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Protein

Prolyl 4-hydroxylase subunit alpha-1

Gene

P4HA1

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

Functioni

Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins.

Catalytic activityi

L-proline-[procollagen] + 2-oxoglutarate + O2 = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO2.

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi429IronPROSITE-ProRule annotation1
Metal bindingi431IronPROSITE-ProRule annotation1
Metal bindingi500IronPROSITE-ProRule annotation1
Binding sitei5102-oxoglutaratePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

  • collagen fibril organization Source: Ensembl
  • peptidyl-proline hydroxylation to 4-hydroxy-L-proline Source: GO_Central

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
LigandIron, Metal-binding, Vitamin C

Enzyme and pathway databases

BioCyciMetaCyc:HS04613-MONOMER
BRENDAi1.14.11.2 2681
ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes

Names & Taxonomyi

Protein namesi
Recommended name:
Prolyl 4-hydroxylase subunit alpha-1 (EC:1.14.11.2)
Short name:
4-PH alpha-1
Alternative name(s):
Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1
Gene namesi
Name:P4HA1
Synonyms:P4HA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000122884.12
HGNCiHGNC:8546 P4HA1
MIMi176710 gene
neXtProtiNX_P13674

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi210Y → A: Strongly reduced affinity for peptide substrate. 1 Publication1
Mutagenesisi213Y → A: Strongly reduced affinity for peptide substrate. 1 Publication1
Mutagenesisi247Y → A: Strongly reduced affinity for peptide substrate. 1 Publication1

Organism-specific databases

DisGeNETi5033
MalaCardsiP4HA1
OpenTargetsiENSG00000122884
Orphaneti2953 Ehlers-Danlos syndrome, musculocontractural type
PharmGKBiPA32874

Chemistry databases

ChEMBLiCHEMBL1250350
DrugBankiDB01275 Hydralazine
DB00172 L-Proline
DB00139 Succinic acid
DB00126 Vitamin C

Polymorphism and mutation databases

BioMutaiP4HA1
DMDMi2507090

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 17Combined sourcesAdd BLAST17
ChainiPRO_000002272318 – 534Prolyl 4-hydroxylase subunit alpha-1Add BLAST517

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi113N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi259N-linked (GlcNAc...) asparagine1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP13674
MaxQBiP13674
PaxDbiP13674
PeptideAtlasiP13674
PRIDEiP13674
ProteomicsDBi52957
52958 [P13674-2]

PTM databases

GlyConnecti1640
iPTMnetiP13674
PhosphoSitePlusiP13674
SwissPalmiP13674

Expressioni

Gene expression databases

BgeeiENSG00000122884 Expressed in 228 organ(s), highest expression level in cartilage tissue
CleanExiHS_P4HA1
ExpressionAtlasiP13674 baseline and differential
GenevisibleiP13674 HS

Organism-specific databases

HPAiHPA007599
HPA026593

Interactioni

Subunit structurei

Heterotetramer of two alpha-1 chains and two beta chains (the beta chain is the multi-functional PDI).1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111072, 44 interactors
CORUMiP13674
DIPiDIP-38180N
IntActiP13674, 53 interactors
MINTiP13674
STRINGi9606.ENSP00000263556

Chemistry databases

BindingDBiP13674

Structurei

Secondary structure

1534
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP13674
SMRiP13674
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13674

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati205 – 238TPRAdd BLAST34
Domaini411 – 519Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST109

Sequence similaritiesi

Belongs to the P4HA family.Curated

Keywords - Domaini

Signal, TPR repeat

Phylogenomic databases

eggNOGiKOG1591 Eukaryota
ENOG410XS5J LUCA
GeneTreeiENSGT00390000018885
HOGENOMiHOG000230465
HOVERGENiHBG006834
InParanoidiP13674
KOiK00472
OMAiDRPYIVR
PhylomeDBiP13674
TreeFamiTF313393

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR005123 Oxoglu/Fe-dep_dioxygenase
IPR006620 Pro_4_hyd_alph
IPR013547 Pro_4_hyd_alph_N
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13640 2OG-FeII_Oxy_3, 1 hit
PF08336 P4Ha_N, 1 hit
SMARTiView protein in SMART
SM00702 P4Hc, 1 hit
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS51471 FE2OG_OXY, 1 hit
PS50005 TPR, 1 hit
PS50293 TPR_REGION, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P13674-1) [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
MIWYILIIGI LLPQSLAHPG FFTSIGQMTD LIHTEKDLVT SLKDYIKAEE
60 70 80 90 100
DKLEQIKKWA EKLDRLTSTA TKDPEGFVGH PVNAFKLMKR LNTEWSELEN
110 120 130 140 150
LVLKDMSDGF ISNLTIQRQY FPNDEDQVGA AKALLRLQDT YNLDTDTISK
160 170 180 190 200
GNLPGVKHKS FLTAEDCFEL GKVAYTEADY YHTELWMEQA LRQLDEGEIS
210 220 230 240 250
TIDKVSVLDY LSYAVYQQGD LDKALLLTKK LLELDPEHQR ANGNLKYFEY
260 270 280 290 300
IMAKEKDVNK SASDDQSDQK TTPKKKGVAV DYLPERQKYE MLCRGEGIKM
310 320 330 340 350
TPRRQKKLFC RYHDGNRNPK FILAPAKQED EWDKPRIIRF HDIISDAEIE
360 370 380 390 400
IVKDLAKPRL RRATISNPIT GDLETVHYRI SKSAWLSGYE NPVVSRINMR
410 420 430 440 450
IQDLTGLDVS TAEELQVANY GVGGQYEPHF DFARKDEPDA FKELGTGNRI
460 470 480 490 500
ATWLFYMSDV SAGGATVFPE VGASVWPKKG TAVFWYNLFA SGEGDYSTRH
510 520 530
AACPVLVGNK WVSNKWLHER GQEFRRPCTL SELE
Length:534
Mass (Da):61,049
Last modified:November 1, 1997 - v2
Checksum:iEBAFA8CCF09A1DDB
GO
Isoform 2 (identifier: P13674-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     361-380: RRATISNPITGDLETVHYRI → SRATVHDPETGKLTTAQYRV

Show »
Length:534
Mass (Da):60,967
Checksum:i5FE1B10A8AC5E792
GO
Isoform 3 (identifier: P13674-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     361-380: RRATISNPITGDLETVHYRI → SRATVHDPETGKLTTAQYRV
     417-434: Missing.

Note: No experimental confirmation available.
Show »
Length:516
Mass (Da):58,958
Checksum:iED30BECCFB48CD7E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti119 – 122QYFP → PVLS in AAA36534 (PubMed:2543975).Curated4
Sequence conflicti119 – 122QYFP → PVLS in AAA36535 (PubMed:2543975).Curated4

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004504361 – 380RRATI…VHYRI → SRATVHDPETGKLTTAQYRV in isoform 2 and isoform 3. 2 PublicationsAdd BLAST20
Alternative sequenceiVSP_044578417 – 434Missing in isoform 3. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M24486 mRNA Translation: AAA36534.1
M24487 mRNA Translation: AAA36535.1
U14620
, U14607, U14605, U14608, U14609, U14611, U14610, U14612, U14614, U14615, U14616, U14617, U14618, U14619 Genomic DNA Translation: AAA59068.1
U14620
, U14607, U14605, U14608, U14609, U14611, U14610, U14612, U14613, U14615, U14616, U14617, U14618, U14619 Genomic DNA Translation: AAA59069.1
CD013929 Genomic DNA No translation available.
AL731563 Genomic DNA No translation available.
BC034998 mRNA Translation: AAH34998.1
CCDSiCCDS41537.1 [P13674-1]
CCDS44432.1 [P13674-3]
CCDS7320.1 [P13674-2]
PIRiA33919 DAHUA1
I37173 DAHUA2
RefSeqiNP_000908.2, NM_000917.3 [P13674-2]
NP_001017962.1, NM_001017962.2 [P13674-1]
NP_001136067.1, NM_001142595.1 [P13674-1]
NP_001136068.1, NM_001142596.1 [P13674-3]
UniGeneiHs.500047
Hs.593005

Genome annotation databases

EnsembliENST00000263556; ENSP00000263556; ENSG00000122884 [P13674-2]
ENST00000307116; ENSP00000307318; ENSG00000122884 [P13674-1]
ENST00000373008; ENSP00000362099; ENSG00000122884 [P13674-2]
ENST00000394890; ENSP00000378353; ENSG00000122884 [P13674-1]
ENST00000440381; ENSP00000414464; ENSG00000122884 [P13674-3]
GeneIDi5033
KEGGihsa:5033
UCSCiuc001jtg.4 human [P13674-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M24486 mRNA Translation: AAA36534.1
M24487 mRNA Translation: AAA36535.1
U14620
, U14607, U14605, U14608, U14609, U14611, U14610, U14612, U14614, U14615, U14616, U14617, U14618, U14619 Genomic DNA Translation: AAA59068.1
U14620
, U14607, U14605, U14608, U14609, U14611, U14610, U14612, U14613, U14615, U14616, U14617, U14618, U14619 Genomic DNA Translation: AAA59069.1
CD013929 Genomic DNA No translation available.
AL731563 Genomic DNA No translation available.
BC034998 mRNA Translation: AAH34998.1
CCDSiCCDS41537.1 [P13674-1]
CCDS44432.1 [P13674-3]
CCDS7320.1 [P13674-2]
PIRiA33919 DAHUA1
I37173 DAHUA2
RefSeqiNP_000908.2, NM_000917.3 [P13674-2]
NP_001017962.1, NM_001017962.2 [P13674-1]
NP_001136067.1, NM_001142595.1 [P13674-1]
NP_001136068.1, NM_001142596.1 [P13674-3]
UniGeneiHs.500047
Hs.593005

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1TJCX-ray2.30A/B161-261[»]
2V5FX-ray2.03A161-263[»]
2YQ8X-ray2.99A/B18-255[»]
4BT8X-ray2.20A/B18-255[»]
4BT9X-ray1.90A/B18-255[»]
4BTAX-ray2.95A/B18-261[»]
4BTBX-ray1.90A18-255[»]
ProteinModelPortaliP13674
SMRiP13674
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111072, 44 interactors
CORUMiP13674
DIPiDIP-38180N
IntActiP13674, 53 interactors
MINTiP13674
STRINGi9606.ENSP00000263556

Chemistry databases

BindingDBiP13674
ChEMBLiCHEMBL1250350
DrugBankiDB01275 Hydralazine
DB00172 L-Proline
DB00139 Succinic acid
DB00126 Vitamin C

PTM databases

GlyConnecti1640
iPTMnetiP13674
PhosphoSitePlusiP13674
SwissPalmiP13674

Polymorphism and mutation databases

BioMutaiP4HA1
DMDMi2507090

Proteomic databases

EPDiP13674
MaxQBiP13674
PaxDbiP13674
PeptideAtlasiP13674
PRIDEiP13674
ProteomicsDBi52957
52958 [P13674-2]

Protocols and materials databases

DNASUi5033
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263556; ENSP00000263556; ENSG00000122884 [P13674-2]
ENST00000307116; ENSP00000307318; ENSG00000122884 [P13674-1]
ENST00000373008; ENSP00000362099; ENSG00000122884 [P13674-2]
ENST00000394890; ENSP00000378353; ENSG00000122884 [P13674-1]
ENST00000440381; ENSP00000414464; ENSG00000122884 [P13674-3]
GeneIDi5033
KEGGihsa:5033
UCSCiuc001jtg.4 human [P13674-1]

Organism-specific databases

CTDi5033
DisGeNETi5033
EuPathDBiHostDB:ENSG00000122884.12
GeneCardsiP4HA1
HGNCiHGNC:8546 P4HA1
HPAiHPA007599
HPA026593
MalaCardsiP4HA1
MIMi176710 gene
neXtProtiNX_P13674
OpenTargetsiENSG00000122884
Orphaneti2953 Ehlers-Danlos syndrome, musculocontractural type
PharmGKBiPA32874
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1591 Eukaryota
ENOG410XS5J LUCA
GeneTreeiENSGT00390000018885
HOGENOMiHOG000230465
HOVERGENiHBG006834
InParanoidiP13674
KOiK00472
OMAiDRPYIVR
PhylomeDBiP13674
TreeFamiTF313393

Enzyme and pathway databases

BioCyciMetaCyc:HS04613-MONOMER
BRENDAi1.14.11.2 2681
ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes

Miscellaneous databases

ChiTaRSiP4HA1 human
EvolutionaryTraceiP13674
GeneWikiiP4HA1
GenomeRNAii5033
PROiPR:P13674
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122884 Expressed in 228 organ(s), highest expression level in cartilage tissue
CleanExiHS_P4HA1
ExpressionAtlasiP13674 baseline and differential
GenevisibleiP13674 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR005123 Oxoglu/Fe-dep_dioxygenase
IPR006620 Pro_4_hyd_alph
IPR013547 Pro_4_hyd_alph_N
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13640 2OG-FeII_Oxy_3, 1 hit
PF08336 P4Ha_N, 1 hit
SMARTiView protein in SMART
SM00702 P4Hc, 1 hit
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS51471 FE2OG_OXY, 1 hit
PS50005 TPR, 1 hit
PS50293 TPR_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiP4HA1_HUMAN
AccessioniPrimary (citable) accession number: P13674
Secondary accession number(s): C9JL12
, Q15082, Q15083, Q5VSQ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: November 1, 1997
Last modified: November 7, 2018
This is version 204 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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