REP15 RAB15 effector protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: REP15provided by HGNC
Official Full Name: RAB15 effector proteinprovided by HGNC
Primary source: HGNC:HGNC:33748
See related: Ensembl:ENSG00000174236 MIM:610848; AllianceGenome:HGNC:33748
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: RAB15EP
Summary: The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 12p11.22

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (27696447..27697596)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (27568182..27569331)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (27849380..27850529)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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 receptor recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transferrin transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transferrin transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: rab15 effector protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001029874.3 → NP_001025045.3 rab15 effector protein

Status: REVIEWED

Source sequence(s)

AC009509

Consensus CDS

CCDS31762.1

UniProtKB/Swiss-Prot

B2RU16, Q6BDI9

Related

ENSP00000310335.2, ENST00000310791.4

Conserved Domains (1) summary

pfam15208
Location:1 → 236

Rab15_effector; Rab15 effector