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Protein

SAM and SH3 domain-containing protein 1

Gene

SASH1

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

Functioni

May have a role in a signaling pathway. Could act as a tumor suppressor.

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
SAM and SH3 domain-containing protein 1
Alternative name(s):
Proline-glutamate repeat-containing protein
Gene namesi
Name:SASH1
Synonyms:KIAA0790, PEPE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000111961.16
HGNCiHGNC:19182 SASH1
MIMi607955 gene
neXtProtiNX_O94885

Subcellular locationi

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi23328
MalaCardsiSASH1
OpenTargetsiENSG00000111961
Orphaneti231040 Familial generalized lentiginosis
447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
PharmGKBiPA134984521

Polymorphism and mutation databases

BioMutaiSASH1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975971 – 1247SAM and SH3 domain-containing protein 1Add BLAST1247

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei90PhosphoserineCombined sources1
Modified residuei248PhosphoserineBy similarity1
Modified residuei407PhosphoserineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei821PhosphoserineBy similarity1
Modified residuei839PhosphoserineBy similarity1
Modified residuei858PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94885
MaxQBiO94885
PaxDbiO94885
PeptideAtlasiO94885
PRIDEiO94885
ProteomicsDBi50522

PTM databases

iPTMnetiO94885
PhosphoSitePlusiO94885

Expressioni

Tissue specificityi

Expressed ubiquitously, with highest levels in lung, placenta, spleen and thymus. Down-regulated in the majority (74%) of breast tumors in comparison with corresponding normal breast epithelial tissues.1 Publication

Gene expression databases

BgeeiENSG00000111961 Expressed in 235 organ(s), highest expression level in substantia nigra
CleanExiHS_SASH1
ExpressionAtlasiO94885 baseline and differential
GenevisibleiO94885 HS

Organism-specific databases

HPAiHPA029947
HPA029949

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116916, 12 interactors
IntActiO94885, 8 interactors
MINTiO94885
STRINGi9606.ENSP00000356437

Structurei

Secondary structure

11247
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO94885
SMRiO94885
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO94885

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini554 – 615SH3PROSITE-ProRule annotationAdd BLAST62
Domaini633 – 697SAM 1PROSITE-ProRule annotationAdd BLAST65
Domaini1177 – 1241SAM 2PROSITE-ProRule annotationAdd BLAST65

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 33Pro-richAdd BLAST25
Compositional biasi978 – 1059Pro-richAdd BLAST82

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiENOG410INAU Eukaryota
ENOG410ZDYS LUCA
GeneTreeiENSGT00390000014672
HOGENOMiHOG000139718
HOVERGENiHBG058816
InParanoidiO94885
OMAiHVDKPKL
OrthoDBiEOG091G0BS1
PhylomeDBiO94885
TreeFamiTF350709

Family and domain databases

CDDicd09559 SAM_SASH1_repeat1, 1 hit
cd09492 SAM_SASH1_repeat2, 1 hit
cd11967 SH3_SASH1, 1 hit
InterProiView protein in InterPro
IPR021090 rSAM/SH3_domain-containing
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR037627 SASH1_SAM_repeat1
IPR037630 SASH1_SAM_repeat2
IPR035720 SASH1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00536 SAM_1, 1 hit
PF07647 SAM_2, 1 hit
PF07653 SH3_2, 1 hit
PF12485 SLY, 1 hit
SMARTiView protein in SMART
SM00454 SAM, 2 hits
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 2 hits
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 2 hits
PS50002 SH3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

O94885-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEDAGAAGPG PEPEPEPEPE PEPAPEPEPE PKPGAGTSEA FSRLWTDVMG
60 70 80 90 100
ILDGSLGNID DLAQQYADYY NTCFSDVCER MEELRKRRVS QDLEVEKPDA
110 120 130 140 150
SPTSLQLRSQ IEESLGFCSA VSTPEVERKN PLHKSNSEDS SVGKGDWKKK
160 170 180 190 200
NKYFWQNFRK NQKGIMRQTS KGEDVGYVAS EITMSDEERI QLMMMVKEKM
210 220 230 240 250
ITIEEALARL KEYEAQHRQS AALDPADWPD GSYPTFDGSS NCNSREQSDD
260 270 280 290 300
ETEESVKFKR LHKLVNSTRR VRKKLIRVEE MKKPSTEGGE EHVFENSPVL
310 320 330 340 350
DERSALYSGV HKKPLFFDGS PEKPPEDDSD SLTTSPSSSS LDTWGAGRKL
360 370 380 390 400
VKTFSKGESR GLIKPPKKMG TFFSYPEEEK AQKVSRSLTE GEMKKGLGSL
410 420 430 440 450
SHGRTCSFGG FDLTNRSLHV GSNNSDPMGK EGDFVYKEVI KSPTASRISL
460 470 480 490 500
GKKVKSVKET MRKRMSKKYS SSVSEQDSGL DGMPGSPPPS QPDPEHLDKP
510 520 530 540 550
KLKAGGSVES LRSSLSGQSS MSGQTVSTTD SSTSNRESVK SEDGDDEEPP
560 570 580 590 600
YRGPFCGRAR VHTDFTPSPY DTDSLKLKKG DIIDIISKPP MGTWMGLLNN
610 620 630 640 650
KVGTFKFIYV DVLSEDEEKP KRPTRRRRKG RPPQPKSVED LLDRINLKEH
660 670 680 690 700
MPTFLFNGYE DLDTFKLLEE EDLDELNIRD PEHRAVLLTA VELLQEYDSN
710 720 730 740 750
SDQSGSQEKL LVDSQGLSGC SPRDSGCYES SENLENGKTR KASLLSAKSS
760 770 780 790 800
TEPSLKSFSR NQLGNYPTLP LMKSGDALKQ GQEEGRLGGG LAPDTSKSCD
810 820 830 840 850
PPGVTGLNKN RRSLPVSICR SCETLEGPQT VDTWPRSHSL DDLQVEPGAE
860 870 880 890 900
QDVPTEVTEP PPQIVPEVPQ KTTASSTKAQ PLEQDSAVDN ALLLTQSKRF
910 920 930 940 950
SEPQKLTTKK LEGSIAASGR GLSPPQCLPR NYDAQPPGAK HGLARTPLEG
960 970 980 990 1000
HRKGHEFEGT HHPLGTKEGV DAEQRMQPKI PSQPPPVPAK KSRERLANGL
1010 1020 1030 1040 1050
HPVPMGPSGA LPSPDAPCLP VKRGSPASPT SPSDCPPALA PRPLSGQAPG
1060 1070 1080 1090 1100
SPPSTRPPPW LSELPENTSL QEHGVKLGPA LTRKVSCARG VDLETLTENK
1110 1120 1130 1140 1150
LHAEGIDLTE EPYSDKHGRC GIPEALVQRY AEDLDQPERD VAANMDQIRV
1160 1170 1180 1190 1200
KQLRKQHRMA IPSGGLTEIC RKPVSPGCIS SVSDWLISIG LPMYAGTLST
1210 1220 1230 1240
AGFSTLSQVP SLSHTCLQEA GITEERHIRK LLSAARLFKL PPGPEAM
Length:1,247
Mass (Da):136,653
Last modified:April 17, 2007 - v3
Checksum:i48A806B3AE32E563
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WW74A0A087WW74_HUMAN
SAM and SH3 domain-containing prote...
SASH1
657Annotation score:
A0A1B0GVI0A0A1B0GVI0_HUMAN
SAM and SH3 domain-containing prote...
SASH1
161Annotation score:
A0A1B0GWB9A0A1B0GWB9_HUMAN
SAM and SH3 domain-containing prote...
SASH1
359Annotation score:
A0A1B0GVF9A0A1B0GVF9_HUMAN
SAM and SH3 domain-containing prote...
SASH1
41Annotation score:

Sequence cautioni

The sequence BAA34510 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB14909 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti751T → A in BAB14909 (PubMed:14702039).Curated1
Sequence conflicti1157H → R in BAB14909 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031714298P → Q. Corresponds to variant dbSNP:rs35078400Ensembl.1
Natural variantiVAR_031715884Q → R3 PublicationsCorresponds to variant dbSNP:rs208696Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ507735 mRNA Translation: CAD47811.1
BN000088 mRNA Translation: CAD92036.1
AY351979
, AY351960, AY351961, AY351962, AY351963, AY351964, AY351965, AY351966, AY351967, AY351968, AY351969, AY351970, AY351971, AY351972, AY351973, AY351974, AY351975, AY351976, AY351977, AY351978 Genomic DNA Translation: AAQ55463.1
AB018333 mRNA Translation: BAA34510.1 Different initiation.
AL513164 Genomic DNA No translation available.
AL033378 Genomic DNA No translation available.
AK024403 mRNA Translation: BAB14909.1 Different initiation.
CH471051 Genomic DNA Translation: EAW47815.1
BC028303 mRNA Translation: AAH28303.1
CCDSiCCDS5212.1
RefSeqiNP_056093.3, NM_015278.4
UniGeneiHs.193133

Genome annotation databases

EnsembliENST00000367467; ENSP00000356437; ENSG00000111961
GeneIDi23328
KEGGihsa:23328
UCSCiuc003qme.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ507735 mRNA Translation: CAD47811.1
BN000088 mRNA Translation: CAD92036.1
AY351979
, AY351960, AY351961, AY351962, AY351963, AY351964, AY351965, AY351966, AY351967, AY351968, AY351969, AY351970, AY351971, AY351972, AY351973, AY351974, AY351975, AY351976, AY351977, AY351978 Genomic DNA Translation: AAQ55463.1
AB018333 mRNA Translation: BAA34510.1 Different initiation.
AL513164 Genomic DNA No translation available.
AL033378 Genomic DNA No translation available.
AK024403 mRNA Translation: BAB14909.1 Different initiation.
CH471051 Genomic DNA Translation: EAW47815.1
BC028303 mRNA Translation: AAH28303.1
CCDSiCCDS5212.1
RefSeqiNP_056093.3, NM_015278.4
UniGeneiHs.193133

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DL0NMR-A1164-1247[»]
2EBPNMR-A555-614[»]
ProteinModelPortaliO94885
SMRiO94885
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116916, 12 interactors
IntActiO94885, 8 interactors
MINTiO94885
STRINGi9606.ENSP00000356437

PTM databases

iPTMnetiO94885
PhosphoSitePlusiO94885

Polymorphism and mutation databases

BioMutaiSASH1

Proteomic databases

EPDiO94885
MaxQBiO94885
PaxDbiO94885
PeptideAtlasiO94885
PRIDEiO94885
ProteomicsDBi50522

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367467; ENSP00000356437; ENSG00000111961
GeneIDi23328
KEGGihsa:23328
UCSCiuc003qme.2 human

Organism-specific databases

CTDi23328
DisGeNETi23328
EuPathDBiHostDB:ENSG00000111961.16
GeneCardsiSASH1
H-InvDBiHIX0006282
HGNCiHGNC:19182 SASH1
HPAiHPA029947
HPA029949
MalaCardsiSASH1
MIMi607955 gene
neXtProtiNX_O94885
OpenTargetsiENSG00000111961
Orphaneti231040 Familial generalized lentiginosis
447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
PharmGKBiPA134984521
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INAU Eukaryota
ENOG410ZDYS LUCA
GeneTreeiENSGT00390000014672
HOGENOMiHOG000139718
HOVERGENiHBG058816
InParanoidiO94885
OMAiHVDKPKL
OrthoDBiEOG091G0BS1
PhylomeDBiO94885
TreeFamiTF350709

Miscellaneous databases

ChiTaRSiSASH1 human
EvolutionaryTraceiO94885
GeneWikiiSASH1
GenomeRNAii23328
PROiPR:O94885
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111961 Expressed in 235 organ(s), highest expression level in substantia nigra
CleanExiHS_SASH1
ExpressionAtlasiO94885 baseline and differential
GenevisibleiO94885 HS

Family and domain databases

CDDicd09559 SAM_SASH1_repeat1, 1 hit
cd09492 SAM_SASH1_repeat2, 1 hit
cd11967 SH3_SASH1, 1 hit
InterProiView protein in InterPro
IPR021090 rSAM/SH3_domain-containing
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR037627 SASH1_SAM_repeat1
IPR037630 SASH1_SAM_repeat2
IPR035720 SASH1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00536 SAM_1, 1 hit
PF07647 SAM_2, 1 hit
PF07653 SH3_2, 1 hit
PF12485 SLY, 1 hit
SMARTiView protein in SMART
SM00454 SAM, 2 hits
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 2 hits
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 2 hits
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSASH1_HUMAN
AccessioniPrimary (citable) accession number: O94885
Secondary accession number(s): Q5TGN5, Q8TAI0, Q9H7R7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: April 17, 2007
Last modified: November 7, 2018
This is version 154 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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