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Protein

Transmembrane protein 260

Gene

TMEM260

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi617449 gene
neXtProtiNX_Q9NX78

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

MalaCardsiTMEM260
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

EPDiQ9NX78
MaxQBiQ9NX78
PaxDbiQ9NX78
PeptideAtlasiQ9NX78
PRIDEiQ9NX78
ProteomicsDBi83054
83055 [Q9NX78-2]

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 Expressed in 212 organ(s), highest expression level in caput epididymis
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.

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H7D0F5H7D0_HUMAN
Transmembrane protein 260
TMEM260
324Annotation score:
G3V320G3V320_HUMAN
Transmembrane protein 260
TMEM260
253Annotation score:
G3V4Y3G3V4Y3_HUMAN
Transmembrane protein 260
TMEM260
115Annotation score:
G3V4A2G3V4A2_HUMAN
Transmembrane protein 260
TMEM260
74Annotation score:
H0YJX9H0YJX9_HUMAN
Transmembrane protein 260
TMEM260
101Annotation score:
H0YK00H0YK00_HUMAN
Transmembrane protein 260
TMEM260
20Annotation score:
H0YJK2H0YJK2_HUMAN
Transmembrane protein 260
TMEM260
41Annotation score:

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]
uc059bva.1 human

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 12, 2018
This is version 116 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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