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

Gene ID: 5307, updated on 2-Nov-2024

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; AllianceGenome:HGNC:9004
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
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Genomic context

See PITX1 in Genome Data Viewer
Location:
5q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (135027734..135034789, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135554747..135561804, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134363424..134369918, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 Neighboring gene MT-ND3 pseudogene 25 Neighboring gene NANOG hESC enhancer GRCh37_chr5:134312555-134313067 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:134325851-134326415 Neighboring gene cation channel sperm associated 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:134360625-134361824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134362037-134362626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134362736-134363421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134364793-134365477 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:134367424-134367631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134368802-134369434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134384389-134384989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134386169-134386753 Neighboring gene PITX1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134401324-134402015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134403398-134404087 Neighboring gene esophagus epithelial intergenic associated transcript Neighboring gene uncharacterized LOC124901072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134470142-134471024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134471025-134471907

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Clubfoot
MedGen: C0009081 OMIM: 119800 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in branchiomeric skeletal muscle development IEA
Inferred from Electronic Annotation
more info
 
involved_in cartilage development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in myoblast fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator 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)

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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
    5047..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
    A8K3M0, D3DQB0, O14677, O60425, P78337, Q9BTI5
    UniProtKB/TrEMBL
    X5D9A5
    Related
    ENSP00000265340.6, ENST00000265340.12
    Conserved Domains (3) summary
    COG5576
    Location:36146
    COG5576; Homeodomain-containing transcription factor [Transcription]
    pfam00046
    Location:93146
    Homeobox; Homeobox domain
    pfam03826
    Location:276293
    OAR; OAR domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    135027734..135034789 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417318.1XP_047273274.1  pituitary homeobox 1 isoform X1

  2. XM_047417319.1XP_047273275.1  pituitary homeobox 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    135554747..135561804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352830.1XP_054208805.1  pituitary homeobox 1 isoform X1