Q969K7 (TMM54_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 54

Alternative name(s):
Beta-casein-like protein
Protein CAC-1

Gene names

Name:	TMEM54
Synonyms:	BCLP, CAC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	222 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 222	222	Transmembrane protein 54		PRO_0000226989
Regions
	Transmembrane	22 – 42	21	Helical; Potential
	Transmembrane	62 – 82	21	Helical; Potential
	Transmembrane	100 – 120	21	Helical; Potential
	Transmembrane	155 – 175	21	Helical; Potential
Natural variations
	Alternative sequence	71 – 123	53	Missing in isoform 3.		VSP_017533
	Alternative sequence	71 – 90	20	Missing in isoform 2.		VSP_017532
	Natural variant	110	1	L → F. Corresponds to variant rs10914632 [ dbSNP | Ensembl ].		VAR_052342
Experimental info
	Sequence conflict	144	1	D → Y in BAA87335. Ref.4
	Sequence conflict	172	1	V → G in BAA87335. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: BD6361E5AFD816C0	FASTA	222	23,772
	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
	Isoform 2 [UniParc]. Checksum: DC8F68B9E5ACED42	FASTA	202	21,719
	10 20 30 40 50 60 MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ DAVALQYCVV 70 80 90 100 110 120 NILSVTSAIV RWTVFSSSVA CALLSLTCAL GLLASIAMTF ATQGKALLAA CTFGSSELLA 130 140 150 160 170 180 LAPDCPFDPT RIYSSSLCLW GIALVLCVAE NVFAVRCAQL THQLLELRPW WGKSSHHMMR 190 200 ENPELVEGRD LLSCTSSEPL TL
	Isoform 3 [UniParc]. Checksum: 6C47BA8F0618B7EA	FASTA	169	18,303
	10 20 30 40 50 60 MCLRLGGLSV GDFRKVLMKT GLVLVVLGHV SFITAALFHG TVLRYVGTPQ DAVALQYCVV 70 80 90 100 110 120 NILSVTSAIV GKALLAACTF GSSELLALAP DCPFDPTRIY SSSLCLWGIA LVLCVAENVF 130 140 150 160 AVRCAQLTHQ LLELRPWWGK SSHHMMRENP ELVEGRDLLS CTSSEPLTL

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00056405. IPI00216981. IPI00431662.
PIR	JC7697.
RefSeq	NP_277039.1. NM_033504.2.
UniGene	Hs.534521.
3D structure databases
ProteinModelPortal	Q969K7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q969K7. 2 interactions.
STRING	9606.ENSP00000362562.
PTM databases
PhosphoSite	Q969K7.
Polymorphism databases
DMDM	74760680.
Proteomic databases
PaxDb	Q969K7.
PRIDE	Q969K7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329151; ENSP00000328630; ENSG00000121900. ENST00000373463; ENSP00000362562; ENSG00000121900.
GeneID	113452.
KEGG	hsa:113452.
UCSC	uc001bwi.1. human. uc001bwj.1. human. uc001bwk.1. human.
Organism-specific databases
CTD	113452.
GeneCards	GC01M033360.
HGNC	HGNC:24143. TMEM54.
neXtProt	NX_Q969K7.
PharmGKB	PA142670770.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41884.
HOGENOM	HOG000231088.
HOVERGEN	HBG098567.
InParanoid	Q969K7.
OMA	WGKSSHH.
OrthoDB	EOG4FTW1W.
Gene expression databases
Bgee	Q969K7.
CleanEx	HS_TMEM54.
Genevestigator	Q969K7.
GermOnline	ENSG00000121900. Homo sapiens.
Family and domain databases
InterPro	IPR020977. Beta-casein-like. [Graphical view]
Pfam	PF12304. BCLP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TMEM54. human.
GenomeRNAi	113452.
NextBio	78844.

Entry information

Entry name

TMM54_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.