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Protein

Sterile alpha motif domain-containing protein 9-like

Gene

SAMD9L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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 be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.By similarity

<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

  • endosomal vesicle fusion Source: GO_Central

<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_and_taxonomy_section">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-like
Short name:
SAM domain-containing protein 9-like
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SAMD9L
Synonyms:C7orf6, DRIF2, KIAA2005, UEF
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

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EuPathDBi
HostDB:ENSG00000177409.11

Human Gene Nomenclature Database

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HGNCi
HGNC:1349 SAMD9L

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611170 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8IVG5

<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; 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

Endosome

<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

Ataxia-pancytopenia syndrome (ATXPC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.
See also OMIM:159550
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_077034880H → Q in ATXPC. 1 PublicationCorresponds to variant dbSNP:rs878855336EnsemblClinVar.1
Natural variantiVAR_0770351196C → S in ATXPC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878855337EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
219285

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SAMD9L

MalaCards human disease database

More...
MalaCardsi
SAMD9L
MIMi159550 phenotype

Open Targets

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OpenTargetsi
ENSG00000177409

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

More...
Orphaneti
2585 Ataxia-pancytopenia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25949

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SAMD9L

Domain mapping of disease mutations (DMDM)

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DMDMi
146325547

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002794981 – 1584Sterile alpha motif domain-containing protein 9-likeAdd BLAST1584

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IVG5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IVG5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8IVG5

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

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PaxDbi
Q8IVG5

PeptideAtlas

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PeptideAtlasi
Q8IVG5

PRoteomics IDEntifications database

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PRIDEi
Q8IVG5

ProteomicsDB human proteome resource

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ProteomicsDBi
70702
70703 [Q8IVG5-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IVG5

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

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PhosphoSitePlusi
Q8IVG5

<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 in adult and fetal tissues. Variable expression in tumors. Down-regulated in breast cancer.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000177409 Expressed in 179 organ(s), highest expression level in bone marrow

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IVG5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IVG5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019461
HPA019465
HPA019488

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with EEA1.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
128519, 1 interactor

Protein interaction database and analysis system

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IntActi
Q8IVG5, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000326247

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8IVG5

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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_and_domains_section">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 – 79SAMPROSITE-ProRule annotationAdd BLAST66

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IETT Eukaryota
ENOG41124X3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013973

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080713

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IVG5

Identification of Orthologs from Complete Genome Data

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OMAi
KFQHDVQ

Database of Orthologous Groups

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OrthoDBi
29718at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IVG5

TreeFam database of animal gene trees

More...
TreeFami
TF331842

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47769 SSF47769, 1 hit

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IVG5-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MSKQVSLPEM IKDWTKEHVK KWVNEDLKIN EQYGQILLSE EVTGLVLQEL
60 70 80 90 100
TEKDLVEMGL PWGPALLIKR SYNKLNSKSP ESDNHDPGQL DNSKPSKTEH
110 120 130 140 150
QKNPKHTKKE EENSMSSNID YDPREIRDIK QEESILMKEN VLDEVANAKH
160 170 180 190 200
KKKGKLKPEQ LTCMPYPFDQ FHDSHRYIEH YTLQPETGAL NLIDPIHEFK
210 220 230 240 250
ALTNTETATE VDIKMKFSNE VFRFASACMN SRTNGTIHFG VKDKPHGEIV
260 270 280 290 300
GVKITSKAAF IDHFNVMIKK YFEESEINEA KKCIREPRFV EVLLQNNTPS
310 320 330 340 350
DRFVIEVDTI PKHSICNDKY FYIQMQICKD KIWKQNQNLS LFVREGASSR
360 370 380 390 400
DILANSKQRD VDFKAFLQNL KSLVASRKEA EEEYGMKAMK KESEGLKLVK
410 420 430 440 450
LLIGNRDSLD NSYYDWYILV TNKCHPNQIK HLDFLKEIKW FAVLEFDPES
460 470 480 490 500
MINGVVKAYK ESRVANLHFP NQYEDKTTNM WEKISTLNLY QQPSWIFCNG
510 520 530 540 550
RSDLKSETYK PLEPHLWQRE RASEVRKLIL FLTDENIMTR GKFLVVFLLL
560 570 580 590 600
SSVESPGDPL IETFWAFYQA LKGMENMLCI SVNSHIYQRW KDLLQTRMKM
610 620 630 640 650
EDELTNHSIS TLNIELVNST ILKLKSVTRS SRRFLPARGS SSVILEKKKE
660 670 680 690 700
DVLTALEILC ENECTETDIE KDKSKFLEFK KSKEEHFYRG GKVSWWNFYF
710 720 730 740 750
SSENYSSDFV KRDSYEKLKD LIHCWAESPK PIFAKIINLY HHPGCGGTTL
760 770 780 790 800
AMHVLWDLKK NFRCAVLKNK TTDFAEIAEQ VINLVTYRAK SHQDYIPVLL
810 820 830 840 850
LVDDFEEQEN VYFLQNAIHS VLAEKDLRYE KTLVIILNCM RSRNPDESAK
860 870 880 890 900
LADSIALNYQ LSSKEQRAFG AKLKEIEKQH KNCENFYSFM IMKSNFDETY
910 920 930 940 950
IENVVRNILK GQDVDSKEAQ LISFLALLSS YVTDSTISVS QCEIFLGIIY
960 970 980 990 1000
TSTPWEPESL EDKMGTYSTL LIKTEVAEYG RYTGVRIIHP LIALYCLKEL
1010 1020 1030 1040 1050
ERSYHLDKCQ IALNILEENL FYDSGIGRDK FQHDVQTLLL TRQRKVYGDE
1060 1070 1080 1090 1100
TDTLFSPLME ALQNKDIEKV LSAGSRRFPQ NAFICQALAR HFYIKEKDFN
1110 1120 1130 1140 1150
TALDWARQAK MKAPKNSYIS DTLGQVYKSE IKWWLDGNKN CRSITVNDLT
1160 1170 1180 1190 1200
HLLEAAEKAS RAFKESQRQT DSKNYETENW SPQKSQRRYD MYNTACFLGE
1210 1220 1230 1240 1250
IEVGLYTIQI LQLTPFFHKE NELSKKHMVQ FLSGKWTIPP DPRNECYLAL
1260 1270 1280 1290 1300
SKFTSHLKNL QSDLKRCFDF FIDYMVLLKM RYTQKEIAEI MLSKKVSRCF
1310 1320 1330 1340 1350
RKYTELFCHL DPCLLQSKES QLLQEENCRK KLEALRADRF AGLLEYLNPN
1360 1370 1380 1390 1400
YKDATTMESI VNEYAFLLQQ NSKKPMTNEK QNSILANIIL SCLKPNSKLI
1410 1420 1430 1440 1450
QPLTTLKKQL REVLQFVGLS HQYPGPYFLA CLLFWPENQE LDQDSKLIEK
1460 1470 1480 1490 1500
YVSSLNRSFR GQYKRMCRSK QASTLFYLGK RKGLNSIVHK AKIEQYFDKA
1510 1520 1530 1540 1550
QNTNSLWHSG DVWKKNEVKD LLRRLTGQAE GKLISVEYGT EEKIKIPVIS
1560 1570 1580
VYSGPLRSGR NIERVSFYLG FSIEGPLAYD IEVI
Length:1,584
Mass (Da):184,533
Last modified:March 6, 2007 - v2
<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:iA9C52976D47AE79B
GO
Isoform 2 (identifier: Q8IVG5-2) [UniParc]FASTAAdd to basket
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.
Show »
Length:406
Mass (Da):46,852
Checksum:i49C995886F020FFD
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
A0A0B4J1Y6A0A0B4J1Y6_HUMAN
Sterile alpha motif domain-containi...
SAMD9L
69Annotation score:

Annotation score:1 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 AAI27118 differs from that shown. Reason: Frameshift at position 1259.Curated
The sequence AAI27119 differs from that shown. Reason: Frameshift at position 1516.Curated
The sequence BAC04975 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC23102 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAD38910 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030911266V → I. Corresponds to variant dbSNP:rs10488532Ensembl.1
Natural variantiVAR_030912289F → S. Corresponds to variant dbSNP:rs2073793Ensembl.1
Natural variantiVAR_077034880H → Q in ATXPC. 1 PublicationCorresponds to variant dbSNP:rs878855336EnsemblClinVar.1
Natural variantiVAR_0309131137G → A. Corresponds to variant dbSNP:rs17165111Ensembl.1
Natural variantiVAR_0770351196C → S in ATXPC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs878855337EnsemblClinVar.1
Natural variantiVAR_0309141516N → T. Corresponds to variant dbSNP:rs10282508Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_027875154 – 1331Missing in isoform 2. 1 PublicationAdd BLAST1178

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
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS34681.1 [Q8IVG5-1]

NCBI Reference Sequences

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RefSeqi
NP_001290425.1, NM_001303496.1 [Q8IVG5-1]
NP_001290426.1, NM_001303497.1 [Q8IVG5-1]
NP_001290427.1, NM_001303498.1 [Q8IVG5-1]
NP_001290429.1, NM_001303500.1 [Q8IVG5-1]
NP_689916.2, NM_152703.3 [Q8IVG5-1]
XP_005250250.1, XM_005250193.3
XP_006715953.1, XM_006715890.1
XP_011514205.1, XM_011515903.2
XP_016867311.1, XM_017011822.1
XP_016867312.1, XM_017011823.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.489118

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000318238; ENSP00000326247; ENSG00000177409 [Q8IVG5-1]
ENST00000411955; ENSP00000405760; ENSG00000177409 [Q8IVG5-1]
ENST00000437805; ENSP00000408796; ENSG00000177409 [Q8IVG5-1]
ENST00000610760; ENSP00000484397; ENSG00000177409 [Q8IVG5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
219285

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:219285

UCSC genome browser

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UCSCi
uc003umh.2 human [Q8IVG5-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
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.
CCDSiCCDS34681.1 [Q8IVG5-1]
RefSeqiNP_001290425.1, NM_001303496.1 [Q8IVG5-1]
NP_001290426.1, NM_001303497.1 [Q8IVG5-1]
NP_001290427.1, NM_001303498.1 [Q8IVG5-1]
NP_001290429.1, NM_001303500.1 [Q8IVG5-1]
NP_689916.2, NM_152703.3 [Q8IVG5-1]
XP_005250250.1, XM_005250193.3
XP_006715953.1, XM_006715890.1
XP_011514205.1, XM_011515903.2
XP_016867311.1, XM_017011822.1
XP_016867312.1, XM_017011823.1
UniGeneiHs.489118

3D structure databases

ProteinModelPortaliQ8IVG5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128519, 1 interactor
IntActiQ8IVG5, 4 interactors
STRINGi9606.ENSP00000326247

PTM databases

iPTMnetiQ8IVG5
PhosphoSitePlusiQ8IVG5

Polymorphism and mutation databases

BioMutaiSAMD9L
DMDMi146325547

Proteomic databases

EPDiQ8IVG5
jPOSTiQ8IVG5
MaxQBiQ8IVG5
PaxDbiQ8IVG5
PeptideAtlasiQ8IVG5
PRIDEiQ8IVG5
ProteomicsDBi70702
70703 [Q8IVG5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318238; ENSP00000326247; ENSG00000177409 [Q8IVG5-1]
ENST00000411955; ENSP00000405760; ENSG00000177409 [Q8IVG5-1]
ENST00000437805; ENSP00000408796; ENSG00000177409 [Q8IVG5-1]
ENST00000610760; ENSP00000484397; ENSG00000177409 [Q8IVG5-2]
GeneIDi219285
KEGGihsa:219285
UCSCiuc003umh.2 human [Q8IVG5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
219285
DisGeNETi219285
EuPathDBiHostDB:ENSG00000177409.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SAMD9L
GeneReviewsiSAMD9L

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0168018
HGNCiHGNC:1349 SAMD9L
HPAiHPA019461
HPA019465
HPA019488
MalaCardsiSAMD9L
MIMi159550 phenotype
611170 gene
neXtProtiNX_Q8IVG5
OpenTargetsiENSG00000177409
Orphaneti2585 Ataxia-pancytopenia syndrome
PharmGKBiPA25949

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IETT Eukaryota
ENOG41124X3 LUCA
GeneTreeiENSGT00390000013973
HOVERGENiHBG080713
InParanoidiQ8IVG5
OMAiKFQHDVQ
OrthoDBi29718at2759
PhylomeDBiQ8IVG5
TreeFamiTF331842

Miscellaneous databases

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

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ChiTaRSi
SAMD9L human

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

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GenomeRNAii
219285

Protein Ontology

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PROi
PR:Q8IVG5

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000177409 Expressed in 179 organ(s), highest expression level in bone marrow
ExpressionAtlasiQ8IVG5 baseline and differential
GenevisibleiQ8IVG5 HS

Family and domain databases

InterProiView protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiSAM9L_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: Q8IVG5
Secondary accession number(s): A0JP23
, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IWI4, Q8N3L9, Q8N875
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: January 16, 2019
This is version 119 of the entry and version 2 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

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
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