Q8IVG5 (SAM9L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sterile alpha motif domain-containing protein 9-like
Short name=SAM domain-containing protein 9-like

Gene names

Name:	SAMD9L
Synonyms:	C7orf6, DRIF2, KIAA2005, UEF

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	1584 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Widely expressed in adult and fetal tissues. Variable expression in tumors. Down-regulated in breast cancer. Ref.1
Sequence similarities	Contains 1 SAM (sterile alpha motif) domain.
Sequence caution	The sequence AAI27118.1 differs from that shown. Reason: Frameshift at position 1259. The sequence AAI27119.1 differs from that shown. Reason: Frameshift at position 1516. The sequence BAC04975.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC23102.1 differs from that shown. Reason: Erroneous initiation. The sequence CAD38910.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
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: Q8IVG5-1)

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: Q8IVG5-2)

Also known as: UEF3;

The sequence of this isoform differs from the canonical sequence as follows:
     154-1331: Missing.

Note: No experimental confirmation available. Dubious isoform produced through aberrant splice sites.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1584	1584	Sterile alpha motif domain-containing protein 9-like		PRO_0000279498
Regions
	Domain	14 – 79	66	SAM
Amino acid modifications
	Modified residue	1293	1	Phosphoserine Ref.9
Natural variations
	Alternative sequence	154 – 1331	1178	Missing in isoform 2.		VSP_027875
	Natural variant	266	1	V → I. Corresponds to variant rs10488532 [ dbSNP | Ensembl ].		VAR_030911
	Natural variant	289	1	F → S. Corresponds to variant rs2073793 [ dbSNP | Ensembl ].		VAR_030912
	Natural variant	1137	1	G → A. Corresponds to variant rs17165111 [ dbSNP | Ensembl ].		VAR_030913
	Natural variant	1516	1	N → T. Corresponds to variant rs10282508 [ dbSNP | Ensembl ].		VAR_030914

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 6, 2007. Version 2. Checksum: A9C52976D47AE79B	FASTA	1,584	184,533
	10 20 30 40 50 60 MSKQVSLPEM IKDWTKEHVK KWVNEDLKIN EQYGQILLSE EVTGLVLQEL TEKDLVEMGL 70 80 90 100 110 120 PWGPALLIKR SYNKLNSKSP ESDNHDPGQL DNSKPSKTEH QKNPKHTKKE EENSMSSNID 130 140 150 160 170 180 YDPREIRDIK QEESILMKEN VLDEVANAKH KKKGKLKPEQ LTCMPYPFDQ FHDSHRYIEH 190 200 210 220 230 240 YTLQPETGAL NLIDPIHEFK ALTNTETATE VDIKMKFSNE VFRFASACMN SRTNGTIHFG 250 260 270 280 290 300 VKDKPHGEIV GVKITSKAAF IDHFNVMIKK YFEESEINEA KKCIREPRFV EVLLQNNTPS 310 320 330 340 350 360 DRFVIEVDTI PKHSICNDKY FYIQMQICKD KIWKQNQNLS LFVREGASSR DILANSKQRD 370 380 390 400 410 420 VDFKAFLQNL KSLVASRKEA EEEYGMKAMK KESEGLKLVK LLIGNRDSLD NSYYDWYILV 430 440 450 460 470 480 TNKCHPNQIK HLDFLKEIKW FAVLEFDPES MINGVVKAYK ESRVANLHFP NQYEDKTTNM 490 500 510 520 530 540 WEKISTLNLY QQPSWIFCNG RSDLKSETYK PLEPHLWQRE RASEVRKLIL FLTDENIMTR 550 560 570 580 590 600 GKFLVVFLLL SSVESPGDPL IETFWAFYQA LKGMENMLCI SVNSHIYQRW KDLLQTRMKM 610 620 630 640 650 660 EDELTNHSIS TLNIELVNST ILKLKSVTRS SRRFLPARGS SSVILEKKKE DVLTALEILC 670 680 690 700 710 720 ENECTETDIE KDKSKFLEFK KSKEEHFYRG GKVSWWNFYF SSENYSSDFV KRDSYEKLKD 730 740 750 760 770 780 LIHCWAESPK PIFAKIINLY HHPGCGGTTL AMHVLWDLKK NFRCAVLKNK TTDFAEIAEQ 790 800 810 820 830 840 VINLVTYRAK SHQDYIPVLL LVDDFEEQEN VYFLQNAIHS VLAEKDLRYE KTLVIILNCM 850 860 870 880 890 900 RSRNPDESAK LADSIALNYQ LSSKEQRAFG AKLKEIEKQH KNCENFYSFM IMKSNFDETY 910 920 930 940 950 960 IENVVRNILK GQDVDSKEAQ LISFLALLSS YVTDSTISVS QCEIFLGIIY TSTPWEPESL 970 980 990 1000 1010 1020 EDKMGTYSTL LIKTEVAEYG RYTGVRIIHP LIALYCLKEL ERSYHLDKCQ IALNILEENL 1030 1040 1050 1060 1070 1080 FYDSGIGRDK FQHDVQTLLL TRQRKVYGDE TDTLFSPLME ALQNKDIEKV LSAGSRRFPQ 1090 1100 1110 1120 1130 1140 NAFICQALAR HFYIKEKDFN TALDWARQAK MKAPKNSYIS DTLGQVYKSE IKWWLDGNKN 1150 1160 1170 1180 1190 1200 CRSITVNDLT HLLEAAEKAS RAFKESQRQT DSKNYETENW SPQKSQRRYD MYNTACFLGE 1210 1220 1230 1240 1250 1260 IEVGLYTIQI LQLTPFFHKE NELSKKHMVQ FLSGKWTIPP DPRNECYLAL SKFTSHLKNL 1270 1280 1290 1300 1310 1320 QSDLKRCFDF FIDYMVLLKM RYTQKEIAEI MLSKKVSRCF RKYTELFCHL DPCLLQSKES 1330 1340 1350 1360 1370 1380 QLLQEENCRK KLEALRADRF AGLLEYLNPN YKDATTMESI VNEYAFLLQQ NSKKPMTNEK 1390 1400 1410 1420 1430 1440 QNSILANIIL SCLKPNSKLI QPLTTLKKQL REVLQFVGLS HQYPGPYFLA CLLFWPENQE 1450 1460 1470 1480 1490 1500 LDQDSKLIEK YVSSLNRSFR GQYKRMCRSK QASTLFYLGK RKGLNSIVHK AKIEQYFDKA 1510 1520 1530 1540 1550 1560 QNTNSLWHSG DVWKKNEVKD LLRRLTGQAE GKLISVEYGT EEKIKIPVIS VYSGPLRSGR 1570 1580 NIERVSFYLG FSIEGPLAYD IEVI
	Isoform 2 (UEF3) [UniParc]. Checksum: 49C995886F020FFD	FASTA	406	46,852
	10 20 30 40 50 60 MSKQVSLPEM IKDWTKEHVK KWVNEDLKIN EQYGQILLSE EVTGLVLQEL TEKDLVEMGL 70 80 90 100 110 120 PWGPALLIKR SYNKLNSKSP ESDNHDPGQL DNSKPSKTEH QKNPKHTKKE EENSMSSNID 130 140 150 160 170 180 YDPREIRDIK QEESILMKEN VLDEVANAKH KKKLEALRAD RFAGLLEYLN PNYKDATTME 190 200 210 220 230 240 SIVNEYAFLL QQNSKKPMTN EKQNSILANI ILSCLKPNSK LIQPLTTLKK QLREVLQFVG 250 260 270 280 290 300 LSHQYPGPYF LACLLFWPEN QELDQDSKLI EKYVSSLNRS FRGQYKRMCR SKQASTLFYL 310 320 330 340 350 360 GKRKGLNSIV HKAKIEQYFD KAQNTNSLWH SGDVWKKNEV KDLLRRLTGQ AEGKLISVEY 370 380 390 400 GTEEKIKIPV ISVYSGPLRS GRNIERVSFY LGFSIEGPLA YDIEVI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse." Li C.F., MacDonald J.R., Wei R.Y., Ray J., Lau K., Kandel C., Koffman R., Bell S., Scherer S.W., Alman B.A. BMC Genomics 8:92-92(2007) [PubMed: 17407603] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[2]	"The nucleotide sequence of a long cDNA clone isolated from human." Nagase T., Kikuno R., Ohara O. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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].
[5]	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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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 1). Tissue: Skin and Uterus.
[7]	"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 868-1584 (ISOFORM 1). Tissue: Spleen.
[8]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1090-1584 (ISOFORM 1). Tissue: Amygdala.
[9]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1293, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY195582 mRNA. Translation: AAP57709.1. AY195583 mRNA. Translation: AAP57710.1. AY195584 mRNA. Translation: AAP57711.1. AY195585 mRNA. Translation: AAP57712.1. AY195586 mRNA. Translation: AAP57713.1. AY195588 mRNA. Translation: AAP57714.1. AF474973 mRNA. Translation: AAQ05771.1. DQ068177 mRNA. Translation: AAY98793.1. AB095926 mRNA. Translation: BAC23102.1. Different initiation. CH236949 Genomic DNA. Translation: EAL24144.1. CH471091 Genomic DNA. Translation: EAW76824.1. CH471091 Genomic DNA. Translation: EAW76825.1. BC029108 mRNA. Translation: AAH29108.1. Different termination. BC038974 mRNA. Translation: AAH38974.1. Sequence problems. BC127117 mRNA. Translation: AAI27118.1. Frameshift. BC127118 mRNA. Translation: AAI27119.1. Frameshift. AK097204 mRNA. Translation: BAC04975.1. Different initiation. AL834232 mRNA. Translation: CAD38910.1. Different initiation.
IPI	IPI00719690. IPI00855755.
RefSeq	NP_689916.2. NM_152703.2.
UniGene	Hs.489118.
3D structure databases
HSSP	HSSP built from PDB template 1PK1 based on UniProtKB Q9VHA0.
ProteinModelPortal	Q8IVG5.
SMR	Q8IVG5. Positions 3-76.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IVG5. 2 interactions.
STRING	Q8IVG5.
PTM databases
PhosphoSite	Q8IVG5.
Polymorphism databases
DMDM	146325547.
Proteomic databases
PRIDE	Q8IVG5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318238; ENSP00000326247; ENSG00000177409. ENST00000411955; ENSP00000405760; ENSG00000177409. ENST00000437805; ENSP00000408796; ENSG00000177409.
GeneID	219285.
KEGG	hsa:219285.
UCSC	uc003umh.1. human.
Organism-specific databases
CTD	219285.
GeneCards	GC07M092759.
H-InvDB	HIX0006846.
HGNC	HGNC:1349. SAMD9L.
HPA	HPA019461. HPA019465. HPA019488.
MIM	611170. gene.
neXtProt	NX_Q8IVG5.
PharmGKB	PA25949.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09537.
GeneTree	ENSGT00390000013973.
HOVERGEN	HBG080713.
InParanoid	Q8IVG5.
OMA	IYQRWKD.
OrthoDB	EOG4RV2QM.
Gene expression databases
ArrayExpress	Q8IVG5.
Bgee	Q8IVG5.
Genevestigator	Q8IVG5.
Family and domain databases
InterPro	IPR001660. SAM. IPR013761. SAM/pointed. [Graphical view]
Gene3D	G3DSA:1.10.150.50. SAM_type. 1 hit.
SUPFAM	SSF47769. SAM_homology. 1 hit.
PROSITE	PS50105. SAM_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	90560.
SOURCE	Search...

Entry information

Entry name

SAM9L_HUMAN

Accession

Primary (citable) accession number: Q8IVG5
Secondary accession number(s): A0JP23 , A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IWI4, Q8N3L9, Q8N875

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 6, 2007
Last sequence update:	March 6, 2007
Last modified:	January 25, 2012
This is version 60 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.