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Protein

Sterile alpha motif domain-containing protein 3

Gene

SAMD3

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

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164483-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Sterile alpha motif domain-containing protein 3
Short name:
SAM domain-containing protein 3
Gene namesi
Name:SAMD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21574. SAMD3.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000164483.
PharmGKBiPA134880481.

Polymorphism and mutation databases

BioMutaiSAMD3.
DMDMi147668009.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002794961 – 520Sterile alpha motif domain-containing protein 3Add BLAST520

Proteomic databases

EPDiQ8N6K7.
PaxDbiQ8N6K7.
PeptideAtlasiQ8N6K7.
PRIDEiQ8N6K7.

PTM databases

iPTMnetiQ8N6K7.
PhosphoSitePlusiQ8N6K7.

Expressioni

Gene expression databases

BgeeiENSG00000164483.
CleanExiHS_SAMD3.
ExpressionAtlasiQ8N6K7. baseline and differential.
GenevisibleiQ8N6K7. HS.

Organism-specific databases

HPAiHPA028992.
HPA028993.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AKAP9Q99996-23EBI-748741,EBI-9641546
C6orf165Q8IYR03EBI-748741,EBI-749051
HSPD1P108093EBI-748741,EBI-352528
KDM1AO603412EBI-748741,EBI-710124
LMO3Q8TAP43EBI-748741,EBI-742259

Protein-protein interaction databases

BioGridi127533. 7 interactors.
IntActiQ8N6K7. 7 interactors.
MINTiMINT-1482339.
STRINGi9606.ENSP00000357116.

Structurei

3D structure databases

ProteinModelPortaliQ8N6K7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 71SAMPROSITE-ProRule annotationAdd BLAST68

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiENOG410KDKV. Eukaryota.
ENOG410Y0ZA. LUCA.
GeneTreeiENSGT00390000012396.
HOGENOMiHOG000154251.
HOVERGENiHBG083919.
InParanoidiQ8N6K7.
OMAiTDIYKKT.
OrthoDBiEOG091G0D70.
PhylomeDBiQ8N6K7.
TreeFamiTF336040.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N6K7-1) [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
METWSVEQVC SWLVEKNLGE LVHRFQEEEV SGAALLALND RMVQQLVKKI
60 70 80 90 100
GHQAVLMDLI KKYKQNTQGL KSPENPKKAA LVMQTEAARD YRDEESSSPA
110 120 130 140 150
RHGEQMPSFY PAENLDNGLI DQRVLKQRRN VKQILARSKA LQWTKSYVLP
160 170 180 190 200
EFPYDVKCML AEQKCPDHSM RIRIIEFLQA DMTKYLEGSL YPSTQQYNDV
210 220 230 240 250
VNALLQAHPF LDEDGCGFFL WKRALKDRFK YVRRPIEDDE QVIRNKCKFG
260 270 280 290 300
HRRGQTRKSL ADIRFDEIKL VQIKEEAVCF DSELDEHIKW FQQEYVKTEK
310 320 330 340 350
DWREIDKRMS QTLEIRRKMI GSRTPLKDIL KLFPFLKCPY QMFREFQLLT
360 370 380 390 400
RTDIYKKTRH ILESYSENIL TSFSVVDNPI NIVLQEKMKH YTDEDMLKYM
410 420 430 440 450
KMTATCLLLP DVFGDDPSLF VIMNEQVQVS TPVLEVKNPF NMEVCEFSLY
460 470 480 490 500
LERERLTKVD DCVTALAALV AAFHVFRIEC PRRLSQTFNF LETLIFDMHS
510 520
PYFPSLKEKE NEVGFQHPLT
Length:520
Mass (Da):61,237
Last modified:March 6, 2007 - v2
Checksum:i660A7C0CF9CC6261
GO
Isoform 2 (identifier: Q8N6K7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-221: FLW → AGV
     222-520: Missing.

Note: No experimental confirmation available.
Show »
Length:221
Mass (Da):25,303
Checksum:i8410F79CB4485F26
GO
Isoform 3 (identifier: Q8N6K7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRSSKLQSPSPSQEKQGVYLQETAM

Show »
Length:544
Mass (Da):63,899
Checksum:i5BB1EBB0E561D42A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti276E → V in BAG63582 (PubMed:14702039).Curated1
Sequence conflicti472A → G in BAC03765 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03091094E → K.1 PublicationCorresponds to variant rs17852709dbSNPEnsembl.1
Natural variantiVAR_069418181D → N.1 PublicationCorresponds to variant rs150968705dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0557381M → MRSSKLQSPSPSQEKQGVYL QETAM in isoform 3. 1 Publication1
Alternative sequenceiVSP_023459219 – 221FLW → AGV in isoform 2. 1 Publication3
Alternative sequenceiVSP_023460222 – 520Missing in isoform 2. 1 PublicationAdd BLAST299

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091351 mRNA. Translation: BAC03644.1.
AK091882 mRNA. Translation: BAC03765.1.
AK302228 mRNA. Translation: BAG63582.1.
AL355581 Genomic DNA. Translation: CAI95328.1.
AL121947 Genomic DNA. No translation available.
CH471051 Genomic DNA. Translation: EAW48069.1.
CH471051 Genomic DNA. Translation: EAW48070.1.
BC029851 mRNA. Translation: AAH29851.1.
BC119757 mRNA. Translation: AAI19758.1.
BC119758 mRNA. Translation: AAI19759.1.
CCDSiCCDS34539.1. [Q8N6K7-1]
CCDS64525.1. [Q8N6K7-3]
RefSeqiNP_001017373.2. NM_001017373.3. [Q8N6K7-1]
NP_001245204.1. NM_001258275.2. [Q8N6K7-1]
NP_001264114.1. NM_001277185.1. [Q8N6K7-3]
XP_016865795.1. XM_017010306.1. [Q8N6K7-1]
UniGeneiHs.440508.

Genome annotation databases

EnsembliENST00000324172; ENSP00000324874; ENSG00000164483. [Q8N6K7-2]
ENST00000368134; ENSP00000357116; ENSG00000164483. [Q8N6K7-1]
ENST00000437477; ENSP00000391163; ENSG00000164483. [Q8N6K7-1]
ENST00000439090; ENSP00000403565; ENSG00000164483. [Q8N6K7-1]
ENST00000457563; ENSP00000402092; ENSG00000164483. [Q8N6K7-3]
GeneIDi154075.
KEGGihsa:154075.
UCSCiuc003qbw.5. human. [Q8N6K7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091351 mRNA. Translation: BAC03644.1.
AK091882 mRNA. Translation: BAC03765.1.
AK302228 mRNA. Translation: BAG63582.1.
AL355581 Genomic DNA. Translation: CAI95328.1.
AL121947 Genomic DNA. No translation available.
CH471051 Genomic DNA. Translation: EAW48069.1.
CH471051 Genomic DNA. Translation: EAW48070.1.
BC029851 mRNA. Translation: AAH29851.1.
BC119757 mRNA. Translation: AAI19758.1.
BC119758 mRNA. Translation: AAI19759.1.
CCDSiCCDS34539.1. [Q8N6K7-1]
CCDS64525.1. [Q8N6K7-3]
RefSeqiNP_001017373.2. NM_001017373.3. [Q8N6K7-1]
NP_001245204.1. NM_001258275.2. [Q8N6K7-1]
NP_001264114.1. NM_001277185.1. [Q8N6K7-3]
XP_016865795.1. XM_017010306.1. [Q8N6K7-1]
UniGeneiHs.440508.

3D structure databases

ProteinModelPortaliQ8N6K7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127533. 7 interactors.
IntActiQ8N6K7. 7 interactors.
MINTiMINT-1482339.
STRINGi9606.ENSP00000357116.

PTM databases

iPTMnetiQ8N6K7.
PhosphoSitePlusiQ8N6K7.

Polymorphism and mutation databases

BioMutaiSAMD3.
DMDMi147668009.

Proteomic databases

EPDiQ8N6K7.
PaxDbiQ8N6K7.
PeptideAtlasiQ8N6K7.
PRIDEiQ8N6K7.

Protocols and materials databases

DNASUi154075.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324172; ENSP00000324874; ENSG00000164483. [Q8N6K7-2]
ENST00000368134; ENSP00000357116; ENSG00000164483. [Q8N6K7-1]
ENST00000437477; ENSP00000391163; ENSG00000164483. [Q8N6K7-1]
ENST00000439090; ENSP00000403565; ENSG00000164483. [Q8N6K7-1]
ENST00000457563; ENSP00000402092; ENSG00000164483. [Q8N6K7-3]
GeneIDi154075.
KEGGihsa:154075.
UCSCiuc003qbw.5. human. [Q8N6K7-1]

Organism-specific databases

CTDi154075.
GeneCardsiSAMD3.
HGNCiHGNC:21574. SAMD3.
HPAiHPA028992.
HPA028993.
neXtProtiNX_Q8N6K7.
OpenTargetsiENSG00000164483.
PharmGKBiPA134880481.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KDKV. Eukaryota.
ENOG410Y0ZA. LUCA.
GeneTreeiENSGT00390000012396.
HOGENOMiHOG000154251.
HOVERGENiHBG083919.
InParanoidiQ8N6K7.
OMAiTDIYKKT.
OrthoDBiEOG091G0D70.
PhylomeDBiQ8N6K7.
TreeFamiTF336040.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164483-MONOMER.

Miscellaneous databases

GenomeRNAii154075.
PROiQ8N6K7.

Gene expression databases

BgeeiENSG00000164483.
CleanExiHS_SAMD3.
ExpressionAtlasiQ8N6K7. baseline and differential.
GenevisibleiQ8N6K7. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSAMD3_HUMAN
AccessioniPrimary (citable) accession number: Q8N6K7
Secondary accession number(s): B4DY20
, E1P576, J3KQK4, Q4VXD8, Q8NAY1, Q8NB96
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: November 2, 2016
This is version 106 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 6
    Human chromosome 6: 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. 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.