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Protein

Sterile alpha motif domain-containing protein 11

Gene

SAMD11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in photoreceptor development.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Sterile alpha motif domain-containing protein 11
Short name:
SAM domain-containing protein 11
Gene namesi
Name:SAMD11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000187634.10.
HGNCiHGNC:28706. SAMD11.

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi148398.
OpenTargetsiENSG00000187634.
PharmGKBiPA134968665.

Polymorphism and mutation databases

BioMutaiSAMD11.
DMDMi166215037.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002795001 – 681Sterile alpha motif domain-containing protein 11Add BLAST681

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki72Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei485PhosphothreonineCombined sources1
Modified residuei640PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ96NU1.
PeptideAtlasiQ96NU1.
PRIDEiQ96NU1.

PTM databases

iPTMnetiQ96NU1.
PhosphoSitePlusiQ96NU1.
SwissPalmiQ96NU1.

Expressioni

Gene expression databases

BgeeiENSG00000187634.
CleanExiHS_SAMD11.
ExpressionAtlasiQ96NU1. baseline and differential.
GenevisibleiQ96NU1. HS.

Organism-specific databases

HPAiHPA030110.

Interactioni

Subunit structurei

Homodimer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
JMJD7P0C8704EBI-14067109,EBI-9090173

Protein-protein interaction databases

BioGridi127146. 8 interactors.
IntActiQ96NU1. 14 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ96NU1.
SMRiQ96NU1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini543 – 608SAMPROSITE-ProRule annotationAdd BLAST66

Phylogenomic databases

eggNOGiENOG410IGHY. Eukaryota.
ENOG4112BEA. LUCA.
GeneTreeiENSGT00550000074459.
HOGENOMiHOG000154248.
HOVERGENiHBG059816.
InParanoidiQ96NU1.
PhylomeDBiQ96NU1.
TreeFamiTF331299.

Family and domain databases

InterProiView protein in InterPro
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.
PROSITEiView protein in PROSITE
PS50105. SAM_DOMAIN. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Note: Many additional isoforms seem to exist.
Isoform 3 (identifier: Q96NU1-3) [UniParc]FASTAAdd to basket
Also known as: FL-SAMD11

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
MSKGILQVHP PICDCPGCRI SSPVNRGRLA DKRTVALPAA RNLKKERTPS
60 70 80 90 100
FSASDGDSDG SGPTCGRRPG LKQEDGPHIR IMKRRVHTHW DVNISFREAS
110 120 130 140 150
CSQDGNLPTL ISSVHRSRHL VMPEHQSRCE FQRGSLEIGL RPAGDLLGKR
160 170 180 190 200
LGRSPRISSD CFSEKRARSE SPQEALLLPR ELGPSMAPED HYRRLVSALS
210 220 230 240 250
EASTFEDPQR LYHLGLPSHG EDPPWHDPPH HLPSHDLLRV RQEVAAAALR
260 270 280 290 300
GPSGLEAHLP SSTAGQRRKQ GLAQHREGAA PAAAPSFSER ELPQPPPLLS
310 320 330 340 350
PQNAPHVALG PHLRPPFLGV PSALCQTPGY GFLPPAQAEM FAWQQELLRK
360 370 380 390 400
QNLARLELPA DLLRQKELES ARPQLLAPET ALRPNDGAEE LQRRGALLVL
410 420 430 440 450
NHGAAPLLAL PPQGPPGSGP PTPSRDSARR APRKGGPGPA SARPSESKEM
460 470 480 490 500
TGARLWAQDG SEDEPPKDSD GEDPETAAVG CRGPTPGQAP AGGAGAEGKG
510 520 530 540 550
LFPGSTLPLG FPYAVSPYFH TGAVGGLSMD GEEAPAPEDV TKWTVDDVCS
560 570 580 590 600
FVGGLSGCGE YTRVFREQGI DGETLPLLTE EHLLTNMGLK LGPALKIRAQ
610 620 630 640 650
VARRLGRVFY VASFPVALPL QPPTLRAPER ELGTGEQPLS PTTATSPYGG
660 670 680
GHALAGQTSP KQENGTLALL PGAPDPSQPL C
Length:681
Mass (Da):72,708
Last modified:January 15, 2008 - v3
Checksum:i5ED0792A8997DFF7
GO
Isoform 1 (identifier: Q96NU1-1) [UniParc]FASTAAdd to basket
Also known as: SAMD11-ASV

The sequence of this isoform differs from the canonical sequence as follows:
     1-185: Missing.
     220-235: Missing.

Note: Produced by alternative promoter usage.
Show »
Length:480
Mass (Da):50,485
Checksum:i49417F0B6AF75DAD
GO
Isoform 2 (identifier: Q96NU1-2) [UniParc]FASTAAdd to basket
Also known as: AP-SAMD11-ASV

The sequence of this isoform differs from the canonical sequence as follows:
     1-185: Missing.
     601-601: V → VRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQV

Note: Produced by alternative promoter usage and alternative splicing.
Show »
Length:529
Mass (Da):55,983
Checksum:i866D06458EBEB3AC
GO
Isoform 4 (identifier: Q96NU1-4) [UniParc]FASTAAdd to basket
Also known as: SAMD11-ASV5

The sequence of this isoform differs from the canonical sequence as follows:
     173-173: Q → QA
     220-235: Missing.

Note: Produced by alternative splicing.
Show »
Length:666
Mass (Da):70,942
Checksum:iDDA6EB5A74B3A39B
GO
Isoform 5 (identifier: Q96NU1-5) [UniParc]FASTAAdd to basket
Also known as: SAMD11-ASV1

The sequence of this isoform differs from the canonical sequence as follows:
     173-173: Q → QA
     220-235: Missing.
     601-601: V → VRRWGVRSGSPDHSWAESSGWVCDSPHQAISLQV

Note: Produced by alternative splicing.
Show »
Length:699
Mass (Da):74,603
Checksum:iA8FDB0C5F9DB4452
GO
Isoform 6 (identifier: Q96NU1-6) [UniParc]FASTAAdd to basket
Also known as: SAMD11-ASV6

The sequence of this isoform differs from the canonical sequence as follows:
     220-235: Missing.

Note: Produced by alternative splicing.
Show »
Length:665
Mass (Da):70,871
Checksum:iDD27AA0A40248F50
GO

Sequence cautioni

The sequence BAB70781 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI15563 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI15564 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti129C → L in AAH24295 (PubMed:15489334).Curated1
Sequence conflicti162F → L in AFP36417 (PubMed:23978614).Curated1
Sequence conflicti343W → R in AFP36417 (PubMed:23978614).Curated1
Sequence conflicti343W → R in AFP36421 (PubMed:23978614).Curated1
Sequence conflicti343W → R in AFP36422 (PubMed:23978614).Curated1
Sequence conflicti343W → R in BAB70781 (PubMed:14702039).Curated1
Sequence conflicti343W → R in AAH24295 (PubMed:15489334).Curated1
Sequence conflicti343W → R in AAH33213 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0536471 – 185Missing in isoform 1 and isoform 2. 2 PublicationsAdd BLAST185
Alternative sequenceiVSP_053648173Q → QA in isoform 4 and isoform 5. 1 Publication1
Alternative sequenceiVSP_053649220 – 235Missing in isoform 1, isoform 4, isoform 5 and isoform 6. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_053650601V → VRRWGVRSGSPDHSWAESSG WVCDSPHQAISLQV in isoform 2 and isoform 5. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JX093066 mRNA. Translation: AFP36417.1.
JX093070 mRNA. Translation: AFP36421.1.
JX093071 mRNA. Translation: AFP36422.1.
AK054643 mRNA. Translation: BAB70781.1. Different initiation.
AL645608 Genomic DNA. Translation: CAI15563.3. Sequence problems.
AL645608 Genomic DNA. Translation: CAI15564.3. Sequence problems.
AL645608 Genomic DNA. Translation: CAM12827.2.
BC024295 mRNA. Translation: AAH24295.1.
BC033213 mRNA. Translation: AAH33213.1.
CCDSiCCDS2.2. [Q96NU1-3]
RefSeqiNP_689699.2. NM_152486.2.
UniGeneiHs.335293.

Genome annotation databases

EnsembliENST00000342066; ENSP00000342313; ENSG00000187634. [Q96NU1-3]
GeneIDi148398.
KEGGihsa:148398.
UCSCiuc001abw.2. human. [Q96NU1-3]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSAM11_HUMAN
AccessioniPrimary (citable) accession number: Q96NU1
Secondary accession number(s): A2AA76
, I7FV78, I7FV81, I7G0Z6, Q5SV96, Q5SV99, Q5SVA0, Q8N195, Q8TB59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: January 15, 2008
Last modified: November 22, 2017
This is version 113 of the entry and version 3 of the sequence. See 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM