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Protein

Endoplasmic reticulum protein SC65

Gene

P3H4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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.

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.

PTM databases

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.
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. 26 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.
OMAiFTHMYLQ.
OrthoDBiEOG091G06WO.
PhylomeDBiQ92791.
TreeFamiTF320837.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiView protein in InterPro
IPR033213. SC65.
IPR011990. TPR-like_helical_dom_sf.
PANTHERiPTHR13986:SF4. PTHR13986:SF4. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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

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

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 22, 2017
This is version 139 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

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

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families