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REEP6 - receptor accessory protein 6 Gene

Also Known as RP77; DP1L1; TB2L1; Yip2f; REEP6.1; REEP6.2; C19orf32

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92840

About REEP6

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,491,181-1,497,927 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 114.3), duodenum (RPKM 92.1) and 6 other tissues.

Summary

The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]

REEP6 Products (2)

mRNA	Protein	Name
NM_001329556.3	NP_001316485.1	receptor expression-enhancing protein 6 isoform 1
NM_138393.4	NP_612402.1	receptor expression-enhancing protein 6 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in detection of light stimulus involved in visual perception	IMP IMP: Inferred from mutant phenotype	27889058	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	27889058	GOA
located in photoreceptor inner segment	IDA IDA: Inferred from direct assay	27889058	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

REEP6 Protein Structure

TB2_DP1_HVA22

0
100
184 a.a.

Protein Preferred Names	Protein Names
receptor expression-enhancing protein 6	deleted in polyposis 1-like 1

REEP6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	REEP6	Q96HR9	HMBOX1	Homo sapiens	Q6NT76-2	Y2H Array	25416956
Intra	REEP6	Q96HR9	HMBOX1	Homo sapiens	Q6NT76-2	Y2H Prey Pooling	25416956
Intra	REEP6	Q96HR9	HMBOX1	Homo sapiens	Q6NT76-2	Validated Y2H	25416956
Intra	REEP6	Q96HR9	PTPN9	Homo sapiens	Q6IQ43	Validated Y2H	25416956
Intra	REEP6	Q96HR9	PTPN9	Homo sapiens	Q6IQ43	Y2H Array	25416956
Cross	REEP6	Q96HR9	ns6_sars2	SARS-CoV-2	P0DTC6	Y2H Array	36217030
Intra	REEP6	Q96HR9	HMBOX1	Homo sapiens	Q6NT76	Y2H Array	25416956
Intra	REEP6	Q96HR9	SNX1	Homo sapiens	Q13596	Validated Y2H	25416956
Intra	REEP6	Q96HR9	SNX1	Homo sapiens	Q13596	Y2H Prey Pooling	25416956
Intra	REEP6	Q96HR9	ZFYVE21	Homo sapiens	Q9BQ24	Y2H Prey Pooling	25416956
Intra	REEP6	Q96HR9	ZFYVE21	Homo sapiens	Q9BQ24	Y2H Array	25416956
Intra	REEP6	Q96HR9	LITAF	Homo sapiens	Q99732	Y2H Array	31515488
Intra	REEP6	Q96HR9	LITAF	Homo sapiens	Q99732	Y2H Array	25416956
Intra	REEP6	Q96HR9	LITAF	Homo sapiens	Q99732	Y2H Prey Pooling	25416956
Intra	REEP6	Q96HR9	SNX15	Homo sapiens	Q9NRS6	Y2H Array	31515488
Intra	REEP6	Q96HR9	SNX15	Homo sapiens	Q9NRS6	Y2H Prey Pooling	25416956
Intra	REEP6	Q96HR9	SNX15	Homo sapiens	Q9NRS6	Y2H Array	25416956
Intra	REEP6	Q96HR9	SNX15	Homo sapiens	Q9NRS6	Y2H	21516116
Intra	REEP6	Q96HR9	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	REEP6	Q96HR9	FHIP1B	Homo sapiens	Q8N612	Y2H Array	25416956
Intra	REEP6	Q96HR9	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	25416956
Intra	REEP6	Q96HR9	SPG21	Homo sapiens	Q9NZD8	Y2H Array	31515488
Intra	REEP6	Q96HR9	SPG21	Homo sapiens	Q9NZD8	Y2H Prey Pooling	25416956
Intra	REEP6	Q96HR9	SPG21	Homo sapiens	Q9NZD8	Y2H Array	25416956
Intra	REEP6	Q96HR9	COQ8A	Homo sapiens	Q8NI60	Y2H Array	25416956
Intra	REEP6	Q96HR9	COQ8A	Homo sapiens	Q8NI60	Y2H Array	31515488
Intra	REEP6	Q96HR9	TNS2	Homo sapiens	Q63HR2	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 77	RP77 Retinitis Pigmentosa, Type 77
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS11817	REEP6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	REEP6	VGNC	VGNC:81922
Bos taurus	REEP6	VGNC	VGNC:33856
Rattus norvegicus	REEP6	RGD	RGD:1309508
Felis catus	REEP6	VGNC	VGNC:64564
Mus musculus	REEP6	MGD	MGI:1917585
Others	REEP6	NCBI