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

Gene ID: 59271, updated on 14-Nov-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, Nov 2024]
Expression
Ubiquitous expression in prostate (RPKM 3.9), gall bladder (RPKM 3.7) and 25 other tissues See more
Orthologs
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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)

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 
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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