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Protein

Transmembrane protein 260

Gene

TMEM260

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 260
Gene namesi
Name:TMEM260
Synonyms:C14orf101
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000070269.13.
HGNCiHGNC:20185. TMEM260.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei28 – 48HelicalSequence analysisAdd BLAST21
Transmembranei71 – 91HelicalSequence analysisAdd BLAST21
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Transmembranei189 – 209HelicalSequence analysisAdd BLAST21
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Transmembranei356 – 376HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Structural heart defects and renal anomalies syndrome (SHDRA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum.
See also OMIM:617478
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078766465 – 707Missing in SHDRA; reduced expression of isoform 1 due to nonsense-mediated decay in patient-derived cells. 1 PublicationAdd BLAST243

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi617478. phenotype.
OpenTargetsiENSG00000070269.
PharmGKBiPA134894829.

Polymorphism and mutation databases

BioMutaiTMEM260.
DMDMi296439393.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000899051 – 707Transmembrane protein 260Add BLAST707

Proteomic databases

MaxQBiQ9NX78.
PaxDbiQ9NX78.
PeptideAtlasiQ9NX78.
PRIDEiQ9NX78.

PTM databases

iPTMnetiQ9NX78.
PhosphoSitePlusiQ9NX78.

Expressioni

Tissue specificityi

Isoform 1 and isoform 3 are expressed in brain, heart, kidney, liver, lung, pancreas and placenta but are not detected in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000070269.
CleanExiHS_C14orf101.
ExpressionAtlasiQ9NX78. baseline and differential.
GenevisibleiQ9NX78. HS.

Organism-specific databases

HPAiHPA003502.

Interactioni

Protein-protein interaction databases

BioGridi120258. 8 interactors.
STRINGi9606.ENSP00000261556.

Structurei

3D structure databases

ProteinModelPortaliQ9NX78.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM260 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHX8. Eukaryota.
ENOG410XQTX. LUCA.
GeneTreeiENSGT00390000013544.
HOGENOMiHOG000031293.
HOVERGENiHBG051017.
InParanoidiQ9NX78.
OMAiLWPWGSC.
OrthoDBiEOG091G031D.
PhylomeDBiQ9NX78.
TreeFamiTF329604.

Family and domain databases

InterProiView protein in InterPro
IPR021280. DUF2723.
PfamiView protein in Pfam
PF11028. DUF2723. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9NX78-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MSPHGDGRGQ AQGRAVRVGL RRSGGIRGGV AVFAAVAAVF TFTLPPSVPG
60 70 80 90 100
GDSGELITAA HELGVAHPPG YPLFTLVAKL AITLFPFGSI AYRVNLLCGL
110 120 130 140 150
FGAVAASLLF FTVFRLSGSS AGGILAAGVF SFSRLTWQWS IAAEVFSLNN
160 170 180 190 200
LFVGLLMALT VHFEEAATAK ERSKVAKIGA FCCGLSLCNQ HTIILYVLCI
210 220 230 240 250
IPWILFQLLK KKELSLGSLL KLSLYFSAGL LPYVHLPISS YLNHARWTWG
260 270 280 290 300
DQTTLQGFLT HFLREEYGTF SLAKSEIGSS MSEILLSQVT NMRTELSFNI
310 320 330 340 350
QALAVCANIC LATKDRQNPS LVWLFTGMFC IYSLFFAWRA NLDISKPLFM
360 370 380 390 400
GVVERFWMQS NAVVAVLAGI GLAAVVSETN RVLNSNGLQC LEWLSATLFV
410 420 430 440 450
VYQIYSNYSV CDQRTNYVID KFAKNLLTSM PHDAIILLRG DLPGNSLRYM
460 470 480 490 500
HYCEGLRPDI SLVDQEMMTY EWYLPKMAKH LPGVNFPGNR WNPVEGILPS
510 520 530 540 550
GMVTFNLYHF LEVNKQKETF VCIGIHEGDP TWKKNYSLWP WGSCDKLVPL
560 570 580 590 600
EIVFNPEEWI KLTKSIYNWT EEYGRFDPSS WESVANEEMW QARMKTPFFI
610 620 630 640 650
FNLAETAHMP SKVKAQLYAQ AYDLYKEIVY LQKEHPVNWH KNYAIACERM
660 670 680 690 700
LRLQARDADP EVLLSETIRH FRLYSQKAPN DPQQADILGA LKHLRKELQS

LRNRKNV
Length:707
Mass (Da):79,536
Last modified:May 18, 2010 - v3
Checksum:iF3EAB7ED42B77489
GO
Isoform 2 (identifier: Q9NX78-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     287-707: Missing.

Note: No experimental confirmation available.
Show »
Length:286
Mass (Da):30,702
Checksum:iC8F4DC3BB7A8F640
GO
Isoform 3 (identifier: Q9NX78-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     409-409: S → R
     410-707: Missing.

Show »
Length:409
Mass (Da):44,539
Checksum:i36196D2B3B315264
GO

Sequence cautioni

The sequence BAA91139 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BC045556 differs from that shown. Reason: Frameshift at position 212.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3P → H in BC045556 (PubMed:15489334).Curated1
Sequence conflicti57I → T in BAF85788 (PubMed:14702039).Curated1
Sequence conflicti335F → V in BAA91139 (PubMed:14702039).Curated1
Sequence conflicti680N → S in BAF85788 (PubMed:14702039).Curated1
Sequence conflicti680N → S in BAG51667 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057823245A → S1 PublicationCorresponds to variant dbSNP:rs17776256Ensembl.1
Natural variantiVAR_078766465 – 707Missing in SHDRA; reduced expression of isoform 1 due to nonsense-mediated decay in patient-derived cells. 1 PublicationAdd BLAST243
Natural variantiVAR_057824565S → N. Corresponds to variant dbSNP:rs1041316Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008621287 – 707Missing in isoform 2. 1 PublicationAdd BLAST421
Alternative sequenceiVSP_058993409S → R in isoform 3. 1 Publication1
Alternative sequenceiVSP_058994410 – 707Missing in isoform 3. 1 PublicationAdd BLAST298

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000399 mRNA. Translation: BAA91139.1. Different initiation.
AK293099 mRNA. Translation: BAF85788.1.
AK056291 mRNA. Translation: BAG51667.1.
AL161757 Genomic DNA. No translation available.
AL355103 Genomic DNA. No translation available.
AL359234 Genomic DNA. No translation available.
KF455900 Genomic DNA. No translation available.
BC045556 mRNA. No translation available.
BC121163 mRNA. Translation: AAI21164.1.
CCDSiCCDS9727.2. [Q9NX78-1]
RefSeqiNP_060269.3. NM_017799.3. [Q9NX78-1]
UniGeneiHs.497253.

Genome annotation databases

EnsembliENST00000261556; ENSP00000261556; ENSG00000070269. [Q9NX78-1]
ENST00000538838; ENSP00000441934; ENSG00000070269. [Q9NX78-3]
GeneIDi54916.
KEGGihsa:54916.
UCSCiuc001xcm.4. human. [Q9NX78-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTM260_HUMAN
AccessioniPrimary (citable) accession number: Q9NX78
Secondary accession number(s): A8KAN4
, B3KPF5, Q0VAA1, Q86XE1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: May 18, 2010
Last modified: September 27, 2017
This is version 111 of the entry and version 3 of the sequence. See 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 14
    Human chromosome 14: 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
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries