PAX1 - paired box 1 Gene

Also Known as OFC2; HUP48

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5075

About PAX1

Cytogenetic location: 20p11.22 Genomic coordinates (GRCh38): 20:21,705,664-21,718,481 (from NCBI)

This gene has 4 transcripts (splice variants), 224 orthologues, 50 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]

PAX1 Products (2)

mRNA	Protein	Name
NM_001257096.2	NP_001244025.1	paired box protein Pax-1 isoform 2
NM_006192.5	NP_006183.2	paired box protein Pax-1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

PAX1 Protein Structure

PAX

0
100
200
300
400
500
534 a.a.

Protein Preferred Names	Protein Names
paired box protein Pax-1	paired box gene 1

Related Diseases

Diseases	Alias
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Otofaciocervical Syndrome 2 OTFCS2 Ofc2 Otofaciocervical Syndrome, Type 2 Orofacial Cleft 2
Otofaciocervical Syndrome 1	Otofaciocervical Syndrome OTFCS Ofc Ofc1 Fara-Chlupackova Syndrome Ofc Syndrome OTFCS1 Oto-Facio-Cervical Syndrome Orofacial Cleft 1 Fara Chlupackova Syndrome
Craniofacial Microsomia	Goldenhar Syndrome Hemifacial Microsomia Oculoauriculovertebral Spectrum Oavs Oculo-Auriculo-Vertebral Spectrum CFM Oav Dysplasia Facioauriculovertebral Sequence Fav Sequence First And Second Branchial Arch Syndrome Otomandibular Dysostosis Hfm Oculoauriculovertebral Dysplasia Facio-Auriculo-Vertebral Spectrum Facioauriculovertebral Dysplasia Oculo-Auriculo-Vertebral Dysplasia First Arch Syndrome Oav Dysplasia Goldenhar Disease Expanded Spectrum Hemifacial Microsomia Expanded Spectrum Of Hemifacial Microsomia Oculoauriculovertebral Syndrome Oavd Asymmetric Hypoplasia Of Facial Structures Auriculobranchiogenic Dysplasia Fav First And Second Pharyngeal Arch Syndromes Goldenhar-Gorlin Syndrome Lateral Facial Dysplasia Oav Complex Oral-Mandibular-Auricular Syndrome Unilateral Intrauterine Facial Necrosis Unilateral Mandibulofacial Dysostosis Oav Spectrum Oculoauricular Vertebral Dysplasia Microsomia, Hemifacial Goldenhar Syndrome With Ipsilateral Radial Defect
T Cell Deficiency	T Cell Immunodeficiency T Lymphocyte Deficiency T Lymphocyte Immunodeficiency T-Lymphocyte Deficiency
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Spondylocostal Dysostosis 1, Autosomal Recessive	Jarcho-Levin Syndrome SCDO1 Vertebral Anomalies Spondylothoracic Dysplasia Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylocostal Dysostosis 1 Autosomal Recessive Spondylocostal Dysostosis 1 Spondylocostal Dysostosis, Autosomal Recessive, 1 Doid:0112365 Dysostosis, Spondylocostal, Autosomal Recessive, Type 1
Diaphanospondylodysostosis	Vertebral Ossification, Defect In, With Nephrogenic Rests DSD Defect In Vertebral Ossification With Nephrogenic Rests
T-Cell Immunodeficiency With Thymic Aplasia	Nezelof Syndrome T-Lymphocyte Deficiency TIDTA Immune Defect Due To Absence Of Thymus Thymic Aplasia Nezelof'S Syndrome Thymic Dysplasia With Normal Immunoglobulins Thymic Aplasia Syndrome T-Lymphocyte Immunodeficiency
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Scoliosis
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Ovarian Seromucinous Carcinoma	Mixed Epithelial Carcinoma Of Ovary Ovary Mixed Epithelial Carcinoma
Chronic Cervicitis
Spina Bifida Occulta
Branchiootorenal Syndrome 1	Melnick-Fraser Syndrome BOR1 Branchiootorenal Dysplasia Branchiootorenal Syndrome 1, With Or Without Cataracts Bor Syndrome 1 Branchiootorenal Dysplasia 1 Branchio-Oto-Renal Dysplasia 1 Branchio-Oto-Renal Syndrome Type 1 Branchiootorenal Syndrome, With/Without Cataract, Type 1 Branchio-Oto-Renal Syndrome
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Uterus Carcinoma In Situ
Cervix Uteri Carcinoma In Situ	Carcinoma In Situ Of Cervix Carcinoma In Situ Of Uterine Cervix Cervical Intraepithelial Neoplasia Carcinoma Of Cervix Stage 0 Cervical Intraepithelial Neoplasia Grade Iii With Severe Dysplasia Cervix Ca In Situ Cin Iii Cin Iii - Carcinoma In Situ Of Cervix Cin Iii - Severe Dyskaryosis Severe Dysplasia Of Cervix Severe Dysplasia Of The Cervix Uteri Squamous Intraepithelial Neoplasia, Grade Iii Cervix Intraepithelial Neoplasia Grade 3 Ajcc V7
Spondylocostal Dysostosis	Jarcho-Levin Syndrome Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylothoracic Dysplasia Scdo Dysostosis, Spondylocostal
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Bone Structure Disease
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Branchiootic Syndrome	Bo Syndrome Branchiootic Dysplasia Bor Bo Syndrome 1 Bos1 Branchiootic Syndrome 1
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Syringomyelia	Hydromyelia
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Robinow Syndrome, Autosomal Recessive 1	Robinow Syndrome, Autosomal Recessive Autosomal Recessive Robinow Syndrome Covesdem Syndrome RRS1 Costovertebral Segmentation Defect-Mesomelia Syndrome Rrs Costovertebral Segmentation Defect With Mesomelia, Formerly Covesdem Syndrome, Formerly Costovertebral Segmentation Defect With Mesomelia Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly Robinow, Autosomal Recessive Syndrome, Type 1
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
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10088	PAX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-122585	proMMP-9 inhibitor-3c	Inhibitor	/	Unkown
HY-174562	Human PAX1 mRNA		/	Unkown
HY-RS22267	Pax1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28790	Pax1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAX1	RGD	RGD:1588548
Felis catus	PAX1	VGNC	VGNC:68696
Bos taurus	PAX1	VGNC	VGNC:57042
Mus musculus	PAX1	MGD	MGI:97485
Macaca mulatta	PAX1	VGNC	VGNC:75760
Canis familiaris	PAX1	VGNC	VGNC:44275
Others	PAX1	NCBI