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Q969K7 (TMM54_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. 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 54
Alternative name(s):
Beta-casein-like protein
Protein CAC-1
Gene names
Name:TMEM54
Synonyms:BCLP, CAC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length222 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Ubiquitously expressed in cancer cell lines. Ref.1

Sequence similarities

Belongs to the TMEM54 family.

Sequence caution

The sequence BAA87335.1 differs from that shown. Reason: Frameshift at positions 106, 165, 168 and 222.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   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...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q969K7-1)

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: Q969K7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     71-90: Missing.
Isoform 3 (identifier: Q969K7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     71-123: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 222222Transmembrane protein 54
PRO_0000226989

Regions

Transmembrane22 – 4221Helical; Potential
Transmembrane62 – 8221Helical; Potential
Transmembrane100 – 12021Helical; Potential
Transmembrane155 – 17521Helical; Potential

Natural variations

Alternative sequence71 – 12353Missing in isoform 3.
VSP_017533
Alternative sequence71 – 9020Missing in isoform 2.
VSP_017532
Natural variant1101L → F.
Corresponds to variant rs10914632 [ dbSNP | Ensembl ].
VAR_052342

Experimental info

Sequence conflict1441D → Y in BAA87335. Ref.4
Sequence conflict1721V → G in BAA87335. Ref.4

Sequences

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

Last modified December 1, 2001. Version 1.
Checksum: BD6361E5AFD816C0

FASTA22223,772
        10         20         30         40         50         60 
MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ DAVALQYCVV 

        70         80         90        100        110        120 
NILSVTSAIV VITSGIAAIV LSRYLPSTPL RWTVFSSSVA CALLSLTCAL GLLASIAMTF 

       130        140        150        160        170        180 
ATQGKALLAA CTFGSSELLA LAPDCPFDPT RIYSSSLCLW GIALVLCVAE NVFAVRCAQL 

       190        200        210        220 
THQLLELRPW WGKSSHHMMR ENPELVEGRD LLSCTSSEPL TL 

« Hide

Isoform 2 [UniParc].

Checksum: DC8F68B9E5ACED42
Show »

FASTA20221,719
Isoform 3 [UniParc].

Checksum: 6C47BA8F0618B7EA
Show »

FASTA16918,303

References

« Hide 'large scale' references
[1]"Cloning and characterization of a tumor-associated antigen, beta-casein-like protein."
Baba T., Koizumi M., Suzuki T., Yamanaka I., Yamashita S., Kudo R.
Biochem. Biophys. Res. Commun. 284:340-345(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]Li H., Huang F., Yu R., Zhou G., Ke R., Shen C., Zhong G., Lin L., Yang S.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[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 3).
Tissue: Brain, Colon and Ovary.
[4]"Cloning and characterization of a cDNA fragment coding beta-casein-like protein preferentially expressed in cervical adenocarcinoma cell line CAC-1."
Suzuki T., Koizumi M., Baba T., Kudo R.
Cancer Lett. 124:165-171(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 74-222.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY027543 mRNA. Translation: AAK13050.1.
AY359883 mRNA. Translation: AAQ64021.1.
BC001418 mRNA. Translation: AAH01418.2.
BC013953 mRNA. Translation: AAH13953.1.
BC023260 mRNA. Translation: AAH23260.1.
AB012692 mRNA. Translation: BAA87335.1. Frameshift.
CCDSCCDS371.1. [Q969K7-1]
PIRJC7697.
RefSeqNP_277039.1. NM_033504.2. [Q969K7-1]
UniGeneHs.534521.

3D structure databases

ProteinModelPortalQ969K7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125247. 6 interactions.
IntActQ969K7. 3 interactions.
MINTMINT-7969274.
STRING9606.ENSP00000362562.

PTM databases

PhosphoSiteQ969K7.

Polymorphism databases

DMDM74760680.

Proteomic databases

PaxDbQ969K7.
PRIDEQ969K7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329151; ENSP00000328630; ENSG00000121900. [Q969K7-3]
ENST00000373463; ENSP00000362562; ENSG00000121900. [Q969K7-1]
GeneID113452.
KEGGhsa:113452.
UCSCuc001bwi.1. human. [Q969K7-1]
uc001bwj.1. human. [Q969K7-3]
uc001bwk.1. human. [Q969K7-2]

Organism-specific databases

CTD113452.
GeneCardsGC01M033360.
HGNCHGNC:24143. TMEM54.
neXtProtNX_Q969K7.
PharmGKBPA142670770.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41884.
HOGENOMHOG000231088.
HOVERGENHBG098567.
InParanoidQ969K7.
OMAWGKSSHH.
OrthoDBEOG7288SM.
PhylomeDBQ969K7.
TreeFamTF332771.

Gene expression databases

BgeeQ969K7.
CleanExHS_TMEM54.
GenevestigatorQ969K7.

Family and domain databases

InterProIPR020977. Beta-casein-like.
[Graphical view]
PfamPF12304. BCLP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMEM54. human.
GenomeRNAi113452.
NextBio78844.
PROQ969K7.

Entry information

Entry nameTMM54_HUMAN
AccessionPrimary (citable) accession number: Q969K7
Secondary accession number(s): Q6UV18, Q8IVD0, Q9UM12
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 89 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 1

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