971.1

      UniProtKB/TrEMBL
      B3KWG0
      Conserved Domains (2) summary
      pfam02140
      Location:81 → 164
      Gal_Lectin; Galactose binding lectin domain
      pfam14851
      Location:206 → 346
      FAM176; FAM176 family

    RNA

    1. XR_001754885.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      30781530..30885679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324734.1 → XP_054180709.1  protein eva-1 homolog C isoform X6

      UniProtKB/TrEMBL
      B3KWG0

    2. XM_054324730.1 → XP_054180705.1  protein eva-1 homolog C isoform X4

    3. XM_054324731.1 → XP_054180706.1  protein eva-1 homolog C isoform X5

    4. XM_054324728.1 → XP_054180703.1  protein eva-1 homolog C isoform X2

    5. XM_054324727.1 → XP_054180702.1  protein eva-1 homolog C isoform X1

    6. XM_054324729.1 → XP_054180704.1  protein eva-1 homolog C isoform X3

    7. XM_054324735.1 → XP_054180710.1  protein eva-1 homolog C isoform X7

    8. XM_054324736.1 → XP_054180711.1  protein eva-1 homolog C isoform X8

    9. XM_054324733.1 → XP_054180708.1  protein eva-1 homolog C isoform X6

      UniProtKB/TrEMBL
      B3KWG0

    10. XM_054324732.1 → XP_054180707.1  protein eva-1 homolog C isoform X6

      UniProtKB/TrEMBL
      B3KWG0

    RNA

    1. XR_008485342.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58658.1 GenPept UniProtKB/Swiss-Prot:P58658

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