UniProtKB - Q12767 (TMM94_HUMAN)
Protein
Transmembrane protein 94
Gene
TMEM94
Organism
Homo sapiens (Human)
Status
Functioni
Enzyme and pathway databases
PathwayCommonsi | Q12767 |
Protein family/group databases
TCDBi | 3.A.3.2.47, the p-type atpase (p-atpase) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: Transmembrane protein 94Imported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28983, TMEM94 |
MIMi | 618163, gene |
neXtProti | NX_Q12767 |
VEuPathDBi | HostDB:ENSG00000177728.14 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Sequence analysis
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 65 – 85 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 93 – 113 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 274 – 294 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 321 – 341 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1093 – 1113 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1121 – 1141 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1168 – 1188 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1229 – 1249 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1262 – 1282 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1307 – 1327 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081637 | 912 – 1356 | Missing in IDDCDF. 1 PublicationAdd BLAST | 445 |
Keywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 9772 |
MalaCardsi | TMEM94 |
MIMi | 618316, phenotype |
OpenTargetsi | ENSG00000177728 |
Orphaneti | 562569, TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
PharmGKBi | PA142671623 |
Miscellaneous databases
Pharosi | Q12767, Tdark |
Genetic variation databases
BioMutai | TMEM94 |
DMDMi | 2495718 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000050731 | 1 – 1356 | Transmembrane protein 94Add BLAST | 1356 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 221 | PhosphoserineCombined sources | 1 | |
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 444 | PhosphoserineCombined sources | 1 | |
Modified residuei | 445 | PhosphoserineCombined sources | 1 | |
Modified residuei | 454 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 475 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 513 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 516 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 518 | PhosphoserineCombined sources | 1 | |
Modified residuei | 798 | PhosphoserineCombined sources | 1 | |
Modified residuei | 941 | PhosphoserineCombined sources | 1 | |
Glycosylationi | 1202 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1205 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q12767 |
jPOSTi | Q12767 |
MassIVEi | Q12767 |
MaxQBi | Q12767 |
PaxDbi | Q12767 |
PeptideAtlasi | Q12767 |
PRIDEi | Q12767 |
ProteomicsDBi | 10665 58909 [Q12767-1] 58910 [Q12767-2] |
PTM databases
GlyGeni | Q12767, 4 sites |
iPTMneti | Q12767 |
PhosphoSitePlusi | Q12767 |
Expressioni
Tissue specificityi
Expressed ubiquitously.1 Publication
Gene expression databases
Bgeei | ENSG00000177728, Expressed in right adrenal gland and 219 other tissues |
ExpressionAtlasi | Q12767, baseline and differential |
Genevisiblei | Q12767, HS |
Organism-specific databases
HPAi | ENSG00000177728, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115117, 13 interactors |
IntActi | Q12767, 12 interactors |
MINTi | Q12767 |
STRINGi | 9606.ENSP00000313885 |
Miscellaneous databases
RNActi | Q12767, protein |
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4383, Eukaryota |
GeneTreei | ENSGT00390000016550 |
InParanoidi | Q12767 |
OMAi | PDLVCCL |
OrthoDBi | 97547at2759 |
PhylomeDBi | Q12767 |
TreeFami | TF314852 |
Family and domain databases
InterProi | View protein in InterPro IPR023298, ATPase_P-typ_TM_dom_sf IPR039720, TMEM94 |
PANTHERi | PTHR13219, PTHR13219, 1 hit |
SUPFAMi | SSF81665, SSF81665, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q12767-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDLKEKHLGE PPSALGLSTR KALSVLKEQL EAVLEGHLRE RKKCLTWKEV
60 70 80 90 100
WRSSFLHHSN RCSCFHWPGA SLMLLAVLLL LGCCGGQPAG SRGVGLVNAS
110 120 130 140 150
ALFLLLLLNL VLIGRQDRLK RREVERRLRG IIDQIQDALR DGREIQWPSA
160 170 180 190 200
MYPDLHMPFA PSWSLHWAYR DGHLVNLPVS LLVEGDIIAL RPGQESFASL
210 220 230 240 250
RGIKDDEHIV LEPGDLFPPF SPPPSPRGEV ERGPQSPQQH RLFRVLETPV
260 270 280 290 300
IDNIRWCLDM ALSRPVTALD NERFTVQSVM LHYAVPVVLA GFLITNALRF
310 320 330 340 350
IFSAPGVTSW QYTLLQLQVN GVLPILPLLF PVLWVLATAC GEARVLAQMS
360 370 380 390 400
KASPSSLLAK FSEDTLSSYT EAVSSQEMLR CIWGHFLRVL GGTSPTLSHS
410 420 430 440 450
SSLLHSLGSV TVLCCVDKQG ILSWPNPSPE TVLFFSGKVE PPHSSHEDLT
460 470 480 490 500
DGLSTRSFCH PEPHERDALL AGSLNNTLHL SNEQERGDWP GEAPKPPEPY
510 520 530 540 550
SHHKAHGRSK HPSGSNVSFS RDTEGGEEEP SKTQPGMESD PYEAEDFVCD
560 570 580 590 600
YHLEMLSLSQ DQQNPSCIQF DDSNWQLHLT SLKPLGLNVL LNLCDASVTE
610 620 630 640 650
RLCRFSDHLC NIALQESHSA VLPVHVPWGL CELARLIGFT PGAKELFKQE
660 670 680 690 700
NHLALYRLPS AETMKETSLG RLSCVTKRRP PLSHMISLFI KDTTTSTEQM
710 720 730 740 750
LSHGTADVVL EACTDFWDGA DIYPLSGSDR KKVLDFYQRA CLSGYCSAFA
760 770 780 790 800
YKPMNCALSS QLNGKCIELV QVPGQSSIFT MCELPSTIPI KQNARRSSWS
810 820 830 840 850
SDEGIGEVLE KEDCMQALSG QIFMGMVSSQ YQARLDIVRL IDGLVNACIR
860 870 880 890 900
FVYFSLEDEL KSKVFAEKMG LETGWNCHIS LTPNGDMPGS EIPPSSPSHA
910 920 930 940 950
GSLHDDLNQV SRDDAEGLLL MEEEGHSDLI SFQPTDSDIP SFLEDSNRAK
960 970 980 990 1000
LPRGIHQVRP HLQNIDNVPL LVPLFTDCTP ETMCEMIKIM QEYGEVTCCL
1010 1020 1030 1040 1050
GSSANLRNSC LFLQSDISIA LDPLYPSRCS WETFGYATSI SMAQASDGLS
1060 1070 1080 1090 1100
PLQLSGQLNS LPCSLTFRQE ETISIIRLIE QARHATYGIR KCFLFLLQCQ
1110 1120 1130 1140 1150
LTLVVIQFLS CLVQLPPLLS TTDILWLSCF CYPLLSISLL GKPPHSSIMS
1160 1170 1180 1190 1200
MATGKNLQSI PKKTQHYFLL CFLLKFSLTI SSCLICFGFT LQSFCDSSRD
1210 1220 1230 1240 1250
RNLTNCSSVM LPSNDDRAPA WFEDFANGLL SAQKLTAALI VLHTVFISIT
1260 1270 1280 1290 1300
HVHRTKPLWR KSPLTNLWWA VTVPVVLLGQ VVQTAVDLQL WTHRDSHVHF
1310 1320 1330 1340 1350
GLEDVPLLTW LLGCLSLVLV VVTNEIVKLH EIRVRVRYQK RQKLQFETKL
GMNSPF
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3QQW3 | J3QQW3_HUMAN | Transmembrane protein 94 | TMEM94 | 1,007 | Annotation score: | ||
J3QRY7 | J3QRY7_HUMAN | Transmembrane protein 94 | TMEM94 | 295 | Annotation score: | ||
J3KRN3 | J3KRN3_HUMAN | Transmembrane protein 94 | TMEM94 | 128 | Annotation score: | ||
J3QSG7 | J3QSG7_HUMAN | Transmembrane protein 94 | TMEM94 | 256 | Annotation score: | ||
J3KTL5 | J3KTL5_HUMAN | Transmembrane protein 94 | TMEM94 | 176 | Annotation score: | ||
J3QLC5 | J3QLC5_HUMAN | Transmembrane protein 94 | TMEM94 | 302 | Annotation score: | ||
J3QS17 | J3QS17_HUMAN | Transmembrane protein 94 | TMEM94 | 121 | Annotation score: | ||
J3QLM7 | J3QLM7_HUMAN | Transmembrane protein 94 | TMEM94 | 125 | Annotation score: | ||
J3KS76 | J3KS76_HUMAN | Transmembrane protein 94 | TMEM94 | 162 | Annotation score: | ||
J3QRT7 | J3QRT7_HUMAN | Transmembrane protein 94 | TMEM94 | 73 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
The sequence BAA12108 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 203 | I → M in AAH45540 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 991 | Q → L in AAH45540 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081637 | 912 – 1356 | Missing in IDDCDF. 1 PublicationAdd BLAST | 445 | |
Natural variantiVAR_019508 | 1040 | I → T. Corresponds to variant dbSNP:rs8073809Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_060138 | 1 – 9 | MDLKEKHLG → MLFKQAELWMPHQGKGNKG in isoform 3. | 9 | |
Alternative sequenceiVSP_011043 | 1244 | T → TGERAPWEGVDDGGKGAPLW KSDPHIAPPSP in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D83779 mRNA Translation: BAA12108.2 Different initiation. BC045540 mRNA Translation: AAH45540.1 AC100787 Genomic DNA No translation available. KF456321 Genomic DNA No translation available. AF070545 mRNA Translation: AAC28636.1 |
CCDSi | CCDS32732.1 [Q12767-1] CCDS82204.1 [Q12767-3] |
RefSeqi | NP_001308077.1, NM_001321148.1 [Q12767-3] NP_001308078.1, NM_001321149.1 NP_055553.3, NM_014738.5 [Q12767-1] |
Genome annotation databases
Ensembli | ENST00000314256; ENSP00000313885; ENSG00000177728 [Q12767-1] ENST00000375248; ENSP00000364397; ENSG00000177728 [Q12767-3] |
GeneIDi | 9772 |
KEGGi | hsa:9772 |
UCSCi | uc002jnz.5, human [Q12767-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D83779 mRNA Translation: BAA12108.2 Different initiation. BC045540 mRNA Translation: AAH45540.1 AC100787 Genomic DNA No translation available. KF456321 Genomic DNA No translation available. AF070545 mRNA Translation: AAC28636.1 |
CCDSi | CCDS32732.1 [Q12767-1] CCDS82204.1 [Q12767-3] |
RefSeqi | NP_001308077.1, NM_001321148.1 [Q12767-3] NP_001308078.1, NM_001321149.1 NP_055553.3, NM_014738.5 [Q12767-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115117, 13 interactors |
IntActi | Q12767, 12 interactors |
MINTi | Q12767 |
STRINGi | 9606.ENSP00000313885 |
Protein family/group databases
TCDBi | 3.A.3.2.47, the p-type atpase (p-atpase) superfamily |
PTM databases
GlyGeni | Q12767, 4 sites |
iPTMneti | Q12767 |
PhosphoSitePlusi | Q12767 |
Genetic variation databases
BioMutai | TMEM94 |
DMDMi | 2495718 |
Proteomic databases
EPDi | Q12767 |
jPOSTi | Q12767 |
MassIVEi | Q12767 |
MaxQBi | Q12767 |
PaxDbi | Q12767 |
PeptideAtlasi | Q12767 |
PRIDEi | Q12767 |
ProteomicsDBi | 10665 58909 [Q12767-1] 58910 [Q12767-2] |
Protocols and materials databases
Antibodypediai | 19552, 28 antibodies |
Genome annotation databases
Ensembli | ENST00000314256; ENSP00000313885; ENSG00000177728 [Q12767-1] ENST00000375248; ENSP00000364397; ENSG00000177728 [Q12767-3] |
GeneIDi | 9772 |
KEGGi | hsa:9772 |
UCSCi | uc002jnz.5, human [Q12767-1] |
Organism-specific databases
CTDi | 9772 |
DisGeNETi | 9772 |
GeneCardsi | TMEM94 |
HGNCi | HGNC:28983, TMEM94 |
HPAi | ENSG00000177728, Low tissue specificity |
MalaCardsi | TMEM94 |
MIMi | 618163, gene 618316, phenotype |
neXtProti | NX_Q12767 |
OpenTargetsi | ENSG00000177728 |
Orphaneti | 562569, TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
PharmGKBi | PA142671623 |
VEuPathDBi | HostDB:ENSG00000177728.14 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4383, Eukaryota |
GeneTreei | ENSGT00390000016550 |
InParanoidi | Q12767 |
OMAi | PDLVCCL |
OrthoDBi | 97547at2759 |
PhylomeDBi | Q12767 |
TreeFami | TF314852 |
Enzyme and pathway databases
PathwayCommonsi | Q12767 |
Miscellaneous databases
BioGRID-ORCSi | 9772, 14 hits in 879 CRISPR screens |
ChiTaRSi | TMEM94, human |
GenomeRNAii | 9772 |
Pharosi | Q12767, Tdark |
PROi | PR:Q12767 |
RNActi | Q12767, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177728, Expressed in right adrenal gland and 219 other tissues |
ExpressionAtlasi | Q12767, baseline and differential |
Genevisiblei | Q12767, HS |
Family and domain databases
InterProi | View protein in InterPro IPR023298, ATPase_P-typ_TM_dom_sf IPR039720, TMEM94 |
PANTHERi | PTHR13219, PTHR13219, 1 hit |
SUPFAMi | SSF81665, SSF81665, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TMM94_HUMAN | |
Accessioni | Q12767Primary (citable) accession number: Q12767 Secondary accession number(s): C9JL75, O75536, Q86XF1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | February 10, 2021 | |
This is version 146 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants