Q9BTV4 (TMM43_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 43

Alternative name(s):
Protein LUMA

Gene names

Name:	TMEM43
ORF Names:	UNQ2564/PRO6244

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	400 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane By similarity.
Subunit structure	Can form oligomers through the transmembrane domains. Interacts with EMD; the interaction retains EMD at the inner nuclear membrane. Interacts with LMNA and LMNB2 By similarity.
Subcellular location	Endoplasmic reticulum By similarity. Nucleus inner membrane; Multi-pass membrane protein. Note: Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen By similarity.
Tissue specificity	Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. Ref.6
Involvement in disease	Familial arrhythmogenic right ventricular dysplasia 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Belongs to the TMEM43 family.
Sequence caution	The sequence BAB55396.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Nucleus
Coding sequence diversity	Polymorphism
Disease	Cardiomyopathy Disease mutation
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Golgi apparatus Inferred from direct assay. Source: LIFEdb endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW nuclear inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 400	400	Transmembrane protein 43		PRO_0000284498
Regions
	Topological domain	1 – 31	31	Nuclear Potential
	Transmembrane	32 – 52	21	Helical; Potential
	Topological domain	53 – 313	261	Perinuclear space Potential
	Transmembrane	314 – 334	21	Helical; Potential
	Topological domain	335 – 345	11	Nuclear Potential
	Transmembrane	346 – 366	21	Helical; Potential
	Topological domain	367 – 368	2	Perinuclear space Potential
	Transmembrane	369 – 389	21	Helical; Potential
	Topological domain	390 – 400	11	Nuclear Potential
Natural variations
	Natural variant	168	1	K → N. Ref.1 Ref.3 Ref.5 Corresponds to variant rs4685076 [ dbSNP | Ensembl ].		VAR_031751
	Natural variant	179	1	M → T. Ref.1 Ref.3 Ref.5 Corresponds to variant rs2340917 [ dbSNP | Ensembl ].		VAR_031752
	Natural variant	233	1	Y → C. Corresponds to variant rs35924492 [ dbSNP | Ensembl ].		VAR_031753
	Natural variant	318	1	A → V. Corresponds to variant rs11924644 [ dbSNP | Ensembl ].		VAR_031754
	Natural variant	358	1	S → L in ARVD5. Ref.8		VAR_044438
Experimental info
	Sequence conflict	196	1	L → P in BAC11350. Ref.4
	Sequence conflict	338	1	P → L in AAH11719. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q9BTV4 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 70FDDD4ED1AA11DF	FASTA	400	44,876
	10 20 30 40 50 60 MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI FTNEGRALKT 70 80 90 100 110 120 ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL LSDPNYGVHL PAVKLRRHVE 130 140 150 160 170 180 MYQWVETEES REYTEDGQVK KETRYSYNTE WRSEIINSKN FDREIGHKNP SAMAVESFMA 190 200 210 220 230 240 TAPFVQIGRF FLSSGLIDKV DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR 250 260 270 280 290 300 VSFSYAGLSG DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE 310 320 330 340 350 360 LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA FAFCVATSLT 370 380 390 400 LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-168 AND THR-179. Tissue: Uterus.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ASN-168 AND THR-179. Tissue: Placenta and Thyroid.
[4]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"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], VARIANTS ASN-168 AND THR-179. Tissue: Brain, Ovary and Uterus.
[6]	"LUMA interacts with emerin and influences its distribution at the inner nuclear membrane." Bengtsson L., Otto H. J. Cell Sci. 121:536-548(2008) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]	"Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene." Merner N.D., Hodgkinson K.A., Haywood A.F.M., Connors S., French V.M., Drenckhahn J.-D., Kupprion C., Ramadanova K., Thierfelder L., McKenna W., Gallagher B., Morris-Larkin L., Bassett A.S., Parfrey P.S., Young T.-L. Am. J. Hum. Genet. 82:809-821(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ARVD5 LEU-358.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136916 mRNA. Translation: CAB66850.1. AY358625 mRNA. Translation: AAQ88988.1. AK027466 mRNA. Translation: BAB55131.1. AK027757 mRNA. Translation: BAB55348.1. AK027827 mRNA. Translation: BAB55396.1. Different initiation. AK027877 mRNA. Translation: BAB55425.1. AK075010 mRNA. Translation: BAC11350.1. BC003125 mRNA. Translation: AAH03125.1. BC008054 mRNA. Translation: AAH08054.2. BC011719 mRNA. Translation: AAH11719.1.
IPI	IPI00301280.
RefSeq	NP_077310.1. NM_024334.2.
UniGene	Hs.517817.
3D structure databases
ProteinModelPortal	Q9BTV4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BTV4. 3 interactions.
MINT	MINT-1401714.
STRING	9606.ENSP00000303992.
PTM databases
PhosphoSite	Q9BTV4.
Polymorphism databases
DMDM	74733151.
Proteomic databases
PaxDb	Q9BTV4.
PeptideAtlas	Q9BTV4.
PRIDE	Q9BTV4.
Protocols and materials databases
DNASU	79188.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306077; ENSP00000303992; ENSG00000170876.
GeneID	79188.
KEGG	hsa:79188.
UCSC	uc003byk.2. human.
Organism-specific databases
CTD	79188.
GeneCards	GC03P014142.
HGNC	HGNC:28472. TMEM43.
HPA	HPA019198.
MIM	604400. phenotype. 612048. gene.
neXtProt	NX_Q9BTV4.
Orphanet	98853. Autosomal dominant Emery-Dreifuss muscular dystrophy. 293899. Familial isolated arrhythmogenic ventricular dysplasia, biventricular form. 293888. Familial isolated arrhythmogenic ventricular dysplasia, left dominant form. 293910. Familial isolated arrhythmogenic ventricular dysplasia, right dominant form.
PharmGKB	PA134871907.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG72539.
HOGENOM	HOG000008164.
HOVERGEN	HBG062125.
InParanoid	Q9BTV4.
OMA	YFYHSEN.
OrthoDB	EOG4J9MZZ.
PhylomeDB	Q9BTV4.
Gene expression databases
ArrayExpress	Q9BTV4.
Bgee	Q9BTV4.
CleanEx	HS_TMEM43.
Genevestigator	Q9BTV4.
Family and domain databases
InterPro	IPR012430. TMEM43_fam. [Graphical view]
PANTHER	PTHR13416. PTHR13416. 1 hit.
Pfam	PF07787. DUF1625. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79188.
NextBio	68188.
SOURCE	Search...

Entry information

Entry name

TMM43_HUMAN

Accession

Primary (citable) accession number: Q9BTV4
Secondary accession number(s): Q7L4N5 , Q8NC30, Q96A63, Q96F19, Q96JX0, Q9H076

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 90 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.