NUP107 - nucleoporin 107 Gene

Homo sapiens

Also known as ODG6; NUP84; NPHS11; ODG6; GAMOS7

Gene ID: 57122 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

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

Bioactive Molecules (1)

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

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