TTMP
entrez
79669
canonical
uniprot
Q5BVD1
canonical
ensembl
ENSG00000114529
resolver
ensp
ENSP00000264848
resolver
ensp
ENSP00000399392
resolver
genesymbol
TTMP
resolver
genesymbol_syn
C3orf52
resolver
hgnc
HGNC:26255
resolver
uniprot
B4DNV2
resolver
uniprot
B4E0Z2
resolver
uniprot
Q96AJ4
resolver
uniprot
Q9H5Q1
resolver
uniprot_entry
TTMP_HUMAN
resolver
uniprot_sec
B4DNV2
resolver
uniprot_sec
B4E0Z2
resolver
uniprot_sec
Q96AJ4
resolver
uniprot_sec
Q9H5Q1
resolver
amino_acid_sequence
MDLAQPSQPVDELELSVLERQPEENTPLNGADKVFPSLDEEVPPAEANKESPWSSCNKNVVGRCKLWMIITSIFLGVITVIIIGLCLAAVTYVDEDENEILELSSNKTFFIMLKIPEECVAEEELPHLLTERLTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 15 (HYPT15) [MIM:620177]: 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. HYPT15 is an autosomal recessive form characterized by sparse to absent scalp and body hair. Eyebrows and eyelashes may be sparse or absent as well. {ECO:0000269|PubMed:32336749, ECO:0000269|PubMed:34309526}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has a role in LIPH-mediated synthesis of 2-acyl lysophosphatidic acid (LPA). LPA is a bioactive lipid mediator involved in different biological processes, and necessary to promote hair formation and growth. {ECO:0000269|PubMed:32336749}.
uniprot
proteins
mass_dalton
24295
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15737651
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
32336749
uniprot
proteins
pubmed
34309526
uniprot
proteins
sequence_length
217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:32336749}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 66..86; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins