1. Gene
  2. JAGN1 - jagunal homolog 1 Gene

JAGN1 - jagunal homolog 1 Gene

Homo sapiens

Also known as SCN6; GL009

Gene ID: 84522 | Gene type: protein coding

About JAGN1

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,890,610-9,894,349 (from NCBI)

This gene has 2 transcripts (splice variants), 267 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 15.3), liver (RPKM 12.7) and 25 other tissues.

Summary

The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]

JAGN1 Products(2)

mRNA Protein Name
NM_001363890.1 NP_001350819.1 protein jagunal homolog 1 isoform b
NM_032492.4 NP_115881.3 protein jagunal homolog 1 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in granulocyte colony-stimulating factor signaling pathway IMP
IMP: Inferred from mutant phenotype
25129144 GOA
involved in neutrophil differentiation IMP
IMP: Inferred from mutant phenotype
25129144 GOA
involved in vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
25129144 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
25129144 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

JAGN1 Protein Structure

Jagunal

Jagunal: Jagunal, ER re-organisation during oogenesis (1 - 183)

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

protein jagunal homolog 1

JAGN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
JAGN1 Q8N5M9 RETREG3 Homo sapiens Q86VR2 32296183
Intra
JAGN1 Q8N5M9 RETREG3 Homo sapiens Q86VR2 32296183
Intra
JAGN1 Q8N5M9 CCL4L1 Homo sapiens Q8NHW4 32296183
Intra
JAGN1 Q8N5M9 TMEM242 Homo sapiens Q9NWH2 32296183
Intra
JAGN1 Q8N5M9 NINJ2 Homo sapiens Q9NZG7 32296183
Intra
JAGN1 Q8N5M9 SERP1 Homo sapiens Q9Y6X1 32296183
Intra
JAGN1 Q8N5M9 MRM3 Homo sapiens Q9HC36 32296183
Intra
JAGN1 Q8N5M9 MRM3 Homo sapiens Q9HC36 32296183
Intra
JAGN1 Q8N5M9 MRM3 Homo sapiens Q9HC36 32296183
Intra
JAGN1 Q8N5M9 VAPA Homo sapiens Q9P0L0 32296183
Intra
JAGN1 Q8N5M9 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
JAGN1 Q8N5M9 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
JAGN1 Q8N5M9 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
JAGN1 Q8N5M9 ARL13B Homo sapiens Q3SXY8 32296183
Intra
JAGN1 Q8N5M9 ARL13B Homo sapiens Q3SXY8 32296183
Intra
JAGN1 Q8N5M9 CMTM5 Homo sapiens Q96DZ9-2 32296183
Intra
JAGN1 Q8N5M9 MFF Homo sapiens Q9GZY8-5 32296183
Intra
JAGN1 Q8N5M9 MFF Homo sapiens Q9GZY8-5 32296183
Intra
JAGN1 Q8N5M9 MFF Homo sapiens Q9GZY8-5 32296183
Intra
JAGN1 Q8N5M9 GIMAP1 Homo sapiens Q8WWP7 32296183
Intra
JAGN1 Q8N5M9 C4orf3 Homo sapiens Q8WVX3-2 32296183
Intra
JAGN1 Q8N5M9 LPAR3 Homo sapiens Q9UBY5 32296183
Intra
JAGN1 Q8N5M9 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
JAGN1 Q8N5M9 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
JAGN1 Q8N5M9 FNDC9 Homo sapiens Q8TBE3 32296183
Intra
JAGN1 Q8N5M9 PLP1 Homo sapiens P60201-2 32296183
Intra
JAGN1 Q8N5M9 PLP1 Homo sapiens P60201-2 32296183
Intra
JAGN1 Q8N5M9 CLEC4D Homo sapiens Q8WXI8 32296183
Intra
JAGN1 Q8N5M9 CLEC4D Homo sapiens Q8WXI8 32296183
Intra
JAGN1 Q8N5M9 CLEC4D Homo sapiens Q8WXI8 32296183
Intra
JAGN1 Q8N5M9 SLC34A2 Homo sapiens O95436-2 32296183
Intra
JAGN1 Q8N5M9 SLC34A2 Homo sapiens O95436-2 32296183
Intra
JAGN1 Q8N5M9 CLEC12B Homo sapiens Q2HXU8-2 32296183
Intra
JAGN1 Q8N5M9 CLEC12B Homo sapiens Q2HXU8-2 32296183
Intra
JAGN1 Q8N5M9 NRG1 Homo sapiens Q02297-10 32296183
Intra
JAGN1 Q8N5M9 NRG1 Homo sapiens Q02297-10 32296183
Intra
JAGN1 Q8N5M9 TMEM243 Homo sapiens Q9BU79 32296183
Intra
JAGN1 Q8N5M9 STOML3 Homo sapiens Q8TAV4 32296183
Intra
JAGN1 Q8N5M9 STOML3 Homo sapiens Q8TAV4 32296183
Intra
JAGN1 Q8N5M9 STOML3 Homo sapiens Q8TAV4 32296183
Intra
JAGN1 Q8N5M9 HTATIP2 Homo sapiens Q9BUP3-3 32296183
Intra
JAGN1 Q8N5M9 AQP6 Homo sapiens Q13520 32296183
Intra
JAGN1 Q8N5M9 AQP6 Homo sapiens Q13520 32296183
Intra
JAGN1 Q8N5M9 TMEM207 Homo sapiens Q6UWW9 32296183
Intra
JAGN1 Q8N5M9 TMEM207 Homo sapiens Q6UWW9 32296183
Intra
JAGN1 Q8N5M9 GPR152 Homo sapiens Q8TDT2 32296183
Intra
JAGN1 Q8N5M9 GPR152 Homo sapiens Q8TDT2 32296183
Intra
JAGN1 Q8N5M9 GPR152 Homo sapiens Q8TDT2 32296183
Intra
JAGN1 Q8N5M9 SLAMF6 Homo sapiens Q96DU3 32296183
Intra
JAGN1 Q8N5M9 SLAMF6 Homo sapiens Q96DU3 32296183
Intra
JAGN1 Q8N5M9 SLAMF6 Homo sapiens Q96DU3 32296183
Intra
JAGN1 Q8N5M9 TREX1 Homo sapiens Q9NSU2-1 32296183
Intra
JAGN1 Q8N5M9 FCRL2 Homo sapiens Q96LA5-2 32296183
Intra
JAGN1 Q8N5M9 FCRL2 Homo sapiens Q96LA5-2 32296183
Intra
JAGN1 Q8N5M9 FCRL2 Homo sapiens Q96LA5-2 32296183
Intra
JAGN1 Q8N5M9 KIR3DL3 Homo sapiens Q8N743 32296183
Intra
JAGN1 Q8N5M9 KIR3DL3 Homo sapiens Q8N743 32296183
Intra
JAGN1 Q8N5M9 KIR3DL3 Homo sapiens Q8N743 32296183
Intra
JAGN1 Q8N5M9 AGPAT4 Homo sapiens Q9NRZ5 32296183
Intra
JAGN1 Q8N5M9 IL3RA Homo sapiens P26951 32296183
Intra
JAGN1 Q8N5M9 IL3RA Homo sapiens P26951 32296183
Intra
JAGN1 Q8N5M9 SMIM19 Homo sapiens Q96E16 32296183
Intra
JAGN1 Q8N5M9 SMIM19 Homo sapiens Q96E16 32296183
Intra
JAGN1 Q8N5M9 SMIM19 Homo sapiens Q96E16 32296183
Intra
JAGN1 Q8N5M9 GP2 Homo sapiens P55259-4 32296183
Intra
JAGN1 Q8N5M9 GP2 Homo sapiens P55259-4 32296183
Intra
JAGN1 Q8N5M9 BTNL9 Homo sapiens Q6UXG8-3 32296183
Intra
JAGN1 Q8N5M9 BTNL9 Homo sapiens Q6UXG8-3 32296183
Intra
JAGN1 Q8N5M9 HSD17B13 Homo sapiens Q7Z5P4 32296183
Intra
JAGN1 Q8N5M9 HSD17B13 Homo sapiens Q7Z5P4 32296183
Intra
JAGN1 Q8N5M9 TMEM52B Homo sapiens Q4KMG9 32296183
Intra
JAGN1 Q8N5M9 TMEM52B Homo sapiens Q4KMG9 32296183
Intra
JAGN1 Q8N5M9 FAM209A Homo sapiens Q5JX71 32296183
Intra
JAGN1 Q8N5M9 FAM209A Homo sapiens Q5JX71 32296183
Intra
JAGN1 Q8N5M9 ELOVL4 Homo sapiens Q9GZR5 32296183
Intra
JAGN1 Q8N5M9 ELOVL4 Homo sapiens Q9GZR5 32296183
Intra
JAGN1 Q8N5M9 ELOVL4 Homo sapiens Q9GZR5 32296183
Intra
JAGN1 Q8N5M9 CGRRF1 Homo sapiens Q99675 32296183
Intra
JAGN1 Q8N5M9 CGRRF1 Homo sapiens Q99675 32296183
Intra
JAGN1 Q8N5M9 CERS4 Homo sapiens Q9HA82 32296183
Intra
JAGN1 Q8N5M9 CERS4 Homo sapiens Q9HA82 32296183
Intra
JAGN1 Q8N5M9 CERS4 Homo sapiens Q9HA82 32296183
Intra
JAGN1 Q8N5M9 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
JAGN1 Q8N5M9 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
JAGN1 Q8N5M9 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
JAGN1 Q8N5M9 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
JAGN1 Q8N5M9 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
JAGN1 Q8N5M9 LHFPL5 Homo sapiens Q8TAF8 32296183
Intra
JAGN1 Q8N5M9 TMEM106C Homo sapiens Q9BVX2 32296183
Intra
JAGN1 Q8N5M9 TMEM106C Homo sapiens Q9BVX2 32296183
Intra
JAGN1 Q8N5M9 TMEM106C Homo sapiens Q9BVX2 32296183
Intra
JAGN1 Q8N5M9 FCGR1A Homo sapiens P12314 32296183
Intra
JAGN1 Q8N5M9 FCGR1A Homo sapiens P12314 32296183
Intra
JAGN1 Q8N5M9 TECR Homo sapiens Q9NZ01 32296183
Intra
JAGN1 Q8N5M9 GPR37L1 Homo sapiens O60883 32296183
Intra
JAGN1 Q8N5M9 GPR37L1 Homo sapiens O60883 32296183
Intra
JAGN1 Q8N5M9 FIS1 Homo sapiens Q9Y3D6 32296183
Intra
JAGN1 Q8N5M9 IFNGR2 Homo sapiens P38484 32296183
Intra
JAGN1 Q8N5M9 IFNGR2 Homo sapiens P38484 32296183
Intra
JAGN1 Q8N5M9 GJB5 Homo sapiens O95377 32296183
Intra
JAGN1 Q8N5M9 GJB5 Homo sapiens O95377 32296183
Intra
JAGN1 Q8N5M9 EBP Homo sapiens Q15125 32296183
Intra
JAGN1 Q8N5M9 EBP Homo sapiens Q15125 32296183
Intra
JAGN1 Q8N5M9 SACM1L Homo sapiens Q9NTJ5 32296183
Intra
JAGN1 Q8N5M9 SAR1A Homo sapiens Q9NR31 32296183
Intra
JAGN1 Q8N5M9 SAR1A Homo sapiens Q9NR31 32296183
Intra
JAGN1 Q8N5M9 MTIF3 Homo sapiens Q9H2K0 32296183
Intra
JAGN1 Q8N5M9 MTIF3 Homo sapiens Q9H2K0 32296183
Intra
JAGN1 Q8N5M9 MTIF3 Homo sapiens Q9H2K0 32296183
Intra
JAGN1 Q8N5M9 CLEC7A Homo sapiens Q9BXN2 25416956
Intra
JAGN1 Q8N5M9 FCRL4 Homo sapiens Q96PJ5 32296183
Intra
JAGN1 Q8N5M9 FCRL4 Homo sapiens Q96PJ5 32296183
Intra
JAGN1 Q8N5M9 FCRL4 Homo sapiens Q96PJ5 32296183
Intra
JAGN1 Q8N5M9 TNFSF14 Homo sapiens O43557 32296183
Intra
JAGN1 Q8N5M9 TNFSF14 Homo sapiens O43557 32296183
Intra
JAGN1 Q8N5M9 EDA2R Homo sapiens Q9HAV5 32296183
Intra
JAGN1 Q8N5M9 EDA2R Homo sapiens Q9HAV5 32296183
Intra
JAGN1 Q8N5M9 EDA2R Homo sapiens Q9HAV5 32296183
Intra
JAGN1 Q8N5M9 GIMAP5 Homo sapiens Q96F15 32296183
Intra
JAGN1 Q8N5M9 FRMD3 Homo sapiens A2A2Y4 32296183
Intra
JAGN1 Q8N5M9 FRMD3 Homo sapiens A2A2Y4 32296183
Intra
JAGN1 Q8N5M9 OTULINL Homo sapiens Q9NUU6 32296183
Intra
JAGN1 Q8N5M9 CREB3L1 Homo sapiens Q96BA8 25416956
Intra
JAGN1 Q8N5M9 ERG28 Homo sapiens Q9UKR5 32296183
Intra
JAGN1 Q8N5M9 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
JAGN1 Q8N5M9 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
JAGN1 Q8N5M9 GOLM1 Homo sapiens Q8NBJ4 32296183
Intra
JAGN1 Q8N5M9 STX1A Homo sapiens Q16623 32296183
Intra
JAGN1 Q8N5M9 STX1A Homo sapiens Q16623 32296183
Intra
JAGN1 Q8N5M9 FXYD6 Homo sapiens Q9H0Q3 32296183
Intra
JAGN1 Q8N5M9 PDZK1IP1 Homo sapiens Q13113 32296183
Intra
JAGN1 Q8N5M9 PDZK1IP1 Homo sapiens Q13113 32296183
Intra
JAGN1 Q8N5M9 PLPP2 Homo sapiens O43688 32296183
Intra
JAGN1 Q8N5M9 PLPP2 Homo sapiens O43688 32296183
Intra
JAGN1 Q8N5M9 VTI1B Homo sapiens Q9UEU0 32296183
Intra
JAGN1 Q8N5M9 VTI1B Homo sapiens Q9UEU0 32296183
Intra
JAGN1 Q8N5M9 IER3IP1 Homo sapiens Q9Y5U9 32296183
Intra
JAGN1 Q8N5M9 STX8 Homo sapiens Q9UNK0 32296183
Intra
JAGN1 Q8N5M9 CLDN7 Homo sapiens O95471 32296183
Intra
JAGN1 Q8N5M9 CLDN7 Homo sapiens O95471 32296183
Intra
JAGN1 Q8N5M9 F11R Homo sapiens Q9Y624 32296183
Intra
JAGN1 Q8N5M9 F11R Homo sapiens Q9Y624 32296183
Intra
JAGN1 Q8N5M9 F11R Homo sapiens Q9Y624 32296183
Intra
JAGN1 Q8N5M9 USE1 Homo sapiens Q9NZ43 32296183
Intra
JAGN1 Q8N5M9 BCL2L13 Homo sapiens Q9BXK5 32296183
Intra
JAGN1 Q8N5M9 BCL2L13 Homo sapiens Q9BXK5 32296183
Intra
JAGN1 Q8N5M9 BCL2L13 Homo sapiens Q9BXK5 32296183
Intra
JAGN1 Q8N5M9 KASH5 Homo sapiens Q8N6L0 32296183
Intra
JAGN1 Q8N5M9 KASH5 Homo sapiens Q8N6L0 32296183
Intra
JAGN1 Q8N5M9 KASH5 Homo sapiens Q8N6L0 25416956
Intra
JAGN1 Q8N5M9 KASH5 Homo sapiens Q8N6L0 32296183
Intra
JAGN1 Q8N5M9 CD79A Homo sapiens P11912 32296183
Intra
JAGN1 Q8N5M9 CD79A Homo sapiens P11912 32296183
Intra
JAGN1 Q8N5M9 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
JAGN1 Q8N5M9 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
JAGN1 Q8N5M9 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
JAGN1 Q8N5M9 BSND Homo sapiens Q8WZ55 32296183
Intra
JAGN1 Q8N5M9 BSND Homo sapiens Q8WZ55 32296183
Intra
JAGN1 Q8N5M9 BSND Homo sapiens Q8WZ55 32296183
Intra
JAGN1 Q8N5M9 KCNA1 Homo sapiens Q09470 32296183
Intra
JAGN1 Q8N5M9 KCNA1 Homo sapiens Q09470 32296183
Intra
JAGN1 Q8N5M9 KIR2DL3 Homo sapiens P43628 32296183
Intra
JAGN1 Q8N5M9 KIR2DL3 Homo sapiens P43628 32296183
Intra
JAGN1 Q8N5M9 TMEM14B Homo sapiens Q9NUH8 32296183
Intra
JAGN1 Q8N5M9 DNAJC30 Homo sapiens Q96LL9 32296183
Intra
JAGN1 Q8N5M9 TMEM100 Homo sapiens Q9NV29 32296183
Intra
JAGN1 Q8N5M9 VSIG4 Homo sapiens Q9Y279 32296183
Intra
JAGN1 Q8N5M9 VSIG4 Homo sapiens Q9Y279 32296183
Intra
JAGN1 Q8N5M9 VSIG4 Homo sapiens Q9Y279 32296183
Intra
JAGN1 Q8N5M9 UBE2J1 Homo sapiens Q9Y385 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neutropenia, Severe Congenital, 6, Autosomal Recessive

SCN6

Neutropenia, Severe Congenital 6, Autosomal Recessive

Severe Congenital Neutropenia 6, Autosomal Recessive

Neutropenia, Severe Congenital, Type 6, Autosomal Recessive

Severe Congenital Neutropenia 6

Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency

Scn6

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Neutropenia

Leukopenia

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5

Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7

Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical

Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type

PN

Clericuzio Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio-Type

Clericuzio-Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia Clericuzio Type

Immune-Deficient Poikiloderma

Clericuzio-Type Poikiloderma Neutropenia Syndrome

Poikiloderma With Neutropenia Clericuzio-Type

Poikiloderma, With Neutropenia

Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

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
Mus musculus JAGN1 MGD MGI:1915017
Canis familiaris JAGN1 VGNC VGNC:42174
Bos taurus JAGN1 VGNC VGNC:30363
Rattus norvegicus JAGN1 RGD RGD:1565488
Macaca mulatta JAGN1 VGNC VGNC:73664
Felis catus JAGN1 VGNC VGNC:62998