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	5307
Gene name	Paired like homeodomain 1
Gene symbol	PITX1
Synonyms (NCBI Gene)	BFTCCFLBNBGPOTXPTX1
Chromosome	5
Chromosome location	5q31.1
Summary	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs370433085	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs730882191	GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT>-	Pathogenic	Coding sequence variant, frameshift variant

181

Show/Hide all (181)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049789	hsa-miR-92a-3p	CLASH	23622248
MIRT045636	hsa-miR-149-5p	CLASH	23622248
MIRT044749	hsa-miR-320a	CLASH	23622248
MIRT043542	hsa-miR-331-3p	CLASH	23622248
MIRT614517	hsa-miR-431-3p	HITS-CLIP	19536157
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	19536157
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	19536157
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	19536157
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	19536157
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	19536157
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	19536157
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT614517	hsa-miR-431-3p	HITS-CLIP	23824327
MIRT614516	hsa-miR-6840-5p	HITS-CLIP	23824327
MIRT614515	hsa-miR-4707-5p	HITS-CLIP	23824327
MIRT614514	hsa-miR-6850-3p	HITS-CLIP	23824327
MIRT614513	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT614512	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT614511	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT1237003	hsa-miR-1908	CLIP-seq
MIRT1237004	hsa-miR-1910	CLIP-seq
MIRT1237005	hsa-miR-2277-5p	CLIP-seq
MIRT1237006	hsa-miR-30a	CLIP-seq
MIRT1237007	hsa-miR-30b	CLIP-seq
MIRT1237008	hsa-miR-30c	CLIP-seq
MIRT1237009	hsa-miR-30d	CLIP-seq
MIRT1237010	hsa-miR-30e	CLIP-seq
MIRT1237011	hsa-miR-3178	CLIP-seq
MIRT1237012	hsa-miR-3191	CLIP-seq
MIRT1237013	hsa-miR-3607-3p	CLIP-seq
MIRT1237014	hsa-miR-3616-3p	CLIP-seq
MIRT1237015	hsa-miR-3656	CLIP-seq
MIRT1237016	hsa-miR-3960	CLIP-seq
MIRT1237017	hsa-miR-4258	CLIP-seq
MIRT1237018	hsa-miR-4436b-3p	CLIP-seq
MIRT1237019	hsa-miR-4443	CLIP-seq
MIRT1237020	hsa-miR-4455	CLIP-seq
MIRT1237021	hsa-miR-4479	CLIP-seq
MIRT1237022	hsa-miR-4481	CLIP-seq
MIRT1237023	hsa-miR-455-3p	CLIP-seq
MIRT1237024	hsa-miR-4672	CLIP-seq
MIRT1237025	hsa-miR-4706	CLIP-seq
MIRT1237026	hsa-miR-4707-3p	CLIP-seq
MIRT1237027	hsa-miR-4738-5p	CLIP-seq
MIRT1237028	hsa-miR-4740-3p	CLIP-seq
MIRT1237029	hsa-miR-4743	CLIP-seq
MIRT1237030	hsa-miR-4745-5p	CLIP-seq
MIRT1237031	hsa-miR-4747-3p	CLIP-seq
MIRT1237032	hsa-miR-4749-5p	CLIP-seq
MIRT1237033	hsa-miR-4755-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237035	hsa-miR-539	CLIP-seq
MIRT1237036	hsa-miR-556-3p	CLIP-seq
MIRT1237037	hsa-miR-582-5p	CLIP-seq
MIRT1237038	hsa-miR-615-5p	CLIP-seq
MIRT1237039	hsa-miR-663	CLIP-seq
MIRT1237040	hsa-miR-759	CLIP-seq
MIRT1237041	hsa-miR-891b	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1922315	hsa-miR-3140-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1922315	hsa-miR-3140-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237004	hsa-miR-1910	CLIP-seq
MIRT1237006	hsa-miR-30a	CLIP-seq
MIRT1237007	hsa-miR-30b	CLIP-seq
MIRT1237008	hsa-miR-30c	CLIP-seq
MIRT1237009	hsa-miR-30d	CLIP-seq
MIRT1237010	hsa-miR-30e	CLIP-seq
MIRT1237013	hsa-miR-3607-3p	CLIP-seq
MIRT1237014	hsa-miR-3616-3p	CLIP-seq
MIRT1237023	hsa-miR-455-3p	CLIP-seq
MIRT1237024	hsa-miR-4672	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq
MIRT1237036	hsa-miR-556-3p	CLIP-seq
MIRT1237037	hsa-miR-582-5p	CLIP-seq
MIRT1237041	hsa-miR-891b	CLIP-seq
MIRT2297028	hsa-miR-127-3p	CLIP-seq
MIRT2297029	hsa-miR-1538	CLIP-seq
MIRT1237004	hsa-miR-1910	CLIP-seq
MIRT2297030	hsa-miR-19a	CLIP-seq
MIRT2297031	hsa-miR-19b	CLIP-seq
MIRT1237005	hsa-miR-2277-5p	CLIP-seq
MIRT1237006	hsa-miR-30a	CLIP-seq
MIRT1237007	hsa-miR-30b	CLIP-seq
MIRT1237008	hsa-miR-30c	CLIP-seq
MIRT1237009	hsa-miR-30d	CLIP-seq
MIRT1237010	hsa-miR-30e	CLIP-seq
MIRT1237011	hsa-miR-3178	CLIP-seq
MIRT1237013	hsa-miR-3607-3p	CLIP-seq
MIRT1237015	hsa-miR-3656	CLIP-seq
MIRT2297032	hsa-miR-4264	CLIP-seq
MIRT1237020	hsa-miR-4455	CLIP-seq
MIRT1237023	hsa-miR-455-3p	CLIP-seq
MIRT2297033	hsa-miR-4645-5p	CLIP-seq
MIRT1237024	hsa-miR-4672	CLIP-seq
MIRT2297034	hsa-miR-4673	CLIP-seq
MIRT1237026	hsa-miR-4707-3p	CLIP-seq
MIRT1237029	hsa-miR-4743	CLIP-seq
MIRT2297035	hsa-miR-4745-3p	CLIP-seq
MIRT1237031	hsa-miR-4747-3p	CLIP-seq
MIRT2297036	hsa-miR-4796-3p	CLIP-seq
MIRT2297037	hsa-miR-518a-5p	CLIP-seq
MIRT2297038	hsa-miR-520g	CLIP-seq
MIRT2297039	hsa-miR-520h	CLIP-seq
MIRT2297040	hsa-miR-527	CLIP-seq
MIRT1237036	hsa-miR-556-3p	CLIP-seq
MIRT1237037	hsa-miR-582-5p	CLIP-seq
MIRT1922315	hsa-miR-3140-3p	CLIP-seq
MIRT1237034	hsa-miR-511	CLIP-seq

Show/Hide all (32)

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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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	IEA
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
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	9070926
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 24722188, 25416956, 25910212, 29892012, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17984056
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9070926
GO:0014707	Process	Branchiomeric skeletal muscle development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048625	Process	Myoblast fate commitment	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	26612202
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
602149	9004	ENSG00000069011

P78337

Protein name

Pituitary homeobox 1 (Hindlimb-expressed homeobox protein backfoot) (Homeobox protein PITX1) (Paired-like homeodomain transcription factor 1)

Protein function

Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	90 → 146	Homeodomain	Domain
PF03826	OAR	276 → 293	OAR motif	Motif

Sequence

MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKER
GGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMRE
EIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYS
YNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNS
GLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGL
QGPASGLNACQYNS

Sequence length

314

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
Clubfoot	Likely pathogenic; Pathogenic	rs1752408604, rs2149562896, rs121909109, rs2479672475, rs730882191	RCV001335965 RCV001785380 RCV000007934 RCV003223529 RCV000030814
Hurler syndrome	Likely pathogenic	rs1752408637	RCV001201163

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Brachydactyly-elbow wrist dysplasia syndrome	Benign; Uncertain significance	rs141612135, rs2479667020, rs479632	RCV001716244 RCV002470409 RCV001788189
Micrognathia	Conflicting classifications of pathogenicity	rs141612135	RCV001199403
PITX1-related disorder	Likely benign; Uncertain significance	rs371250970, rs1240871076, rs200888898, rs752690307	RCV003978605 RCV003418574 RCV003947910 RCV003418804

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Absence of Tibia	Associate	18950742, 22258522
Adamantinoma	Associate	22258522
Adenocarcinoma of Lung	Associate	32294625, 33530195
Adenoma	Associate	18079591
Autistic Disorder	Associate	18053270
Breast Neoplasms	Associate	20132413, 21868451, 32830857, 34215221, 35132081
Breast Neoplasms	Stimulate	35225467
Carcinogenesis	Associate	18186570
Carcinoma Adenoid Cystic	Associate	21692051
Carcinoma Endometrioid	Associate	29060924
Carcinoma Hepatocellular	Associate	21067840
Carcinoma Non Small Cell Lung	Stimulate	35007184
Carcinoma Ovarian Epithelial	Associate	34215221
Carcinoma Renal Cell	Associate	34868397
Central Nervous System Diseases	Associate	36791193
Clubfoot	Associate	18950742, 20598276, 22258522, 32518174, 36360195
Colorectal Neoplasms	Associate	26381143
Coronary Disease	Associate	26816608
Depressive Disorder Major	Stimulate	29453441
Diabetes Mellitus	Stimulate	26816608
Esotropia	Associate	34044792
Hyperplasia	Inhibit	18186570
Inflammation	Stimulate	34843657
Inflammation	Associate	35263317
Inflammatory Bowel Diseases	Associate	34758847
Intestinal Diseases	Inhibit	18186570
Laurin Sandrow syndrome	Associate	22258522
Leukemia Lymphocytic Chronic B Cell	Associate	24270796
Lower Extremity Deformities Congenital	Associate	18950742, 22258522
Lymphoma Follicular	Associate	40130551
Melanoma Cutaneous Malignant	Associate	27742032
Muscular Dystrophy Facioscapulohumeral	Associate	17984056, 19809486, 34030118
Muscular Dystrophy Facioscapulohumeral	Stimulate	17984056
Neoplasm Metastasis	Inhibit	25936343, 36334221
Neoplasm Metastasis	Associate	32830857
Neoplasms	Associate	18186570, 21067840, 24270796, 29060924, 29425237, 34868397
Neoplasms	Inhibit	21868451, 25936343, 27742032, 31404068, 36334221
Osteoarthritis	Inhibit	27802335
Osteoarthritis Knee	Inhibit	27802335
Osteosarcoma	Inhibit	25936343, 36334221
Ovarian Neoplasms	Associate	34215221
Polydactyly	Associate	22258522, 28488682, 31115189
Polydactyly preaxial type 1	Associate	22258522
Renal Insufficiency Chronic	Associate	34843657
Sarcopenia	Associate	35263317
Scoliosis	Associate	34356068
Spondyloepiphyseal Dysplasia Tarda Autosomal Recessive	Associate	20498720
Squamous Cell Carcinoma of Head and Neck	Associate	29425237
Stomach Neoplasms	Associate	18186570

PITX1 (paired like homeodomain 1)