The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009]
Function:
Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF-dependent cardiac-specific genes and cardiac development. Prevents SRF-dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed. Expressed in the heart, brain, placenta, lung, skeletal and smooth muscles, uterus, urinary bladder, kidney and spleen. Down-regulated in some types of cancer such as lung cancer, choriocarcinoma, head and neck squamous cell carcinoma and oral squamous cell carcinoma.
Similarity:
Contains 1 homeobox DNA-binding domain.
SWISS:
Q9BPY8
Gene ID:
84525
Database links:
Entrez Gene: 281270 Cow
Entrez Gene: 84525 Human
Entrez Gene: 74318 Mouse
Entrez Gene: 396692 Pig
Entrez Gene: 171160 Rat
Omim: 607275 Human
SwissProt: Q8MJD5 Cow
SwissProt: Q9BPY8 Human
SwissProt: Q8R1H0 Mouse
SwissProt: Q8MJD6 Pig
SwissProt: Q78ZR5 Rat
Unigene: 619396 Human
Unigene: 181852 Mouse
Unigene: 478741 Mouse
Unigene: 2989 Rat
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