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Protein

Sterile alpha motif domain-containing protein 9

Gene

SAMD9

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

Functioni

May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2.3 Publications

Enzyme and pathway databases

BioCyciZFISH:G66-32581-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Sterile alpha motif domain-containing protein 9
Short name:
SAM domain-containing protein 9
Gene namesi
Name:SAMD9
Synonyms:C7orf5, DRIF1, KIAA2004, OEF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:1348. SAMD9.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • intracellular membrane-bounded organelle Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Tumoral calcinosis, normophosphatemic, familial (NFTC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.
See also OMIM:610455
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0315291495K → E in NFTC; loss of cytoplasmic expression. 2 PublicationsCorresponds to variant rs121918554dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54809.
MalaCardsiSAMD9.
MIMi610455. phenotype.
OpenTargetsiENSG00000205413.
Orphaneti306658. Normocalcemic tumoral calcinosis.
PharmGKBiPA25948.

Polymorphism and mutation databases

BioMutaiSAMD9.
DMDMi71153739.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975731 – 1589Sterile alpha motif domain-containing protein 9Add BLAST1589

Proteomic databases

EPDiQ5K651.
MaxQBiQ5K651.
PaxDbiQ5K651.
PeptideAtlasiQ5K651.
PRIDEiQ5K651.

PTM databases

iPTMnetiQ5K651.
PhosphoSitePlusiQ5K651.

Expressioni

Tissue specificityi

Widely expressed. Very low levels are detected in skeletal muscle. Not detected in brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Up-regulated in fibroblasts from patients with normophosphatemic tumoral calcinosis (NFTC).2 Publications

Inductioni

Up-regulated by TNF-alpha through p38 MAPKs and NF-kappa-B. Up-regulated by osmotic shock. Induced by IFNG.2 Publications

Gene expression databases

BgeeiENSG00000205413.
CleanExiHS_SAMD9.
ExpressionAtlasiQ5K651. baseline and differential.
GenevisibleiQ5K651. HS.

Organism-specific databases

HPAiHPA021318.
HPA021319.

Interactioni

Subunit structurei

Interacts with RGL2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
EEA1Q150752EBI-2814750,EBI-298113

Protein-protein interaction databases

BioGridi120166. 12 interactors.
IntActiQ5K651. 8 interactors.
STRINGi9606.ENSP00000369292.

Structurei

3D structure databases

ProteinModelPortaliQ5K651.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 78SAMPROSITE-ProRule annotationAdd BLAST65

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiENOG410IETT. Eukaryota.
ENOG41124X3. LUCA.
GeneTreeiENSGT00390000013973.
HOVERGENiHBG080713.
InParanoidiQ5K651.
OMAiEDIMPRG.
OrthoDBiEOG091G00BC.
PhylomeDBiQ5K651.
TreeFamiTF331842.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF07647. SAM_2. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q5K651-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAKQLNLPEN TDDWTKEDVN QWLESHKIDQ KHREILTEQD VNGAVLKWLK
60 70 80 90 100
KEHLVDMGIT HGPAIQIEEL FKELRKTAIE DSIQTSKMGK PSKNAPKDQT
110 120 130 140 150
VSQKERRETS KQKQKGKENP DMANPSAMST TAKGSKSLKV ELIEDKIDYT
160 170 180 190 200
KERQPSIDLT CVSYPFDEFS NPYRYKLDFS LQPETGPGNL IDPIHEFKAF
210 220 230 240 250
TNTATATEED VKMKFSNEVF RFASACMNSR TNGTIHFGVK DKPHGKIVGI
260 270 280 290 300
KVTNDTKEAL INHFNLMINK YFEDHQVQQA KKCIREPRFV EVLLPNSTLS
310 320 330 340 350
DRFVIEVDII PQFSECQYDY FQIKMQNYNN KIWEQSKKFS LFVRDGTSSK
360 370 380 390 400
DITKNKVDFR AFKADFKTLA ESRKAAEEKF RAKTNKKERE GPKLVKLLTG
410 420 430 440 450
NQDLLDNSYY EQYILVTNKC HPDQTKHLDF LKEIKWFAVL EFDPESNING
460 470 480 490 500
VVKAYKESRV ANLHFPSVYV EQKTTPNETI STLNLYHQPS WIFCNGRLDL
510 520 530 540 550
DSEKYKPFDP SSWQRERASD VRKLISFLTH EDIMPRGKFL VVFLLLSSVD
560 570 580 590 600
DPRDPLIETF CAFYQDLKGM ENILCICVHP HIFQGWKDLL EARLIKHQDE
610 620 630 640 650
ISSQCISALS LEEINGTILK LKSVTQSSKR LLPSIGLSTV LLKKEEDIMT
660 670 680 690 700
ALEIICENEC EGTLLEKDKN KFLEFKASKE EDFYRGGKVS WWNFYFSSES
710 720 730 740 750
YSSPFVKRDK YERLEAMIQN CADSSKPTST KIIHLYHHPG CGGTTLAMHI
760 770 780 790 800
LWELRKKFRC AVLKNKTVDF SEIGEQVTSL ITYGAMNRQE YVPVLLLVDD
810 820 830 840 850
FEEQDNVYLL QYSIQTAIAK KYIRYEKPLV IILNCMRSQN PEKSARIPDS
860 870 880 890 900
IAVIQQLSPK EQRAFELKLK EIKEQHKNFE DFYSFMIMKT NFNKEYIENV
910 920 930 940 950
VRNILKGQNI FTKEAKLFSF LALLNSYVPD TTISLSQCEK FLGIGNKKAF
960 970 980 990 1000
WGTEKFEDKM GTYSTILIKT EVIECGNYCG VRIIHSLIAE FSLEELKKSY
1010 1020 1030 1040 1050
HLNKSQIMLD MLTENLFFDT GMGKSKFLQD MHTLLLTRHR DEHEGETGNW
1060 1070 1080 1090 1100
FSPFIEALHK DEGNEAVEAV LLESIHRFNP NAFICQALAR HFYIKKKDFG
1110 1120 1130 1140 1150
NALNWAKQAK IIEPDNSYIS DTLGQVYKSK IRWWIEENGG NGNISVDDLI
1160 1170 1180 1190 1200
ALLDLAEHAS SAFKESQQQS EDREYEVKER LYPKSKRRYD TYNIAGYQGE
1210 1220 1230 1240 1250
IEVGLYTIQI LQLIPFFDNK NELSKRYMVN FVSGSSDIPG DPNNEYKLAL
1260 1270 1280 1290 1300
KNYIPYLTKL KFSLKKSFDF FDEYFVLLKP RNNIKQNEEA KTRRKVAGYF
1310 1320 1330 1340 1350
KKYVDIFCLL EESQNNTGLG SKFSEPLQVE RCRRNLVALK ADKFSGLLEY
1360 1370 1380 1390 1400
LIKSQEDAIS TMKCIVNEYT FLLEQCTVKI QSKEKLNFIL ANIILSCIQP
1410 1420 1430 1440 1450
TSRLVKPVEK LKDQLREVLQ PIGLTYQFSE PYFLASLLFW PENQQLDQHS
1460 1470 1480 1490 1500
EQMKEYAQAL KNSFKGQYKH MHRTKQPIAY FFLGKGKRLE RLVHKGKIDQ
1510 1520 1530 1540 1550
CFKKTPDINS LWQSGDVWKE EKVQELLLRL QGRAENNCLY IEYGINEKIT
1560 1570 1580
IPITPAFLGQ LRSGRSIEKV SFYLGFSIGG PLAYDIEIV
Length:1,589
Mass (Da):184,281
Last modified:February 15, 2005 - v1
Checksum:iCF3EF341ED092167
GO

Sequence cautioni

The sequence AAH65769 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAQ04689 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated
The sequence BAA90932 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC23101 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1577S → P in BAA90932 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031526143I → T.Corresponds to variant rs6969691dbSNPEnsembl.1
Natural variantiVAR_031527449N → S.Corresponds to variant rs10239435dbSNPEnsembl.1
Natural variantiVAR_031528549V → L.Corresponds to variant rs10279499dbSNPEnsembl.1
Natural variantiVAR_0315291495K → E in NFTC; loss of cytoplasmic expression. 2 PublicationsCorresponds to variant rs121918554dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34680.1.
RefSeqiNP_001180236.1. NM_001193307.1.
NP_060124.2. NM_017654.3.
UniGeneiHs.65641.

Genome annotation databases

EnsembliENST00000379958; ENSP00000369292; ENSG00000205413.
ENST00000620985; ENSP00000484636; ENSG00000205413.
GeneIDi54809.
KEGGihsa:54809.
UCSCiuc003umf.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34680.1.
RefSeqiNP_001180236.1. NM_001193307.1.
NP_060124.2. NM_017654.3.
UniGeneiHs.65641.

3D structure databases

ProteinModelPortaliQ5K651.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120166. 12 interactors.
IntActiQ5K651. 8 interactors.
STRINGi9606.ENSP00000369292.

PTM databases

iPTMnetiQ5K651.
PhosphoSitePlusiQ5K651.

Polymorphism and mutation databases

BioMutaiSAMD9.
DMDMi71153739.

Proteomic databases

EPDiQ5K651.
MaxQBiQ5K651.
PaxDbiQ5K651.
PeptideAtlasiQ5K651.
PRIDEiQ5K651.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379958; ENSP00000369292; ENSG00000205413.
ENST00000620985; ENSP00000484636; ENSG00000205413.
GeneIDi54809.
KEGGihsa:54809.
UCSCiuc003umf.4. human.

Organism-specific databases

CTDi54809.
DisGeNETi54809.
GeneCardsiSAMD9.
HGNCiHGNC:1348. SAMD9.
HPAiHPA021318.
HPA021319.
MalaCardsiSAMD9.
MIMi610455. phenotype.
610456. gene.
neXtProtiNX_Q5K651.
OpenTargetsiENSG00000205413.
Orphaneti306658. Normocalcemic tumoral calcinosis.
PharmGKBiPA25948.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IETT. Eukaryota.
ENOG41124X3. LUCA.
GeneTreeiENSGT00390000013973.
HOVERGENiHBG080713.
InParanoidiQ5K651.
OMAiEDIMPRG.
OrthoDBiEOG091G00BC.
PhylomeDBiQ5K651.
TreeFamiTF331842.

Enzyme and pathway databases

BioCyciZFISH:G66-32581-MONOMER.

Miscellaneous databases

ChiTaRSiSAMD9. human.
GeneWikiiSAMD9.
GenomeRNAii54809.
PROiQ5K651.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205413.
CleanExiHS_SAMD9.
ExpressionAtlasiQ5K651. baseline and differential.
GenevisibleiQ5K651. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF07647. SAM_2. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSAMD9_HUMAN
AccessioniPrimary (citable) accession number: Q5K651
Secondary accession number(s): A2RU68
, Q5K649, Q6P080, Q75N21, Q8IVG6, Q9NXS8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: February 15, 2005
Last modified: November 30, 2016
This is version 114 of the entry and version 1 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 7
    Human chromosome 7: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.