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    EVC EvC ciliary complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 2121, updated on 27-Nov-2024

    Summary

    Official Symbol
    EVCprovided by HGNC
    Official Full Name
    EvC ciliary complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:3497
    See related
    Ensembl:ENSG00000072840 MIM:604831; AllianceGenome:HGNC:3497
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVC1; EVCL; DWF-1
    Summary
    This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in ovary (RPKM 10.7), kidney (RPKM 10.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EVC in Genome Data Viewer
    Location:
    4p16.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (5711201..5829057)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (5682855..5800650)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5712928..5816032)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5526681-5527880 Neighboring gene uncharacterized LOC124900166 Neighboring gene long intergenic non-protein coding RNA 1587 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5593995-5594527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5595317-5595818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5595819-5596318 Neighboring gene EvC ciliary complex subunit 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:5610365-5610542 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5613379-5613880 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5666069-5667268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5710226-5710845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5754671-5755626 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:5760129-5761328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5774235-5774978 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5774979-5775720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21246 Neighboring gene NANOG hESC enhancer GRCh37_chr4:5876470-5876991 Neighboring gene collapsin response mediator protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888332-5888859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5888860-5889386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5891930-5892674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5892675-5893418 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5914348-5914973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5923869-5924368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5926351-5926851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5932940-5933440 Neighboring gene chromosome 4 open reading frame 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5947182-5947682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5957977-5958528 Neighboring gene microRNA 378d-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5972715-5973525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975147-5975708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5975709-5976269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5995614-5996166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5996167-5996718 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:6050907-6052106 Neighboring gene uncharacterized LOC128125818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:6071730-6072660 Neighboring gene janus kinase and microtubule interacting protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Curry-Hall syndrome
    MedGen: C0457013 OMIM: 193530 GeneReviews: Not available
    Compare labs
    Ellis-van Creveld syndrome
    MedGen: C0013903 OMIM: 225500 GeneReviews: Ellis-van Creveld Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC105107

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endochondral bone growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in ciliary membrane TAS
    Traceable Author Statement
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    part_of plasma membrane protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    evC complex member EVC
    Names
    Ellis van Creveld protein
    Ellis van Creveld syndrome
    ellis-van Creveld syndrome protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008843.2 RefSeqGene

      Range
      5002..108106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001306090.2NP_001293019.1  evC complex member EVC isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC105915, AF216185, AF239742
      UniProtKB/TrEMBL
      Q4W5F2
    2. NM_001306092.2NP_001293021.1  evC complex member EVC isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks exons in the 3' coding region and uses an alternate 3' terminal exon compared to variant 1. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC105915, AF216185, BC085608
      Consensus CDS
      CCDS77896.1
      UniProtKB/TrEMBL
      E9PCN4, Q5U3C2
      Related
      ENSP00000426774.1, ENST00000509451.1
    3. NM_153717.3NP_714928.1  evC complex member EVC isoform 1

      See identical proteins and their annotated locations for NP_714928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC105915, AF216185
      Consensus CDS
      CCDS3383.1
      UniProtKB/Swiss-Prot
      P57679
      UniProtKB/TrEMBL
      Q4W5F2
      Related
      ENSP00000264956.6, ENST00000264956.11

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      5711201..5829057
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449774.1XP_047305730.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    2. XM_047449769.1XP_047305725.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    3. XM_047449778.1XP_047305734.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    4. XM_047449773.1XP_047305729.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    5. XM_047449786.1XP_047305742.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    6. XM_047449781.1XP_047305737.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    7. XM_047449777.1XP_047305733.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    8. XM_047449776.1XP_047305732.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    9. XM_047449780.1XP_047305736.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    10. XM_047449779.1XP_047305735.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    11. XM_047449785.1XP_047305741.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    12. XM_047449795.1XP_047305751.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    13. XM_047449775.1XP_047305731.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    14. XM_047449771.1XP_047305727.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    15. XM_047449784.1XP_047305740.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    16. XM_047449772.1XP_047305728.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    17. XM_047449787.1XP_047305743.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    18. XM_047449792.1XP_047305748.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    19. XM_047449789.1XP_047305745.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    20. XM_047449790.1XP_047305746.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    21. XM_047449798.1XP_047305754.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    22. XM_047449796.1XP_047305752.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    23. XM_047449770.1XP_047305726.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    24. XM_047449783.1XP_047305739.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    25. XM_047449782.1XP_047305738.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    26. XM_047449788.1XP_047305744.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    27. XM_047449791.1XP_047305747.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    28. XM_047449797.1XP_047305753.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    29. XM_047449793.1XP_047305749.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    30. XM_047449794.1XP_047305750.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    31. XM_047449799.1XP_047305755.1  evC complex member EVC isoform X1

      UniProtKB/Swiss-Prot
      P57679
    32. XM_047449800.1XP_047305756.1  evC complex member EVC isoform X2

    33. XM_047449801.1XP_047305757.1  evC complex member EVC isoform X2

    34. XM_047449807.1XP_047305763.1  evC complex member EVC isoform X2

    35. XM_047449804.1XP_047305760.1  evC complex member EVC isoform X2

    36. XM_047449803.1XP_047305759.1  evC complex member EVC isoform X2

    37. XM_047449802.1XP_047305758.1  evC complex member EVC isoform X2

    38. XM_047449805.1XP_047305761.1  evC complex member EVC isoform X2

    39. XM_047449806.1XP_047305762.1  evC complex member EVC isoform X2

    40. XM_047449808.1XP_047305764.1  evC complex member EVC isoform X3

    41. XM_047449809.1XP_047305765.1  evC complex member EVC isoform X4

    42. XM_011513419.3XP_011511721.1  evC complex member EVC isoform X6

      UniProtKB/TrEMBL
      Q5U3C2
    43. XM_017007883.3XP_016863372.1  evC complex member EVC isoform X7

      UniProtKB/TrEMBL
      Q5U3C2
    44. XM_047449810.1XP_047305766.1  evC complex member EVC isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      5682855..5800650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349202.1XP_054205177.1  evC complex member EVC isoform X1

    2. XM_054349197.1XP_054205172.1  evC complex member EVC isoform X1

    3. XM_054349206.1XP_054205181.1  evC complex member EVC isoform X1

    4. XM_054349201.1XP_054205176.1  evC complex member EVC isoform X1

    5. XM_054349214.1XP_054205189.1  evC complex member EVC isoform X1

    6. XM_054349209.1XP_054205184.1  evC complex member EVC isoform X1

    7. XM_054349205.1XP_054205180.1  evC complex member EVC isoform X1

    8. XM_054349204.1XP_054205179.1  evC complex member EVC isoform X1

    9. XM_054349208.1XP_054205183.1  evC complex member EVC isoform X1

    10. XM_054349207.1XP_054205182.1  evC complex member EVC isoform X1

    11. XM_054349213.1XP_054205188.1  evC complex member EVC isoform X1

    12. XM_054349223.1XP_054205198.1  evC complex member EVC isoform X1

    13. XM_054349203.1XP_054205178.1  evC complex member EVC isoform X1

    14. XM_054349199.1XP_054205174.1  evC complex member EVC isoform X1

    15. XM_054349212.1XP_054205187.1  evC complex member EVC isoform X1

    16. XM_054349200.1XP_054205175.1  evC complex member EVC isoform X1

    17. XM_054349215.1XP_054205190.1  evC complex member EVC isoform X1

    18. XM_054349220.1XP_054205195.1  evC complex member EVC isoform X1

    19. XM_054349217.1XP_054205192.1  evC complex member EVC isoform X1

    20. XM_054349218.1XP_054205193.1  evC complex member EVC isoform X1

    21. XM_054349226.1XP_054205201.1  evC complex member EVC isoform X1

    22. XM_054349224.1XP_054205199.1  evC complex member EVC isoform X1

    23. XM_054349198.1XP_054205173.1  evC complex member EVC isoform X1

    24. XM_054349211.1XP_054205186.1  evC complex member EVC isoform X1

    25. XM_054349210.1XP_054205185.1  evC complex member EVC isoform X1

    26. XM_054349216.1XP_054205191.1  evC complex member EVC isoform X1

    27. XM_054349219.1XP_054205194.1  evC complex member EVC isoform X1

    28. XM_054349225.1XP_054205200.1  evC complex member EVC isoform X1

    29. XM_054349221.1XP_054205196.1  evC complex member EVC isoform X1

    30. XM_054349222.1XP_054205197.1  evC complex member EVC isoform X1

    31. XM_054349227.1XP_054205202.1  evC complex member EVC isoform X1

    32. XM_054349228.1XP_054205203.1  evC complex member EVC isoform X2

    33. XM_054349229.1XP_054205204.1  evC complex member EVC isoform X2

    34. XM_054349235.1XP_054205210.1  evC complex member EVC isoform X2

    35. XM_054349232.1XP_054205207.1  evC complex member EVC isoform X2

    36. XM_054349231.1XP_054205206.1  evC complex member EVC isoform X2

    37. XM_054349230.1XP_054205205.1  evC complex member EVC isoform X2

    38. XM_054349233.1XP_054205208.1  evC complex member EVC isoform X2

    39. XM_054349234.1XP_054205209.1  evC complex member EVC isoform X2

    40. XM_054349236.1XP_054205211.1  evC complex member EVC isoform X3

    41. XM_054349237.1XP_054205212.1  evC complex member EVC isoform X4

    42. XM_054349239.1XP_054205214.1  evC complex member EVC isoform X6

    43. XM_054349240.1XP_054205215.1  evC complex member EVC isoform X7

    44. XM_054349238.1XP_054205213.1  evC complex member EVC isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014556.2: Suppressed sequence

      Description
      NM_014556.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.