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Protein

Endoplasmic reticulum protein SC65

Gene

P3H4

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

Functioni

Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linking of collagen fibrils. Required for normal bone density and normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly.By similarity

Caution

Was originally identified in the nucleolus (PubMed:8862517). A recent publication found it only in the endoplasmic reticulum, which agrees with its biological function and the predicted signal sequence (PubMed:23959653).2 Publications

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Endoplasmic reticulum protein SC651 Publication
Alternative name(s):
Leprecan-like protein 4
Nucleolar autoantigen No552 Publications
Prolyl 3-hydroxylase family member 4Imported
Synaptonemal complex protein SC65By similarity
Gene namesi
Name:P3H4Imported
Synonyms:LEPREL4, NOL55, SC65By similarity
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141696.12
HGNCiHGNC:16946 P3H4
MIMi617419 gene
neXtProtiNX_Q92791

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

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi10609
OpenTargetsiENSG00000141696

Polymorphism and mutation databases

BioMutaiLEPREL4
DMDMi3183090

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000015036719 – 437Endoplasmic reticulum protein SC65Sequence analysisAdd BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi361N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ92791
MaxQBiQ92791
PaxDbiQ92791
PeptideAtlasiQ92791
PRIDEiQ92791
ProteomicsDBi75471

PTM databases

GlyConnecti1782
iPTMnetiQ92791
PhosphoSitePlusiQ92791

Expressioni

Tissue specificityi

Detected in fibroblasts (at protein level) (PubMed:23959653). Detected in spleen, prostate, testis, ovary, colon, pancreas, kidney, placenta and heart (PubMed:10952778).2 Publications

Gene expression databases

BgeeiENSG00000141696 Expressed in 188 organ(s), highest expression level in endometrium
ExpressionAtlasiQ92791 baseline and differential
GenevisibleiQ92791 HS

Interactioni

Subunit structurei

Interacts with PLOD1, P3H3 and PPIB. Identified in a complex with PLOD1 and P3H3.By similarity

Protein-protein interaction databases

BioGridi115855, 27 interactors
IntActiQ92791, 2 interactors

Structurei

3D structure databases

ProteinModelPortaliQ92791
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi346 – 437Asp/Glu-rich (acidic)CuratedAdd BLAST92

Sequence similaritiesi

Belongs to the leprecan family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG4459 Eukaryota
ENOG410XPXF LUCA
GeneTreeiENSGT00550000074573
HOGENOMiHOG000247068
HOVERGENiHBG005540
InParanoidiQ92791
KOiK22461
OMAiYYRFYRE
OrthoDBiEOG091G06WO
PhylomeDBiQ92791
TreeFamiTF320837

Family and domain databases

InterProiView protein in InterPro
IPR033213 SC65
PANTHERiPTHR13986:SF4 PTHR13986:SF4, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q92791-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARVAWGLLW LLLGSAGAQY EKYSFRGFPP EDLMPLAAAY GHALEQYEGE
60 70 80 90 100
SWRESARYLE AALRLHRLLR DSEAFCHANC SGPAPAAKPD PDGGRADEWA
110 120 130 140 150
CELRLFGRVL ERAACLRRCK RTLPAFQVPY PPRQLLRDFQ SRLPYQYLHY
160 170 180 190 200
ALFKANRLEK AVAAAYTFLQ RNPKHELTAK YLNYYQGMLD VADESLTDLE
210 220 230 240 250
AQPYEAVFLR AVKLYNSGDF RSSTEDMERA LSEYLAVFAR CLAGCEGAHE
260 270 280 290 300
QVDFKDFYPA IADLFAESLQ CKVDCEANLT PNVGGYFVDK FVATMYHYLQ
310 320 330 340 350
FAYYKLNDVR QAARSAASYM LFDPKDSVMQ QNLVYYRFHR ARWGLEEEDF
360 370 380 390 400
QPREEAMLYH NQTAELRELL EFTHMYLQSD DEMELEETEP PLEPEDALSD
410 420 430
AEFEGEGDYE EGMYADWWQE PDAKGDEAEA EPEPELA
Length:437
Mass (Da):50,381
Last modified:February 1, 1997 - v1
Checksum:i50C82FCE9BB7274A
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJ03K7EJ03_HUMAN
Endoplasmic reticulum protein SC65
P3H4
85Annotation score:
K7ERA3K7ERA3_HUMAN
Endoplasmic reticulum protein SC65
P3H4
221Annotation score:
H0YED7H0YED7_HUMAN
Endoplasmic reticulum protein SC65
P3H4
73Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020417186Q → R2 PublicationsCorresponds to variant dbSNP:rs13412Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47621 mRNA Translation: AAC51792.1
AJ250583 mRNA Translation: CAC16786.1
AK222945 mRNA Translation: BAD96665.1
BC001047 mRNA Translation: AAH01047.1
BC007942 mRNA Translation: AAH07942.1
BC011701 mRNA Translation: AAH11701.1
CCDSiCCDS11408.1
RefSeqiNP_006446.1, NM_006455.2
UniGeneiHs.446459

Genome annotation databases

EnsembliENST00000355468; ENSP00000347649; ENSG00000141696
ENST00000393928; ENSP00000377505; ENSG00000141696
GeneIDi10609
KEGGihsa:10609
UCSCiuc002hxt.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47621 mRNA Translation: AAC51792.1
AJ250583 mRNA Translation: CAC16786.1
AK222945 mRNA Translation: BAD96665.1
BC001047 mRNA Translation: AAH01047.1
BC007942 mRNA Translation: AAH07942.1
BC011701 mRNA Translation: AAH11701.1
CCDSiCCDS11408.1
RefSeqiNP_006446.1, NM_006455.2
UniGeneiHs.446459

3D structure databases

ProteinModelPortaliQ92791
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115855, 27 interactors
IntActiQ92791, 2 interactors

PTM databases

GlyConnecti1782
iPTMnetiQ92791
PhosphoSitePlusiQ92791

Polymorphism and mutation databases

BioMutaiLEPREL4
DMDMi3183090

Proteomic databases

EPDiQ92791
MaxQBiQ92791
PaxDbiQ92791
PeptideAtlasiQ92791
PRIDEiQ92791
ProteomicsDBi75471

Protocols and materials databases

DNASUi10609
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355468; ENSP00000347649; ENSG00000141696
ENST00000393928; ENSP00000377505; ENSG00000141696
GeneIDi10609
KEGGihsa:10609
UCSCiuc002hxt.4 human

Organism-specific databases

CTDi10609
DisGeNETi10609
EuPathDBiHostDB:ENSG00000141696.12
GeneCardsiP3H4
HGNCiHGNC:16946 P3H4
MIMi617419 gene
neXtProtiNX_Q92791
OpenTargetsiENSG00000141696
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4459 Eukaryota
ENOG410XPXF LUCA
GeneTreeiENSGT00550000074573
HOGENOMiHOG000247068
HOVERGENiHBG005540
InParanoidiQ92791
KOiK22461
OMAiYYRFYRE
OrthoDBiEOG091G06WO
PhylomeDBiQ92791
TreeFamiTF320837

Miscellaneous databases

ChiTaRSiP3H4 human
GeneWikiiSC65
GenomeRNAii10609
PROiPR:Q92791
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141696 Expressed in 188 organ(s), highest expression level in endometrium
ExpressionAtlasiQ92791 baseline and differential
GenevisibleiQ92791 HS

Family and domain databases

InterProiView protein in InterPro
IPR033213 SC65
PANTHERiPTHR13986:SF4 PTHR13986:SF4, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSC65_HUMAN
AccessioniPrimary (citable) accession number: Q92791
Secondary accession number(s): Q53GI6, Q9H4F6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 1, 1997
Last modified: November 7, 2018
This is version 146 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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