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UniProtKB - Q12767 (TMM94_HUMAN)

Entry version 145 (02 Dec 2020)
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000177728.14

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

<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 mutations 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

Polymorphism and mutation 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

More...MassIVEi		Q12767

MaxQB - The MaxQuant DataBase

More...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

More...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

More...Genevisiblei		Q12767, HS

Organism-specific databases

Human Protein Atlas

More...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)

More...BioGRIDi		115117, 11 interactors

Protein interaction database and analysis system

More...IntActi		Q12767, 12 interactors

Molecular INTeraction database

More...MINTi		Q12767

STRING: functional protein association networks

More...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

More...eggNOGi		KOG4383, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000016550

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q12767

Identification of Orthologs from Complete Genome Data

More...OMAi		PDLVCCL

Database of Orthologous Groups

More...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

More...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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

NCBI Reference Sequences

More...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

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9772

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9772

UCSC genome browser

More...UCSCi		uc002jnz.5, human [Q12767-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi115117, 11 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

Polymorphism and mutation 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, 31 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

More...CTDi		9772
DisGeNETi9772
EuPathDBiHostDB:ENSG00000177728.14

GeneCards: human genes, protein and diseases

More...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

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...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 848 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

More...GenomeRNAii		9772
PharosiQ12767, Tdark

Protein Ontology

More...PROi		PR:Q12767
RNActiQ12767, protein

The Stanford Online Universal Resource for Clones and ESTs

More...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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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: December 2, 2020
This is version 145 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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 polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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