REEP5 - receptor accessory protein 5 Gene

Also Known as DP1; TB2; YOP1; POB16; Yip2e; D5S346; C5orf18

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7905

About REEP5

Cytogenetic location: 5q22.2 Genomic coordinates (GRCh38): 5:112,876,385-112,922,227 (from NCBI)

This gene has 7 transcripts (splice variants), 206 orthologues and 5 paralogues. Ubiquitous expression in thyroid (RPKM 89.7), brain (RPKM 63.5) and 25 other tissues.

Summary

Predicted to be involved in endoplasmic reticulum organization and regulation of intracellular transport. Located in endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Apr 2022]

REEP5 Products (1)

mRNA Protein Name
NM_005669.5 NP_005660.4 receptor expression-enhancing protein 5
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16762630 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum tubular network IDA
IDA: Inferred from direct assay
23969831 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

REEP5 Protein Structure

TB2_DP1_HVA22

TB2_DP1_HVA22: TB2/DP1, HVA22 family (51 - 145)

  • 0
  • 100
  • 189 a.a.
Protein Preferred Names Protein Names

receptor expression-enhancing protein 5

  • deleted in polyposis 1

REEP5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
REEP5 Q00765 PITPNC1 Homo sapiens Q9UKF7-2 32296183
Intra
REEP5 Q00765 SNX1 Homo sapiens Q13596 32296183
Intra
REEP5 Q00765 RABAC1 Homo sapiens Q9UI14 35271311
Intra
REEP5 Q00765 RABAC1 Homo sapiens Q9UI14 33961781
Intra
REEP5 Q00765 RABAC1 Homo sapiens Q9UI14 28514442
Intra
REEP5 Q00765 ABHD4 Homo sapiens Q8TB40 32296183
Intra
REEP5 Q00765 PBX3 Homo sapiens Q96AL5 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Transitional Papilloma
  • Transitional Cell Papilloma

  • Transitional Cell Papilloma, Benign

Diamond-Blackfan Anemia 5
  • DBA5

  • Rpl35a-Related Diamond-Blackfan Anemia

  • Anemia, Diamond-Blackfan, Type 5

Colorectal Cancer, Hereditary Nonpolyposis, Type 5
  • HNPCC5

  • Hereditary Nonpolyposis Colorectal Cancer Type 5

  • Hereditary Non-Polyposis Colorectal Cancer 5

  • Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5

Muir-Torre Syndrome
  • MRTES

  • Keratoacanthoma

  • Muir-Torré Syndrome

  • Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas

  • Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas

  • Multiple Keratoacanthoma, Muir-Torre Type

  • Mts

  • Torre-Muir Syndrome

Retinitis Pigmentosa 77
  • RP77

  • Retinitis Pigmentosa, Type 77

Mismatch Repair Cancer Syndrome
  • Turcot Syndrome

  • Brain Tumor-Polyposis Syndrome 1

  • Btp1 Syndrome

  • Btps1

  • Childhood Cancer Syndrome

  • Cmmr-D Syndrome

  • Cmmrds

  • Constitutional Mismatch Repair Deficiency Syndrome

  • Mmr Deficiency

  • Cancer Syndrome, Mismatch Repair

  • Malignant Childhood Neoplasm

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Rectal Benign Neoplasm
  • Neoplasm Of Rectum

  • Rectal Tumor

  • Rectum Neoplasm

  • Neoplasm Of The Rectum

  • Rectal Neoplasms

  • Primary Rectal Cancer

  • Rectal Ampulla Cancer

  • Cancer Of The Rectum

  • Carcinoma Of Rectum

  • Primary Malignant Neoplasm Of Rectum

  • Rectal Cancer

  • Rectal Carcinoma

Spastic Paraplegia 10, Autosomal Dominant
  • SPG10

  • Hereditary Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia Type 10

  • Spastic Paraplegia 10

  • Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

  • Autosomal Dominant Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia

  • Spastic Paraplegia, Autosomal Dominant

  • Paraplegia, Spastic, Autosomal Dominant, Type 10

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta REEP5 VGNC VGNC:76864
Mus musculus REEP5 MGD MGI:1270152
Felis catus REEP5 VGNC VGNC:64563
Bos taurus REEP5 VGNC VGNC:33855
Rattus norvegicus REEP5 RGD RGD:1306047
Canis familiaris REEP5 VGNC VGNC:45464
Others REEP5 NCBI