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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 transcript 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

HGNCiHGNC:28706. SAMD11.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134968665.

Polymorphism and mutation databases

BioMutaiSAMD11.
DMDMi166215037.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 681681Sterile alpha motif domain-containing protein 11PRO_0000279500Add
BLAST

Proteomic databases

MaxQBiQ96NU1.
PaxDbiQ96NU1.
PRIDEiQ96NU1.

PTM databases

iPTMnetiQ96NU1.
PhosphoSiteiQ96NU1.
SwissPalmiQ96NU1.

Expressioni

Gene expression databases

BgeeiQ96NU1.
CleanExiHS_SAMD11.
ExpressionAtlasiQ96NU1. baseline and differential.
GenevisibleiQ96NU1. HS.

Organism-specific databases

HPAiHPA030110.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi127146. 7 interactions.
STRINGi9606.ENSP00000342313.

Structurei

3D structure databases

ProteinModelPortaliQ96NU1.
SMRiQ96NU1. Positions 543-597.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini543 – 60866SAMPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiENOG410IGHY. Eukaryota.
ENOG4112BEA. LUCA.
GeneTreeiENSGT00550000074459.
HOGENOMiHOG000154248.
HOVERGENiHBG059816.
InParanoidiQ96NU1.
OrthoDBiEOG7NSB1T.
PhylomeDBiQ96NU1.
TreeFamiTF331299.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF07647. SAM_2. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

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 BAB70781.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI15563.3 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI15564.3 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti129 – 1291C → L in AAH24295 (PubMed:15489334).Curated
Sequence conflicti162 – 1621F → L in AFP36417 (PubMed:23978614).Curated
Sequence conflicti343 – 3431W → R in AFP36417 (PubMed:23978614).Curated
Sequence conflicti343 – 3431W → R in AFP36421 (PubMed:23978614).Curated
Sequence conflicti343 – 3431W → R in AFP36422 (PubMed:23978614).Curated
Sequence conflicti343 – 3431W → R in BAB70781 (PubMed:14702039).Curated
Sequence conflicti343 – 3431W → R in AAH24295 (PubMed:15489334).Curated
Sequence conflicti343 – 3431W → R in AAH33213 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 185185Missing in isoform 1 and isoform 2. 2 PublicationsVSP_053647Add
BLAST
Alternative sequencei173 – 1731Q → QA in isoform 4 and isoform 5. 1 PublicationVSP_053648
Alternative sequencei220 – 23516Missing in isoform 1, isoform 4, isoform 5 and isoform 6. 2 PublicationsVSP_053649Add
BLAST
Alternative sequencei601 – 6011V → VRRWGVRSGSPDHSWAESSG WVCDSPHQAISLQV in isoform 2 and isoform 5. 3 PublicationsVSP_053650

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ96NU1.
SMRiQ96NU1. Positions 543-597.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127146. 7 interactions.
STRINGi9606.ENSP00000342313.

PTM databases

iPTMnetiQ96NU1.
PhosphoSiteiQ96NU1.
SwissPalmiQ96NU1.

Polymorphism and mutation databases

BioMutaiSAMD11.
DMDMi166215037.

Proteomic databases

MaxQBiQ96NU1.
PaxDbiQ96NU1.
PRIDEiQ96NU1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi148398.
GeneCardsiSAMD11.
HGNCiHGNC:28706. SAMD11.
HPAiHPA030110.
neXtProtiNX_Q96NU1.
PharmGKBiPA134968665.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGHY. Eukaryota.
ENOG4112BEA. LUCA.
GeneTreeiENSGT00550000074459.
HOGENOMiHOG000154248.
HOVERGENiHBG059816.
InParanoidiQ96NU1.
OrthoDBiEOG7NSB1T.
PhylomeDBiQ96NU1.
TreeFamiTF331299.

Miscellaneous databases

ChiTaRSiSAMD11. human.
GenomeRNAii148398.
PROiQ96NU1.

Gene expression databases

BgeeiQ96NU1.
CleanExiHS_SAMD11.
ExpressionAtlasiQ96NU1. baseline and differential.
GenevisibleiQ96NU1. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF07647. SAM_2. 1 hit.
[Graphical view]
SMARTiSM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of novel alternative splice variants of human SAMD11."
    Jin G., Long C., Liu W., Tang Y., Zhu Y., Zhou X., Ai Y., Zhang Q., Shen H.
    Gene 530:215-221(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6), ALTERNATIVE SPLICING, ALTERNATIVE PROMOTER USAGE.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Eye.

Entry informationi

Entry nameiSAM11_HUMAN
AccessioniPrimary (citable) accession number: Q96NU1
Secondary accession number(s): A2AA76
, I7FV78, I7FV81, I7G0Z6, Q5SV96, Q5SV99, Q5SVA0, Q8N195, Q8TB59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: January 15, 2008
Last modified: June 8, 2016
This is version 103 of the entry and version 3 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. 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.