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Protein

Transmembrane protein 130

Gene

TMEM130

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166448-MONOMER.

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

HGNCiHGNC:25429. TMEM130.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

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...)Sequence analysis1
Glycosylationi197N-linked (GlcNAc...)Sequence analysis1
Glycosylationi300N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N3G9.
PeptideAtlasiQ8N3G9.
PRIDEiQ8N3G9.

PTM databases

iPTMnetiQ8N3G9.
PhosphoSitePlusiQ8N3G9.

Expressioni

Gene expression databases

BgeeiENSG00000166448.
CleanExiHS_TMEM130.
ExpressionAtlasiQ8N3G9. baseline and differential.
GenevisibleiQ8N3G9. HS.

Organism-specific databases

HPAiHPA012928.

Interactioni

Protein-protein interaction databases

MINTiMINT-4722162.
STRINGi9606.ENSP00000413163.

Structurei

3D structure databases

ProteinModelPortaliQ8N3G9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 PKD domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
InterProiIPR000601. PKD_dom.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 2 hits.
PROSITEiPS50093. PKD. 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: 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

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 rs17161477dbSNPEnsembl.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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

MINTiMINT-4722162.
STRINGi9606.ENSP00000413163.

PTM databases

iPTMnetiQ8N3G9.
PhosphoSitePlusiQ8N3G9.

Polymorphism and mutation databases

BioMutaiTMEM130.
DMDMi74714845.

Proteomic databases

PaxDbiQ8N3G9.
PeptideAtlasiQ8N3G9.
PRIDEiQ8N3G9.

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.
GeneCardsiTMEM130.
HGNCiHGNC:25429. TMEM130.
HPAiHPA012928.
neXtProtiNX_Q8N3G9.
OpenTargetsiENSG00000166448.
PharmGKBiPA143485650.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166448-MONOMER.

Miscellaneous databases

ChiTaRSiTMEM130. human.
GeneWikiiTMEM130.
GenomeRNAii222865.
PROiQ8N3G9.

Gene expression databases

BgeeiENSG00000166448.
CleanExiHS_TMEM130.
ExpressionAtlasiQ8N3G9. baseline and differential.
GenevisibleiQ8N3G9. HS.

Family and domain databases

Gene3Di2.60.40.670. 1 hit.
InterProiIPR000601. PKD_dom.
[Graphical view]
SUPFAMiSSF49299. SSF49299. 2 hits.
PROSITEiPS50093. PKD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTM130_HUMAN
AccessioniPrimary (citable) accession number: Q8N3G9
Secondary accession number(s): A4D266
, B7Z364, Q8IY46, Q8N0W9, Q8N3R2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 89 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 7
    Human chromosome 7: 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. 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.