Q5K651 (SAMD9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Gene names

Name:	SAMD9
Synonyms:	C7orf5, DRIF1, KIAA2004, OEF1

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	1589 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Cytoplasm Probable Ref.1.
Tissue specificity	Widely expressed. Very low levels in skeletal muscle. Not detected in fetal brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Ref.1
Involvement in disease	Defects in SAMD9 are the cause of normophosphatemic familial tumoral calcinosis (NFTC) [MIM:610455]. NFTC is an uncommon life-threatening disorder characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. Ref.9
Sequence similarities	Contains 1 SAM (sterile alpha motif) domain.
Sequence caution	The sequence AAH65769.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAQ04689.3 differs from that shown. Reason: Unlikely isoform. Aberrant splice sites. The sequence BAA90932.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC23101.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from direct assay. Source: HPA intracellular membrane-bounded organelle Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1589	1589	Sterile alpha motif domain-containing protein 9		PRO_0000097573
Regions
	Domain	14 – 78	65	SAM
Natural variations
	Natural variant	143	1	I → T. Corresponds to variant rs6969691 [ dbSNP | Ensembl ].		VAR_031526
	Natural variant	449	1	N → S. Corresponds to variant rs10239435 [ dbSNP | Ensembl ].		VAR_031527
	Natural variant	549	1	V → L. Corresponds to variant rs10279499 [ dbSNP | Ensembl ].		VAR_031528
	Natural variant	1495	1	K → E in NFTC; loss of punctate cytoplasmic expression. Ref.9		VAR_031529
Experimental info
	Sequence conflict	1577	1	S → P in BAA90932. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Q5K651 [UniParc]. Last modified February 15, 2005. Version 1. Checksum: CF3EF341ED092167	FASTA	1,589	184,281
	10 20 30 40 50 60 MAKQLNLPEN TDDWTKEDVN QWLESHKIDQ KHREILTEQD VNGAVLKWLK KEHLVDMGIT 70 80 90 100 110 120 HGPAIQIEEL FKELRKTAIE DSIQTSKMGK PSKNAPKDQT VSQKERRETS KQKQKGKENP 130 140 150 160 170 180 DMANPSAMST TAKGSKSLKV ELIEDKIDYT KERQPSIDLT CVSYPFDEFS NPYRYKLDFS 190 200 210 220 230 240 LQPETGPGNL IDPIHEFKAF TNTATATEED VKMKFSNEVF RFASACMNSR TNGTIHFGVK 250 260 270 280 290 300 DKPHGKIVGI KVTNDTKEAL INHFNLMINK YFEDHQVQQA KKCIREPRFV EVLLPNSTLS 310 320 330 340 350 360 DRFVIEVDII PQFSECQYDY FQIKMQNYNN KIWEQSKKFS LFVRDGTSSK DITKNKVDFR 370 380 390 400 410 420 AFKADFKTLA ESRKAAEEKF RAKTNKKERE GPKLVKLLTG NQDLLDNSYY EQYILVTNKC 430 440 450 460 470 480 HPDQTKHLDF LKEIKWFAVL EFDPESNING VVKAYKESRV ANLHFPSVYV EQKTTPNETI 490 500 510 520 530 540 STLNLYHQPS WIFCNGRLDL DSEKYKPFDP SSWQRERASD VRKLISFLTH EDIMPRGKFL 550 560 570 580 590 600 VVFLLLSSVD DPRDPLIETF CAFYQDLKGM ENILCICVHP HIFQGWKDLL EARLIKHQDE 610 620 630 640 650 660 ISSQCISALS LEEINGTILK LKSVTQSSKR LLPSIGLSTV LLKKEEDIMT ALEIICENEC 670 680 690 700 710 720 EGTLLEKDKN KFLEFKASKE EDFYRGGKVS WWNFYFSSES YSSPFVKRDK YERLEAMIQN 730 740 750 760 770 780 CADSSKPTST KIIHLYHHPG CGGTTLAMHI LWELRKKFRC AVLKNKTVDF SEIGEQVTSL 790 800 810 820 830 840 ITYGAMNRQE YVPVLLLVDD FEEQDNVYLL QYSIQTAIAK KYIRYEKPLV IILNCMRSQN 850 860 870 880 890 900 PEKSARIPDS IAVIQQLSPK EQRAFELKLK EIKEQHKNFE DFYSFMIMKT NFNKEYIENV 910 920 930 940 950 960 VRNILKGQNI FTKEAKLFSF LALLNSYVPD TTISLSQCEK FLGIGNKKAF WGTEKFEDKM 970 980 990 1000 1010 1020 GTYSTILIKT EVIECGNYCG VRIIHSLIAE FSLEELKKSY HLNKSQIMLD MLTENLFFDT 1030 1040 1050 1060 1070 1080 GMGKSKFLQD MHTLLLTRHR DEHEGETGNW FSPFIEALHK DEGNEAVEAV LLESIHRFNP 1090 1100 1110 1120 1130 1140 NAFICQALAR HFYIKKKDFG NALNWAKQAK IIEPDNSYIS DTLGQVYKSK IRWWIEENGG 1150 1160 1170 1180 1190 1200 NGNISVDDLI ALLDLAEHAS SAFKESQQQS EDREYEVKER LYPKSKRRYD TYNIAGYQGE 1210 1220 1230 1240 1250 1260 IEVGLYTIQI LQLIPFFDNK NELSKRYMVN FVSGSSDIPG DPNNEYKLAL KNYIPYLTKL 1270 1280 1290 1300 1310 1320 KFSLKKSFDF FDEYFVLLKP RNNIKQNEEA KTRRKVAGYF KKYVDIFCLL EESQNNTGLG 1330 1340 1350 1360 1370 1380 SKFSEPLQVE RCRRNLVALK ADKFSGLLEY LIKSQEDAIS TMKCIVNEYT FLLEQCTVKI 1390 1400 1410 1420 1430 1440 QSKEKLNFIL ANIILSCIQP TSRLVKPVEK LKDQLREVLQ PIGLTYQFSE PYFLASLLFW 1450 1460 1470 1480 1490 1500 PENQQLDQHS EQMKEYAQAL KNSFKGQYKH MHRTKQPIAY FFLGKGKRLE RLVHKGKIDQ 1510 1520 1530 1540 1550 1560 CFKKTPDINS LWQSGDVWKE EKVQELLLRL QGRAENNCLY IEYGINEKIT IPITPAFLGQ 1570 1580 LRSGRSIEKV SFYLGFSIGG PLAYDIEIV

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], SUBCELLULAR LOCATION, 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]. Tissue: Aortic endothelium.
[3]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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].
[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]. Tissue: Cerebellum and Testis.
[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 955-1589. Tissue: Colon.
[8]	"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].
[9]	"A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis." Topaz O., Indelman M., Chefetz I., Geiger D., Metzker A., Altschuler Y., Choder M., Bercovich D., Uitto J., Bergman R., Richard G., Sprecher E. Am. J. Hum. Genet. 79:759-764(2006) [PubMed: 16960814] [Abstract] Cited for: VARIANT NFTC GLU-1495, CHARACTERIZATION OF VARIANT NFTC GLU-1495.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF445355 mRNA. Translation: AAQ04637.1. AF453311 mRNA. Translation: AAQ04689.3. Sequence problems. AB095925 mRNA. Translation: BAC23101.1. Different initiation. AC000119 Genomic DNA. Translation: AAQ96842.1. CH236949 Genomic DNA. Translation: EAL24145.1. CH471091 Genomic DNA. Translation: EAW76826.1. BC065769 mRNA. Translation: AAH65769.1. Sequence problems. BC132773 mRNA. Translation: AAI32774.1. BC132775 mRNA. Translation: AAI32776.1. BC150249 mRNA. Translation: AAI50250.1. AK000080 mRNA. Translation: BAA90932.1. Different initiation.
IPI	IPI00217018.
RefSeq	NP_001180236.1. NM_001193307.1. NP_060124.2. NM_017654.3.
UniGene	Hs.65641.
3D structure databases
ProteinModelPortal	Q5K651.
SMR	Q5K651. Positions 11-74.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5K651. 1 interaction.
STRING	Q5K651.
PTM databases
PhosphoSite	Q5K651.
Polymorphism databases
DMDM	71153739.
Proteomic databases
PeptideAtlas	Q5K651.
PRIDE	Q5K651.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000379958; ENSP00000369292; ENSG00000205413.
GeneID	54809.
KEGG	hsa:54809.
UCSC	uc003umf.1. human.
Organism-specific databases
CTD	54809.
GeneCards	GC07M092728.
H-InvDB	HIX0006845.
HGNC	HGNC:1348. SAMD9.
HPA	HPA021318. HPA021319.
MIM	610455. phenotype. 610456. gene.
neXtProt	NX_Q5K651.
Orphanet	53715. Tumoral calcinosis.
PharmGKB	PA25948.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12409.
GeneTree	ENSGT00390000013973.
HOVERGEN	HBG080713.
InParanoid	Q5K651.
OMA	YKSKIRW.
OrthoDB	EOG4RV2QM.
Gene expression databases
ArrayExpress	Q5K651.
Bgee	Q5K651.
CleanEx	HS_SAMD9.
Genevestigator	Q5K651.
GermOnline	ENSG00000205413. Homo sapiens.
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	57525.
SOURCE	Search...

Entry information

Entry name

SAMD9_HUMAN

Accession

Primary (citable) accession number: Q5K651
Secondary accession number(s): A2RU68 , Q5K649, Q6P080, Q75N21, Q8IVG6, Q9NXS8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	February 15, 2005
Last modified:	January 25, 2012
This is version 71 of the entry and version 1 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.