Q9NPB0 (SMDC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
SAYSvFN domain-containing protein 1

Gene names

Name:	SAYSD1
Synonyms:	C6orf64

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	183 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location

Cytoplasmic vesicle membrane; Single-pass membrane protein Ref.5.

Ontologies

Keywords
Cellular component	Cytoplasmic vesicle Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasmic vesicle membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NPB0-1)

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: Q9NPB0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.
     68-69: VQ → ML

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 183	183	SAYSvFN domain-containing protein 1		PRO_0000089517
Regions
	Transmembrane	106 – 126	21	Helical; Potential
	Compositional bias	6 – 44	39	Ala-rich
Natural variations
	Alternative sequence	1 – 67	67	Missing in isoform 2.		VSP_014597
	Alternative sequence	68 – 69	2	VQ → ML in isoform 2.		VSP_014598

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 9C0B2CAB5F638A46	FASTA	183	20,163
	10 20 30 40 50 60 MEQRLAEFRA ARKRAGLAAQ PPAASQGAQT PGEKAEAAAT LKAAPGWLKR FLVWKPRPAS 70 80 90 100 110 120 ARAQPGLVQE AAQPQGSTSE TPWNTAIPLP SCWDQSFLTN ITFLKVLLWL VLLGLFVELE 130 140 150 160 170 180 FGLAYFVLSL FYWMYVGTRG PEEKKEGEKS AYSVFNPGCE AIQGTLTAEQ LERELQLRPL AGR
	Isoform 2 [UniParc]. Checksum: 5E8379D37A27244C	FASTA	116	13,092
	10 20 30 40 50 60 MLEAAQPQGS TSETPWNTAI PLPSCWDQSF LTNITFLKVL LWLVLLGLFV ELEFGLAYFV 70 80 90 100 110 LSLFYWMYVG TRGPEEKKEG EKSAYSVFNP GCEAIQGTLT AEQLERELQL RPLAGR

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] (ISOFORM 2). Tissue: Testis.
[2]	"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] (ISOFORM 1). Tissue: Placenta.
[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]	"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 1). Tissue: Testis.
[5]	"Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy." Stadler C., Hjelmare M., Neumann B., Jonasson K., Pepperkok R., Uhlen M., Lundberg E. J. Proteomics 75:2236-2251(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136839 mRNA. Translation: CAB66773.1. AK001963 mRNA. Translation: BAA92004.1. AL035690 Genomic DNA. Translation: CAB71176.1. AL035690 Genomic DNA. Translation: CAD92546.1. BC022007 mRNA. Translation: AAH22007.1.
IPI	IPI00019560. IPI00607797.
RefSeq	NP_060792.1. NM_018322.1.
UniGene	Hs.58382.
3D structure databases
ProteinModelPortal	Q9NPB0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NPB0. 1 interaction.
PTM databases
PhosphoSite	Q9NPB0.
Polymorphism databases
DMDM	68565322.
Proteomic databases
PaxDb	Q9NPB0.
PRIDE	Q9NPB0.
Protocols and materials databases
DNASU	55776.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000229903; ENSP00000229903; ENSG00000112167. ENST00000373249; ENSP00000362346; ENSG00000112167.
GeneID	55776.
KEGG	hsa:55776.
UCSC	uc003ook.1. human.
Organism-specific databases
CTD	55776.
GeneCards	GC06M039076.
HGNC	HGNC:21025. SAYSD1.
HPA	HPA007959.
neXtProt	NX_Q9NPB0.
PharmGKB	PA128394689.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG248608.
HOGENOM	HOG000044257.
HOVERGEN	HBG081100.
InParanoid	Q9NPB0.
OMA	FLVWKPR.
PhylomeDB	Q9NPB0.
Gene expression databases
Bgee	Q9NPB0.
CleanEx	HS_C6orf64.
Genevestigator	Q9NPB0.
GermOnline	ENSG00000112167. Homo sapiens.
Family and domain databases
InterPro	IPR019387. Uncharacterised_SAYSvFN. [Graphical view]
Pfam	PF10260. SAYSvFN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SAYSD1. human.
GenomeRNAi	55776.
NextBio	60847.

Entry information

Entry name

SMDC1_HUMAN

Accession

Primary (citable) accession number: Q9NPB0
Secondary accession number(s): Q9H0D8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
Last sequence update:	October 1, 2000
Last modified:	April 3, 2013
This is version 88 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.