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Reviewed, UniProtKB/Swiss-Prot Q9NSI8 (SAMN1_HUMAN)

Last modified June 16, 2009. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    SAM domain-containing protein SAMSN-1
Alternative name(s):
    SAM domain, SH3 domain and nuclear localization signals protein 1
    SH3-SAM adaptor protein
    Hematopoietic adaptor containing SH3 and SAM domains 1
Gene names
Name: SAMSN1
Synonyms: HACS1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length373 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Sequence similarities

Contains 1 SAM (sterile alpha motif) domain.

Contains 1 SH3 domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSH3 domain
   PTMPhosphoprotein
Gene Ontology (GO)
   Molecular functionphosphotyrosine binding

Inferred from direct assay. Source: MGI

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NSI8-1)

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.
Isoform 2 (identifier: Q9NSI8-2)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     19-186: Missing.
Isoform 3 (identifier: Q9NSI8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MLKRKPSNVSEKEKHQKPK → MDLLHSW

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 373373SAM domain-containing protein SAMSN-1
PRO_0000097574

Regions

Domain166 – 22257SH3
Domain241 – 30565SAM

Amino acid modifications

Modified residue901Phosphoserine By similarity
Modified residue1601Phosphotyrosine By similarity

Natural variations

Alternative sequence1 – 1919MLKRK…HQKPK → MDLLHSW in isoform 3.
VSP_008120
Alternative sequence19 – 186168Missing in isoform 2.
VSP_008119
Natural variant631G → A: dbSNP rs34607574.
VAR_051331

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 964B852ADBA2D777

FASTA37341,708
        10         20         30         40         50         60 
MLKRKPSNVS EKEKHQKPKR SSSFGNFDRF RNNSLSKPDD STEAHEGDPT NGSGEQSKTS 

        70         80         90        100        110        120 
NNGGGLGKKM RAISWTMKKK VGKKYIKALS EEKDEEDGEN AHPYRNSDPV IGTHTEKVSL 

       130        140        150        160        170        180 
KASDSMDSLY SGQSSSSGIT SCSDGTSNRD SFRLDDDGPY SGPFCGRARV HTDFTPSPYD 

       190        200        210        220        230        240 
TDSLKIKKGD IIDIICKTPM GMWTGMLNNK VGNFKFIYVD VISEEEAAPK KIKANRRSNS 

       250        260        270        280        290        300 
KKSKTLQEFL ERIHLQEYTS TLLLNGYETL EDLKDIKESH LIELNIENPD DRRRLLSAAE 

       310        320        330        340        350        360 
NFLEEEIIQE QENEPEPLSL SSDISLNKSQ LDDCPRDSGC YISSGNSDNG KEDLESENLS 

       370 
DMVHKIIITE PSD 

« Hide

Isoform 2 (b).

Checksum: 362B2FB490B972BE
Show »

FASTA20523,466
Isoform 3.

Checksum: 75BEEFB08EE51C3D
Show »

FASTA36140,316

References

« Hide 'large scale' references
[1]"A novel gene, located on human chromosome 21q11."
Groet J., Blechschmidt K., Yaspo M., Rosenthal A., Nizetic D.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"HACS1 encodes a novel SH3-SAM adaptor protein differentially expressed in normal and malignant hematopoietic cells."
Claudio J.O., Zhu Y.X., Benn S.J., Shukla A.H., McGlade C.J., Falcioni N., Stewart A.K.
Oncogene 20:5373-5377(2001) [PubMed: 11536050] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]"Transcriptional map of the juxtacentromeric region of human chromosome 21."
Brun M.-E., Ruault M., Roizes G., De Sario A.
Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Thymus.
[4]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed: 10830953] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lymph.
[6]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF222927 mRNA. Translation: AAG23355.1.
AF218085 mRNA. Translation: AAK07746.1.
AF519621 mRNA. Translation: AAM75349.1.
AL163206 Genomic DNA. Translation: CAB90391.1.
BC029112 mRNA. Translation: AAH29112.1.
IPIIPI00168831.
IPI00339277.
IPI00854619.
RefSeqNP_071419.3.
UniGeneHs.473341
Hs.570423

3D structure databases

HSSPHSSP built from PDB template 1SEM based on UniProtKB P29355.
SMRQ9NSI8. Positions 234-303.
ModBaseSearch...

PTM databases

PhosphoSiteQ9NSI8.

Proteomic databases

PRIDEQ9NSI8.

Genome annotation databases

EnsemblENSG00000155307. Homo sapiens. [Contig view]
GeneID64092.
KEGGhsa:64092.

Organism-specific databases

GeneCardsGC21M014779.
HGNCHGNC:10528. SAMSN1.
HPAHPA010645.
HPA017055.
MIM607978. gene.
PharmGKBPA34939.
GenAtlasSearch...

Phylogenomic databases

HOVERGENQ9NSI8.
OMAQ9NSI8. RRAWKER.

Gene expression databases

ArrayExpressQ9NSI8.
BgeeQ9NSI8.
CleanExHS_SAMSN1.
GermOnlineENSG00000155307. Homo sapiens.

Family and domain databases

InterProIPR001660. SAM.
IPR011510. SAM_2.
IPR013761. SAM_type.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
Gene3DG3DSA:1.10.150.50. SAM_type. 1 hit.
PfamPF07647. SAM_2. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
SMARTSM00454. SAM. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
PROSITEPS50105. SAM_DOMAIN. 1 hit.
PS50002. SH3. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio65904.
SOURCESearch...

Entry information

Entry nameSAMN1_HUMAN
AccessionPrimary (citable) accession number: Q9NSI8
Secondary accession number(s): Q8NFF7, Q9C041
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: June 16, 2009
This is version 69 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents