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Q8N6K7 (SAMD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sterile alpha motif domain-containing protein 3

Short name=SAM domain-containing protein 3
Gene names
Name:SAMD3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length520 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 1 SAM (sterile alpha motif) domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionprotein binding

Inferred from physical interaction PubMed 23455924. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

KDM1AO603412EBI-748741,EBI-710124

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N6K7-1)

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: Q8N6K7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     219-221: FLW → AGV
     222-520: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 520520Sterile alpha motif domain-containing protein 3
PRO_0000279496

Regions

Domain4 – 7168SAM

Natural variations

Alternative sequence219 – 2213FLW → AGV in isoform 2.
VSP_023459
Alternative sequence222 – 520299Missing in isoform 2.
VSP_023460
Natural variant941E → K. Ref.4
Corresponds to variant rs17852709 [ dbSNP | Ensembl ].
VAR_030910
Natural variant1811D → N. Ref.5
VAR_069418

Experimental info

Sequence conflict4721A → G in BAC03765. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 6, 2007. Version 2.
Checksum: 660A7C0CF9CC6261

FASTA52061,237
        10         20         30         40         50         60 
METWSVEQVC SWLVEKNLGE LVHRFQEEEV SGAALLALND RMVQQLVKKI GHQAVLMDLI 

        70         80         90        100        110        120 
KKYKQNTQGL KSPENPKKAA LVMQTEAARD YRDEESSSPA RHGEQMPSFY PAENLDNGLI 

       130        140        150        160        170        180 
DQRVLKQRRN VKQILARSKA LQWTKSYVLP EFPYDVKCML AEQKCPDHSM RIRIIEFLQA 

       190        200        210        220        230        240 
DMTKYLEGSL YPSTQQYNDV VNALLQAHPF LDEDGCGFFL WKRALKDRFK YVRRPIEDDE 

       250        260        270        280        290        300 
QVIRNKCKFG HRRGQTRKSL ADIRFDEIKL VQIKEEAVCF DSELDEHIKW FQQEYVKTEK 

       310        320        330        340        350        360 
DWREIDKRMS QTLEIRRKMI GSRTPLKDIL KLFPFLKCPY QMFREFQLLT RTDIYKKTRH 

       370        380        390        400        410        420 
ILESYSENIL TSFSVVDNPI NIVLQEKMKH YTDEDMLKYM KMTATCLLLP DVFGDDPSLF 

       430        440        450        460        470        480 
VIMNEQVQVS TPVLEVKNPF NMEVCEFSLY LERERLTKVD DCVTALAALV AAFHVFRIEC 

       490        500        510        520 
PRRLSQTFNF LETLIFDMHS PYFPSLKEKE NEVGFQHPLT 

« Hide

Isoform 2 [UniParc].

Checksum: 8410F79CB4485F26
Show »

FASTA22125,303

References

« Hide '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. expand/collapse author list , 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: Brain and Kidney.
[2]"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. expand/collapse author list , 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].
[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. expand/collapse author list , 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].
[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 2), VARIANT LYS-94.
Tissue: Brain.
[5]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASN-181.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK091351 mRNA. Translation: BAC03644.1.
AK091882 mRNA. Translation: BAC03765.1.
AL355581 Genomic DNA. Translation: CAI95328.1.
CH471051 Genomic DNA. Translation: EAW48069.1.
CH471051 Genomic DNA. Translation: EAW48070.1.
BC029851 mRNA. Translation: AAH29851.1.
BC119757 mRNA. Translation: AAI19758.1.
BC119758 mRNA. Translation: AAI19759.1.
CCDSCCDS34539.1. [Q8N6K7-1]
RefSeqNP_001017373.2. NM_001017373.3. [Q8N6K7-1]
NP_001245204.1. NM_001258275.2. [Q8N6K7-1]
UniGeneHs.440508.

3D structure databases

ProteinModelPortalQ8N6K7.
SMRQ8N6K7. Positions 2-70.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127533. 3 interactions.
IntActQ8N6K7. 3 interactions.
MINTMINT-1482339.
STRING9606.ENSP00000296977.

PTM databases

PhosphoSiteQ8N6K7.

Polymorphism databases

DMDM147668009.

Proteomic databases

PaxDbQ8N6K7.
PRIDEQ8N6K7.

Protocols and materials databases

DNASU154075.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324172; ENSP00000324874; ENSG00000164483. [Q8N6K7-2]
ENST00000368134; ENSP00000357116; ENSG00000164483. [Q8N6K7-1]
ENST00000437477; ENSP00000391163; ENSG00000164483. [Q8N6K7-1]
ENST00000439090; ENSP00000403565; ENSG00000164483. [Q8N6K7-1]
GeneID154075.
KEGGhsa:154075.
UCSCuc003qbw.4. human. [Q8N6K7-1]
uc003qby.4. human. [Q8N6K7-2]

Organism-specific databases

CTD154075.
GeneCardsGC06M130465.
HGNCHGNC:21574. SAMD3.
HPAHPA028992.
HPA028993.
neXtProtNX_Q8N6K7.
PharmGKBPA134880481.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG128347.
HOGENOMHOG000154251.
HOVERGENHBG083919.
InParanoidQ8N6K7.
PhylomeDBQ8N6K7.
TreeFamTF336040.

Gene expression databases

ArrayExpressQ8N6K7.
BgeeQ8N6K7.
CleanExHS_SAMD3.
GenevestigatorQ8N6K7.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
InterProIPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
PROSITEPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi154075.
NextBio87224.
PROQ8N6K7.

Entry information

Entry nameSAMD3_HUMAN
AccessionPrimary (citable) accession number: Q8N6K7
Secondary accession number(s): E1P576 expand/collapse secondary AC list , Q4VXD8, Q8NAY1, Q8NB96
Entry history
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: July 9, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

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