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Protein

Transmembrane protein 130

Gene

TMEM130

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 130
Gene namesi
Name:TMEM130
ORF Names:UNQ719/PRO1383
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000166448.14
HGNCiHGNC:25429 TMEM130
neXtProtiNX_Q8N3G9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 339ExtracellularSequence analysisAdd BLAST315
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Topological domaini361 – 435CytoplasmicSequence analysisAdd BLAST75

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000166448
PharmGKBiPA143485650

Polymorphism and mutation databases

BioMutaiTMEM130
DMDMi74714845

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000027827625 – 435Transmembrane protein 130Add BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi34N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi197N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi300N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N3G9
PeptideAtlasiQ8N3G9
PRIDEiQ8N3G9
ProteomicsDBi71800
71801 [Q8N3G9-2]
71802 [Q8N3G9-3]

PTM databases

iPTMnetiQ8N3G9
PhosphoSitePlusiQ8N3G9

Expressioni

Gene expression databases

BgeeiENSG00000166448 Expressed in 121 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_TMEM130
ExpressionAtlasiQ8N3G9 baseline and differential
GenevisibleiQ8N3G9 HS

Organism-specific databases

HPAiHPA012928

Interactioni

Protein-protein interaction databases

BioGridi128818, 1 interactor
IntActiQ8N3G9, 6 interactors
STRINGi9606.ENSP00000413163

Structurei

3D structure databases

ProteinModelPortaliQ8N3G9
SMRiQ8N3G9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini147 – 233PKDPROSITE-ProRule annotationAdd BLAST87

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IV87 Eukaryota
ENOG4111HC8 LUCA
GeneTreeiENSGT00390000016482
HOGENOMiHOG000252998
HOVERGENiHBG094054
InParanoidiQ8N3G9
OMAiIQVWPSS
OrthoDBiEOG091G0GB2
PhylomeDBiQ8N3G9
TreeFamiTF336431

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
SUPFAMiSSF49299 SSF49299, 2 hits
PROSITEiView protein in PROSITE
PS50093 PKD, 1 hit

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N3G9-1) [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
MAQAVWSRLG RILWLACLLP WAPAGVAAGL YELNLTTDSP ATTGAVVTIS
60 70 80 90 100
ASLVAKDNGS LALPADAHLY RFHWIHTPLV LTGKMEKGLS STIRVVGHVP
110 120 130 140 150
GEFPVSVWVT AADCWMCQPV ARGFVVLPIT EFLVGDLVVT QNTSLPWPSS
160 170 180 190 200
YLTKTVLKVS FLLHDPSNFL KTALFLYSWD FGDGTQMVTE DSVVYYNYSI
210 220 230 240 250
IGTFTVKLKV VAEWEEVEPD ATRAVKQKTG DFSASLKLQE TLRGIQVLGP
260 270 280 290 300
TLIQTFQKMT VTLNFLGSPP LTVCWRLKPE CLPLEEGECH PVSVASTAYN
310 320 330 340 350
LTHTFRDPGD YCFSIRAENI ISKTHQYHKI QVWPSRIQPA VFAFPCATLI
360 370 380 390 400
TVMLAFIMYM TLRNATQQKD MVEVADFDFS PMSDKNPEPP SGVRCCCQMC
410 420 430
CGPFLLETPS EYLEIVRENH GLLPPLYKSV KTYTV
Length:435
Mass (Da):48,329
Last modified:October 1, 2002 - v1
Checksum:i737509A3F8263A4F
GO
Isoform 2 (identifier: Q8N3G9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     374-385: Missing.

Show »
Length:423
Mass (Da):46,989
Checksum:iDE1C9C029AA72078
GO
Isoform 3 (identifier: Q8N3G9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     29-130: Missing.
     374-385: Missing.

Show »
Length:321
Mass (Da):36,134
Checksum:iE9F3E22E05FE739C
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V0E7G3V0E7_HUMAN
Transmembrane protein 130
TMEM130 hCG_41328
339Annotation score:
C9JQV5C9JQV5_HUMAN
Transmembrane protein 130
TMEM130
46Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti104P → S in CAD38628 (PubMed:17974005).Curated1
Sequence conflicti346C → R in AAH37895 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030740407E → V. Corresponds to variant dbSNP:rs17161477Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02325729 – 130Missing in isoform 3. 2 PublicationsAdd BLAST102
Alternative sequenceiVSP_023258374 – 385Missing in isoform 2 and isoform 3. 4 PublicationsAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358583 mRNA Translation: AAQ88946.1
AK295543 mRNA Translation: BAH12100.1
AL832523 mRNA Translation: CAD38628.1
AL834348 mRNA Translation: CAD39013.1
AL834349 mRNA Translation: CAD39014.1
CH471091 Genomic DNA Translation: EAW76701.1
CH471091 Genomic DNA Translation: EAW76704.1
CH236956 Genomic DNA Translation: EAL23888.1
BC030793 mRNA Translation: AAH30793.1
BC037895 mRNA Translation: AAH37895.2
CCDSiCCDS47649.1 [Q8N3G9-3]
CCDS47650.1 [Q8N3G9-1]
CCDS5658.1 [Q8N3G9-2]
RefSeqiNP_001127922.1, NM_001134450.1 [Q8N3G9-1]
NP_001127923.1, NM_001134451.1 [Q8N3G9-3]
NP_690877.1, NM_152913.2 [Q8N3G9-2]
UniGeneiHs.270753

Genome annotation databases

EnsembliENST00000339375; ENSP00000341256; ENSG00000166448 [Q8N3G9-2]
ENST00000345589; ENSP00000330262; ENSG00000166448 [Q8N3G9-3]
ENST00000416379; ENSP00000413163; ENSG00000166448 [Q8N3G9-1]
GeneIDi222865
KEGGihsa:222865
UCSCiuc003upn.4 human [Q8N3G9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358583 mRNA Translation: AAQ88946.1
AK295543 mRNA Translation: BAH12100.1
AL832523 mRNA Translation: CAD38628.1
AL834348 mRNA Translation: CAD39013.1
AL834349 mRNA Translation: CAD39014.1
CH471091 Genomic DNA Translation: EAW76701.1
CH471091 Genomic DNA Translation: EAW76704.1
CH236956 Genomic DNA Translation: EAL23888.1
BC030793 mRNA Translation: AAH30793.1
BC037895 mRNA Translation: AAH37895.2
CCDSiCCDS47649.1 [Q8N3G9-3]
CCDS47650.1 [Q8N3G9-1]
CCDS5658.1 [Q8N3G9-2]
RefSeqiNP_001127922.1, NM_001134450.1 [Q8N3G9-1]
NP_001127923.1, NM_001134451.1 [Q8N3G9-3]
NP_690877.1, NM_152913.2 [Q8N3G9-2]
UniGeneiHs.270753

3D structure databases

ProteinModelPortaliQ8N3G9
SMRiQ8N3G9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128818, 1 interactor
IntActiQ8N3G9, 6 interactors
STRINGi9606.ENSP00000413163

PTM databases

iPTMnetiQ8N3G9
PhosphoSitePlusiQ8N3G9

Polymorphism and mutation databases

BioMutaiTMEM130
DMDMi74714845

Proteomic databases

PaxDbiQ8N3G9
PeptideAtlasiQ8N3G9
PRIDEiQ8N3G9
ProteomicsDBi71800
71801 [Q8N3G9-2]
71802 [Q8N3G9-3]

Protocols and materials databases

DNASUi222865
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339375; ENSP00000341256; ENSG00000166448 [Q8N3G9-2]
ENST00000345589; ENSP00000330262; ENSG00000166448 [Q8N3G9-3]
ENST00000416379; ENSP00000413163; ENSG00000166448 [Q8N3G9-1]
GeneIDi222865
KEGGihsa:222865
UCSCiuc003upn.4 human [Q8N3G9-1]

Organism-specific databases

CTDi222865
EuPathDBiHostDB:ENSG00000166448.14
GeneCardsiTMEM130
HGNCiHGNC:25429 TMEM130
HPAiHPA012928
neXtProtiNX_Q8N3G9
OpenTargetsiENSG00000166448
PharmGKBiPA143485650
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IV87 Eukaryota
ENOG4111HC8 LUCA
GeneTreeiENSGT00390000016482
HOGENOMiHOG000252998
HOVERGENiHBG094054
InParanoidiQ8N3G9
OMAiIQVWPSS
OrthoDBiEOG091G0GB2
PhylomeDBiQ8N3G9
TreeFamiTF336431

Miscellaneous databases

ChiTaRSiTMEM130 human
GeneWikiiTMEM130
GenomeRNAii222865
PROiPR:Q8N3G9

Gene expression databases

BgeeiENSG00000166448 Expressed in 121 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_TMEM130
ExpressionAtlasiQ8N3G9 baseline and differential
GenevisibleiQ8N3G9 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR000601 PKD_dom
IPR035986 PKD_dom_sf
SUPFAMiSSF49299 SSF49299, 2 hits
PROSITEiView protein in PROSITE
PS50093 PKD, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTM130_HUMAN
AccessioniPrimary (citable) accession number: Q8N3G9
Secondary accession number(s): A4D266
, B7Z364, Q8IY46, Q8N0W9, Q8N3R2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 104 of the entry and version 1 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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