TMEM147 - transmembrane protein 147 Gene

Homo sapiens

Also known as NEDFLPH; NIFIE14

Gene ID: 10430 | Gene type: protein coding

About TMEM147

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,545,626-35,547,526 (from NCBI)

This gene has 9 transcripts (splice variants) and 203 orthologues. Ubiquitous expression in kidney (RPKM 36.7), thyroid (RPKM 34.7) and 25 other tissues.

Summary

Enables ribosome binding activity. Located in endoplasmic reticulum membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

TMEM147 Products(3)

mRNA	Protein	Name
NM_001242597.2	NP_001229526.1	transmembrane protein 147 isoform 2
NM_001242598.2	NP_001229527.1	transmembrane protein 147 isoform 3
NM_032635.4	NP_116024.1	transmembrane protein 147 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14667819	GOA
enables ribosome binding	IDA IDA: Inferred from direct assay	32820719	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in multi-pass transmembrane protein insertion into ER membrane	IDA IDA: Inferred from direct assay	36261522	GOA
involved in protein localization to nuclear inner membrane	IDA IDA: Inferred from direct assay	32694168	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	36044892	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	20538592	GOA
part of multi-pass translocon complex	IDA IDA: Inferred from direct assay	36261522	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	32694168	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	20538592	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

TMEM147 Protein Structure

DUF2053

0
100
200
224 a.a.

Protein Preferred Names

Protein Names

transmembrane protein 147

protein NIFIE 14

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly

NEDFLPH

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Dirofilariasis

Dirofilaria Infectious Disease

Infection By Dirofilaria

Eosinophilic Meningitis

Eosinophilic Meningoencephalitis Due To Angiostrongylus Cantonensis

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14670	TMEM147 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TMEM147	RGD	RGD:1304706
Macaca mulatta	TMEM147	VGNC	VGNC:79849
Mus musculus	TMEM147	MGD	MGI:1915011
Bos taurus	TMEM147	VGNC	VGNC:35978
Felis catus	TMEM147	VGNC	VGNC:97662
Canis familiaris	TMEM147	VGNC	VGNC:47480

Name
Email *

	Sorry, but the email address you supplied was invalid.