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Q9NPB0

- SMDC1_HUMAN

UniProt

Q9NPB0 - SMDC1_HUMAN

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Protein

SAYSvFN domain-containing protein 1

Gene

SAYSD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
SAYSvFN domain-containing protein 1
Gene namesi
Name:SAYSD1
Synonyms:C6orf64
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21025. SAYSD1.

Subcellular locationi

Cytoplasmic vesicle membrane 1 Publication; Single-pass membrane protein 1 Publication

GO - Cellular componenti

  1. cytoplasmic vesicle Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
  3. intracellular membrane-bounded organelle Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA128394689.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 183183SAYSvFN domain-containing protein 1PRO_0000089517Add
BLAST

Proteomic databases

MaxQBiQ9NPB0.
PaxDbiQ9NPB0.
PRIDEiQ9NPB0.

PTM databases

PhosphoSiteiQ9NPB0.

Expressioni

Gene expression databases

BgeeiQ9NPB0.
CleanExiHS_C6orf64.
GenevestigatoriQ9NPB0.

Organism-specific databases

HPAiHPA007959.

Interactioni

Protein-protein interaction databases

BioGridi120891. 2 interactions.
IntActiQ9NPB0. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9NPB0.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei106 – 12621HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi6 – 4439Ala-richAdd
BLAST

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG248608.
GeneTreeiENSGT00390000004313.
HOGENOMiHOG000044257.
HOVERGENiHBG081100.
InParanoidiQ9NPB0.
OMAiFLVWKPR.
OrthoDBiEOG7JX36V.
PhylomeDBiQ9NPB0.
TreeFamiTF106140.

Family and domain databases

InterProiIPR019387. Uncharacterised_SAYSvFN.
[Graphical view]
PfamiPF10260. SAYSvFN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NPB0-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MEQRLAEFRA ARKRAGLAAQ PPAASQGAQT PGEKAEAAAT LKAAPGWLKR
60 70 80 90 100
FLVWKPRPAS ARAQPGLVQE AAQPQGSTSE TPWNTAIPLP SCWDQSFLTN
110 120 130 140 150
ITFLKVLLWL VLLGLFVELE FGLAYFVLSL FYWMYVGTRG PEEKKEGEKS
160 170 180
AYSVFNPGCE AIQGTLTAEQ LERELQLRPL AGR
Length:183
Mass (Da):20,163
Last modified:October 1, 2000 - v1
Checksum:i9C0B2CAB5F638A46
GO
Isoform 2 (identifier: Q9NPB0-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:116
Mass (Da):13,092
Checksum:i5E8379D37A27244C
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6767Missing in isoform 2. 1 PublicationVSP_014597Add
BLAST
Alternative sequencei68 – 692VQ → ML in isoform 2. 1 PublicationVSP_014598

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS4840.1. [Q9NPB0-1]
RefSeqiNP_060792.1. NM_018322.1. [Q9NPB0-1]
XP_005249279.1. XM_005249222.1. [Q9NPB0-2]
UniGeneiHs.58382.

Genome annotation databases

EnsembliENST00000229903; ENSP00000229903; ENSG00000112167. [Q9NPB0-1]
ENST00000373249; ENSP00000362346; ENSG00000112167. [Q9NPB0-2]
GeneIDi55776.
KEGGihsa:55776.
UCSCiuc003ook.1. human. [Q9NPB0-1]

Polymorphism databases

DMDMi68565322.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS4840.1. [Q9NPB0-1 ]
RefSeqi NP_060792.1. NM_018322.1. [Q9NPB0-1 ]
XP_005249279.1. XM_005249222.1. [Q9NPB0-2 ]
UniGenei Hs.58382.

3D structure databases

ProteinModelPortali Q9NPB0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120891. 2 interactions.
IntActi Q9NPB0. 1 interaction.

PTM databases

PhosphoSitei Q9NPB0.

Polymorphism databases

DMDMi 68565322.

Proteomic databases

MaxQBi Q9NPB0.
PaxDbi Q9NPB0.
PRIDEi Q9NPB0.

Protocols and materials databases

DNASUi 55776.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000229903 ; ENSP00000229903 ; ENSG00000112167 . [Q9NPB0-1 ]
ENST00000373249 ; ENSP00000362346 ; ENSG00000112167 . [Q9NPB0-2 ]
GeneIDi 55776.
KEGGi hsa:55776.
UCSCi uc003ook.1. human. [Q9NPB0-1 ]

Organism-specific databases

CTDi 55776.
GeneCardsi GC06M039259.
HGNCi HGNC:21025. SAYSD1.
HPAi HPA007959.
neXtProti NX_Q9NPB0.
PharmGKBi PA128394689.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG248608.
GeneTreei ENSGT00390000004313.
HOGENOMi HOG000044257.
HOVERGENi HBG081100.
InParanoidi Q9NPB0.
OMAi FLVWKPR.
OrthoDBi EOG7JX36V.
PhylomeDBi Q9NPB0.
TreeFami TF106140.

Miscellaneous databases

ChiTaRSi SAYSD1. human.
GenomeRNAii 55776.
NextBioi 60847.
PROi Q9NPB0.

Gene expression databases

Bgeei Q9NPB0.
CleanExi HS_C6orf64.
Genevestigatori Q9NPB0.

Family and domain databases

InterProi IPR019387. Uncharacterised_SAYSvFN.
[Graphical view ]
Pfami PF10260. SAYSvFN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.

Entry informationi

Entry nameiSMDC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NPB0
Secondary accession number(s): Q9H0D8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM

External Data

Dasty 3