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Protein

Transmembrane protein 65

Gene

TMEM65

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Plays an important role in cardiac development and function. Regulates cardiac conduction and the function of the gap junction protein GJA1. Contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 65
Gene namesi
Name:TMEM65
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:25203. TMEM65.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 110110Cytoplasmic1 PublicationAdd
BLAST
Transmembranei111 – 13121HelicalSequence analysisAdd
BLAST
Topological domaini132 – 14211Extracellular1 PublicationAdd
BLAST
Transmembranei143 – 16523HelicalSequence analysisAdd
BLAST
Topological domaini166 – 20944Cytoplasmic1 PublicationAdd
BLAST
Transmembranei210 – 23021HelicalSequence analysisAdd
BLAST
Topological domaini231 – 24010Extracellular1 Publication

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • intercalated disc Source: UniProtKB
  • mitochondrion Source: Ensembl
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670778.

Polymorphism and mutation databases

BioMutaiTMEM65.
DMDMi296452844.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 240240Transmembrane protein 65PRO_0000251404Add
BLAST

Proteomic databases

EPDiQ6PI78.
MaxQBiQ6PI78.
PaxDbiQ6PI78.
PRIDEiQ6PI78.
TopDownProteomicsiQ6PI78.

PTM databases

iPTMnetiQ6PI78.

Expressioni

Tissue specificityi

Predominantly expressed the ventricular tissue (at protein level).1 Publication

Gene expression databases

BgeeiQ6PI78.
CleanExiHS_TMEM65.
GenevisibleiQ6PI78. HS.

Organism-specific databases

HPAiHPA025020.

Interactioni

Subunit structurei

Monomer (By similarity). Homodimer (PubMed:26403541). Interacts with GJA1 (By similarity). Interacts weakly with DSP (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi127596. 10 interactions.
IntActiQ6PI78. 1 interaction.
STRINGi9606.ENSP00000297632.

Structurei

3D structure databases

ProteinModelPortaliQ6PI78.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4619. Eukaryota.
ENOG4111UFU. LUCA.
GeneTreeiENSGT00390000017802.
HOGENOMiHOG000021204.
HOVERGENiHBG059915.
InParanoidiQ6PI78.
OMAiKEPMEPL.
OrthoDBiEOG7R2BKW.
PhylomeDBiQ6PI78.
TreeFamiTF105823.

Family and domain databases

InterProiIPR019537. Transmembrane_protein_65.
[Graphical view]
PfamiPF10507. DUF2453. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6PI78-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRLLPLLRS RTARSLRPGP AAAAAPRPPS WCCCGRGLLA LAPPGGLPGG
60 70 80 90 100
PRRLGTHPKK EPMEALNTAQ GARDFIYSLH STERSCLLKE LHRFESIAIA
110 120 130 140 150
QEKLEAPPPT PGQLRYVFIH NAIPFIGFGF LDNAIMIVAG THIEMSIGII
160 170 180 190 200
LGISTMAAAA LGNLVSDLAG LGLAGYVEAL ASRLGLSIPD LTPKQVDMWQ
210 220 230 240
TRLSTHLGKA VGVTIGCILG MFPLIFFGGG EEDEKLETKS
Length:240
Mass (Da):25,498
Last modified:May 18, 2010 - v2
Checksum:iD24964048FF24DF2
GO

Sequence cautioni

The sequence AAH32396.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti6 – 61P → R in AAH41379 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti97 – 971I → V.1 Publication
Corresponds to variant rs17854113 [ dbSNP | Ensembl ].
VAR_060384

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC090192 Genomic DNA. No translation available.
BC017881 mRNA. Translation: AAH17881.1.
BC032396 mRNA. Translation: AAH32396.1. Different initiation.
BC041379 mRNA. Translation: AAH41379.1.
CCDSiCCDS6348.1.
RefSeqiNP_919267.2. NM_194291.2.
UniGeneiHs.187646.

Genome annotation databases

EnsembliENST00000297632; ENSP00000297632; ENSG00000164983.
GeneIDi157378.
KEGGihsa:157378.
UCSCiuc010mdl.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC090192 Genomic DNA. No translation available.
BC017881 mRNA. Translation: AAH17881.1.
BC032396 mRNA. Translation: AAH32396.1. Different initiation.
BC041379 mRNA. Translation: AAH41379.1.
CCDSiCCDS6348.1.
RefSeqiNP_919267.2. NM_194291.2.
UniGeneiHs.187646.

3D structure databases

ProteinModelPortaliQ6PI78.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127596. 10 interactions.
IntActiQ6PI78. 1 interaction.
STRINGi9606.ENSP00000297632.

PTM databases

iPTMnetiQ6PI78.

Polymorphism and mutation databases

BioMutaiTMEM65.
DMDMi296452844.

Proteomic databases

EPDiQ6PI78.
MaxQBiQ6PI78.
PaxDbiQ6PI78.
PRIDEiQ6PI78.
TopDownProteomicsiQ6PI78.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297632; ENSP00000297632; ENSG00000164983.
GeneIDi157378.
KEGGihsa:157378.
UCSCiuc010mdl.4. human.

Organism-specific databases

CTDi157378.
GeneCardsiTMEM65.
H-InvDBHIX0007771.
HGNCiHGNC:25203. TMEM65.
HPAiHPA025020.
MIMi616609. gene.
neXtProtiNX_Q6PI78.
PharmGKBiPA142670778.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4619. Eukaryota.
ENOG4111UFU. LUCA.
GeneTreeiENSGT00390000017802.
HOGENOMiHOG000021204.
HOVERGENiHBG059915.
InParanoidiQ6PI78.
OMAiKEPMEPL.
OrthoDBiEOG7R2BKW.
PhylomeDBiQ6PI78.
TreeFamiTF105823.

Miscellaneous databases

ChiTaRSiTMEM65. human.
GenomeRNAii157378.
NextBioi87462.
PROiQ6PI78.
SOURCEiSearch...

Gene expression databases

BgeeiQ6PI78.
CleanExiHS_TMEM65.
GenevisibleiQ6PI78. HS.

Family and domain databases

InterProiIPR019537. Transmembrane_protein_65.
[Graphical view]
PfamiPF10507. DUF2453. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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], VARIANT VAL-97.
    Tissue: Brain.
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. Cited for: SUBUNIT, SUBCELLULAR LOCATION, TOPOLOGY, TISSUE SPECIFICITY.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTMM65_HUMAN
AccessioniPrimary (citable) accession number: Q6PI78
Secondary accession number(s): Q8N5G8, Q8WVK5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: May 18, 2010
Last modified: March 16, 2016
This is version 86 of the entry and version 2 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 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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 one 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.