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A0AVI4 (TM129_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 65. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 129
Gene names
Name:TMEM129
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length362 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the TMEM129 family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A0AVI4-1)

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.
Isoform 2 (identifier: A0AVI4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     228-232: LNSTE → SWRPA
     233-362: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 362334Transmembrane protein 129
PRO_0000291041

Regions

Topological domain29 – 5628Extracellular Potential
Transmembrane57 – 7721Helical; Potential
Topological domain78 – 9417Cytoplasmic Potential
Transmembrane95 – 11521Helical; Potential
Topological domain116 – 362247Extracellular Potential

Amino acid modifications

Glycosylation2291N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence228 – 2325LNSTE → SWRPA in isoform 2.
VSP_036641
Alternative sequence233 – 362130Missing in isoform 2.
VSP_036642
Natural variant831L → I.
Corresponds to variant rs798752 [ dbSNP | Ensembl ].
VAR_032803

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2006. Version 1.
Checksum: 861C9876B492DC56

FASTA36240,464
        10         20         30         40         50         60 
MDSPEVTFTL AYLVFAVCFV FTPNEFHAAG LTVQNLLSGW LGSEDAAFVP FHLRRTAATL 

        70         80         90        100        110        120 
LCHSLLPLGY YVGMCLAASE KRLHALSQAP EAWRLFLLLA VTLPSIACIL IYYWSRDRWA 

       130        140        150        160        170        180 
CHPLARTLAL YALPQSGWQA VASSVNTEFR RIDKFATGAP GARVIVTDTW VMKVTTYRVH 

       190        200        210        220        230        240 
VAQQQDVHLT VTESRQHELS PDSNLPVQLL TIRVASTNPA VQAFDIWLNS TEYGELCEKL 

       250        260        270        280        290        300 
RAPIRRAAHV VIHQSLGDLF LETFASLVEV NPAYSVPSSQ ELEACIGCMQ TRASVKLVKT 

       310        320        330        340        350        360 
CQEAATGECQ QCYCRPMWCL TCMGKWFASR QDPLRPDTWL ASRVPCPTCR ARFCILDVCT 


VR 

« Hide

Isoform 2 [UniParc].

Checksum: BB10F6F61C2DF4B3
Show »

FASTA23225,914

References

[1]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC016773 Genomic DNA. No translation available.
CH471131 Genomic DNA. Translation: EAW82569.1.
CH471131 Genomic DNA. Translation: EAW82570.1.
CH471131 Genomic DNA. Translation: EAW82571.1.
BC009331 mRNA. No translation available.
BC126370 mRNA. Translation: AAI26371.1.
CCDSCCDS3351.1. [A0AVI4-2]
CCDS46998.1. [A0AVI4-1]
RefSeqNP_001120738.1. NM_001127266.1. [A0AVI4-1]
NP_612394.1. NM_138385.3. [A0AVI4-2]
UniGeneHs.518562.

3D structure databases

ProteinModelPortalA0AVI4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124932. 1 interaction.
STRING9606.ENSP00000372394.

PTM databases

PhosphoSiteA0AVI4.

Proteomic databases

MaxQBA0AVI4.
PaxDbA0AVI4.
PRIDEA0AVI4.

Protocols and materials databases

DNASU92305.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303277; ENSP00000305243; ENSG00000168936. [A0AVI4-2]
ENST00000382936; ENSP00000372394; ENSG00000168936. [A0AVI4-1]
ENST00000536901; ENSP00000441812; ENSG00000168936. [A0AVI4-1]
GeneID92305.
KEGGhsa:92305.
UCSCuc003gdm.3. human. [A0AVI4-2]
uc003gdn.3. human. [A0AVI4-1]

Organism-specific databases

CTD92305.
GeneCardsGC04M001717.
HGNCHGNC:25137. TMEM129.
HPAHPA053826.
neXtProtNX_A0AVI4.
PharmGKBPA143485649.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG302378.
HOGENOMHOG000006582.
HOVERGENHBG097695.
InParanoidA0AVI4.
OMAVVIHQSL.
OrthoDBEOG7JMGF6.
PhylomeDBA0AVI4.
TreeFamTF314487.

Gene expression databases

BgeeA0AVI4.
CleanExHS_TMEM129.
GenevestigatorA0AVI4.

Family and domain databases

InterProIPR018801. Tmpp129.
[Graphical view]
PfamPF10272. Tmpp129. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi92305.
NextBio77688.
PROA0AVI4.

Entry information

Entry nameTM129_HUMAN
AccessionPrimary (citable) accession number: A0AVI4
Secondary accession number(s): A6NH49, A6NI98, D3DVP8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 12, 2007
Last sequence update: November 28, 2006
Last modified: July 9, 2014
This is version 65 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM