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PITX1 paired like homeodomain 1 [ Homo sapiens (human) ]

Gene ID: 5307, updated on 23-Dec-2018

Summary

Official Symbol
PITX1provided by HGNC
Official Full Name
paired like homeodomain 1provided by HGNC
Primary source
HGNC:HGNC:9004
See related
Ensembl:ENSG00000069011 MIM:602149
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BFT; CCF; POTX; PTX1; LBNBG
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 in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 52.6), salivary gland (RPKM 12.7) and 6 other tissues See more
Orthologs

Genomic context

See PITX1 in Genome Data Viewer
Location:
5q31.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (135027734..135034274, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134363424..134369964, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated 3 Neighboring gene uncharacterized LOC107986452 Neighboring gene C5orf66 antisense RNA 1 Neighboring gene chromosome 5 open reading frame 66 Neighboring gene uncharacterized LOC105379188

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Liebenberg syndrome
MedGen: C1861313 OMIM: 186550 GeneReviews: Not available
Compare labs
Talipes equinovarus
MedGen: C0009081 OMIM: 119800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
NHGRI GWA Catalog
Genetic variants associated with disordered eating.
NHGRI GWA Catalog
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
NHGRI GWA Catalog
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
branchiomeric skeletal muscle development IEA
Inferred from Electronic Annotation
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
myoblast fate commitment IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pituitary homeobox 1
Names
hindlimb expressed homeobox protein backfoot
homeobox protein PITX1
paired-like homeodomain transcription factor 1
pituitary homeo box 1
pituitary otx-related factor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012114.1 RefSeqGene

    Range
    5001..11541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002653.5NP_002644.4  pituitary homeobox 1

    See identical proteins and their annotated locations for NP_002644.4

    Status: REVIEWED

    Source sequence(s)
    AC008406, BC009412, BX362641
    Consensus CDS
    CCDS4182.1
    UniProtKB/Swiss-Prot
    P78337
    UniProtKB/TrEMBL
    X5D9A5
    Related
    ENSP00000265340.6, ENST00000265340.11
    Conserved Domains (4) summary
    pfam00046
    Location:93145
    Homeobox; Homeobox domain
    pfam03826
    Location:276293
    OAR; OAR domain
    pfam08430
    Location:195274
    Forkhead_N; Forkhead N-terminal region
    cl27820
    Location:36146
    Abdominal-A; Homeobox protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    135027734..135034274 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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