Q9HCN3 (TMM8A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 8A

Alternative name(s):
Protein M83
Transmembrane protein 6
Transmembrane protein 8

Gene names

Name:	TMEM8A
Synonyms:	TMEM6, TMEM8

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	771 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be a cell surface adhesion molecule. May be involved in the maintenance of the resting T-cell state.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Expressed in pancreas, placenta, spleen, liver, kidney, bone marrow, peripheral blood leukocytes and tonsil. Ref.1
Induction	Repressed during activation of CD4+ and CD8+ T-lymphocytes.
Post-translational modification	Glycosylated. Ref.1
Sequence similarities	Belongs to the TMEM8 family. Contains 1 EGF-like domain.
Sequence caution	The sequence BAB14975.1 differs from that shown. Reason: Erroneous termination at position 750. Translated as Ser.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	EGF-like domain Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to plasma membrane Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 34	34	Potential
	Chain	35 – 771	737	Transmembrane protein 8A		PRO_0000022539
Regions
	Topological domain	35 – 545	511	Extracellular Potential
	Transmembrane	546 – 566	21	Helical; Potential
	Topological domain	567 – 568	2	Cytoplasmic Potential
	Transmembrane	569 – 589	21	Helical; Potential
	Topological domain	590 – 605	16	Extracellular Potential
	Transmembrane	606 – 626	21	Helical; Potential
	Topological domain	627 – 629	3	Cytoplasmic Potential
	Transmembrane	630 – 650	21	Helical; Potential
	Topological domain	651 – 653	3	Extracellular Potential
	Transmembrane	654 – 674	21	Helical; Potential
	Topological domain	675 – 690	16	Cytoplasmic Potential
	Transmembrane	691 – 711	21	Helical; Potential
	Topological domain	712 – 717	6	Extracellular Potential
	Transmembrane	718 – 738	21	Helical; Potential
	Topological domain	739 – 771	33	Cytoplasmic Potential
	Domain	497 – 533	37	EGF-like
Amino acid modifications
	Glycosylation	144	1	N-linked (GlcNAc...) Potential
	Glycosylation	407	1	N-linked (GlcNAc...) Potential
	Glycosylation	431	1	N-linked (GlcNAc...) Potential
	Disulfide bond	498 ↔ 508		Potential
	Disulfide bond	502 ↔ 521		Potential
	Disulfide bond	523 ↔ 532		Potential
Natural variations
	Natural variant	136	1	T → A. Ref.1 Ref.3 Ref.5 Corresponds to variant rs11248931 [ dbSNP | Ensembl ].		VAR_025307
	Natural variant	310	1	I → V. Ref.1 Ref.5 Ref.6 Corresponds to variant rs2071915 [ dbSNP | Ensembl ].		VAR_025308
	Natural variant	567	1	R → W. Ref.6 Corresponds to variant rs3743887 [ dbSNP | Ensembl ].		VAR_057810
Experimental info
	Sequence conflict	460	1	P → A in BAB14975. Ref.6
	Sequence conflict	654	1	G → D in BAB16376. Ref.1
	Sequence conflict	687	1	S → L in BAB14975. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q9HCN3 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 2A21814C449724F8	FASTA	771	84,761
	10 20 30 40 50 60 MGRAGTGTGG EAVAAVVAGP LLLLLLARPP PASAGYSGKS EVGLVSEHFS QAPQRLSFYS 70 80 90 100 110 120 WYGSARLFRF RVPPDAVLLR WLLQVSRESG AACTDAEITV HFRSGAPPVI NPLGTSFPDD 130 140 150 160 170 180 TAVQPSFQVG VPLSTTPRSN ASVNVSHPAP GDWFVAAHLP PSSQKIELKG LAPTCAYVFQ 190 200 210 220 230 240 PELLVTRVVE ISIMEPDVPL PQTLLSHPSY LKVFVPDYTR ELLLELRDCV SNGSLGCPVR 250 260 270 280 290 300 LTVGPVTLPS NFQKVLTCTG APWPCRLLLP SPPWDRWLQV TAESLVGPLG TVAFSAVAAL 310 320 330 340 350 360 TACRPRSVTI QPLLQSSQNQ SFNASSGLLS PSPDHQDLGR SGRVDRSPFC LTNYPVTRED 370 380 390 400 410 420 MDVVSVHFQP LDRVSVRVCS DTPSVMRLRL NTGMDSGGSL TISLRANKTE MRNETVVVAC 430 440 450 460 470 480 VNAASPFLGF NTSLNCTTAF FQGYPLSLSA WSRRANLIIP YPETDNWYLS LQLMCPENAE 490 500 510 520 530 540 DCEQAVVHVE TTLYLVPCLN DCGPYGQCLL LRRHSYLYAS CSCKAGWRGW SCTDNSTAQT 550 560 570 580 590 600 VAQQRAATLL LTLSNLMFLA PIAVSVRRFF LVEASVYAYT MFFSTFYHAC DQPGEAVLCI 610 620 630 640 650 660 LSYDTLQYCD FLGSGAAIWV TILCMARLKT VLKYVLFLLG TLVIAMSLQL DRRGMWNMLG 670 680 690 700 710 720 PCLFAFVIMA SMWAYRCGHR RQCYPTSWQR WAFYLLPGVS MASVGIAIYT SMMTSDNYYY 730 740 750 760 770 THSIWHILLA GSAALLLPPP DQPAEPWACS QKFPCHYQIC KNDREELYAV T

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and chromosomal mapping of a novel five-span transmembrane protein gene, M83." Motohashi T., Miyoshi S., Osawa M., Eyre H.J., Sutherland G.R., Matsuda Y., Nakamura Y., Shibuya A., Iwama A., Nakauchi H. Biochem. Biophys. Res. Commun. 276:244-250(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, GLYCOSYLATION, VARIANTS VARIANT ALA-136 AND VAL-310.
[2]	"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16." Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R. Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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. , 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], VARIANT ALA-136.
[4]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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 ALA-136 AND VAL-310. Tissue: Pancreas and Skin.
[6]	"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] OF 192-771, VARIANTS VAL-310 AND TRP-567. Tissue: Coronary artery.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB045292 mRNA. Translation: BAB16376.1. AE006463 Genomic DNA. Translation: AAK61227.1. Z97634 Genomic DNA. Translation: CAI95598.1. CH471112 Genomic DNA. Translation: EAW85824.1. CH471112 Genomic DNA. Translation: EAW85825.1. BC021557 mRNA. Translation: AAH21557.1. BC004276 mRNA. Translation: AAH04276.1. AK024725 mRNA. Translation: BAB14975.1. Sequence problems.
IPI	IPI00289131.
PIR	JC7388.
RefSeq	NP_067082.2. NM_021259.2.
UniGene	Hs.288940.
3D structure databases
ProteinModelPortal	Q9HCN3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000401338.
PTM databases
PhosphoSite	Q9HCN3.
Polymorphism databases
DMDM	296453013.
Proteomic databases
PaxDb	Q9HCN3.
PRIDE	Q9HCN3.
Protocols and materials databases
DNASU	58986.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000431232; ENSP00000401338; ENSG00000129925.
GeneID	58986.
KEGG	hsa:58986.
UCSC	uc002cgu.4. human.
Organism-specific databases
CTD	58986.
GeneCards	GC16M000360.
H-InvDB	HIX0202255.
HGNC	HGNC:17205. TMEM8A.
HPA	HPA051281.
neXtProt	NX_Q9HCN3.
PharmGKB	PA38211.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG77604.
InParanoid	Q9HCN3.
OMA	EITVHFR.
OrthoDB	EOG4H9XK4.
PhylomeDB	Q9HCN3.
Gene expression databases
ArrayExpress	Q9HCN3.
Bgee	Q9HCN3.
CleanEx	HS_TMEM8.
Genevestigator	Q9HCN3.
GermOnline	ENSG00000129925. Homo sapiens.
Family and domain databases
InterPro	IPR021910. DUF3522. IPR000742. EG-like_dom. IPR013032. EGF-like_CS. [Graphical view]
Pfam	PF12036. DUF3522. 1 hit. [Graphical view]
SMART	SM00181. EGF. 1 hit. [Graphical view]
PROSITE	PS00022. EGF_1. 1 hit. PS01186. EGF_2. 1 hit. PS50026. EGF_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	58986.
NextBio	65130.

Entry information

Entry name

TMM8A_HUMAN

Accession

Primary (citable) accession number: Q9HCN3
Secondary accession number(s): D3DU49 , Q4TT35, Q8WU24, Q96S25, Q9BR03, Q9BT97, Q9H7B9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 10, 2002
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 103 of the entry and version 3 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.