Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Glycine amidinotransferase, mitochondrial

Gene

GATM

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

Functioni

Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.3 Publications

Catalytic activityi

L-arginine + glycine = L-ornithine + guanidinoacetate.2 Publications

Kineticsi

  1. KM=2.0 µM for arginine2 Publications
  2. KM=3.0 µM for glycine2 Publications
  1. Vmax=0.44 µmol/min/mg enzyme2 Publications

Pathwayi: creatine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes creatine from L-arginine and glycine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Glycine amidinotransferase, mitochondrial (GATM)
  2. Guanidinoacetate N-methyltransferase (GAMT), Guanidinoacetate N-methyltransferase (HEL-S-20)
This subpathway is part of the pathway creatine biosynthesis, which is itself part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes creatine from L-arginine and glycine, the pathway creatine biosynthesis and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei2541
Active sitei3031
Active sitei407Amidino-cysteine intermediate1 Publication1

GO - Molecular functioni

  • glycine amidinotransferase activity Source: UniProtKB

GO - Biological processi

  • creatine biosynthetic process Source: MGI
  • creatine metabolic process Source: CAFA
  • learning or memory Source: CAFA
  • multicellular organism development Source: CAFA
  • muscle atrophy Source: CAFA
  • positive regulation of cold-induced thermogenesis Source: YuBioLab

Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

BioCyciMetaCyc:HS10376-MONOMER
BRENDAi2.1.4.1 2681
ReactomeiR-HSA-71288 Creatine metabolism
UniPathwayi
UPA00104;UER00579

Names & Taxonomyi

Protein namesi
Recommended name:
Glycine amidinotransferase, mitochondrial (EC:2.1.4.12 Publications)
Alternative name(s):
L-arginine:glycine amidinotransferase
Transamidinase
Gene namesi
Name:GATM
Synonyms:AGAT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000171766.15
HGNCiHGNC:4175 GATM
MIMi602360 gene
neXtProtiNX_P50440

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, Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Cerebral creatine deficiency syndrome 3 (CCDS3)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life.
See also OMIM:612718
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07648323R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs370155767EnsemblClinVar.1
Natural variantiVAR_07648493I → V in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs34991226EnsemblClinVar.1
Natural variantiVAR_076485102K → N in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376335787EnsemblClinVar.1
Natural variantiVAR_076486105P → L in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs147804855EnsemblClinVar.1
Natural variantiVAR_076487181E → K in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376982466EnsemblClinVar.1
Natural variantiVAR_076488185A → P in CCDS3; decreases glycine amidinotransferase activity. 2 Publications1
Natural variantiVAR_076489189R → C in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs377578020EnsemblClinVar.1
Natural variantiVAR_069816203Y → S in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs397514709EnsemblClinVar.1
Natural variantiVAR_076490208A → T in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374059924EnsemblClinVar.1
Natural variantiVAR_076493282R → H in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs371447931EnsemblClinVar.1
Natural variantiVAR_076494329L → V in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs373802463EnsemblClinVar.1
Natural variantiVAR_076495346P → L in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs142814307EnsemblClinVar.1
Natural variantiVAR_071789413R → Q in CCDS3; loss of glycine amidinotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs1461653218Ensembl.1
Natural variantiVAR_071790413R → W in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs1244824806Ensembl.1
Natural variantiVAR_076496415R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374592247EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi170D → N: Complete loss of activity. 1 Publication1
Mutagenesisi233E → K: Complete loss of activity; when associated with S-407. 1 Publication1
Mutagenesisi254D → N: Significantly reduced activity. 1 Publication1
Mutagenesisi303H → V: Complete loss of activity. 1 Publication1
Mutagenesisi305D → A: Complete loss of activity. 1 Publication1
Mutagenesisi322R → E: Significantly reduced activity. 1 Publication1
Mutagenesisi355S → A: Significantly reduced activity. 1 Publication1
Mutagenesisi407C → S: Complete loss of activity; when associated with K-233. 1 Publication1
Mutagenesisi410C → A: No effect on activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2628
GeneReviewsiGATM
MalaCardsiGATM
MIMi612718 phenotype
OpenTargetsiENSG00000171766
Orphaneti35704 Arginine:glycine amidinotransferase deficiency
PharmGKBiPA28590

Chemistry databases

DrugBankiDB04454 Alpha-Aminobutyric Acid
DB02068 Delta-Amino Valeric Acid
DB02530 Gamma(Amino)-Butyric Acid
DB00145 Glycine
DB00129 L-Ornithine
DB04185 Norvaline

Polymorphism and mutation databases

BioMutaiGATM
DMDMi1730201

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 37MitochondrionBy similarityAdd BLAST37
ChainiPRO_000000120638 – 423Glycine amidinotransferase, mitochondrialAdd BLAST386

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei46PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei385N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP50440
PaxDbiP50440
PeptideAtlasiP50440
PRIDEiP50440
ProteomicsDBi56222
56223 [P50440-2]
56224 [P50440-3]

2D gel databases

REPRODUCTION-2DPAGEiIPI00032103

PTM databases

iPTMnetiP50440
PhosphoSitePlusiP50440

Expressioni

Tissue specificityi

Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.3 Publications

Inductioni

Expression is elevated in the myocardium during heart failure, and decreased in inter-uterine growth restriction (IUGR)-associated placenta.2 Publications

Gene expression databases

BgeeiENSG00000171766 Expressed in 231 organ(s), highest expression level in nephron tubule
CleanExiHS_GATM
ExpressionAtlasiP50440 baseline and differential
GenevisibleiP50440 HS

Organism-specific databases

HPAiHPA026077

Interactioni

Subunit structurei

Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of the monomer.1 Publication

Protein-protein interaction databases

BioGridi108898, 3 interactors
IntActiP50440, 7 interactors
STRINGi9606.ENSP00000379895

Structurei

Secondary structure

1423
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00099
ProteinModelPortaliP50440
SMRiP50440
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50440

Family & Domainsi

Domaini

One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site.

Sequence similaritiesi

Belongs to the amidinotransferase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IFBR Eukaryota
ENOG410Y45M LUCA
GeneTreeiENSGT00390000011613
HOGENOMiHOG000231593
HOVERGENiHBG002492
InParanoidiP50440
KOiK00613
OMAiRPCHQID
OrthoDBiEOG091G07LX
PhylomeDBiP50440
TreeFamiTF300256

Family and domain databases

InterProiView protein in InterPro
IPR033195 AmidinoTrfase
PANTHERiPTHR10488 PTHR10488, 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

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50440-1) [UniParc]FASTAAdd to basket
Also known as: Mitochondrial

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
MLRVRCLRGG SRGAEAVHYI GSRLGRTLTG WVQRTFQSTQ AATASSRNSC
60 70 80 90 100
AADDKATEPL PKDCPVSSYN EWDPLEEVIV GRAENACVPP FTIEVKANTY
110 120 130 140 150
EKYWPFYQKQ GGHYFPKDHL KKAVAEIEEM CNILKTEGVT VRRPDPIDWS
160 170 180 190 200
LKYKTPDFES TGLYSAMPRD ILIVVGNEII EAPMAWRSRF FEYRAYRSII
210 220 230 240 250
KDYFHRGAKW TTAPKPTMAD ELYNQDYPIH SVEDRHKLAA QGKFVTTEFE
260 270 280 290 300
PCFDAADFIR AGRDIFAQRS QVTNYLGIEW MRRHLAPDYR VHIISFKDPN
310 320 330 340 350
PMHIDATFNI IGPGIVLSNP DRPCHQIDLF KKAGWTIITP PTPIIPDDHP
360 370 380 390 400
LWMSSKWLSM NVLMLDEKRV MVDANEVPIQ KMFEKLGITT IKVNIRNANS
410 420
LGGGFHCWTC DVRRRGTLQS YLD
Length:423
Mass (Da):48,455
Last modified:October 1, 1996 - v1
Checksum:i5BEF7A8A039B70FB
GO
Isoform 2 (identifier: P50440-2) [UniParc]FASTAAdd to basket
Also known as: Cytoplasmic

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQ → MNILK

Show »
Length:391
Mass (Da):44,883
Checksum:iDA7E75BB41D91528
GO
Isoform 3 (identifier: P50440-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     388-423: ITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD → MYNK

Show »
Length:391
Mass (Da):44,943
Checksum:i692D75D4BCD1B990
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YMX4H0YMX4_HUMAN
Glycine amidinotransferase, mitocho...
GATM
167Annotation score:
H0YKW9H0YKW9_HUMAN
Glycine amidinotransferase, mitocho...
GATM
96Annotation score:
H0YLC6H0YLC6_HUMAN
Glycine amidinotransferase, mitocho...
GATM
32Annotation score:
H0YN43H0YN43_HUMAN
Glycine amidinotransferase, mitocho...
GATM
31Annotation score:
H0YL75H0YL75_HUMAN
Glycine amidinotransferase, mitocho...
GATM
15Annotation score:

Sequence cautioni

The sequence BAG60595 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti98N → I in BAG60595 (PubMed:14702039).Curated1
Sequence conflicti246T → I in BAG60595 (PubMed:14702039).Curated1
Sequence conflicti384E → G in BAG58060 (PubMed:14702039).Curated1
Sequence conflicti395I → V in BAG60595 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07648323R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs370155767EnsemblClinVar.1
Natural variantiVAR_07648493I → V in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs34991226EnsemblClinVar.1
Natural variantiVAR_076485102K → N in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376335787EnsemblClinVar.1
Natural variantiVAR_076486105P → L in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs147804855EnsemblClinVar.1
Natural variantiVAR_020305110Q → H1 PublicationCorresponds to variant dbSNP:rs1288775EnsemblClinVar.1
Natural variantiVAR_076487181E → K in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs376982466EnsemblClinVar.1
Natural variantiVAR_076488185A → P in CCDS3; decreases glycine amidinotransferase activity. 2 Publications1
Natural variantiVAR_076489189R → C in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs377578020EnsemblClinVar.1
Natural variantiVAR_069816203Y → S in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs397514709EnsemblClinVar.1
Natural variantiVAR_076490208A → T in CCDS3; loss of glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374059924EnsemblClinVar.1
Natural variantiVAR_076491231S → C Decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs202225656EnsemblClinVar.1
Natural variantiVAR_076492234D → G Decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs146057680EnsemblClinVar.1
Natural variantiVAR_076493282R → H in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs371447931EnsemblClinVar.1
Natural variantiVAR_076494329L → V in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs373802463EnsemblClinVar.1
Natural variantiVAR_076495346P → L in CCDS3; decreases glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs142814307EnsemblClinVar.1
Natural variantiVAR_071789413R → Q in CCDS3; loss of glycine amidinotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs1461653218Ensembl.1
Natural variantiVAR_071790413R → W in CCDS3; loss of glycine amidinotransferase activity. 3 PublicationsCorresponds to variant dbSNP:rs1244824806Ensembl.1
Natural variantiVAR_076496415R → Q in CCDS3; unknown pathological significance; reduces glycine amidinotransferase activity. 1 PublicationCorresponds to variant dbSNP:rs374592247EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0002351 – 37MLRVR…QRTFQ → MNILK in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_039871388 – 423ITTIK…QSYLD → MYNK in isoform 3. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S68805 mRNA Translation: AAB29892.1
X86401 mRNA Translation: CAA60153.1
AK294995 mRNA Translation: BAG58060.1
AK298350 mRNA Translation: BAG60595.1 Different initiation.
AK223585 mRNA Translation: BAD97305.1
AC025580 Genomic DNA No translation available.
BC004141 mRNA Translation: AAH04141.1
CCDSiCCDS10122.1 [P50440-1]
PIRiS41734
S54161
RefSeqiNP_001473.1, NM_001482.2 [P50440-1]
UniGeneiHs.560354
Hs.729565
Hs.75335

Genome annotation databases

EnsembliENST00000396659; ENSP00000379895; ENSG00000171766 [P50440-1]
ENST00000558336; ENSP00000454008; ENSG00000171766 [P50440-3]
GeneIDi2628
KEGGihsa:2628
UCSCiuc001zvc.4 human [P50440-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S68805 mRNA Translation: AAB29892.1
X86401 mRNA Translation: CAA60153.1
AK294995 mRNA Translation: BAG58060.1
AK298350 mRNA Translation: BAG60595.1 Different initiation.
AK223585 mRNA Translation: BAD97305.1
AC025580 Genomic DNA No translation available.
BC004141 mRNA Translation: AAH04141.1
CCDSiCCDS10122.1 [P50440-1]
PIRiS41734
S54161
RefSeqiNP_001473.1, NM_001482.2 [P50440-1]
UniGeneiHs.560354
Hs.729565
Hs.75335

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JDWX-ray1.90A1-423[»]
1JDXX-ray2.40A38-423[»]
2JDWX-ray2.10A1-423[»]
2JDXX-ray2.90A38-423[»]
3JDWX-ray2.40A1-423[»]
4JDWX-ray2.50A1-423[»]
5JDWX-ray2.60A38-423[»]
6JDWX-ray2.50A38-423[»]
7JDWX-ray2.37A38-423[»]
8JDWX-ray2.30A38-423[»]
9JDWX-ray2.50A38-423[»]
DisProtiDP00099
ProteinModelPortaliP50440
SMRiP50440
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108898, 3 interactors
IntActiP50440, 7 interactors
STRINGi9606.ENSP00000379895

Chemistry databases

DrugBankiDB04454 Alpha-Aminobutyric Acid
DB02068 Delta-Amino Valeric Acid
DB02530 Gamma(Amino)-Butyric Acid
DB00145 Glycine
DB00129 L-Ornithine
DB04185 Norvaline

PTM databases

iPTMnetiP50440
PhosphoSitePlusiP50440

Polymorphism and mutation databases

BioMutaiGATM
DMDMi1730201

2D gel databases

REPRODUCTION-2DPAGEiIPI00032103

Proteomic databases

MaxQBiP50440
PaxDbiP50440
PeptideAtlasiP50440
PRIDEiP50440
ProteomicsDBi56222
56223 [P50440-2]
56224 [P50440-3]

Protocols and materials databases

DNASUi2628
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396659; ENSP00000379895; ENSG00000171766 [P50440-1]
ENST00000558336; ENSP00000454008; ENSG00000171766 [P50440-3]
GeneIDi2628
KEGGihsa:2628
UCSCiuc001zvc.4 human [P50440-1]

Organism-specific databases

CTDi2628
DisGeNETi2628
EuPathDBiHostDB:ENSG00000171766.15
GeneCardsiGATM
GeneReviewsiGATM
HGNCiHGNC:4175 GATM
HPAiHPA026077
MalaCardsiGATM
MIMi602360 gene
612718 phenotype
neXtProtiNX_P50440
OpenTargetsiENSG00000171766
Orphaneti35704 Arginine:glycine amidinotransferase deficiency
PharmGKBiPA28590
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFBR Eukaryota
ENOG410Y45M LUCA
GeneTreeiENSGT00390000011613
HOGENOMiHOG000231593
HOVERGENiHBG002492
InParanoidiP50440
KOiK00613
OMAiRPCHQID
OrthoDBiEOG091G07LX
PhylomeDBiP50440
TreeFamiTF300256

Enzyme and pathway databases

UniPathwayi
UPA00104;UER00579

BioCyciMetaCyc:HS10376-MONOMER
BRENDAi2.1.4.1 2681
ReactomeiR-HSA-71288 Creatine metabolism

Miscellaneous databases

ChiTaRSiGATM human
EvolutionaryTraceiP50440
GeneWikiiGATM_(gene)
GenomeRNAii2628
PROiPR:P50440
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171766 Expressed in 231 organ(s), highest expression level in nephron tubule
CleanExiHS_GATM
ExpressionAtlasiP50440 baseline and differential
GenevisibleiP50440 HS

Family and domain databases

InterProiView protein in InterPro
IPR033195 AmidinoTrfase
PANTHERiPTHR10488 PTHR10488, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGATM_HUMAN
AccessioniPrimary (citable) accession number: P50440
Secondary accession number(s): B4DH99, B4DPI3, Q53EQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 10, 2018
This is version 185 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again