Reviewed, UniProtKB/Swiss-Prot Q9NSI8 (SAMN1_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	373 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Sequence similarities

Contains 1 SAM (sterile alpha motif) domain. Contains 1 SH3 domain.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	SH3 domain
PTM	Phosphoprotein
Gene Ontology (GO)
Molecular function	phosphotyrosine 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 373	373	SAM domain-containing protein SAMSN-1		PRO_0000097574
Regions
	Domain	166 – 222	57	SH3
	Domain	241 – 305	65	SAM
Amino acid modifications
	Modified residue	90	1	Phosphoserine By similarity
	Modified residue	160	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	1 – 19	19	MLKRK…HQKPK → MDLLHSW in isoform 3.		VSP_008120
	Alternative sequence	19 – 186	168	Missing in isoform 2.		VSP_008119
	Natural variant	63	1	G → A: dbSNP rs34607574.		VAR_051331

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 964B852ADBA2D777	FASTA	373	41,708
	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
	Isoform 2 (b). Checksum: 362B2FB490B972BE	FASTA	205	23,466
	10 20 30 40 50 60 MLKRKPSNVS EKEKHQKPKK GDIIDIICKT PMGMWTGMLN NKVGNFKFIY VDVISEEEAA 70 80 90 100 110 120 PKKIKANRRS NSKKSKTLQE FLERIHLQEY TSTLLLNGYE TLEDLKDIKE SHLIELNIEN 130 140 150 160 170 180 PDDRRRLLSA AENFLEEEII QEQENEPEPL SLSSDISLNK SQLDDCPRDS GCYISSGNSD 190 200 NGKEDLESEN LSDMVHKIII TEPSD
	Isoform 3. Checksum: 75BEEFB08EE51C3D	FASTA	361	40,316
	10 20 30 40 50 60 MDLLHSWRSS SFGNFDRFRN NSLSKPDDST EAHEGDPTNG SGEQSKTSNN GGGLGKKMRA 70 80 90 100 110 120 ISWTMKKKVG KKYIKALSEE KDEEDGENAH PYRNSDPVIG THTEKVSLKA SDSMDSLYSG 130 140 150 160 170 180 QSSSSGITSC SDGTSNRDSF RLDDDGPYSG PFCGRARVHT DFTPSPYDTD SLKIKKGDII 190 200 210 220 230 240 DIICKTPMGM WTGMLNNKVG NFKFIYVDVI SEEEAAPKKI KANRRSNSKK SKTLQEFLER 250 260 270 280 290 300 IHLQEYTSTL LLNGYETLED LKDIKESHLI ELNIENPDDR RRLLSAAENF LEEEIIQEQE 310 320 330 340 350 360 NEPEPLSLSS DISLNKSQLD DCPRDSGCYI SSGNSDNGKE DLESENLSDM VHKIIITEPS D

References

	« Hide 'large scale' referencesShow '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. , 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
EMBLGenBankDDBJ	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.
IPI	IPI00168831. IPI00339277. IPI00854619.
RefSeq	NP_071419.3.
UniGene	Hs.473341 Hs.570423
3D structure databases
HSSP	HSSP built from PDB template 1SEM based on UniProtKB P29355.
SMR	Q9NSI8. Positions 234-303.
ModBase	Search...
PTM databases
PhosphoSite	Q9NSI8.
Proteomic databases
PRIDE	Q9NSI8.
Genome annotation databases
Ensembl	ENSG00000155307. Homo sapiens. [Contig view]
GeneID	64092.
KEGG	hsa:64092.
Organism-specific databases
GeneCards	GC21M014779.
HGNC	HGNC:10528. SAMSN1.
HPA	HPA010645. HPA017055.
MIM	607978. gene.
PharmGKB	PA34939.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NSI8.
OMA	Q9NSI8. RRAWKER.
Gene expression databases
ArrayExpress	Q9NSI8.
Bgee	Q9NSI8.
CleanEx	HS_SAMSN1.
GermOnline	ENSG00000155307. Homo sapiens.
Family and domain databases
InterPro	IPR001660. SAM. IPR011510. SAM_2. IPR013761. SAM_type. IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view]
Gene3D	G3DSA:1.10.150.50. SAM_type. 1 hit.
Pfam	PF07647. SAM_2. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view]
SMART	SM00454. SAM. 1 hit. SM00326. SH3. 1 hit. [Graphical view]
PROSITE	PS50105. SAM_DOMAIN. 1 hit. PS50002. SH3. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	65904.
SOURCE	Search...

Entry information

Entry name

SAMN1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)