Q9NV96 (CC50A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cell cycle control protein 50A

Alternative name(s):
Transmembrane protein 30A

Gene names

Name:	TMEM30A
Synonyms:	C6orf67, CDC50A

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

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the CDC50/LEM3 family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of protein exit from endoplasmic reticulum Inferred from direct assay PubMed 21914794. Source: UniProtKB protein localization to endosome Inferred from mutant phenotype PubMed 21914794. Source: UniProtKB
Cellular_component	endoplasmic reticulum Inferred from direct assay PubMed 21914794. Source: UniProtKB 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: Q9NV96-1)

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: Q9NV96-2)

The sequence of this isoform differs from the canonical sequence as follows:
     79-114: Missing.

Isoform 3 (identifier: Q9NV96-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 361	361	Cell cycle control protein 50A		PRO_0000244469
Regions
	Transmembrane	50 – 70	21	Helical; Potential
	Transmembrane	326 – 346	21	Helical; Potential
Amino acid modifications
	Modified residue	5	1	Phosphotyrosine By similarity
	Glycosylation	180	1	N-linked (GlcNAc...) Potential
	Glycosylation	190	1	N-linked (GlcNAc...) Ref.8
	Glycosylation	294	1	N-linked (GlcNAc...) Ref.7
Natural variations
	Alternative sequence	1 – 119	119	Missing in isoform 3.		VSP_019567
	Alternative sequence	79 – 114	36	Missing in isoform 2.		VSP_019568

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 64B3F28C3EB7801B	FASTA	361	40,684
	10 20 30 40 50 60 MAMNYNAKDE VDGGPPCAPG GTAKTRRPDN TAFKQQRLPA WQPILTAGTV LPIFFIIGLI 70 80 90 100 110 120 FIPIGIGIFV TSNNIREIEI DYTGTEPSSP CNKCLSPDVT PCFCTINFTL EKSFEGNVFM 130 140 150 160 170 180 YYGLSNFYQN HRRYVKSRDD SQLNGDSSAL LNPSKECEPY RRNEDKPIAP CGAIANSMFN 190 200 210 220 230 240 DTLELFLIGN DSYPIPIALK KKGIAWWTDK NVKFRNPPGG DNLEERFKGT TKPVNWLKPV 250 260 270 280 290 300 YMLDSDPDNN GFINEDFIVW MRTAALPTFR KLYRLIERKS DLHPTLPAGR YSLNVTYNYP 310 320 330 340 350 360 VHYFDGRKRM ILSTISWMGG KNPFLGIAYI AVGSISFLLG VVLLVINHKY RNSSNTADIT I
	Isoform 2 [UniParc]. Checksum: 40D7000253A6787F	FASTA	325	36,713
	10 20 30 40 50 60 MAMNYNAKDE VDGGPPCAPG GTAKTRRPDN TAFKQQRLPA WQPILTAGTV LPIFFIIGLI 70 80 90 100 110 120 FIPIGIGIFV TSNNIREIEG NVFMYYGLSN FYQNHRRYVK SRDDSQLNGD SSALLNPSKE 130 140 150 160 170 180 CEPYRRNEDK PIAPCGAIAN SMFNDTLELF LIGNDSYPIP IALKKKGIAW WTDKNVKFRN 190 200 210 220 230 240 PPGGDNLEER FKGTTKPVNW LKPVYMLDSD PDNNGFINED FIVWMRTAAL PTFRKLYRLI 250 260 270 280 290 300 ERKSDLHPTL PAGRYSLNVT YNYPVHYFDG RKRMILSTIS WMGGKNPFLG IAYIAVGSIS 310 320 FLLGVVLLVI NHKYRNSSNT ADITI
	Isoform 3 [UniParc]. Checksum: 262B426C680712B5	FASTA	242	27,729
	10 20 30 40 50 60 MYYGLSNFYQ NHRRYVKSRD DSQLNGDSSA LLNPSKECEP YRRNEDKPIA PCGAIANSMF 70 80 90 100 110 120 NDTLELFLIG NDSYPIPIAL KKKGIAWWTD KNVKFRNPPG GDNLEERFKG TTKPVNWLKP 130 140 150 160 170 180 VYMLDSDPDN NGFINEDFIV WMRTAALPTF RKLYRLIERK SDLHPTLPAG RYSLNVTYNY 190 200 210 220 230 240 PVHYFDGRKR MILSTISWMG GKNPFLGIAY IAVGSISFLL GVVLLVINHK YRNSSNTADI TI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORMS 1 AND 2). Tissue: Trachea.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Amygdala, Lymph node and Testis.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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].
[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] (ISOFORM 2). Tissue: Brain.
[6]	"Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico." Katoh Y., Katoh M. Oncol. Rep. 12:939-943(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION.
[7]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-294, MASS SPECTROMETRY. Tissue: Liver.
[8]	"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-190, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK001718 mRNA. Translation: BAA91859.1. AK292823 mRNA. Translation: BAF85512.1. AL832815 mRNA. Translation: CAH56262.1. AL832490 mRNA. Translation: CAH56205.1. AL162046 mRNA. Translation: CAB82389.1. AL080250 Genomic DNA. Translation: CAI19900.1. CH471051 Genomic DNA. Translation: EAW48743.1. CH471051 Genomic DNA. Translation: EAW48744.1. CH471051 Genomic DNA. Translation: EAW48745.1. BC009006 mRNA. Translation: AAH09006.1.
IPI	IPI00019381. IPI00062679. IPI00760748.
PIR	T47140.
RefSeq	NP_001137430.1. NM_001143958.1. NP_060717.1. NM_018247.3.
UniGene	Hs.108530.
3D structure databases
ProteinModelPortal	Q9NV96.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NV96. 2 interactions.
MINT	MINT-5006648.
STRING	9606.ENSP00000359067.
PTM databases
PhosphoSite	Q9NV96.
Polymorphism databases
DMDM	74752991.
Proteomic databases
PaxDb	Q9NV96.
PeptideAtlas	Q9NV96.
PRIDE	Q9NV96.
Protocols and materials databases
DNASU	55754.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000230461; ENSP00000230461; ENSG00000112697. ENST00000370050; ENSP00000359067; ENSG00000112697. ENST00000475111; ENSP00000431007; ENSG00000112697.
GeneID	55754.
KEGG	hsa:55754.
UCSC	uc003phw.2. human. uc003phx.2. human.
Organism-specific databases
CTD	55754.
GeneCards	GC06M075962.
HGNC	HGNC:16667. TMEM30A.
HPA	HPA014561.
MIM	611028. gene.
neXtProt	NX_Q9NV96.
PharmGKB	PA134936902.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5035.
HOGENOM	HOG000209057.
HOVERGEN	HBG055537.
InParanoid	Q9NV96.
OMA	NWVKPVY.
OrthoDB	EOG473PRQ.
PhylomeDB	Q9NV96.
Gene expression databases
ArrayExpress	Q9NV96.
Bgee	Q9NV96.
CleanEx	HS_TMEM30A.
Genevestigator	Q9NV96.
GermOnline	ENSG00000112697. Homo sapiens.
Family and domain databases
InterPro	IPR005045. DUF284_TM_euk. [Graphical view]
PANTHER	PTHR10926. PTHR10926. 1 hit.
Pfam	PF03381. CDC50. 1 hit. [Graphical view]
PIRSF	PIRSF015840. DUF284_TM_euk. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	TMEM30A. human.
GenomeRNAi	55754.
NextBio	60753.
SOURCE	Search...

Entry information

Entry name

CC50A_HUMAN

Accession

Primary (citable) accession number: Q9NV96
Secondary accession number(s): A8K9V8 , E1P539, Q658Z3, Q96H09, Q9NSL9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	October 1, 2000
Last modified:	May 29, 2013
This is version 85 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.