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Protein

Protein SSUH2 homolog

Gene

SSUH2

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

Functioni

Plays a role in odontogenesis.1 Publication

GO - Biological processi

  • odontogenesis Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SSUH2 homolog
Alternative name(s):
Protein ssu-2 homolog
Gene namesi
Name:SSUH2
Synonyms:C3orf32
ORF Names:FLS485
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000125046.14
HGNCiHGNC:24809 SSUH2
MIMi617479 gene
neXtProtiNX_Q9Y2M2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in SSUH2 are associated with dentin dysplasia, a genetic disorder characterized by severe tooth hypermobility, short dental roots, and obliterated pulp chambers.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51066
MalaCardsiSSUH2
OpenTargetsiENSG00000125046
PharmGKBiPA142672393

Polymorphism and mutation databases

BioMutaiSSUH2
DMDMi74721317

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002600821 – 353Protein SSUH2 homologAdd BLAST353

Proteomic databases

PaxDbiQ9Y2M2
PeptideAtlasiQ9Y2M2
PRIDEiQ9Y2M2

PTM databases

iPTMnetiQ9Y2M2
PhosphoSitePlusiQ9Y2M2

Expressioni

Tissue specificityi

Expressed in enterocytes of small and large intestinal mucosa (at protein level). Expressed in chromaffine and interstitial cells. Expressed in peripheral blood and gingival cells (PubMed:27680507).2 Publications

Gene expression databases

BgeeiENSG00000125046
CleanExiHS_C3orf32
ExpressionAtlasiQ9Y2M2 baseline and differential
GenevisibleiQ9Y2M2 HS

Organism-specific databases

HPAiHPA049777

Interactioni

Protein-protein interaction databases

BioGridi119257, 1 interactor
IntActiQ9Y2M2, 5 interactors
MINTiQ9Y2M2

Structurei

3D structure databases

ProteinModelPortaliQ9Y2M2
SMRiQ9Y2M2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi155 – 218Cys-richAdd BLAST64

Phylogenomic databases

eggNOGiKOG2813 Eukaryota
ENOG410XR3K LUCA
GeneTreeiENSGT00440000038003
HOGENOMiHOG000111363
HOVERGENiHBG081008
InParanoidiQ9Y2M2
OMAiSSKCCYG
OrthoDBiEOG091G0K6A
PhylomeDBiQ9Y2M2
TreeFamiTF320855

Family and domain databases

InterProiView protein in InterPro
IPR033271 SSUH2
PANTHERiPTHR15852:SF7 PTHR15852:SF7, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2M2-1) [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
MPSPVGLLRA LPLPWPQFLA CTLRRLAGPR ESTGPSQKPP PLCSVPCRVP
60 70 80 90 100
AMTEEVAREA LLSFVDSKCC YSSTVAGDLV IQELKRQTLC RYRLETFSES
110 120 130 140 150
RISEWTFQPF TNHSVDGPQR GASPRLWDIK VQGPPMFQED TRKFQVPHSS
160 170 180 190 200
LVKECHKCHG RGRYKCSGCH GAGTVRCPSC CGAKRKAKQS RRCQLCAGSG
210 220 230 240 250
RRRCSTCSGR GNKTCATCKG EKKLLHFIQL VIMWKNSLFE FVSEHRLNCP
260 270 280 290 300
RELLAKAKGE NLFKDENSVV YPIVDFPLRD ISLASQRGIA EHSAALASRA
310 320 330 340 350
RVLQQRQTIE LIPLTEVHYW YQGKTYVYYI YGTDHQVYAV DYPERYCCGC

TIV
Length:353
Mass (Da):39,845
Last modified:November 1, 1999 - v1
Checksum:iF6435E4541F4BBE3
GO
Isoform 2 (identifier: Q9Y2M2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: MPSPVGLLRA...KPPPLCSVPC → MDRDLNEDDS...QRSWPSFLEH

Note: No experimental confirmation available.
Show »
Length:375
Mass (Da):42,732
Checksum:iD5B84353A89786CC
GO

Sequence cautioni

The sequence AAH52614 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti221E → G in BAH13229 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03365929P → L. Corresponds to variant dbSNP:rs2276800Ensembl.1
Natural variantiVAR_078099118P → Q Probable disease-associated mutation found in patients with dentin dysplasia; decreased protein abundance; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs140981580Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0463551 – 47MPSPV…CSVPC → MDRDLNEDDSVVDLSFEAES PLAPPTELLERLPSYDWLLQ GGRGQIFFPPLEAPGRPQEQ RSWPSFLEH in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB024705 mRNA Translation: BAA76932.1
AK093066 mRNA Translation: BAG52646.1
AK300175 mRNA Translation: BAH13229.1
AC034187 Genomic DNA No translation available.
AC068312 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW63941.1
BC052614 mRNA Translation: AAH52614.1 Different initiation.
CCDSiCCDS2568.1 [Q9Y2M2-1]
CCDS58815.1 [Q9Y2M2-2]
PIRiT44500
RefSeqiNP_001243677.1, NM_001256748.1 [Q9Y2M2-2]
NP_001243678.1, NM_001256749.1
NP_057015.1, NM_015931.2 [Q9Y2M2-1]
XP_016862027.1, XM_017006538.1 [Q9Y2M2-1]
XP_016862028.1, XM_017006539.1 [Q9Y2M2-1]
XP_016862029.1, XM_017006540.1 [Q9Y2M2-1]
XP_016862030.1, XM_017006541.1 [Q9Y2M2-1]
XP_016862031.1, XM_017006542.1 [Q9Y2M2-1]
UniGeneiHs.736935
Hs.740735

Genome annotation databases

EnsembliENST00000317371; ENSP00000324551; ENSG00000125046 [Q9Y2M2-1]
ENST00000341795; ENSP00000339150; ENSG00000125046 [Q9Y2M2-1]
ENST00000544814; ENSP00000439378; ENSG00000125046 [Q9Y2M2-2]
GeneIDi51066
KEGGihsa:51066
UCSCiuc003bqu.5 human [Q9Y2M2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSSUH2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2M2
Secondary accession number(s): A6NFA9
, B3KS84, B7Z6E3, F5H2S5, Q7Z7K4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 1, 1999
Last modified: May 23, 2018
This is version 117 of the entry and version 1 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

Complete proteome, Reference proteome

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