Q96NU1 (SAM11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sterile alpha motif domain-containing protein 11
Short name=SAM domain-containing protein 11

Gene names

Name:

SAMD11

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

General annotation (Comments)

Function	May play a role in photoreceptor development By similarity.
Subunit structure	Homodimer By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 SAM (sterile alpha motif) domain.
Sequence caution	The sequence AAH24295.1 differs from that shown. Reason: Frameshift at position 129. The sequence BAB70781.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI15563.3 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAI15564.3 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 3 (identifier: Q96NU1-3)

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.

Note: No experimental confirmation available.

Isoform 1 (identifier: Q96NU1-1)

The sequence of this isoform differs from the canonical sequence as follows:
     220-235: Missing.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q96NU1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     601-601: V → VRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQV

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 681	681	Sterile alpha motif domain-containing protein 11		PRO_0000279500
Regions
	Domain	543 – 608	66	SAM
Natural variations
	Alternative sequence	220 – 235	16	Missing in isoform 1.		VSP_030518
	Alternative sequence	601	1	V → VRRWGVRSGSPDHSWAESSG WVCDSPHQAISLQV in isoform 2.		VSP_023462
Experimental info
	Sequence conflict	129	1	C → L in AAH24295. Ref.2
	Sequence conflict	343	1	W → R in AAH24295. Ref.2
	Sequence conflict	343	1	W → R in AAH33213. Ref.2
	Sequence conflict	343	1	W → R in BAB70781. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 [UniParc]. Last modified January 15, 2008. Version 3. Checksum: 5ED0792A8997DFF7	FASTA	681	72,708
	10 20 30 40 50 60 MSKGILQVHP PICDCPGCRI SSPVNRGRLA DKRTVALPAA RNLKKERTPS FSASDGDSDG 70 80 90 100 110 120 SGPTCGRRPG LKQEDGPHIR IMKRRVHTHW DVNISFREAS CSQDGNLPTL ISSVHRSRHL 130 140 150 160 170 180 VMPEHQSRCE FQRGSLEIGL RPAGDLLGKR LGRSPRISSD CFSEKRARSE SPQEALLLPR 190 200 210 220 230 240 ELGPSMAPED HYRRLVSALS EASTFEDPQR LYHLGLPSHG EDPPWHDPPH HLPSHDLLRV 250 260 270 280 290 300 RQEVAAAALR GPSGLEAHLP SSTAGQRRKQ GLAQHREGAA PAAAPSFSER ELPQPPPLLS 310 320 330 340 350 360 PQNAPHVALG PHLRPPFLGV PSALCQTPGY GFLPPAQAEM FAWQQELLRK QNLARLELPA 370 380 390 400 410 420 DLLRQKELES ARPQLLAPET ALRPNDGAEE LQRRGALLVL NHGAAPLLAL PPQGPPGSGP 430 440 450 460 470 480 PTPSRDSARR APRKGGPGPA SARPSESKEM TGARLWAQDG SEDEPPKDSD GEDPETAAVG 490 500 510 520 530 540 CRGPTPGQAP AGGAGAEGKG LFPGSTLPLG FPYAVSPYFH TGAVGGLSMD GEEAPAPEDV 550 560 570 580 590 600 TKWTVDDVCS FVGGLSGCGE YTRVFREQGI DGETLPLLTE EHLLTNMGLK LGPALKIRAQ 610 620 630 640 650 660 VARRLGRVFY VASFPVALPL QPPTLRAPER ELGTGEQPLS PTTATSPYGG GHALAGQTSP 670 680 KQENGTLALL PGAPDPSQPL C
	Isoform 1 [UniParc]. Checksum: DD27AA0A40248F50	FASTA	665	70,871
	10 20 30 40 50 60 MSKGILQVHP PICDCPGCRI SSPVNRGRLA DKRTVALPAA RNLKKERTPS FSASDGDSDG 70 80 90 100 110 120 SGPTCGRRPG LKQEDGPHIR IMKRRVHTHW DVNISFREAS CSQDGNLPTL ISSVHRSRHL 130 140 150 160 170 180 VMPEHQSRCE FQRGSLEIGL RPAGDLLGKR LGRSPRISSD CFSEKRARSE SPQEALLLPR 190 200 210 220 230 240 ELGPSMAPED HYRRLVSALS EASTFEDPQR LYHLGLPSHD LLRVRQEVAA AALRGPSGLE 250 260 270 280 290 300 AHLPSSTAGQ RRKQGLAQHR EGAAPAAAPS FSERELPQPP PLLSPQNAPH VALGPHLRPP 310 320 330 340 350 360 FLGVPSALCQ TPGYGFLPPA QAEMFAWQQE LLRKQNLARL ELPADLLRQK ELESARPQLL 370 380 390 400 410 420 APETALRPND GAEELQRRGA LLVLNHGAAP LLALPPQGPP GSGPPTPSRD SARRAPRKGG 430 440 450 460 470 480 PGPASARPSE SKEMTGARLW AQDGSEDEPP KDSDGEDPET AAVGCRGPTP GQAPAGGAGA 490 500 510 520 530 540 EGKGLFPGST LPLGFPYAVS PYFHTGAVGG LSMDGEEAPA PEDVTKWTVD DVCSFVGGLS 550 560 570 580 590 600 GCGEYTRVFR EQGIDGETLP LLTEEHLLTN MGLKLGPALK IRAQVARRLG RVFYVASFPV 610 620 630 640 650 660 ALPLQPPTLR APERELGTGE QPLSPTTATS PYGGGHALAG QTSPKQENGT LALLPGAPDP SQPLC
	Isoform 2 [UniParc]. Checksum: 1009FCCAB19CCD46	FASTA	714	76,369
	10 20 30 40 50 60 MSKGILQVHP PICDCPGCRI SSPVNRGRLA DKRTVALPAA RNLKKERTPS FSASDGDSDG 70 80 90 100 110 120 SGPTCGRRPG LKQEDGPHIR IMKRRVHTHW DVNISFREAS CSQDGNLPTL ISSVHRSRHL 130 140 150 160 170 180 VMPEHQSRCE FQRGSLEIGL RPAGDLLGKR LGRSPRISSD CFSEKRARSE SPQEALLLPR 190 200 210 220 230 240 ELGPSMAPED HYRRLVSALS EASTFEDPQR LYHLGLPSHG EDPPWHDPPH HLPSHDLLRV 250 260 270 280 290 300 RQEVAAAALR GPSGLEAHLP SSTAGQRRKQ GLAQHREGAA PAAAPSFSER ELPQPPPLLS 310 320 330 340 350 360 PQNAPHVALG PHLRPPFLGV PSALCQTPGY GFLPPAQAEM FAWQQELLRK QNLARLELPA 370 380 390 400 410 420 DLLRQKELES ARPQLLAPET ALRPNDGAEE LQRRGALLVL NHGAAPLLAL PPQGPPGSGP 430 440 450 460 470 480 PTPSRDSARR APRKGGPGPA SARPSESKEM TGARLWAQDG SEDEPPKDSD GEDPETAAVG 490 500 510 520 530 540 CRGPTPGQAP AGGAGAEGKG LFPGSTLPLG FPYAVSPYFH TGAVGGLSMD GEEAPAPEDV 550 560 570 580 590 600 TKWTVDDVCS FVGGLSGCGE YTRVFREQGI DGETLPLLTE EHLLTNMGLK LGPALKIRAQ 610 620 630 640 650 660 VRRWGVRSGS PDHSWAESSG WVCDSPHQAI SLQVARRLGR VFYVASFPVA LPLQPPTLRA 670 680 690 700 710 PERELGTGEQ PLSPTTATSP YGGGHALAGQ TSPKQENGTL ALLPGAPDPS QPLC

References

[1]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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] OF 100-681 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 186-681 (ISOFORM 3). Tissue: Brain and Eye.
[3]	"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] OF 174-681 (ISOFORM 2).

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL645608 Genomic DNA. Translation: CAI15563.3. Sequence problems. AL645608 Genomic DNA. Translation: CAI15564.3. Sequence problems. AL645608 Genomic DNA. Translation: CAM12827.2. BC024295 mRNA. Translation: AAH24295.1. Frameshift. BC033213 mRNA. Translation: AAH33213.1. AK054643 mRNA. Translation: BAB70781.1. Different initiation.
IPI	IPI00166122. IPI00289432. IPI00549744.
RefSeq	NP_689699.2. NM_152486.2.
UniGene	Hs.335293.
3D structure databases
HSSP	HSSP built from PDB template 1PK1 based on UniProtKB P39769.
ProteinModelPortal	Q96NU1.
SMR	Q96NU1. Positions 538-603.
ModBase	Search...
PTM databases
PhosphoSite	Q96NU1.
Polymorphism databases
DMDM	166215037.
Proteomic databases
PRIDE	Q96NU1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342066; ENSP00000342313; ENSG00000187634.
GeneID	148398.
KEGG	hsa:148398.
UCSC	uc001abw.1. human. uc001abx.1. human.
Organism-specific databases
CTD	148398.
GeneCards	GC01P000850.
HGNC	HGNC:28706. SAMD11.
neXtProt	NX_Q96NU1.
PharmGKB	PA134968665.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04074.
GeneTree	ENSGT00550000074459.
HOVERGEN	HBG059816.
InParanoid	Q96NU1.
OMA	HQSRCEF.
OrthoDB	EOG45MN4Z.
Gene expression databases
ArrayExpress	Q96NU1.
Bgee	Q96NU1.
CleanEx	HS_SAMD11.
Genevestigator	Q96NU1.
Family and domain databases
InterPro	IPR001660. SAM. IPR013761. SAM/pointed. IPR011510. SAM_2. [Graphical view]
Gene3D	G3DSA:1.10.150.50. SAM_type. 1 hit.
Pfam	PF07647. SAM_2. 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	85923.

Entry information

Entry name

SAM11_HUMAN

Accession

Primary (citable) accession number: Q96NU1
Secondary accession number(s): A2AA76 , Q5SV96, Q5SV99, Q5SVA0, Q8N195, Q8TB59

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
Last sequence update:	January 15, 2008
Last modified:	January 25, 2012
This is version 67 of the entry and version 3 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.