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Entry version 138 (12 Aug 2020)
Sequence version 1 (15 Feb 2005)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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. May be involved in endosome fusion.4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5K651

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sterile alpha motif domain-containing protein 9
Short name:
SAM domain-containing protein 9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SAMD9
Synonyms:C7orf5, DRIF1, KIAA2004, OEF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000205413.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1348, SAMD9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610456, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5K651

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0315291495K → E in NFTC; loss of cytoplasmic expression. 2 PublicationsCorresponds to variant dbSNP:rs121918554EnsemblClinVar.1
MIRAGE syndrome (MIRAGE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077885459R → Q in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_077886769D → N in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_077887834N → Y in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_077888974E → K in MIRAGE; decreased cell proliferation; changed endosome organization. 1 PublicationCorresponds to variant dbSNP:rs1554336981EnsemblClinVar.1
Natural variantiVAR_0778891195A → V in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0778901280P → L in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0778911286Q → K in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0778131293R → W in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
54809

MalaCards human disease database

More...
MalaCardsi
SAMD9
MIMi610455, phenotype
617053, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000205413

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
306658, Familial normophosphatemic tumoral calcinosis
494433, MIRAGE syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25948

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5K651, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SAMD9

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71153739

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000975731 – 1589Sterile alpha motif domain-containing protein 9Add BLAST1589

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5K651

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5K651

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5K651

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5K651

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5K651

PeptideAtlas

More...
PeptideAtlasi
Q5K651

PRoteomics IDEntifications database

More...
PRIDEi
Q5K651

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
63547

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5K651

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q5K651

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5K651

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000205413, Expressed in esophagus squamous epithelium and 218 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5K651, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5K651, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000205413, Tissue enhanced (esophagus, lymphoid tissue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RGL2 (PubMed:21160498).

Interacts with EEA1 (PubMed:24029230).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
120166, 14 interactors

Protein interaction database and analysis system

More...
IntActi
Q5K651, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369292

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5K651, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini14 – 78SAMPROSITE-ProRule annotationAdd BLAST65

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QPY6, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013973

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5K651

KEGG Orthology (KO)

More...
KOi
K23949

Identification of Orthologs from Complete Genome Data

More...
OMAi
EQDNVYL

Database of Orthologous Groups

More...
OrthoDBi
29718at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5K651

TreeFam database of animal gene trees

More...
TreeFami
TF331842

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.150.50, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027417, P-loop_NTPase
IPR001660, SAM
IPR013761, SAM/pointed_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07647, SAM_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00454, SAM, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769, SSF47769, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50105, SAM_DOMAIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCF3EF341ED092167
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKF1C9JKF1_HUMAN
Sterile alpha motif domain-containi...
SAMD9
1,283Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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. Truncated N-terminus.Curated
The sequence BAC23101 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1577S → P in BAA90932 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031526143I → T. Corresponds to variant dbSNP:rs6969691Ensembl.1
Natural variantiVAR_031527449N → S. Corresponds to variant dbSNP:rs10239435Ensembl.1
Natural variantiVAR_077885459R → Q in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_031528549V → L. Corresponds to variant dbSNP:rs10279499Ensembl.1
Natural variantiVAR_077886769D → N in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_077887834N → Y in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_077888974E → K in MIRAGE; decreased cell proliferation; changed endosome organization. 1 PublicationCorresponds to variant dbSNP:rs1554336981EnsemblClinVar.1
Natural variantiVAR_0778891195A → V in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0778901280P → L in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0778911286Q → K in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0778131293R → W in MIRAGE; decreased cell proliferation; changed endosome organization. 1 Publication1
Natural variantiVAR_0315291495K → E in NFTC; loss of cytoplasmic expression. 2 PublicationsCorresponds to variant dbSNP:rs121918554EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS34680.1

NCBI Reference Sequences

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RefSeqi
NP_001180236.1, NM_001193307.1
NP_060124.2, NM_017654.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000379958; ENSP00000369292; ENSG00000205413
ENST00000620985; ENSP00000484636; ENSG00000205413

Database of genes from NCBI RefSeq genomes

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GeneIDi
54809

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54809

UCSC genome browser

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UCSCi
uc003umf.4, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120166, 14 interactors
IntActiQ5K651, 9 interactors
STRINGi9606.ENSP00000369292

PTM databases

iPTMnetiQ5K651
MetOSiteiQ5K651
PhosphoSitePlusiQ5K651

Polymorphism and mutation databases

BioMutaiSAMD9
DMDMi71153739

Proteomic databases

EPDiQ5K651
jPOSTiQ5K651
MassIVEiQ5K651
MaxQBiQ5K651
PaxDbiQ5K651
PeptideAtlasiQ5K651
PRIDEiQ5K651
ProteomicsDBi63547

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
15642, 118 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54809
DisGeNETi54809
EuPathDBiHostDB:ENSG00000205413.7

GeneCards: human genes, protein and diseases

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GeneCardsi
SAMD9
HGNCiHGNC:1348, SAMD9
HPAiENSG00000205413, Tissue enhanced (esophagus, lymphoid tissue)
MalaCardsiSAMD9
MIMi610455, phenotype
610456, gene
617053, phenotype
neXtProtiNX_Q5K651
OpenTargetsiENSG00000205413
Orphaneti306658, Familial normophosphatemic tumoral calcinosis
494433, MIRAGE syndrome
PharmGKBiPA25948

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QPY6, Eukaryota
GeneTreeiENSGT00390000013973
InParanoidiQ5K651
KOiK23949
OMAiEQDNVYL
OrthoDBi29718at2759
PhylomeDBiQ5K651
TreeFamiTF331842

Enzyme and pathway databases

PathwayCommonsiQ5K651

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
54809, 1 hit in 869 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SAMD9, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SAMD9

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
54809
PharosiQ5K651, Tbio

Protein Ontology

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PROi
PR:Q5K651
RNActiQ5K651, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000205413, Expressed in esophagus squamous epithelium and 218 other tissues
ExpressionAtlasiQ5K651, baseline and differential
GenevisibleiQ5K651, HS

Family and domain databases

Gene3Di1.10.150.50, 1 hit
InterProiView protein in InterPro
IPR027417, P-loop_NTPase
IPR001660, SAM
IPR013761, SAM/pointed_sf
PfamiView protein in Pfam
PF07647, SAM_2, 1 hit
SMARTiView protein in SMART
SM00454, SAM, 1 hit
SUPFAMiSSF47769, SSF47769, 1 hit
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50105, SAM_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSAMD9_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5K651
Secondary accession number(s): A2RU68
, Q5K649, Q6P080, Q75N21, Q8IVG6, Q9NXS8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: February 15, 2005
Last modified: August 12, 2020
This is version 138 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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