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PITX1 (paired like homeodomain 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5307
Gene nameGene Name - the full gene name approved by the HGNC.
Paired like homeodomain 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PITX1
SynonymsGene synonyms aliases
BFT, CCF, LBNBG, POTX, PTX1
ChromosomeChromosome number
5
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
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
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:0001085 Function RNA polymerase II transcription factor binding IPI 26612202
Other IDsOther 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
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 18053270
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Clubfoot Familial clubfoot due to PITX1 point mutation, Familial clubfoot due to 5q31 microdeletion rs121909109, rs730882191
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Brachydactyly with joint dysplasia Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 23022097, 23587911
Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome rs479632
Camptodactyly of fingers Clinodactyly of the 5th finger
Congenital clubfoot Congenital clubfoot 18950742, 22258522, 23022097, 23587911

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