TRAF7 TNF receptor associated factor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRAF7provided by HGNC
Official Full Name: TNF receptor associated factor 7provided by HGNC
Primary source: HGNC:HGNC:20456
See related: Ensembl:ENSG00000131653 MIM:606692; AllianceGenome:HGNC:20456
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: RFWD1; RNF119; CAFDADD
Summary: Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]
Expression: Ubiquitous expression in duodenum (RPKM 19.0), esophagus (RPKM 17.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (2155782..2178129)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2178244..2200598)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2205783..2228130)

Chromosome 16 - NC_000016.10 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
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?

Novel mosaic TRAF7 likely pathogenic variant in an African American family.
Title: Novel mosaic TRAF7 likely pathogenic variant in an African American family.
TRAF7 inhibits glycolysis to potentiate growth inhibition and apoptosis of myeloid leukemia cells via regulating the KLF2-PFKFB3 axis.
Title: TRAF7 inhibits glycolysis to potentiate growth inhibition and apoptosis of myeloid leukemia cells via regulating the KLF2-PFKFB3 axis.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Title: Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases.
Title: TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases.
Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies.
Title: Prenatal diagnosis of a germline variant in TRAF7: Importance of accessibility to prenatal exome sequencing in cases of structural fetal anomalies.
Loss-of-Function Mutations in TRAF7 and KLF4 Cooperatively Activate RAS-Like GTPase Signaling and Promote Meningioma Development.
Title: Loss-of-Function Mutations in TRAF7 and KLF4 Cooperatively Activate RAS-Like GTPase Signaling and Promote Meningioma Development.
TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma.
Title: TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma.
Long non-coding RNA NEAT1 regulates endothelial functions in subclinical hypothyroidism through miR-126/TRAF7 pathway.
Title: Long non-coding RNA NEAT1 regulates endothelial functions in subclinical hypothyroidism through miR-126/TRAF7 pathway.
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
Title: Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.
New Syndrome Associated with Germline Variants in TRAF7.
Title: New Syndrome Associated with Germline Variants in TRAF7.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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

Associated conditions

Description	Tests
Cardiac, facial, and digital anomalies with developmental delay MedGen: C4748484 OMIM: 618164 GeneReviews: Not available	Compare labs

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

SGC31214 (e-PCR)
- UniSTS:44364

SHGC-61344 (e-PCR)
- UniSTS:41562

RH93955 (e-PCR)
- UniSTS:86431

RH71168 (e-PCR)
- UniSTS:18150

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K29-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal large subunit assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase TRAF7

Names: RING finger and WD repeat-containing protein 1; RING finger protein 119; RING-type E3 ubiquitin transferase TRAF7; TNF receptor-associated factor 7, E3 ubiquitin protein ligase; ring finger and WD repeat domain 1

NP_115647.2

EC 2.3.2.27

XP_005255684.1

EC 2.3.2.27

XP_011521002.1

EC 2.3.2.27

XP_054170133.1

EC 2.3.2.27

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_032271.3 → NP_115647.2 E3 ubiquitin-protein ligase TRAF7

See identical proteins and their annotated locations for NP_115647.2

Status: VALIDATED

Source sequence(s)

AC009065, AK090624, AL136921, AW245178

Consensus CDS

CCDS10461.1

UniProtKB/Swiss-Prot

Q6Q0C0, Q9H073

UniProtKB/TrEMBL

B3KQY7

Related

ENSP00000318944.6, ENST00000326181.11

Conserved Domains (6) summary

PRK03918
Location:283 → 373

PRK03918; DNA double-strand break repair ATPase Rad50

cd00200
Location:388 → 668

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:443 → 477

7WD40; WD40 repeat [structural motif]

cd16644
Location:129 → 165

mRING-HC-C3HC3D_TRAF7; Modified RING finger, HC subclass (C3HC3D-type), found in tumor necrosis factor (TNF) receptor-associated factor 7 (TRAF7) and similar proteins

cl17044
Location:282 → 322

DD_cGKI; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I

cl19105
Location:207 → 281

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

2155782..2178129

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005255627.6 → XP_005255684.1 E3 ubiquitin-protein ligase TRAF7 isoform X1

UniProtKB/TrEMBL

B3KQY7

Conserved Domains (6) summary

cl17044
Location:280 → 320

DD_cGKI; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I

smart00184
Location:131 → 163

RING; Ring finger

COG2319
Location:378 → 666

WD40; WD40 repeat [General function prediction only]

cd00200
Location:386 → 666

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:441 → 475

7WD40; WD40 repeat [structural motif]

cl19105
Location:207 → 278

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 ...
XM_011522700.2 → XP_011521002.1 E3 ubiquitin-protein ligase TRAF7 isoform X2

See identical proteins and their annotated locations for XP_011521002.1

UniProtKB/TrEMBL

B3KQY7

Related

ENSP00000515904.1, ENST00000704453.1

Conserved Domains (6) summary

cl17044
Location:253 → 293

DD_cGKI; Dimerization/Docking domain of Cyclic GMP-dependent Protein Kinase I

smart00184
Location:102 → 134

RING; Ring finger

COG2319
Location:351 → 639

WD40; WD40 repeat [General function prediction only]

cd00200
Location:359 → 639

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:414 → 448

7WD40; WD40 repeat [structural motif]

cl19105
Location:178 → 251

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 ...

RNA

XR_007064922.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

2178244..2200598

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314158.1 → XP_054170133.1 E3 ubiquitin-protein ligase TRAF7 isoform X1

RNA

XR_008484742.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_206835.1: Suppressed sequence

Description

NM_206835.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.