PAX1 (paired box 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5075
Gene name Gene Name - the full gene name approved by the HGNC.
Paired box 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAX1
Synonyms (NCBI Gene) Gene synonyms aliases
HUP48, OFC2, OTFCS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OTFCS2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs540296842 G>C,T Pathogenic Coding sequence variant, missense variant
rs1158294764 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs1555804780 ->GCCCG Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(45)
miRTarBase ID miRNA Experiments Reference
MIRT716300 hsa-miR-646 HITS-CLIP 19536157
MIRT716299 hsa-miR-4660 HITS-CLIP 19536157
MIRT716298 hsa-miR-6828-5p HITS-CLIP 19536157
MIRT716297 hsa-miR-671-5p HITS-CLIP 19536157
MIRT716296 hsa-miR-6079 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
167411 8615 ENSG00000125813
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P15863
Protein name Paired box protein Pax-1 (HuP48)
Protein function This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00292 PAX 98 → 222 Domain
Sequence 
MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPRLGRRGSRLSGALPLCL
SRGGGGAQALPDCAGPSPGHPGHPGARQLAGPLAMEQTYGEVNQLGGVFVNGRPLPNAIR
LRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTTPNVVKH
IRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGSLAQPGPYEASKQP
PSQPTLPYNHIYQYPYPSPVSPTGAKMGSHPGVPGTAGHVSIPRSWPSAHSVSNILGIRT
FMEQTGALAGSEGTAYSPKMEDWAGVNRTAFPATPAVNGLEKPALEADIKYTQSASTLSA
VGGFLPACAYPASNQHGVYSAPGGGYLAPGPPWPPAQGPPLAPPGAGVAVHGGELAAAMT
FKHPSREGSLPAPAARPRTPSVAYTDCPSRPRPPRGSSPRTRARRERQADPGAQVCAAAP
AIGTGRIGGLAEEEASAGPRGARPASPQAQPCLWPDPPHFLYWSGFLGFSELGF
Sequence length 534
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Conductive hearing loss, Hearing Loss, Mixed Conductive-Sensorineural rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Otofaciocervical syndrome Otofaciocervical Syndrome, OTOFACIOCERVICAL SYNDROME 2, Otofaciocervical syndrome rs869025180, rs540296842, rs1555804780, rs1158294764 23851939
Show/Hide Text Mining Associations (27)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 24407576
Atypical Squamous Cells of the Cervix Associate 26320460, 39528979
Auriculo condylar syndrome Associate 35879406
Carcinoma Squamous Cell Associate 27789946, 39304838
Dementia Multi Infarct Associate 35879406
Esophageal Squamous Cell Carcinoma Associate 28241446, 31629253
Farber Lipogranulomatosis Associate 24407576
Fibrocartilaginous embolism Associate 26735178, 29941029
Head and Neck Neoplasms Associate 24786473, 30777857
Language Development Disorders Associate 37924468