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Entry version 146 (10 Feb 2021)
Sequence version 1 (01 Nov 1997)
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Protein

Transmembrane protein 94

Gene

TMEM94

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q12767

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.3.2.47, the p-type atpase (p-atpase) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane protein 94Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMEM94Imported
Synonyms:KIAA0195
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28983, TMEM94

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
618163, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12767

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000177728.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei65 – 85HelicalSequence analysisAdd BLAST21
Transmembranei93 – 113HelicalSequence analysisAdd BLAST21
Transmembranei274 – 294HelicalSequence analysisAdd BLAST21
Transmembranei321 – 341HelicalSequence analysisAdd BLAST21
Transmembranei1093 – 1113HelicalSequence analysisAdd BLAST21
Transmembranei1121 – 1141HelicalSequence analysisAdd BLAST21
Transmembranei1168 – 1188HelicalSequence analysisAdd BLAST21
Transmembranei1229 – 1249HelicalSequence analysisAdd BLAST21
Transmembranei1262 – 1282HelicalSequence analysisAdd BLAST21
Transmembranei1307 – 1327HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081637912 – 1356Missing in IDDCDF. 1 PublicationAdd BLAST445

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9772

MalaCards human disease database

More...
MalaCardsi
TMEM94
MIMi618316, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000177728

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
562569, TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671623

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q12767, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM94

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2495718

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000507311 – 1356Transmembrane protein 94Add BLAST1356

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei221PhosphoserineCombined sources1
Modified residuei225PhosphoserineCombined sources1
Modified residuei444PhosphoserineCombined sources1
Modified residuei445PhosphoserineCombined sources1
Modified residuei454PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi475N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei513PhosphoserineCombined sources1
Glycosylationi516N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei518PhosphoserineCombined sources1
Modified residuei798PhosphoserineCombined sources1
Modified residuei941PhosphoserineCombined sources1
Glycosylationi1202N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1205N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q12767

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q12767

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q12767

MaxQB - The MaxQuant DataBase

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MaxQBi
Q12767

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q12767

PeptideAtlas

More...
PeptideAtlasi
Q12767

PRoteomics IDEntifications database

More...
PRIDEi
Q12767

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
10665
58909 [Q12767-1]
58910 [Q12767-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q12767, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q12767

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q12767

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed ubiquitously.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000177728, Expressed in right adrenal gland and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q12767, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12767, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000177728, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115117, 13 interactors

Protein interaction database and analysis system

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IntActi
Q12767, 12 interactors

Molecular INTeraction database

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MINTi
Q12767

STRING: functional protein association networks

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STRINGi
9606.ENSP00000313885

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q12767, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4383, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000016550

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12767

Identification of Orthologs from Complete Genome Data

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OMAi
PDLVCCL

Database of Orthologous Groups

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OrthoDBi
97547at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q12767

TreeFam database of animal gene trees

More...
TreeFami
TF314852

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR023298, ATPase_P-typ_TM_dom_sf
IPR039720, TMEM94

The PANTHER Classification System

More...
PANTHERi
PTHR13219, PTHR13219, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81665, SSF81665, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:1,356
Mass (Da):151,151
Last modified:November 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9DC0188CEE81F494
GO
Isoform 2 (identifier: Q12767-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1244-1244: T → TGERAPWEGVDDGGKGAPLWKSDPHIAPPSP

Show »
Length:1,386
Mass (Da):154,257
Checksum:i7958222BFF279C8D
GO
Isoform 3 (identifier: Q12767-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MDLKEKHLG → MLFKQAELWMPHQGKGNKG

Show »
Length:1,366
Mass (Da):152,281
Checksum:iD3A6A2E083615462
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QQW3J3QQW3_HUMAN
Transmembrane protein 94
TMEM94
1,007Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRY7J3QRY7_HUMAN
Transmembrane protein 94
TMEM94
295Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRN3J3KRN3_HUMAN
Transmembrane protein 94
TMEM94
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QSG7J3QSG7_HUMAN
Transmembrane protein 94
TMEM94
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KTL5J3KTL5_HUMAN
Transmembrane protein 94
TMEM94
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QLC5J3QLC5_HUMAN
Transmembrane protein 94
TMEM94
302Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QS17J3QS17_HUMAN
Transmembrane protein 94
TMEM94
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QLM7J3QLM7_HUMAN
Transmembrane protein 94
TMEM94
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KS76J3KS76_HUMAN
Transmembrane protein 94
TMEM94
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRT7J3QRT7_HUMAN
Transmembrane protein 94
TMEM94
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA12108 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti203I → M in AAH45540 (PubMed:15489334).Curated1
Sequence conflicti991Q → L in AAH45540 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081637912 – 1356Missing in IDDCDF. 1 PublicationAdd BLAST445
Natural variantiVAR_0195081040I → T. Corresponds to variant dbSNP:rs8073809Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0601381 – 9MDLKEKHLG → MLFKQAELWMPHQGKGNKG in isoform 3. 9
Alternative sequenceiVSP_0110431244T → TGERAPWEGVDDGGKGAPLW KSDPHIAPPSP in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS32732.1 [Q12767-1]
CCDS82204.1 [Q12767-3]

NCBI Reference Sequences

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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

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000314256; ENSP00000313885; ENSG00000177728 [Q12767-1]
ENST00000375248; ENSP00000364397; ENSG00000177728 [Q12767-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9772

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9772

UCSC genome browser

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UCSCi
uc002jnz.5, human [Q12767-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS32732.1 [Q12767-1]
CCDS82204.1 [Q12767-3]
RefSeqiNP_001308077.1, NM_001321148.1 [Q12767-3]
NP_001308078.1, NM_001321149.1
NP_055553.3, NM_014738.5 [Q12767-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115117, 13 interactors
IntActiQ12767, 12 interactors
MINTiQ12767
STRINGi9606.ENSP00000313885

Protein family/group databases

TCDBi3.A.3.2.47, the p-type atpase (p-atpase) superfamily

PTM databases

GlyGeniQ12767, 4 sites
iPTMnetiQ12767
PhosphoSitePlusiQ12767

Genetic variation databases

BioMutaiTMEM94
DMDMi2495718

Proteomic databases

EPDiQ12767
jPOSTiQ12767
MassIVEiQ12767
MaxQBiQ12767
PaxDbiQ12767
PeptideAtlasiQ12767
PRIDEiQ12767
ProteomicsDBi10665
58909 [Q12767-1]
58910 [Q12767-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
19552, 28 antibodies

Genome annotation databases

EnsembliENST00000314256; ENSP00000313885; ENSG00000177728 [Q12767-1]
ENST00000375248; ENSP00000364397; ENSG00000177728 [Q12767-3]
GeneIDi9772
KEGGihsa:9772
UCSCiuc002jnz.5, human [Q12767-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9772
DisGeNETi9772

GeneCards: human genes, protein and diseases

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GeneCardsi
TMEM94
HGNCiHGNC:28983, TMEM94
HPAiENSG00000177728, Low tissue specificity
MalaCardsiTMEM94
MIMi618163, gene
618316, phenotype
neXtProtiNX_Q12767
OpenTargetsiENSG00000177728
Orphaneti562569, TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
PharmGKBiPA142671623
VEuPathDBiHostDB:ENSG00000177728.14

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4383, Eukaryota
GeneTreeiENSGT00390000016550
InParanoidiQ12767
OMAiPDLVCCL
OrthoDBi97547at2759
PhylomeDBiQ12767
TreeFamiTF314852

Enzyme and pathway databases

PathwayCommonsiQ12767

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
9772, 14 hits in 879 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TMEM94, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9772
PharosiQ12767, Tdark

Protein Ontology

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PROi
PR:Q12767
RNActiQ12767, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000177728, Expressed in right adrenal gland and 219 other tissues
ExpressionAtlasiQ12767, baseline and differential
GenevisibleiQ12767, HS

Family and domain databases

InterProiView protein in InterPro
IPR023298, ATPase_P-typ_TM_dom_sf
IPR039720, TMEM94
PANTHERiPTHR13219, PTHR13219, 1 hit
SUPFAMiSSF81665, SSF81665, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTMM94_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12767
Secondary accession number(s): C9JL75, O75536, Q86XF1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
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