1. Gene
  2. C15orf48 - chromosome 15 open reading frame 48 Gene

C15orf48 - chromosome 15 open reading frame 48 Gene

Homo sapiens

Also known as MOCCI; NMES1; FOAP-11; MISTRAV; COXFA4L3; MIR147BHG

Gene ID: 84419 | Gene type: protein coding

About C15orf48

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,430,610-45,433,340 (from NCBI)

This gene has 4 transcripts (splice variants), 210 orthologues and 2 paralogues. Biased expression in colon (RPKM 233.7), small intestine (RPKM 89.5) and 9 other tissues.

Summary

This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]

C15orf48 Products(2)

mRNA Protein Name
NM_032413.4 NP_115789.1 normal mucosa of esophagus-specific gene 1 protein
NM_197955.3 NP_922946.1 normal mucosa of esophagus-specific gene 1 protein
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
12209954 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

C15orf48 Protein Structure

B12D

B12D: NADH-ubiquinone reductase complex 1 MLRQ subunit (9 - 76)

  • 0
  • 83 a.a.
Protein Preferred Names Protein Names

normal mucosa of esophagus-specific gene 1 protein

MIR147B host

Related Diseases

Diseases Alias
Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Squamous Cell Skin Cancer

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

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
Canis familiaris C15orf48 VGNC VGNC:59105
Rattus norvegicus C15orf48 RGD RGD:1359583
Bos taurus C15orf48 VGNC VGNC:52612
Mus musculus C15orf48 MGD MGI:3034182
Felis catus C15orf48 VGNC VGNC:81016