Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5075
Gene name	Paired box 1
Gene symbol	PAX1
Synonyms (NCBI Gene)	HUP48OFC2OTFCS2
Chromosome	20
Chromosome location	20p11.22
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

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

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
MIRT643407	hsa-miR-5193	HITS-CLIP	23824327
MIRT643406	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT643405	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT643404	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT643403	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT643402	hsa-miR-5087	HITS-CLIP	23824327
MIRT643401	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT643400	hsa-miR-659-3p	HITS-CLIP	23824327
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
MIRT643407	hsa-miR-5193	HITS-CLIP	23824327
MIRT643406	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT643405	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT643404	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT643403	hsa-miR-9-5p	HITS-CLIP	23824327
MIRT643402	hsa-miR-5087	HITS-CLIP	23824327
MIRT643401	hsa-miR-29b-2-5p	HITS-CLIP	23824327
MIRT643400	hsa-miR-659-3p	HITS-CLIP	23824327
MIRT1215255	hsa-miR-296-3p	CLIP-seq
MIRT1215256	hsa-miR-3613-3p	CLIP-seq
MIRT1215257	hsa-miR-520d-5p	CLIP-seq
MIRT1215258	hsa-miR-524-5p	CLIP-seq
MIRT1215259	hsa-miR-556-3p	CLIP-seq
MIRT2061955	hsa-miR-3119	CLIP-seq
MIRT2061956	hsa-miR-3154	CLIP-seq
MIRT2061957	hsa-miR-384	CLIP-seq
MIRT2061958	hsa-miR-3940-5p	CLIP-seq
MIRT2061959	hsa-miR-4330	CLIP-seq
MIRT2061960	hsa-miR-4436b-5p	CLIP-seq
MIRT2061961	hsa-miR-4507	CLIP-seq
MIRT2061962	hsa-miR-4652-3p	CLIP-seq
MIRT2061963	hsa-miR-539	CLIP-seq
MIRT2061964	hsa-miR-570	CLIP-seq
MIRT2290432	hsa-miR-3130-5p	CLIP-seq
MIRT2290433	hsa-miR-4328	CLIP-seq
MIRT2290434	hsa-miR-4482	CLIP-seq
MIRT2455953	hsa-miR-188-5p	CLIP-seq

Show/Hide all (13)

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001501	Process	Skeletal system development	IBA
GO:0001501	Process	Skeletal system development	TAS	9671740
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	1358810
GO:0009792	Process	Embryo development ending in birth or egg hatching	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
167411	8615	ENSG00000125813

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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Craniofacial microsomia	Likely pathogenic	rs2122139711	RCV001869849
Otofaciocervical syndrome 2	Pathogenic; Likely pathogenic	rs1985008715, rs1985007962, rs1555804780, rs1158294764, rs540296842	RCV001523891 RCV001523892 RCV000625741 RCV000984533 RCV000074499

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Benign	rs187767883	RCV005909457
PAX1-related disorder	Benign; Likely benign	rs17861031, rs1002353389, rs1227825826, rs138641387, rs148928178, rs183464369, rs980789230, rs548440049, rs561881801, rs202103929, rs199677616, rs777132194, rs371067467	RCV003966110 RCV003951249 RCV003893639 RCV003972566 RCV003960667 RCV003940580 RCV003950453 RCV003950644 RCV003958182 RCV003950824 RCV003958378 RCV004757337 RCV003960480

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Mouth Diseases	Stimulate	20564139
Mouth Diseases	Associate	24799352, 24844223, 26320460, 27789946
Neoplasm Metastasis	Associate	20442585, 25973053
Neoplasms	Inhibit	21999220, 31450846
Neoplasms	Associate	24786473, 26768780, 27789946, 28241446, 37533109, 38115290
Neural Tube Defects	Associate	8863157
Otofaciocervical Syndrome	Associate	35879406, 37924468
Renal cell carcinoma 1	Associate	25985991
Severe Combined Immunodeficiency	Associate	35879406
Spinal Dysraphism	Associate	8863157
Squamous Cell Carcinoma of Head and Neck	Associate	28814981, 30777857
Squamous Intraepithelial Lesions	Associate	24568514, 26552048, 38448375, 39331483
Squamous Intraepithelial Lesions	Stimulate	26768780
Thymic aplasia	Associate	35879406
Uterine Cervical Dysplasia	Associate	20442585, 24799352, 27789946
Uterine Cervical Neoplasms	Associate	20442585, 24844223, 25973053, 25985991, 26552048, 26768780, 27293491, 27789946, 28241446, 31235851, 32616628, 36799003, 37533109, 39304838, 39331483
Uterine Cervicitis	Associate	36799003, 38448375, 39304838, 39528979, 40777030

PAX1 (paired box 1)