UniProt functional annotation for P31271



	UniProt functional annotation for P31271

UniProt code: P31271.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Function: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subunit: Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 (By similarity). {ECO:0000250}.

Subcellular location: Nucleus.

Disease: Hand-foot-genital syndrome (HFG) [MIM:140000]: A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. {ECO:0000269|PubMed:10839976, ECO:0000269|PubMed:12073020, ECO:0000269|PubMed:24934387, ECO:0000269|PubMed:26590955}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. {ECO:0000269|PubMed:11968094}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the Abd-B homeobox family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.



Function:		Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.


Subunit:		Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 (By similarity). {ECO:0000250}.
Subcellular location:		Nucleus.
Disease:		Hand-foot-genital syndrome (HFG) [MIM:140000]: A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. {ECO:0000269\|PubMed:10839976, ECO:0000269\|PubMed:12073020, ECO:0000269\|PubMed:24934387, ECO:0000269\|PubMed:26590955}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. {ECO:0000269\|PubMed:11968094}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the Abd-B homeobox family. {ECO:0000305}.