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Q969K7

- TMM54_HUMAN

UniProt

Q969K7 - TMM54_HUMAN

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Protein

Transmembrane protein 54

Gene

TMEM54

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 54
Alternative name(s):
Beta-casein-like protein
Protein CAC-1
Gene namesi
Name:TMEM54
Synonyms:BCLP, CAC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:24143. TMEM54.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence AnalysisAdd
BLAST
Transmembranei62 – 8221HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei155 – 17521HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670770.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 222222Transmembrane protein 54PRO_0000226989Add
BLAST

Proteomic databases

PaxDbiQ969K7.
PRIDEiQ969K7.

PTM databases

PhosphoSiteiQ969K7.

Expressioni

Tissue specificityi

Ubiquitously expressed in cancer cell lines.1 Publication

Gene expression databases

BgeeiQ969K7.
CleanExiHS_TMEM54.
GenevestigatoriQ969K7.

Interactioni

Protein-protein interaction databases

BioGridi125247. 6 interactions.
IntActiQ969K7. 3 interactions.
MINTiMINT-7969274.
STRINGi9606.ENSP00000362562.

Structurei

3D structure databases

ProteinModelPortaliQ969K7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM54 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41884.
GeneTreeiENSGT00390000004700.
HOGENOMiHOG000231088.
HOVERGENiHBG098567.
InParanoidiQ969K7.
OMAiWGKSSHH.
OrthoDBiEOG7288SM.
PhylomeDBiQ969K7.
TreeFamiTF332771.

Family and domain databases

InterProiIPR020977. Beta-casein-like.
[Graphical view]
PfamiPF12304. BCLP. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q969K7-1) [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
MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ
60 70 80 90 100
DAVALQYCVV NILSVTSAIV VITSGIAAIV LSRYLPSTPL RWTVFSSSVA
110 120 130 140 150
CALLSLTCAL GLLASIAMTF ATQGKALLAA CTFGSSELLA LAPDCPFDPT
160 170 180 190 200
RIYSSSLCLW GIALVLCVAE NVFAVRCAQL THQLLELRPW WGKSSHHMMR
210 220
ENPELVEGRD LLSCTSSEPL TL
Length:222
Mass (Da):23,772
Last modified:December 1, 2001 - v1
Checksum:iBD6361E5AFD816C0
GO
Isoform 2 (identifier: Q969K7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-90: Missing.

Show »
Length:202
Mass (Da):21,719
Checksum:iDC8F68B9E5ACED42
GO
Isoform 3 (identifier: Q969K7-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:169
Mass (Da):18,303
Checksum:i6C47BA8F0618B7EA
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti144 – 1441D → Y in BAA87335. (PubMed:9500206)Curated
Sequence conflicti172 – 1721V → G in BAA87335. (PubMed:9500206)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101L → F.
Corresponds to variant rs10914632 [ dbSNP | Ensembl ].
VAR_052342

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei71 – 12353Missing in isoform 3. 1 PublicationVSP_017533Add
BLAST
Alternative sequencei71 – 9020Missing in isoform 2. 1 PublicationVSP_017532Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS371.1. [Q969K7-1]
PIRiJC7697.
RefSeqiNP_277039.1. NM_033504.2. [Q969K7-1]
UniGeneiHs.534521.

Genome annotation databases

EnsembliENST00000329151; ENSP00000328630; ENSG00000121900. [Q969K7-3]
ENST00000373463; ENSP00000362562; ENSG00000121900. [Q969K7-1]
GeneIDi113452.
KEGGihsa:113452.
UCSCiuc001bwi.1. human. [Q969K7-1]
uc001bwj.1. human. [Q969K7-3]
uc001bwk.1. human. [Q969K7-2]

Polymorphism databases

DMDMi74760680.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSi CCDS371.1. [Q969K7-1 ]
PIRi JC7697.
RefSeqi NP_277039.1. NM_033504.2. [Q969K7-1 ]
UniGenei Hs.534521.

3D structure databases

ProteinModelPortali Q969K7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125247. 6 interactions.
IntActi Q969K7. 3 interactions.
MINTi MINT-7969274.
STRINGi 9606.ENSP00000362562.

PTM databases

PhosphoSitei Q969K7.

Polymorphism databases

DMDMi 74760680.

Proteomic databases

PaxDbi Q969K7.
PRIDEi Q969K7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329151 ; ENSP00000328630 ; ENSG00000121900 . [Q969K7-3 ]
ENST00000373463 ; ENSP00000362562 ; ENSG00000121900 . [Q969K7-1 ]
GeneIDi 113452.
KEGGi hsa:113452.
UCSCi uc001bwi.1. human. [Q969K7-1 ]
uc001bwj.1. human. [Q969K7-3 ]
uc001bwk.1. human. [Q969K7-2 ]

Organism-specific databases

CTDi 113452.
GeneCardsi GC01M033360.
HGNCi HGNC:24143. TMEM54.
neXtProti NX_Q969K7.
PharmGKBi PA142670770.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41884.
GeneTreei ENSGT00390000004700.
HOGENOMi HOG000231088.
HOVERGENi HBG098567.
InParanoidi Q969K7.
OMAi WGKSSHH.
OrthoDBi EOG7288SM.
PhylomeDBi Q969K7.
TreeFami TF332771.

Miscellaneous databases

ChiTaRSi TMEM54. human.
GenomeRNAii 113452.
NextBioi 78844.
PROi Q969K7.

Gene expression databases

Bgeei Q969K7.
CleanExi HS_TMEM54.
Genevestigatori Q969K7.

Family and domain databases

InterProi IPR020977. Beta-casein-like.
[Graphical view ]
Pfami PF12304. BCLP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiTMM54_HUMAN
AccessioniPrimary (citable) accession number: Q969K7
Secondary accession number(s): Q6UV18, Q8IVD0, Q9UM12
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 91 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 1
    Human chromosome 1: 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

External Data

Dasty 3