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

Gene ID: 50626, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 7.8), prostate (RPKM 4.8) and 25 other tissues See more
Orthologs
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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 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)

Genotypes

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 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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