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Q8N6K7

- SAMD3_HUMAN

UniProt

Q8N6K7 - SAMD3_HUMAN

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Protein

Sterile alpha motif domain-containing protein 3

Gene

SAMD3

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

Names & Taxonomyi

Protein namesi
Recommended name:
Sterile alpha motif domain-containing protein 3
Short name:
SAM domain-containing protein 3
Gene namesi
Name:SAMD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21574. SAMD3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134880481.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Sterile alpha motif domain-containing protein 3PRO_0000279496Add
BLAST

Proteomic databases

PaxDbiQ8N6K7.
PRIDEiQ8N6K7.

PTM databases

PhosphoSiteiQ8N6K7.

Expressioni

Gene expression databases

BgeeiQ8N6K7.
CleanExiHS_SAMD3.
ExpressionAtlasiQ8N6K7. baseline and differential.
GenevestigatoriQ8N6K7.

Organism-specific databases

HPAiHPA028992.
HPA028993.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KDM1AO603412EBI-748741,EBI-710124

Protein-protein interaction databases

BioGridi127533. 4 interactions.
IntActiQ8N6K7. 3 interactions.
MINTiMINT-1482339.
STRINGi9606.ENSP00000296977.

Structurei

3D structure databases

ProteinModelPortaliQ8N6K7.
SMRiQ8N6K7. Positions 7-65.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 7168SAMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG128347.
GeneTreeiENSGT00390000012396.
HOGENOMiHOG000154251.
HOVERGENiHBG083919.
InParanoidiQ8N6K7.
OMAiTDIYKKT.
OrthoDBiEOG7TF78M.
PhylomeDBiQ8N6K7.
TreeFamiTF336040.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamiPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N6K7-1) [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
METWSVEQVC SWLVEKNLGE LVHRFQEEEV SGAALLALND RMVQQLVKKI
60 70 80 90 100
GHQAVLMDLI KKYKQNTQGL KSPENPKKAA LVMQTEAARD YRDEESSSPA
110 120 130 140 150
RHGEQMPSFY PAENLDNGLI DQRVLKQRRN VKQILARSKA LQWTKSYVLP
160 170 180 190 200
EFPYDVKCML AEQKCPDHSM RIRIIEFLQA DMTKYLEGSL YPSTQQYNDV
210 220 230 240 250
VNALLQAHPF LDEDGCGFFL WKRALKDRFK YVRRPIEDDE QVIRNKCKFG
260 270 280 290 300
HRRGQTRKSL ADIRFDEIKL VQIKEEAVCF DSELDEHIKW FQQEYVKTEK
310 320 330 340 350
DWREIDKRMS QTLEIRRKMI GSRTPLKDIL KLFPFLKCPY QMFREFQLLT
360 370 380 390 400
RTDIYKKTRH ILESYSENIL TSFSVVDNPI NIVLQEKMKH YTDEDMLKYM
410 420 430 440 450
KMTATCLLLP DVFGDDPSLF VIMNEQVQVS TPVLEVKNPF NMEVCEFSLY
460 470 480 490 500
LERERLTKVD DCVTALAALV AAFHVFRIEC PRRLSQTFNF LETLIFDMHS
510 520
PYFPSLKEKE NEVGFQHPLT
Length:520
Mass (Da):61,237
Last modified:March 6, 2007 - v2
Checksum:i660A7C0CF9CC6261
GO
Isoform 2 (identifier: Q8N6K7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-221: FLW → AGV
     222-520: Missing.

Note: No experimental confirmation available.

Show »
Length:221
Mass (Da):25,303
Checksum:i8410F79CB4485F26
GO
Isoform 3 (identifier: Q8N6K7-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRSSKLQSPSPSQEKQGVYLQETAM

Show »
Length:544
Mass (Da):63,899
Checksum:i5BB1EBB0E561D42A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti276 – 2761E → V in BAG63582. (PubMed:14702039)Curated
Sequence conflicti472 – 4721A → G in BAC03765. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941E → K.1 Publication
Corresponds to variant rs17852709 [ dbSNP | Ensembl ].
VAR_030910
Natural varianti181 – 1811D → N.1 Publication
VAR_069418

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MRSSKLQSPSPSQEKQGVYL QETAM in isoform 3. 1 PublicationVSP_055738
Alternative sequencei219 – 2213FLW → AGV in isoform 2. 1 PublicationVSP_023459
Alternative sequencei222 – 520299Missing in isoform 2. 1 PublicationVSP_023460Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091351 mRNA. Translation: BAC03644.1.
AK091882 mRNA. Translation: BAC03765.1.
AK302228 mRNA. Translation: BAG63582.1.
AL355581 Genomic DNA. Translation: CAI95328.1.
AL121947 Genomic DNA. No translation available.
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.
CCDSiCCDS34539.1. [Q8N6K7-1]
CCDS64525.1. [Q8N6K7-3]
RefSeqiNP_001017373.2. NM_001017373.3. [Q8N6K7-1]
NP_001245204.1. NM_001258275.2. [Q8N6K7-1]
NP_001264114.1. NM_001277185.1. [Q8N6K7-3]
UniGeneiHs.440508.

Genome annotation databases

EnsembliENST00000324172; ENSP00000324874; ENSG00000164483. [Q8N6K7-2]
ENST00000368134; ENSP00000357116; ENSG00000164483. [Q8N6K7-1]
ENST00000437477; ENSP00000391163; ENSG00000164483. [Q8N6K7-1]
ENST00000439090; ENSP00000403565; ENSG00000164483. [Q8N6K7-1]
ENST00000457563; ENSP00000402092; ENSG00000164483. [Q8N6K7-3]
GeneIDi154075.
KEGGihsa:154075.
UCSCiuc003qbw.4. human. [Q8N6K7-1]
uc003qby.4. human. [Q8N6K7-2]

Polymorphism databases

DMDMi147668009.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091351 mRNA. Translation: BAC03644.1 .
AK091882 mRNA. Translation: BAC03765.1 .
AK302228 mRNA. Translation: BAG63582.1 .
AL355581 Genomic DNA. Translation: CAI95328.1 .
AL121947 Genomic DNA. No translation available.
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 .
CCDSi CCDS34539.1. [Q8N6K7-1 ]
CCDS64525.1. [Q8N6K7-3 ]
RefSeqi NP_001017373.2. NM_001017373.3. [Q8N6K7-1 ]
NP_001245204.1. NM_001258275.2. [Q8N6K7-1 ]
NP_001264114.1. NM_001277185.1. [Q8N6K7-3 ]
UniGenei Hs.440508.

3D structure databases

ProteinModelPortali Q8N6K7.
SMRi Q8N6K7. Positions 7-65.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127533. 4 interactions.
IntActi Q8N6K7. 3 interactions.
MINTi MINT-1482339.
STRINGi 9606.ENSP00000296977.

PTM databases

PhosphoSitei Q8N6K7.

Polymorphism databases

DMDMi 147668009.

Proteomic databases

PaxDbi Q8N6K7.
PRIDEi Q8N6K7.

Protocols and materials databases

DNASUi 154075.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324172 ; ENSP00000324874 ; ENSG00000164483 . [Q8N6K7-2 ]
ENST00000368134 ; ENSP00000357116 ; ENSG00000164483 . [Q8N6K7-1 ]
ENST00000437477 ; ENSP00000391163 ; ENSG00000164483 . [Q8N6K7-1 ]
ENST00000439090 ; ENSP00000403565 ; ENSG00000164483 . [Q8N6K7-1 ]
ENST00000457563 ; ENSP00000402092 ; ENSG00000164483 . [Q8N6K7-3 ]
GeneIDi 154075.
KEGGi hsa:154075.
UCSCi uc003qbw.4. human. [Q8N6K7-1 ]
uc003qby.4. human. [Q8N6K7-2 ]

Organism-specific databases

CTDi 154075.
GeneCardsi GC06M130465.
HGNCi HGNC:21574. SAMD3.
HPAi HPA028992.
HPA028993.
neXtProti NX_Q8N6K7.
PharmGKBi PA134880481.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG128347.
GeneTreei ENSGT00390000012396.
HOGENOMi HOG000154251.
HOVERGENi HBG083919.
InParanoidi Q8N6K7.
OMAi TDIYKKT.
OrthoDBi EOG7TF78M.
PhylomeDBi Q8N6K7.
TreeFami TF336040.

Miscellaneous databases

GenomeRNAii 154075.
NextBioi 35535360.
PROi Q8N6K7.

Gene expression databases

Bgeei Q8N6K7.
CleanExi HS_SAMD3.
ExpressionAtlasi Q8N6K7. baseline and differential.
Genevestigatori Q8N6K7.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
InterProi IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view ]
Pfami PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS50105. SAM_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 3).
    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.
    , 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. 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. Cited for: VARIANT ASN-181.

Entry informationi

Entry nameiSAMD3_HUMAN
AccessioniPrimary (citable) accession number: Q8N6K7
Secondary accession number(s): B4DY20
, E1P576, J3KQK4, Q4VXD8, Q8NAY1, Q8NB96
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: November 26, 2014
This is version 89 of the entry and version 2 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
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3