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    ZFTRAF1 zinc finger TRAF-type containing 1 [ Homo sapiens (human) ]

    Gene ID: 50626, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZFTRAF1provided by HGNC
    Official Full Name
    zinc finger TRAF-type containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17806
    See related
    Ensembl:ENSG00000187954 MIM:616635; AllianceGenome:HGNC:17806
    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
    CHRP; CYHR1
    Summary
    Predicted to enable zinc ion binding activity. Predicted to be located in nuclear envelope. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 7.8), prostate (RPKM 4.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFTRAF1 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144449582..144462871, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145619341..145632631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145674965..145688254, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145651263-145652026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19684 Neighboring gene VPS28 subunit of ESCRT-I Neighboring gene tonsoku like, DNA repair protein Neighboring gene TONSL antisense RNA 1 Neighboring gene microRNA 6893 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145668715-145669223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19686 Neighboring gene TMEM276-ZFTRAF1 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145687825-145688502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145688503-145689180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145689275-145689888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19689 Neighboring gene microRNA 10400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19692 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145692087-145692923 Neighboring gene transmembrane protein 276 Neighboring gene kinesin family member C2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145698787-145699682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145699683-145700576 Neighboring gene forkhead box H1

    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. As a Novel Prognostic Marker, Cysteine/histidine-rich 1 (CYHR1) is a Therapeutic Target in Patients with Esophageal Squamous Cell Carcinoma. Desaki R, et al. Ann Surg Oncol, 2017 Feb. PMID 26676980
    2. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia. Asif M, et al. Genet Med, 2024 Jul. PMID 38641995
    3. Interaction of a novel cysteine and histidine-rich cytoplasmic protein with galectin-3 in a carbohydrate-independent manner. Menon RP, et al. FEBS Lett, 2000 Mar 31. PMID 10745073
    4. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. Kumar S, et al. Cell Rep, 2019 Feb 12. PMID 30759391, Free PMC Article
    5. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. Seki N, et al. DNA Res, 1997 Oct 31. PMID 9455484

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
      Title: Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
    2. High CYHR1 expression is associated with Esophageal Squamous Cell Carcinoma.
      Title: As a Novel Prognostic Marker, Cysteine/histidine-rich 1 (CYHR1) is a Therapeutic Target in Patients with Esophageal Squamous Cell Carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog

    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

    Readthrough TMEM276-ZFTRAF1

    Readthrough gene: TMEM276-ZFTRAF1, Included gene: TMEM276

    Homology

    Clone Names

    • KIAA0496, MGC13010

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger TRAF-type-containing protein 1
    Names
    Zinc finger TRAF-type-containing protein 1
    cysteine and histidine rich 1
    cysteine and histidine rich protein
    cysteine and histidine-rich protein 1
    cysteine/histidine-rich 1

    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_001330618.2 → NP_001317547.1  zinc finger TRAF-type-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC084125, BC004544, BG751889, BQ956567
      Consensus CDS
      CCDS83335.1
      UniProtKB/Swiss-Prot
      E9PJD7, P0DTL6
      Related
      ENSP00000433769.1, ENST00000530374.6
      Conserved Domains (2) summary
      cd16505
      Location:108 → 156
      RING-HC_CYHR1; RING finger, HC subclass, found in cysteine and histidine-rich protein 1 (CYHR1) and similar proteins
      cl19105
      Location:166 → 227
      Sina; Seven in absentia (Sina) protein family, C-terminal substrate binding domain; composed of the Drosophila Sina protein, the mammalian Sina homolog (Siah), the plant protein SINAT5, and similar proteins. Sina, Siah and SINAT5 are RING-containing proteins ...

    2. NM_001408047.1 → NP_001394976.1  zinc finger TRAF-type-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC084125

    3. NM_001408048.1 → NP_001394977.1  zinc finger TRAF-type-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC084125

    4. NM_001408049.1 → NP_001394978.1  zinc finger TRAF-type-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC084125

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144449582..144462871 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145619341..145632631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DTL6.1 GenPept UniProtKB/Swiss-Prot:P0DTL6

    Gene LinkOut

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

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