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

Summary

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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 EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65304 (e-PCR)
- UniSTS:44815

D8S2279 (e-PCR)
- UniSTS:473907

RH65026 (e-PCR)
- UniSTS:87617

Readthrough TMEM276-ZFTRAF1

Readthrough gene: TMEM276-ZFTRAF1, Included gene: TMEM276

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)

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

Status: VALIDATED

Source sequence(s)

AC084125
NM_001408048.1 → NP_001394977.1 zinc finger TRAF-type-containing protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC084125
NM_001408049.1 → NP_001394978.1 zinc finger TRAF-type-containing protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC084125