UniProt functional annotation for Q8TE67



	UniProt functional annotation for Q8TE67

UniProt code: Q8TE67.

Organism: Homo sapiens (Human).

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

Subunit: Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Interacts with FASLG. {ECO:0000269|PubMed:14565974, ECO:0000269|PubMed:19807924}.

Subcellular location: Cytoplasm {ECO:0000269|PubMed:14565974}.

Disease: Hypotrichosis 5 (HYPT5) [MIM:612841]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. {ECO:0000269|PubMed:23099647}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the EPS8 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.


Subunit:		Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Interacts with FASLG. {ECO:0000269\|PubMed:14565974, ECO:0000269\|PubMed:19807924}.
Subcellular location:		Cytoplasm {ECO:0000269\|PubMed:14565974}.
Disease:		Hypotrichosis 5 (HYPT5) [MIM:612841]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT5 is an autosomal dominant form characterized by little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal. {ECO:0000269\|PubMed:23099647}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the EPS8 family. {ECO:0000305}.