Q12767 · TMM94_HUMAN
- ProteinTransmembrane protein 94
- GeneTMEM94
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1356 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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 membrane | |
Molecular Function | P-type magnesium transporter activity | |
Biological Process | intracellular magnesium ion homeostasis | |
Biological Process | magnesium ion transport from cytosol to endoplasmic reticulum |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameTransmembrane protein 94
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ12767
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-64 | Cytoplasmic | ||||
Sequence: MDLKEKHLGEPPSALGLSTRKALSVLKEQLEAVLEGHLRERKKCLTWKEVWRSSFLHHSNRCSC | ||||||
Transmembrane | 65-85 | Helical | ||||
Sequence: FHWPGASLMLLAVLLLLGCCG | ||||||
Topological domain | 86-92 | Lumenal | ||||
Sequence: GQPAGSR | ||||||
Transmembrane | 93-113 | Helical | ||||
Sequence: GVGLVNASALFLLLLLNLVLI | ||||||
Topological domain | 114-273 | Cytoplasmic | ||||
Sequence: GRQDRLKRREVERRLRGIIDQIQDALRDGREIQWPSAMYPDLHMPFAPSWSLHWAYRDGHLVNLPVSLLVEGDIIALRPGQESFASLRGIKDDEHIVLEPGDLFPPFSPPPSPRGEVERGPQSPQQHRLFRVLETPVIDNIRWCLDMALSRPVTALDNER | ||||||
Transmembrane | 274-294 | Helical | ||||
Sequence: FTVQSVMLHYAVPVVLAGFLI | ||||||
Topological domain | 295-320 | Lumenal | ||||
Sequence: TNALRFIFSAPGVTSWQYTLLQLQVN | ||||||
Transmembrane | 321-341 | Helical | ||||
Sequence: GVLPILPLLFPVLWVLATACG | ||||||
Topological domain | 342-1092 | Cytoplasmic | ||||
Sequence: EARVLAQMSKASPSSLLAKFSEDTLSSYTEAVSSQEMLRCIWGHFLRVLGGTSPTLSHSSSLLHSLGSVTVLCCVDKQGILSWPNPSPETVLFFSGKVEPPHSSHEDLTDGLSTRSFCHPEPHERDALLAGSLNNTLHLSNEQERGDWPGEAPKPPEPYSHHKAHGRSKHPSGSNVSFSRDTEGGEEEPSKTQPGMESDPYEAEDFVCDYHLEMLSLSQDQQNPSCIQFDDSNWQLHLTSLKPLGLNVLLNLCDASVTERLCRFSDHLCNIALQESHSAVLPVHVPWGLCELARLIGFTPGAKELFKQENHLALYRLPSAETMKETSLGRLSCVTKRRPPLSHMISLFIKDTTTSTEQMLSHGTADVVLEACTDFWDGADIYPLSGSDRKKVLDFYQRACLSGYCSAFAYKPMNCALSSQLNGKCIELVQVPGQSSIFTMCELPSTIPIKQNARRSSWSSDEGIGEVLEKEDCMQALSGQIFMGMVSSQYQARLDIVRLIDGLVNACIRFVYFSLEDELKSKVFAEKMGLETGWNCHISLTPNGDMPGSEIPPSSPSHAGSLHDDLNQVSRDDAEGLLLMEEEGHSDLISFQPTDSDIPSFLEDSNRAKLPRGIHQVRPHLQNIDNVPLLVPLFTDCTPETMCEMIKIMQEYGEVTCCLGSSANLRNSCLFLQSDISIALDPLYPSRCSWETFGYATSISMAQASDGLSPLQLSGQLNSLPCSLTFRQEETISIIRLIEQARHATYGIRKC | ||||||
Transmembrane | 1093-1113 | Helical | ||||
Sequence: FLFLLQCQLTLVVIQFLSCLV | ||||||
Topological domain | 1114-1120 | Lumenal | ||||
Sequence: QLPPLLS | ||||||
Transmembrane | 1121-1141 | Helical | ||||
Sequence: TTDILWLSCFCYPLLSISLLG | ||||||
Topological domain | 1142-1167 | Cytoplasmic | ||||
Sequence: KPPHSSIMSMATGKNLQSIPKKTQHY | ||||||
Transmembrane | 1168-1188 | Helical | ||||
Sequence: FLLCFLLKFSLTISSCLICFG | ||||||
Topological domain | 1189-1228 | Lumenal | ||||
Sequence: FTLQSFCDSSRDRNLTNCSSVMLPSNDDRAPAWFEDFANG | ||||||
Transmembrane | 1229-1249 | Helical | ||||
Sequence: LLSAQKLTAALIVLHTVFISI | ||||||
Topological domain | 1250-1261 | Cytoplasmic | ||||
Sequence: THVHRTKPLWRK | ||||||
Transmembrane | 1262-1282 | Helical | ||||
Sequence: SPLTNLWWAVTVPVVLLGQVV | ||||||
Topological domain | 1283-1306 | Lumenal | ||||
Sequence: QTAVDLQLWTHRDSHVHFGLEDVP | ||||||
Transmembrane | 1307-1327 | Helical | ||||
Sequence: LLTWLLGCLSLVLVVVTNEIV | ||||||
Topological domain | 1328-1356 | Cytoplasmic | ||||
Sequence: KLHEIRVRVRYQKRQKLQFETKLGMNSPF |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF)
- Note
- DescriptionAn autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, congenital heart malformations, and facial dysmorphism. Dysmorphic features include triangular face, deep set eyes, broad nasal root and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism.
- See alsoMIM:618316
Natural variants in IDDCDF
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081637 | 912-1356 | missing | in IDDCDF |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 417-418 | Loss of function in magnesium transport. | ||||
Sequence: DK → AN | ||||||
Natural variant | VAR_081637 | 912-1356 | in IDDCDF | |||
Sequence: Missing | ||||||
Natural variant | VAR_019508 | 1040 | in dbSNP:rs8073809 | |||
Sequence: I → T | ||||||
Mutagenesis | 1132 | Loss of function in magnesium transport. | ||||
Sequence: Y → A | ||||||
Mutagenesis | 1351-1353 | Loss of function in magnesium transport. Increased degradation. No effect on homooligomerization. | ||||
Sequence: GMN → IKL | ||||||
Mutagenesis | 1353 | No effect on function in magnesium transport. | ||||
Sequence: N → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,546 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, modified residue, modified residue (large scale data), glycosylation.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000050731 | 1-1356 | UniProt | Transmembrane protein 94 | |||
Sequence: MDLKEKHLGEPPSALGLSTRKALSVLKEQLEAVLEGHLRERKKCLTWKEVWRSSFLHHSNRCSCFHWPGASLMLLAVLLLLGCCGGQPAGSRGVGLVNASALFLLLLLNLVLIGRQDRLKRREVERRLRGIIDQIQDALRDGREIQWPSAMYPDLHMPFAPSWSLHWAYRDGHLVNLPVSLLVEGDIIALRPGQESFASLRGIKDDEHIVLEPGDLFPPFSPPPSPRGEVERGPQSPQQHRLFRVLETPVIDNIRWCLDMALSRPVTALDNERFTVQSVMLHYAVPVVLAGFLITNALRFIFSAPGVTSWQYTLLQLQVNGVLPILPLLFPVLWVLATACGEARVLAQMSKASPSSLLAKFSEDTLSSYTEAVSSQEMLRCIWGHFLRVLGGTSPTLSHSSSLLHSLGSVTVLCCVDKQGILSWPNPSPETVLFFSGKVEPPHSSHEDLTDGLSTRSFCHPEPHERDALLAGSLNNTLHLSNEQERGDWPGEAPKPPEPYSHHKAHGRSKHPSGSNVSFSRDTEGGEEEPSKTQPGMESDPYEAEDFVCDYHLEMLSLSQDQQNPSCIQFDDSNWQLHLTSLKPLGLNVLLNLCDASVTERLCRFSDHLCNIALQESHSAVLPVHVPWGLCELARLIGFTPGAKELFKQENHLALYRLPSAETMKETSLGRLSCVTKRRPPLSHMISLFIKDTTTSTEQMLSHGTADVVLEACTDFWDGADIYPLSGSDRKKVLDFYQRACLSGYCSAFAYKPMNCALSSQLNGKCIELVQVPGQSSIFTMCELPSTIPIKQNARRSSWSSDEGIGEVLEKEDCMQALSGQIFMGMVSSQYQARLDIVRLIDGLVNACIRFVYFSLEDELKSKVFAEKMGLETGWNCHISLTPNGDMPGSEIPPSSPSHAGSLHDDLNQVSRDDAEGLLLMEEEGHSDLISFQPTDSDIPSFLEDSNRAKLPRGIHQVRPHLQNIDNVPLLVPLFTDCTPETMCEMIKIMQEYGEVTCCLGSSANLRNSCLFLQSDISIALDPLYPSRCSWETFGYATSISMAQASDGLSPLQLSGQLNSLPCSLTFRQEETISIIRLIEQARHATYGIRKCFLFLLQCQLTLVVIQFLSCLVQLPPLLSTTDILWLSCFCYPLLSISLLGKPPHSSIMSMATGKNLQSIPKKTQHYFLLCFLLKFSLTISSCLICFGFTLQSFCDSSRDRNLTNCSSVMLPSNDDRAPAWFEDFANGLLSAQKLTAALIVLHTVFISITHVHRTKPLWRKSPLTNLWWAVTVPVVLLGQVVQTAVDLQLWTHRDSHVHFGLEDVPLLTWLLGCLSLVLVVVTNEIVKLHEIRVRVRYQKRQKLQFETKLGMNSPF | |||||||
Modified residue | 221 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 221 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 225 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 225 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 368 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 444 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 444 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 445 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 445 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 450 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue | 454 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 454 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 457 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 513 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 513 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 515 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 518 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 518 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 798 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 798 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 800 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 801 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 941 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Glycosylation | 1202 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 1205 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for motif, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Motif | 417-422 | DKQGIL | ||||
Sequence: DKQGIL | ||||||
Region | 439-461 | Disordered | ||||
Sequence: VEPPHSSHEDLTDGLSTRSFCHP | ||||||
Region | 483-541 | Disordered | ||||
Sequence: EQERGDWPGEAPKPPEPYSHHKAHGRSKHPSGSNVSFSRDTEGGEEEPSKTQPGMESDP | ||||||
Compositional bias | 485-503 | Basic and acidic residues | ||||
Sequence: ERGDWPGEAPKPPEPYSHH | ||||||
Motif | 1351-1353 | GMN; metal-binding motif | ||||
Sequence: GMN |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q12767-1
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
- Length1,356
- Mass (Da)151,151
- Last updated1997-11-01 v1
- Checksum9DC0188CEE81F494
Q12767-2
- Name2
- Differences from canonical
- 1244-1244: T → TGERAPWEGVDDGGKGAPLWKSDPHIAPPSP
Q12767-3
- Name3
- Differences from canonical
- 1-9: MDLKEKHLG → MLFKQAELWMPHQGKGNKG
Computationally mapped potential isoform sequences
There are 14 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
J3KRN3 | J3KRN3_HUMAN | TMEM94 | 1352 | ||
J3KRU7 | J3KRU7_HUMAN | TMEM94 | 57 | ||
J3KS76 | J3KS76_HUMAN | TMEM94 | 162 | ||
J3KT63 | J3KT63_HUMAN | TMEM94 | 35 | ||
J3KTL5 | J3KTL5_HUMAN | TMEM94 | 176 | ||
J3QLM7 | J3QLM7_HUMAN | TMEM94 | 125 | ||
J3QLC5 | J3QLC5_HUMAN | TMEM94 | 1340 | ||
A0A994J4Z6 | A0A994J4Z6_HUMAN | TMEM94 | 1316 | ||
J3QRY7 | J3QRY7_HUMAN | TMEM94 | 1330 | ||
J3QS17 | J3QS17_HUMAN | TMEM94 | 121 | ||
J3QRT3 | J3QRT3_HUMAN | TMEM94 | 88 | ||
J3QRT7 | J3QRT7_HUMAN | TMEM94 | 73 | ||
J3QS24 | J3QS24_HUMAN | TMEM94 | 56 | ||
J3QSG7 | J3QSG7_HUMAN | TMEM94 | 1360 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_060138 | 1-9 | in isoform 3 | |||
Sequence: MDLKEKHLG → MLFKQAELWMPHQGKGNKG | ||||||
Sequence conflict | 203 | in Ref. 3; AAH45540 | ||||
Sequence: I → M | ||||||
Compositional bias | 485-503 | Basic and acidic residues | ||||
Sequence: ERGDWPGEAPKPPEPYSHH | ||||||
Sequence conflict | 991 | in Ref. 3; AAH45540 | ||||
Sequence: Q → L | ||||||
Alternative sequence | VSP_011043 | 1244 | in isoform 2 | |||
Sequence: T → TGERAPWEGVDDGGKGAPLWKSDPHIAPPSP |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
D83779 EMBL· GenBank· DDBJ | BAA12108.2 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BC045540 EMBL· GenBank· DDBJ | AAH45540.1 EMBL· GenBank· DDBJ | mRNA | ||
AC100787 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
KF456321 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AF070545 EMBL· GenBank· DDBJ | AAC28636.1 EMBL· GenBank· DDBJ | mRNA |