Q8N6K7 (SAMD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sterile alpha motif domain-containing protein 3
Short name=SAM domain-containing protein 3

Gene names

Name:

SAMD3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	520 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 SAM (sterile alpha motif) domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 520	520	Sterile alpha motif domain-containing protein 3		PRO_0000279496
Regions
	Domain	4 – 71	68	SAM
Natural variations
	Alternative sequence	219 – 221	3	FLW → AGV in isoform 2.		VSP_023459
	Alternative sequence	222 – 520	299	Missing in isoform 2.		VSP_023460
	Natural variant	94	1	E → K. Ref.4 Corresponds to variant rs17852709 [ dbSNP | Ensembl ].		VAR_030910
Experimental info
	Sequence conflict	472	1	A → G in BAC03765. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 6, 2007. Version 2. Checksum: 660A7C0CF9CC6261	FASTA	520	61,237
	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
	Isoform 2 [UniParc]. Checksum: 8410F79CB4485F26	FASTA	221	25,303
	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 DMTKYLEGSL YPSTQQYNDV VNALLQAHPF LDEDGCGFAG V

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: 14702039] [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. , 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: 14574404] [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. , 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-94. Tissue: Brain.
+	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.
IPI	IPI00395958. IPI00941516.
RefSeq	NP_001017373.2. NM_001017373.2. NP_689765.2. NM_152552.2.
UniGene	Hs.440508.
3D structure databases
ProteinModelPortal	Q8N6K7.
SMR	Q8N6K7. Positions 1-62.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N6K7. 1 interaction.
MINT	MINT-1482339.
STRING	Q8N6K7.
PTM databases
PhosphoSite	Q8N6K7.
Polymorphism databases
DMDM	147668009.
Proteomic databases
PRIDE	Q8N6K7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296977; ENSP00000296977; ENSG00000164483. ENST00000457563; ENSP00000402092; ENSG00000164483.
GeneID	154075.
KEGG	hsa:154075.
UCSC	uc003qbv.1. human. uc003qby.1. human.
Organism-specific databases
CTD	154075.
GeneCards	GC06M130465.
HGNC	HGNC:21574. SAMD3.
HPA	HPA028992. HPA028993.
neXtProt	NX_Q8N6K7.
PharmGKB	PA134880481.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07093.
GeneTree	ENSGT00390000012396.
HOVERGEN	HBG083919.
InParanoid	Q8N6K7.
OrthoDB	EOG4CJVGV.
PhylomeDB	Q8N6K7.
Gene expression databases
ArrayExpress	Q8N6K7.
Bgee	Q8N6K7.
CleanEx	HS_SAMD3.
Genevestigator	Q8N6K7.
Family and domain databases
InterPro	IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. [Graphical view]
Gene3D	G3DSA:1.10.150.50. SAM_type. 1 hit.
Pfam	PF00536. SAM_1. 1 hit. [Graphical view]
SMART	SM00454. SAM. 1 hit. [Graphical view]
SUPFAM	SSF47769. SAM_homology. 1 hit.
PROSITE	PS50105. SAM_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	87224.

Entry information

Entry name

SAMD3_HUMAN

Accession

Primary (citable) accession number: Q8N6K7
Secondary accession number(s): E1P576 , Q4VXD8, Q8NAY1, Q8NB96

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
Last sequence update:	March 6, 2007
Last modified:	January 25, 2012
This is version 63 of the entry and version 2 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.