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Q96AQ2 (TM125_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane protein 125
Gene names
Name:TMEM125
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length219 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 219219Transmembrane protein 125
PRO_0000251716

Regions

Transmembrane36 – 5621Helical; Potential
Transmembrane68 – 8821Helical; Potential
Transmembrane114 – 13421Helical; Potential
Transmembrane147 – 16721Helical; Potential

Natural variations

Natural variant1071R → L in a breast cancer sample; somatic mutation. Ref.3
VAR_035669
Natural variant1121A → D.
Corresponds to variant rs35880191 [ dbSNP | Ensembl ].
VAR_051428

Sequences

Sequence LengthMass (Da)Tools
Q96AQ2 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 868D23D63AD804A0

FASTA21922,172
        10         20         30         40         50         60 
MSEQEAQAPG GRGLPPDMLA EQVELWWSQQ PRRSALCFVV AVGLVAGCGA GGVALLSTTS 

        70         80         90        100        110        120 
SRSGEWRLAT GTVLCLLALL VLVKQLMSSA VQDMNCIRQA HHVALLRSGG GADALVVLLS 

       130        140        150        160        170        180 
GLVLLVTGLT LAGLAAAPAP ARPLAAMLSV GIALAALGSL LLLGLLLYQV GVSGHCPSIC 

       190        200        210 
MATPSTHSGH GGHGSIFSIS GQLSAGRRHE TTSSIASLI 

« Hide

References

[1]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].
[2]"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].
Tissue: Colon.
[3]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-107.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
CH471059 Genomic DNA. Translation: EAX07110.1.
CH471059 Genomic DNA. Translation: EAX07111.1.
BC016858 mRNA. Translation: AAH16858.1.
CCDSCCDS480.1.
RefSeqNP_653227.1. NM_144626.2.
XP_005270523.1. XM_005270466.1.
XP_005270524.1. XM_005270467.2.
UniGeneHs.104476.

3D structure databases

ProteinModelPortalQ96AQ2.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM74731141.

Proteomic databases

PRIDEQ96AQ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000432792; ENSP00000429275; ENSG00000179178.
ENST00000439858; ENSP00000429775; ENSG00000179178.
GeneID128218.
KEGGhsa:128218.
UCSCuc001cir.3. human.

Organism-specific databases

CTD128218.
GeneCardsGC01P043735.
HGNCHGNC:28275. TMEM125.
HPAHPA015796.
neXtProtNX_Q96AQ2.
PharmGKBPA143485644.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000154606.
HOVERGENHBG080613.
InParanoidQ96AQ2.
OMAMNCIRSR.
PhylomeDBQ96AQ2.
TreeFamTF332758.

Gene expression databases

BgeeQ96AQ2.
CleanExHS_TMEM125.
GenevestigatorQ96AQ2.

Family and domain databases

InterProIPR028165. TMEM125.
[Graphical view]
PfamPF15109. TMEM125. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi128218.
NextBio82246.
PROQ96AQ2.

Entry information

Entry nameTM125_HUMAN
AccessionPrimary (citable) accession number: Q96AQ2
Secondary accession number(s): D3DPX1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 75 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

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 1

Human chromosome 1: entries, gene names and cross-references to MIM