Q5BVD1 · TTMP_HUMAN
- ProteinTPA-induced transmembrane protein
- GeneTTMP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids217 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum | |
Cellular Component | plasma membrane |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTPA-induced transmembrane protein
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ5BVD1
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Single-pass type I membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 66-86 | Helical | ||||
Sequence: LWMIITSIFLGVITVIIIGLC |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Hypotrichosis 15 (HYPT15)
- Note
- DescriptionA 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.
- See alsoMIM:620177
Natural variants in HYPT15
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_087942 | 12-217 | missing | in HYPT15; loss of expression in homozygous patient cells | |
VAR_087943 | 164-217 | missing | in HYPT15; reduced expression in homozygous patient cells; does not localize to the cell membrane; decreased interaction with LIPH; results in strongly decreased LIPH-mediated synthesis of 2-acyl lysophosphatidic acid |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_087942 | 12-217 | in HYPT15; loss of expression in homozygous patient cells | |||
Sequence: Missing | ||||||
Natural variant | VAR_059736 | 66 | in dbSNP:rs16859172 | |||
Sequence: L → P | ||||||
Natural variant | VAR_027203 | 111 | in dbSNP:rs16859190 | |||
Sequence: I → V | ||||||
Natural variant | VAR_027204 | 144 | in dbSNP:rs340167 | |||
Sequence: G → S | ||||||
Natural variant | VAR_087943 | 164-217 | in HYPT15; reduced expression in homozygous patient cells; does not localize to the cell membrane; decreased interaction with LIPH; results in strongly decreased LIPH-mediated synthesis of 2-acyl lysophosphatidic acid | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 285 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000248024 | 1-217 | TPA-induced transmembrane protein | |||
Sequence: MDLAQPSQPVDELELSVLERQPEENTPLNGADKVFPSLDEEVPPAEANKESPWSSCNKNVVGRCKLWMIITSIFLGVITVIIIGLCLAAVTYVDEDENEILELSSNKTFFIMLKIPEECVAEEELPHLLTERLTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE |
Proteomic databases
PTM databases
Expression
Tissue specificity
Detected predominantly in the skin, with strongest expression in the inner root sheath of the hair follicle.
Induction
Up-regulated following treatment with 12-O-tetradecanoylphorbol-13-acetate (TPA) in the pancreatic cancer cell line HPAF-II. The up-regulation by TPA is triggered at the promoter level.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with LIPH.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q5BVD1-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length217
- Mass (Da)24,295
- Last updated2011-01-11 v2
- Checksum9240342865DBD743
Q5BVD1-2
- Name2
- Differences from canonical
- 133-217: LTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE → EVGLKPNPEALVGFE
Q5BVD1-3
- Name3
- Differences from canonical
- 133-217: LTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE → NEVMEAGLCLKAVLYQVLEMKGIHSVLQKRFCGLIQKHQQHQRGGDSFLSRFYSLALSPVKQLPSTASAGSSLDKGRKPARVGAIGSAGMSHCWRSLVFCLFLFCFVLFFETGSRSVA
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H7C5J7 | H7C5J7_HUMAN | C3orf52 | 241 |
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 1 | in Ref. 2; BAB15569 | ||||
Sequence: M → V | ||||||
Sequence conflict | 123 | in Ref. 2; BAB15569 | ||||
Sequence: E → K | ||||||
Alternative sequence | VSP_036120 | 133-217 | in isoform 2 | |||
Sequence: LTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE → EVGLKPNPEALVGFE | ||||||
Alternative sequence | VSP_036121 | 133-217 | in isoform 3 | |||
Sequence: LTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE → NEVMEAGLCLKAVLYQVLEMKGIHSVLQKRFCGLIQKHQQHQRGGDSFLSRFYSLALSPVKQLPSTASAGSSLDKGRKPARVGAIGSAGMSHCWRSLVFCLFLFCFVLFFETGSRSVA |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY830714 EMBL· GenBank· DDBJ | AAX21411.1 EMBL· GenBank· DDBJ | mRNA | ||
AK026839 EMBL· GenBank· DDBJ | BAB15569.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK298076 EMBL· GenBank· DDBJ | BAG60364.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK303588 EMBL· GenBank· DDBJ | BAG64604.1 EMBL· GenBank· DDBJ | mRNA | ||
AC024887 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC017064 EMBL· GenBank· DDBJ | AAH17064.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |