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Protein

Transmembrane and coiled-coil domain-containing protein 3

Gene

TMCO3

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

Functioni

Probable Na+/H+ antiporter.By similarity

GO - Molecular functioni

Complete GO annotation...

Keywords - Biological processi

Antiport, Ion transport, Transport

Protein family/group databases

TCDBi2.A.37.1.11. the monovalent cation:proton antiporter-2 (cpa2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane and coiled-coil domain-containing protein 3
Alternative name(s):
Putative LAG1-interacting protein
Gene namesi
Name:TMCO3
Synonyms:C13orf11
ORF Names:UNQ2419/PRO4976
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:20329. TMCO3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei286 – 306HelicalSequence analysisAdd BLAST21
Transmembranei317 – 337HelicalSequence analysisAdd BLAST21
Transmembranei350 – 370HelicalSequence analysisAdd BLAST21
Transmembranei416 – 436HelicalSequence analysisAdd BLAST21
Transmembranei456 – 476HelicalSequence analysisAdd BLAST21
Transmembranei498 – 518HelicalSequence analysisAdd BLAST21
Transmembranei554 – 574HelicalSequence analysisAdd BLAST21
Transmembranei578 – 598HelicalSequence analysisAdd BLAST21
Transmembranei608 – 628HelicalSequence analysisAdd BLAST21
Transmembranei640 – 660HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000150403.
PharmGKBiPA134989495.

Polymorphism and mutation databases

BioMutaiTMCO3.
DMDMi74749389.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000024985623 – 677Transmembrane and coiled-coil domain-containing protein 3Add BLAST655

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi206N-linked (GlcNAc...)Sequence analysis1
Glycosylationi230N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6UWJ1.
MaxQBiQ6UWJ1.
PaxDbiQ6UWJ1.
PeptideAtlasiQ6UWJ1.
PRIDEiQ6UWJ1.

PTM databases

iPTMnetiQ6UWJ1.
PhosphoSitePlusiQ6UWJ1.

Expressioni

Tissue specificityi

Expressed in the cornea, lens capsule and choroid-retinal pigment epithelium (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000150403.
CleanExiHS_TMCO3.
ExpressionAtlasiQ6UWJ1. baseline and differential.
GenevisibleiQ6UWJ1. HS.

Organism-specific databases

HPAiHPA039561.
HPA048126.

Interactioni

Protein-protein interaction databases

BioGridi120334. 38 interactors.
IntActiQ6UWJ1. 4 interactors.
STRINGi9606.ENSP00000389399.

Structurei

3D structure databases

ProteinModelPortaliQ6UWJ1.
SMRiQ6UWJ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili124 – 204Sequence analysisAdd BLAST81

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi221 – 224Poly-Glu4

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1650. Eukaryota.
COG0475. LUCA.
GeneTreeiENSGT00390000001394.
HOVERGENiHBG094066.
InParanoidiQ6UWJ1.
OMAiVVMKFLL.
OrthoDBiEOG091G03W2.
PhylomeDBiQ6UWJ1.
TreeFamiTF329364.

Family and domain databases

InterProiIPR006153. Cation/H_exchanger.
[Graphical view]
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q6UWJ1-1) [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
MKVLGRSFFW VLFPVLPWAV QAVEHEEVAQ RVIKLHRGRG VAAMQSRQWV
60 70 80 90 100
RDSCRKLSGL LRQKNAVLNK LKTAIGAVEK DVGLSDEEKL FQVHTFEIFQ
110 120 130 140 150
KELNESENSV FQAVYGLQRA LQGDYKDVVN MKESSRQRLE ALREAAIKEE
160 170 180 190 200
TEYMELLAAE KHQVEALKNM QHQNQSLSML DEILEDVRKA ADRLEEEIEE
210 220 230 240 250
HAFDDNKSVK GVNFEAVLRV EEEEANSKQN ITKREVEDDL GLSMLIDSQN
260 270 280 290 300
NQYILTKPRD STIPRADHHF IKDIVTIGML SLPCGWLCTA IGLPTMFGYI
310 320 330 340 350
ICGVLLGPSG LNSIKSIVQV ETLGEFGVFF TLFLVGLEFS PEKLRKVWKI
360 370 380 390 400
SLQGPCYMTL LMIAFGLLWG HLLRIKPTQS VFISTCLSLS STPLVSRFLM
410 420 430 440 450
GSARGDKEGD IDYSTVLLGM LVTQDVQLGL FMAVMPTLIQ AGASASSSIV
460 470 480 490 500
VEVLRILVLI GQILFSLAAV FLLCLVIKKY LIGPYYRKLH MESKGNKEIL
510 520 530 540 550
ILGISAFIFL MLTVTELLDV SMELGCFLAG ALVSSQGPVV TEEIATSIEP
560 570 580 590 600
IRDFLAIVFF ASIGLHVFPT FVAYELTVLV FLTLSVVVMK FLLAALVLSL
610 620 630 640 650
ILPRSSQYIK WIVSAGLAQV SEFSFVLGSR ARRAGVISRE VYLLILSVTT
660 670
LSLLLAPVLW RAAITRCVPR PERRSSL
Length:677
Mass (Da):75,598
Last modified:July 5, 2004 - v1
Checksum:i138AA9B424D4A668
GO
Isoform 2 (identifier: Q6UWJ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     515-524: TELLDVSMEL → ILKLCVIYVI
     525-677: Missing.

Note: No experimental confirmation available.
Show »
Length:524
Mass (Da):58,948
Checksum:i16458F3A1FE89251
GO
Isoform 3 (identifier: Q6UWJ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     410-414: DIDYS → NRTAL
     415-677: Missing.

Note: No experimental confirmation available.
Show »
Length:414
Mass (Da):46,844
Checksum:i631085E3692A4A46
GO

Sequence cautioni

The sequence AAM92892 differs from that shown. Reason: Frameshift at positions 367 and 378.Curated
The sequence BAB85074 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti223E → G in BAA91295 (PubMed:14702039).Curated1
Sequence conflicti380S → N in AAM92892 (Ref. 5) Curated1
Sequence conflicti388S → A in AAM92892 (Ref. 5) Curated1
Sequence conflicti436P → R in AAH68515 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07696414P → L Found in a patient with cornea guttata with anterior polar cataracts; unknown pathological significance. 1
Natural variantiVAR_050037443A → T.Corresponds to variant rs2260335dbSNPEnsembl.1
Natural variantiVAR_050038445A → T.1 PublicationCorresponds to variant rs7319493dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020561410 – 414DIDYS → NRTAL in isoform 3. 1 Publication5
Alternative sequenceiVSP_020562415 – 677Missing in isoform 3. 1 PublicationAdd BLAST263
Alternative sequenceiVSP_020563515 – 524TELLDVSMEL → ILKLCVIYVI in isoform 2. 1 Publication10
Alternative sequenceiVSP_020564525 – 677Missing in isoform 2. 1 PublicationAdd BLAST153

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358768 mRNA. Translation: AAQ89128.1.
AK000630 mRNA. Translation: BAA91295.1.
AK074415 mRNA. Translation: BAB85074.1. Different initiation.
AL442125 Genomic DNA. Translation: CAI39784.1.
AL442125 Genomic DNA. Translation: CAI39785.2.
BC068515 mRNA. Translation: AAH68515.1.
BC012564 mRNA. Translation: AAH12564.1.
AF209505 mRNA. Translation: AAM92892.1. Frameshift.
CCDSiCCDS9537.1. [Q6UWJ1-1]
RefSeqiNP_060375.4. NM_017905.4. [Q6UWJ1-1]
XP_006720032.1. XM_006719969.1. [Q6UWJ1-1]
XP_011535800.1. XM_011537498.2. [Q6UWJ1-1]
UniGeneiHs.317593.

Genome annotation databases

EnsembliENST00000375391; ENSP00000364540; ENSG00000150403. [Q6UWJ1-3]
ENST00000434316; ENSP00000389399; ENSG00000150403. [Q6UWJ1-1]
ENST00000474393; ENSP00000484053; ENSG00000150403. [Q6UWJ1-2]
GeneIDi55002.
KEGGihsa:55002.
UCSCiuc001vtt.5. human. [Q6UWJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358768 mRNA. Translation: AAQ89128.1.
AK000630 mRNA. Translation: BAA91295.1.
AK074415 mRNA. Translation: BAB85074.1. Different initiation.
AL442125 Genomic DNA. Translation: CAI39784.1.
AL442125 Genomic DNA. Translation: CAI39785.2.
BC068515 mRNA. Translation: AAH68515.1.
BC012564 mRNA. Translation: AAH12564.1.
AF209505 mRNA. Translation: AAM92892.1. Frameshift.
CCDSiCCDS9537.1. [Q6UWJ1-1]
RefSeqiNP_060375.4. NM_017905.4. [Q6UWJ1-1]
XP_006720032.1. XM_006719969.1. [Q6UWJ1-1]
XP_011535800.1. XM_011537498.2. [Q6UWJ1-1]
UniGeneiHs.317593.

3D structure databases

ProteinModelPortaliQ6UWJ1.
SMRiQ6UWJ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120334. 38 interactors.
IntActiQ6UWJ1. 4 interactors.
STRINGi9606.ENSP00000389399.

Protein family/group databases

TCDBi2.A.37.1.11. the monovalent cation:proton antiporter-2 (cpa2) family.

PTM databases

iPTMnetiQ6UWJ1.
PhosphoSitePlusiQ6UWJ1.

Polymorphism and mutation databases

BioMutaiTMCO3.
DMDMi74749389.

Proteomic databases

EPDiQ6UWJ1.
MaxQBiQ6UWJ1.
PaxDbiQ6UWJ1.
PeptideAtlasiQ6UWJ1.
PRIDEiQ6UWJ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375391; ENSP00000364540; ENSG00000150403. [Q6UWJ1-3]
ENST00000434316; ENSP00000389399; ENSG00000150403. [Q6UWJ1-1]
ENST00000474393; ENSP00000484053; ENSG00000150403. [Q6UWJ1-2]
GeneIDi55002.
KEGGihsa:55002.
UCSCiuc001vtt.5. human. [Q6UWJ1-1]

Organism-specific databases

CTDi55002.
GeneCardsiTMCO3.
HGNCiHGNC:20329. TMCO3.
HPAiHPA039561.
HPA048126.
MIMi617134. gene.
neXtProtiNX_Q6UWJ1.
OpenTargetsiENSG00000150403.
PharmGKBiPA134989495.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1650. Eukaryota.
COG0475. LUCA.
GeneTreeiENSGT00390000001394.
HOVERGENiHBG094066.
InParanoidiQ6UWJ1.
OMAiVVMKFLL.
OrthoDBiEOG091G03W2.
PhylomeDBiQ6UWJ1.
TreeFamiTF329364.

Miscellaneous databases

ChiTaRSiTMCO3. human.
GenomeRNAii55002.
PROiQ6UWJ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150403.
CleanExiHS_TMCO3.
ExpressionAtlasiQ6UWJ1. baseline and differential.
GenevisibleiQ6UWJ1. HS.

Family and domain databases

InterProiIPR006153. Cation/H_exchanger.
[Graphical view]
PfamiPF00999. Na_H_Exchanger. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMCO3_HUMAN
AccessioniPrimary (citable) accession number: Q6UWJ1
Secondary accession number(s): Q5JSB1
, Q6NUN1, Q8NG29, Q8TCI6, Q96EA6, Q9NWT2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 96 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 13
    Human chromosome 13: 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

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.