NUP107 - nucleoporin 107 Gene

Also Known as ODG6; NUP84; NPHS11; ODG6; GAMOS7

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57122

About NUP107

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:68,686,978-68,745,809 (from NCBI)

This gene has 13 transcripts (splice variants), 204 orthologues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 14.7), lymph node (RPKM 14.2) and 25 other tissues.

Summary

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

NUP107 Products (2)

mRNA	Protein	Name
NM_001330192.2	NP_001317121.1	nuclear pore complex protein Nup107 isoform 2
NM_020401.4	NP_065134.1	nuclear pore complex protein Nup107 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11564755	GOA
enables structural constituent of nuclear pore	IDA IDA: Inferred from direct assay	11684705	GOA
enables structural constituent of nuclear pore	IMP IMP: Inferred from mutant phenotype	15229283	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in female gonad development	IMP IMP: Inferred from mutant phenotype	26485283	GOA
involved in mRNA export from nucleus	IDA IDA: Inferred from direct assay	11684705	GOA
involved in nephron development	IMP IMP: Inferred from mutant phenotype	30179222	GOA
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	15229283	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with kinetochore	IDA IDA: Inferred from direct assay	17363900	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	12802065	GOA
located in nuclear periphery	IDA IDA: Inferred from direct assay	15229283	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	11564755	GOA
part of nuclear pore outer ring	IDA IDA: Inferred from direct assay	17360435	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

NUP107 Protein Structure

Nup84_Nup100

0
200
400
600
800
925 a.a.

Protein Preferred Names	Protein Names
nuclear pore complex protein Nup107	nucleoporin 107kDa

NUP107 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NUP107	P57740	NUP133	Homo sapiens	Q8WUM0	Anti Tag CoIP	35271311
Intra	NUP107	P57740	NUP133	Homo sapiens	Q8WUM0	Anti Tag CoIP	30179222
Intra	NUP107	P57740	NUP133	Homo sapiens	Q8WUM0	CoIP	11564755
Intra	NUP107	P57740	NUP133	Homo sapiens	Q8WUM0	Anti Tag CoIP	26496610
Intra	NUP107	P57740	NUP133	Homo sapiens	Q8WUM0	Y2H Array	27194810

Cross: Cross-species interaction Intra: Intraspecies interaction

NUP107 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81715	NUP107 Antibody (YA1460)	WB	Human, Rat
HY-P81715A	NUP107 Antibody (YA1460)(PBS only)	WB	Human, Rat

Related Diseases

Diseases	Alias
Ovarian Dysgenesis 6	ODG6
Nephrotic Syndrome, Type 11	NPHS11 Nephrotic Syndrome Type 11 Nephrotic Syndrome 11
Galloway-Mowat Syndrome 7	GAMOS7
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
46,Xx Sex Reversal 1	46,Xx Testicular Disorder Of Sex Development 46,Xx Gonadal Dysgenesis SRXX1 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive 46,Xx Testicular Dsd Xx Male Syndrome 46,Xx Complete Gonadal Dysgenesis 46,Xx Pure Gonadal Dysgenesis Follicular Stimulating Hormone-Resistant Ovaries Hypergonadotropic Ovarian Dysgenesis Ovotesticular Disorder Of Sex Development 46,Xx Sex Reversal, Sry-Positive Xx Male, Sry-Positive 46xx Sex Reversal 1 46, Xx Gonadal Sex Reversal Xx Sex Reversal 46,Xx Ovarian Dysgenesis Fsh-Ro Xx Female Gonadal Dysgenesis Xx-Gd 46,Xx Ovotesticular Disorder Of Sex Development 46,Xx Ovotesticular Dsd De La Chapelle Syndrome Xx, Male Syndrome 46,Xx Gonadal Dysgenesis Complete Sry-Positive 46,Xx Sex Reversal Sry-Positive 46,Xx True Hermaphroditism Sry-Positive Ovotesticular Dsd Xx Male Sry-Positive Ovotesticular Disorders Of Sex Development 46, Xx Testicular Disorders Of Sex Development Resistant Ovary Syndrome Dysgenetic Ovaries Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries] True Hermaphroditism Ovotestis True Hermaphrodite
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Uterine Hypoplasia
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Frasier Syndrome	FS
Polymicrogyria	Pmg
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09683	NUP107 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NUP107	RGD	RGD:621160
Bos taurus	NUP107	VGNC	VGNC:32350
Canis familiaris	NUP107	VGNC	VGNC:44044
Macaca mulatta	NUP107	VGNC	VGNC:75488
Mus musculus	NUP107	MGD	MGI:2143854
Felis catus	NUP107	VGNC	VGNC:63918
Others	NUP107	NCBI