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Protein

Transmembrane protein 53

Gene

TMEM53

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Protein family/group databases

ESTHERihuman-TMEM53. Duf_829.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 53
Gene namesi
Name:TMEM53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26186. TMEM53.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei171 – 19121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670769.

Polymorphism and mutation databases

BioMutaiTMEM53.
DMDMi74758243.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 277277Transmembrane protein 53PRO_0000284118Add
BLAST

Proteomic databases

PaxDbiQ6P2H8.
PRIDEiQ6P2H8.

PTM databases

PhosphoSiteiQ6P2H8.

Expressioni

Gene expression databases

BgeeiQ6P2H8.
CleanExiHS_TMEM53.
ExpressionAtlasiQ6P2H8. baseline and differential.
GenevisibleiQ6P2H8. HS.

Organism-specific databases

HPAiHPA021134.

Interactioni

Protein-protein interaction databases

BioGridi122767. 2 interactions.
STRINGi9606.ENSP00000361311.

Structurei

3D structure databases

ProteinModelPortaliQ6P2H8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM53 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG241561.
GeneTreeiENSGT00390000000715.
HOGENOMiHOG000230532.
HOVERGENiHBG056173.
InParanoidiQ6P2H8.
OMAiFMRNCVH.
PhylomeDBiQ6P2H8.
TreeFamiTF313176.

Family and domain databases

Gene3Di3.40.50.1820. 2 hits.
InterProiIPR029058. AB_hydrolase.
IPR008547. DUF829_TMEM53.
[Graphical view]
PANTHERiPTHR12265. PTHR12265. 1 hit.
PfamiPF05705. DUF829. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P2H8-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN
60 70 80 90 100
LAKYSAIYHK RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY
110 120 130 140 150
EIEKEPLLFH VFSNGGVMLY RYVLELLQTR RFCRLRVVGT IFDSAPGDSN
160 170 180 190 200
LVGALRALAA ILERRAAMLR LLLLVAFALV VVLFHVLLAP ITALFHTHFY
210 220 230 240 250
DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV LARSVDFVSS
260 270
AHVSHLRDYP TYYTSLCVDF MRNCVRC
Length:277
Mass (Da):31,630
Last modified:July 5, 2004 - v1
Checksum:i487C46C92F78629E
GO
Isoform 2 (identifier: Q6P2H8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:204
Mass (Da):23,473
Checksum:iFCF38205BC00451C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti177 – 1771F → L in BAB15317 (PubMed:14702039).Curated
Sequence conflicti184 – 1841F → L in CAG33629 (Ref. 2) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7373Missing in isoform 2. 2 PublicationsVSP_024446Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026006 mRNA. Translation: BAB15317.1.
AK296548 mRNA. Translation: BAG59172.1.
CR457348 mRNA. Translation: CAG33629.1.
AL832539 mRNA. Translation: CAI46125.1.
AL122004 Genomic DNA. Translation: CAI22342.1.
CH471059 Genomic DNA. Translation: EAX07029.1.
BC064520 mRNA. Translation: AAH64520.1.
CCDSiCCDS511.1. [Q6P2H8-1]
RefSeqiNP_001287675.1. NM_001300746.1. [Q6P2H8-2]
NP_001287676.1. NM_001300747.1.
NP_001287677.1. NM_001300748.1.
NP_078863.2. NM_024587.3. [Q6P2H8-1]
UniGeneiHs.22157.

Genome annotation databases

EnsembliENST00000372237; ENSP00000361311; ENSG00000126106.
GeneIDi79639.
KEGGihsa:79639.
UCSCiuc001cmc.3. human. [Q6P2H8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026006 mRNA. Translation: BAB15317.1.
AK296548 mRNA. Translation: BAG59172.1.
CR457348 mRNA. Translation: CAG33629.1.
AL832539 mRNA. Translation: CAI46125.1.
AL122004 Genomic DNA. Translation: CAI22342.1.
CH471059 Genomic DNA. Translation: EAX07029.1.
BC064520 mRNA. Translation: AAH64520.1.
CCDSiCCDS511.1. [Q6P2H8-1]
RefSeqiNP_001287675.1. NM_001300746.1. [Q6P2H8-2]
NP_001287676.1. NM_001300747.1.
NP_001287677.1. NM_001300748.1.
NP_078863.2. NM_024587.3. [Q6P2H8-1]
UniGeneiHs.22157.

3D structure databases

ProteinModelPortaliQ6P2H8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122767. 2 interactions.
STRINGi9606.ENSP00000361311.

Protein family/group databases

ESTHERihuman-TMEM53. Duf_829.

PTM databases

PhosphoSiteiQ6P2H8.

Polymorphism and mutation databases

BioMutaiTMEM53.
DMDMi74758243.

Proteomic databases

PaxDbiQ6P2H8.
PRIDEiQ6P2H8.

Protocols and materials databases

DNASUi79639.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372237; ENSP00000361311; ENSG00000126106.
GeneIDi79639.
KEGGihsa:79639.
UCSCiuc001cmc.3. human. [Q6P2H8-1]

Organism-specific databases

CTDi79639.
GeneCardsiGC01M045100.
HGNCiHGNC:26186. TMEM53.
HPAiHPA021134.
neXtProtiNX_Q6P2H8.
PharmGKBiPA142670769.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG241561.
GeneTreeiENSGT00390000000715.
HOGENOMiHOG000230532.
HOVERGENiHBG056173.
InParanoidiQ6P2H8.
OMAiFMRNCVH.
PhylomeDBiQ6P2H8.
TreeFamiTF313176.

Miscellaneous databases

ChiTaRSiTMEM53. human.
GenomeRNAii79639.
NextBioi68757.
PROiQ6P2H8.

Gene expression databases

BgeeiQ6P2H8.
CleanExiHS_TMEM53.
ExpressionAtlasiQ6P2H8. baseline and differential.
GenevisibleiQ6P2H8. HS.

Family and domain databases

Gene3Di3.40.50.1820. 2 hits.
InterProiIPR029058. AB_hydrolase.
IPR008547. DUF829_TMEM53.
[Graphical view]
PANTHERiPTHR12265. PTHR12265. 1 hit.
PfamiPF05705. DUF829. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 2 hits.
ProtoNetiSearch...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Kidney epithelium and Thalamus.
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye.

Entry informationi

Entry nameiTMM53_HUMAN
AccessioniPrimary (citable) accession number: Q6P2H8
Secondary accession number(s): B4DKG0
, Q5JPH2, Q6IA07, Q9H6E2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: July 5, 2004
Last modified: July 22, 2015
This is version 92 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.