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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: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Sterile alpha motif domain-containing protein 9-like
Short name:
SAM domain-containing protein 9-like
Gene namesi
Name:SAMD9L
Synonyms:C7orf6, DRIF2, KIAA2005, UEF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:1349. SAMD9L.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi219285.
OpenTargetsiENSG00000177409.
PharmGKBiPA25949.

Polymorphism and mutation databases

BioMutaiSAMD9L.
DMDMi146325547.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002794981 – 1584Sterile alpha motif domain-containing protein 9-likeAdd BLAST1584

Proteomic databases

MaxQBiQ8IVG5.
PaxDbiQ8IVG5.
PeptideAtlasiQ8IVG5.
PRIDEiQ8IVG5.

PTM databases

iPTMnetiQ8IVG5.
PhosphoSitePlusiQ8IVG5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000177409.
ExpressionAtlasiQ8IVG5. baseline and differential.
GenevisibleiQ8IVG5. HS.

Organism-specific databases

HPAiHPA019461.
HPA019465.
HPA019488.

Interactioni

Protein-protein interaction databases

BioGridi128519. 1 interactor.
IntActiQ8IVG5. 3 interactors.
STRINGi9606.ENSP00000326247.

Structurei

3D structure databases

ProteinModelPortaliQ8IVG5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini14 – 79SAMPROSITE-ProRule annotationAdd BLAST66

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiENOG410IETT. Eukaryota.
ENOG41124X3. LUCA.
GeneTreeiENSGT00390000013973.
HOVERGENiHBG080713.
InParanoidiQ8IVG5.
OMAiLTCMPYP.
OrthoDBiEOG091G00BC.
PhylomeDBiQ8IVG5.
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]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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 rs10488532dbSNPEnsembl.1
Natural variantiVAR_030912289F → S.Corresponds to variant rs2073793dbSNPEnsembl.1
Natural variantiVAR_0309131137G → A.Corresponds to variant rs17165111dbSNPEnsembl.1
Natural variantiVAR_0309141516N → T.Corresponds to variant rs10282508dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027875154 – 1331Missing in isoform 2. 1 PublicationAdd BLAST1178

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. [Q8IVG5-1]
XP_006715953.1. XM_006715890.1. [Q8IVG5-1]
XP_011514205.1. XM_011515903.2. [Q8IVG5-1]
XP_016867311.1. XM_017011822.1. [Q8IVG5-1]
XP_016867312.1. XM_017011823.1. [Q8IVG5-1]
UniGeneiHs.489118.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. [Q8IVG5-1]
XP_006715953.1. XM_006715890.1. [Q8IVG5-1]
XP_011514205.1. XM_011515903.2. [Q8IVG5-1]
XP_016867311.1. XM_017011822.1. [Q8IVG5-1]
XP_016867312.1. XM_017011823.1. [Q8IVG5-1]
UniGeneiHs.489118.

3D structure databases

ProteinModelPortaliQ8IVG5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128519. 1 interactor.
IntActiQ8IVG5. 3 interactors.
STRINGi9606.ENSP00000326247.

PTM databases

iPTMnetiQ8IVG5.
PhosphoSitePlusiQ8IVG5.

Polymorphism and mutation databases

BioMutaiSAMD9L.
DMDMi146325547.

Proteomic databases

MaxQBiQ8IVG5.
PaxDbiQ8IVG5.
PeptideAtlasiQ8IVG5.
PRIDEiQ8IVG5.

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

CTDi219285.
DisGeNETi219285.
GeneCardsiSAMD9L.
H-InvDBHIX0168018.
HGNCiHGNC:1349. SAMD9L.
HPAiHPA019461.
HPA019465.
HPA019488.
MIMi611170. gene.
neXtProtiNX_Q8IVG5.
OpenTargetsiENSG00000177409.
PharmGKBiPA25949.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IETT. Eukaryota.
ENOG41124X3. LUCA.
GeneTreeiENSGT00390000013973.
HOVERGENiHBG080713.
InParanoidiQ8IVG5.
OMAiLTCMPYP.
OrthoDBiEOG091G00BC.
PhylomeDBiQ8IVG5.
TreeFamiTF331842.

Miscellaneous databases

ChiTaRSiSAMD9L. human.
GenomeRNAii219285.
PROiQ8IVG5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177409.
ExpressionAtlasiQ8IVG5. baseline and differential.
GenevisibleiQ8IVG5. 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]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSAM9L_HUMAN
AccessioniPrimary (citable) accession number: Q8IVG5
Secondary accession number(s): A0JP23
, A0JP24, A0PJG8, A4D1G8, D6W5Q6, Q2TV71, Q2TV75, Q2UZV8, Q8IWI4, Q8N3L9, Q8N875
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: November 30, 2016
This is version 103 of the entry and version 2 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.