RASSF9 Ras association domain family member 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RASSF9provided by HGNC
Official Full Name: Ras association domain family member 9provided by HGNC
Primary source: HGNC:HGNC:15739
See related: Ensembl:ENSG00000198774 MIM:610383; AllianceGenome:HGNC:15739
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAMCI; PCIP1; P-CIP1
Summary: The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lung (RPKM 3.5), esophagus (RPKM 3.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (85800703..85836409, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (85781370..85817046, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (86194481..86230187, complement)

Chromosome 12 - NC_000012.12 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?

RASSF effectors couple diverse RAS subfamily GTPases to the Hippo pathway.
Title: RASSF effectors couple diverse RAS subfamily GTPases to the Hippo pathway.
RASSF9 is a direct target of miR-1254 in breast cancer.
Title: MicroRNA-1254 exerts oncogenic effects by directly targeting RASSF9 in human breast cancer.
Our analysis revealed 10 sun-exposure-dependent gene expression quantitative trait loci (se-eQTLs), including genes involved in skin pigmentation (SLC45A2) and epidermal differentiation (RASSF9).
Title: Local Adaptation of Sun-Exposure-Dependent Gene Expression Regulation in Human Skin.

Submit: New GeneRIF Correction

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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies RASSF9, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G17641 (e-PCR)
- UniSTS:1633

PAMCI__5820 (e-PCR)
- UniSTS:463769

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 endosomal transport	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in trans-Golgi network transport vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network transport vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ras association domain-containing protein 9

Names: PAM COOH-terminal interactor protein 1; Ras association (RalGDS/AF-6) domain family (N-terminal) member 9; peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor protein-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.