RASSF7 Ras association domain family member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RASSF7provided by HGNC
Official Full Name: Ras association domain family member 7provided by HGNC
Primary source: HGNC:HGNC:1166
See related: Ensembl:ENSG00000099849 MIM:143023; AllianceGenome:HGNC:1166
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: HRC1; FAP88; HRAS1; CFAP88; C11orf13
Summary: Predicted to be involved in apoptotic process; regulation of microtubule cytoskeleton organization; and signal transduction. Located in centriolar satellite. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in stomach (RPKM 14.8), colon (RPKM 12.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (560970..564025)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (607974..611029)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (560970..564025)

Chromosome 11 - NC_000011.10 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?

RASSF7 competed with MAX in the formation of a heterodimeric complex with c-Myc and attenuated its occupancy on target gene promoters to regulate transcription.
Title: The non-enzymatic RAS effector RASSF7 inhibits oncogenic c-Myc function.
RASSF7 promotes cell proliferation through activating MEK1/MEK2-ERK1/ERK2 signaling pathway in hepatocellular carcinoma.
Title: RASSF7 promotes cell proliferation through activating MEK1/2-ERK1/2 signaling pathway in hepatocellular carcinoma.
Suggest that loss of RASSF7 expression results in apoptosis in nucleus pulposus cells in human intervertebral disc degeneration.
Title: RASSF7 expression and its regulatory roles on apoptosis in human intervertebral disc degeneration.
truncated RASSF7 could act as an oncogene in a small subset of tumours where it is mutated in this way.
Title: Truncated RASSF7 promotes centrosomal defects and cell death.
The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma.
Title: The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma.
RASSF7 acts in concert with N-Ras to constitute a stress-sensitive temporary mechanism of apoptotic regulation.
Title: RASSF7 negatively regulates pro-apoptotic JNK signaling by inhibiting the activity of phosphorylated-MKK7.
RASSF7 regulates the microtubule cytoskeleton and is required for spindle formation, Aurora B activation and chromosomal congression during mitosis.
Title: Human RASSF7 regulates the microtubule cytoskeleton and is required for spindle formation, Aurora B activation and chromosomal congression during mitosis.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Human longevity and 11p15.5: a study in 1321 centenarians.
"rare" alleles of HRas1 minisatellite are associated with increased risk of papillary thyroid cancer formation in children and adolescents after Chernobyl accident
Title: [Study of HRas1 minisatellite frequencies in children with thyroid papillary cancer].

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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

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

NoName (e-PCR)
- UniSTS:489747

STS-M91083 (e-PCR)
- UniSTS:38240

STS-M91083 (e-PCR)
- UniSTS:36055

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras association domain-containing protein 7

Names: HRAS1-related cluster protein 1; HRAS1-related cluster-1; Ras association (RalGDS/AF-6) domain family (N-terminal) member 7; Ras association (RalGDS/AF-6) domain family 7

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_001143993.2 → NP_001137465.1 ras association domain-containing protein 7 isoform 2

See identical proteins and their annotated locations for NP_001137465.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the 5' UTR and 3' coding region, compared to variant 1. These differences result in a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AL535761, AP006284, BC106921, CA315057

Consensus CDS

CCDS44506.1

UniProtKB/TrEMBL

A0A0G2JLR5

Related

ENSP00000380712.3, ENST00000397582.7

Conserved Domains (1) summary

smart00314
Location:8 → 88

RA; Ras association (RalGDS/AF-6) domain
NM_001143994.2 → NP_001137466.1 ras association domain-containing protein 7 isoform 3

See identical proteins and their annotated locations for NP_001137466.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the 3' coding region, compared to variant 1. This difference results in a frameshift and a protein (isoform 3) with a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AP006284, BC106921, BC106922, CA315057

Consensus CDS

CCDS44505.1

UniProtKB/TrEMBL

A0A0G2JLR5

Related

ENSP00000405606.2, ENST00000454668.2

Conserved Domains (1) summary

smart00314
Location:8 → 88

RA; Ras association (RalGDS/AF-6) domain
NM_003475.4 → NP_003466.1 ras association domain-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_003466.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AP006284, BC106921, CA315057

Consensus CDS

CCDS7702.1

UniProtKB/Swiss-Prot

G5E9N9, Q02833, Q3KP41, Q3KP42

UniProtKB/TrEMBL

A0A0G2JMW4

Related

ENSP00000380713.3, ENST00000397583.8

Conserved Domains (3) summary

pfam00788
Location:8 → 86

RA; Ras association (RalGDS/AF-6) domain

cl25363
Location:123 → 199

VirB10_like; VirB10 and similar proteins form part of core complex in Type IV secretion system (T4SS)

cl25732
Location:177 → 294

SMC_N; RecF/RecN/SMC N terminal domain