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O14617 (AP3D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AP-3 complex subunit delta-1
Alternative name(s):
AP-3 complex subunit delta
Adapter-related protein complex 3 subunit delta-1
Delta-adaptin
Gene names
Name:AP3D1
ORF Names:PRO0039
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1153 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

Subunit structure

AP-3 associates with the BLOC-1 complex By similarity. Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).

Subcellular location

Cytoplasm By similarity. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side By similarity.

Tissue specificity

Present in all adult tissues examined with the highest levels in skeletal muscle, heart, pancreas and testis. Ref.2

Sequence similarities

Belongs to the adaptor complexes large subunit family.

Contains 11 HEAT repeats.

Sequence caution

The sequence AAG35473.1 differs from that shown. Reason: Contaminating sequence. Presence of an unrelated sequence found on chromosome 7.

The sequence AAH10065.1 differs from that shown. Reason: Lack of 8 exons and truncation of 2 other exons in the C- terminus. Alternative splicing seems doubtful, since exon-intron junctions are not the consensus ones.

The sequence BAD92041.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processProtein transport
Transport
   Cellular componentCytoplasm
Golgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
   PTMAcetylation
Phosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterograde axon cargo transport

Inferred from sequence or structural similarity. Source: UniProtKB

anterograde synaptic vesicle transport

Inferred from sequence or structural similarity. Source: UniProtKB

antigen processing and presentation, exogenous lipid antigen via MHC class Ib

Inferred from electronic annotation. Source: Ensembl

eye pigment biosynthetic process

Traceable author statement Ref.1. Source: ProtInc

intracellular protein transport

Traceable author statement Ref.2. Source: ProtInc

positive regulation of NK T cell differentiation

Inferred from electronic annotation. Source: Ensembl

protein localization to organelle

Inferred from electronic annotation. Source: Ensembl

regulation of sequestering of zinc ion

Inferred from mutant phenotype PubMed 17349999. Source: BHF-UCL

synaptic vesicle membrane organization

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentGolgi apparatus

Traceable author statement Ref.2. Source: ProtInc

Golgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

endosome membrane

Inferred from direct assay PubMed 16162817. Source: UniProtKB

lysosomal membrane

Inferred from direct assay PubMed 17897319. Source: UniProtKB

membrane coat

Inferred from electronic annotation. Source: InterPro

terminal bouton

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionprotein transporter activity

Inferred from electronic annotation. Source: InterPro

transporter activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O14617-1)

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.
Isoform 2 (identifier: O14617-2)

The sequence of this isoform differs from the canonical sequence as follows:
     168-258: Missing.
     866-866: K → KKAEDLDFWLSTTPPPAPAPAPAPVPSTDECEDAKTEAQGEEDDAEGQDQD
Note: Contains a phosphoserine at position 828.
Isoform 3 (identifier: O14617-3)

The sequence of this isoform differs from the canonical sequence as follows:
     117-285: Missing.
Isoform 4 (identifier: O14617-4)

The sequence of this isoform differs from the canonical sequence as follows:
     746-877: Missing.
Isoform 5 (identifier: O14617-5)

The sequence of this isoform differs from the canonical sequence as follows:
     866-866: K → KKAEDLDFWLSTTPPPAPAPAPAPVPSTGELSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQD
Note: Contains a phosphoserine at position 931.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.13
Chain2 – 11531152AP-3 complex subunit delta-1
PRO_0000193766

Regions

Repeat34 – 7138HEAT 1
Repeat77 – 11438HEAT 2
Repeat142 – 17938HEAT 3
Repeat180 – 21637HEAT 4
Repeat254 – 29239HEAT 5
Repeat299 – 33638HEAT 6
Repeat338 – 37336HEAT 7
Repeat375 – 40935HEAT 8
Repeat431 – 46838HEAT 9
Repeat497 – 53539HEAT 10
Repeat548 – 58538HEAT 11
Coiled coil659 – 67921 Potential
Coiled coil725 – 75632 Potential
Coiled coil845 – 86925 Potential
Compositional bias828 – 89366Lys-rich

Amino acid modifications

Modified residue21N-acetylalanine Ref.13
Modified residue6321Phosphoserine Ref.7 Ref.10 Ref.12
Modified residue6341Phosphoserine Ref.7 Ref.10
Modified residue6361Phosphoserine Ref.7 Ref.10
Modified residue6581Phosphoserine Ref.7 Ref.12
Modified residue6881Phosphoserine Ref.9
Modified residue7581Phosphoserine Ref.9
Modified residue7591Phosphoserine Ref.9
Modified residue7621Phosphothreonine Ref.9
Modified residue7641Phosphoserine Ref.9
Modified residue7881Phosphoserine Ref.9 Ref.10
Modified residue8291Phosphoserine Ref.10

Natural variations

Alternative sequence117 – 285169Missing in isoform 3.
VSP_000167
Alternative sequence168 – 25891Missing in isoform 2.
VSP_000165
Alternative sequence746 – 877132Missing in isoform 4.
VSP_000168
Alternative sequence8661K → KKAEDLDFWLSTTPPPAPAP APAPVPSTDECEDAKTEAQG EEDDAEGQDQD in isoform 2.
VSP_000166
Alternative sequence8661K → KKAEDLDFWLSTTPPPAPAP APAPVPSTGELSVNTVTTPK DECEDAKTEAQGEEDDAEGQ DQD in isoform 5.
VSP_017106
Natural variant5411G → R.
Corresponds to variant rs34569645 [ dbSNP | Ensembl ].
VAR_033517
Natural variant10721I → V.
Corresponds to variant rs25673 [ dbSNP | Ensembl ].
VAR_033518

Experimental info

Sequence conflict31L → F in AAD03777. Ref.2
Sequence conflict1671Missing in AAC34214. Ref.4
Sequence conflict2521E → G in AAH10065. Ref.5
Sequence conflict595 – 6039EVSALFAGE → DFVHCCYEL in AAG35473. Ref.6

Secondary structure

..... 1153
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 1B491DD64EAD5096

FASTA1,153130,158
        10         20         30         40         50         60 
MALKMVKGSI DRMFDKNLQD LVRGIRNHKE DEAKYISQCI DEIKQELKQD NIAVKANAVC 

        70         80         90        100        110        120 
KLTYLQMLGY DISWAAFNII EVMSASKFTF KRIGYLAASQ SFHEGTDVIM LTTNQIRKDL 

       130        140        150        160        170        180 
SSPSQYDTGV ALTGLSCFVT PDLARDLAND IMTLMSHTKP YIRKKAVLIM YKVFLKYPES 

       190        200        210        220        230        240 
LRPAFPRLKE KLEDPDPGVQ SAAVNVICEL ARRNPKNYLS LAPLFFKLMT SSTNNWVLIK 

       250        260        270        280        290        300 
IIKLFGALTP LEPRLGKKLI EPLTNLIHST SAMSLLYECV NTVIAVLISL SSGMPNHSAS 

       310        320        330        340        350        360 
IQLCVQKLRI LIEDSDQNLK YLGLLAMSKI LKTHPKSVQS HKDLILQCLD DKDESIRLRA 

       370        380        390        400        410        420 
LDLLYGMVSK KNLMEIVKKL MTHVDKAEGT TYRDELLTKI IDICSQSNYQ YITNFEWYIS 

       430        440        450        460        470        480 
ILVELTRLEG TRHGHLIAAQ MLDVAIRVKA IRKFAVSQMS ALLDSAHLLA SSTQRNGICE 

       490        500        510        520        530        540 
VLYAAAWICG EFSEHLQEPH HTLEAMLRPR VTTLPGHIQA VYVQNVVKLY ASILQQKEQA 

       550        560        570        580        590        600 
GEAEGAQAVT QLMVDRLPQF VQSADLEVQE RASCILQLVK HIQKLQAKDV PVAEEVSALF 

       610        620        630        640        650        660 
AGELNPVAPK AQKKVPVPEG LDLDAWINEP LSDSESEDER PRAVFHEEEQ RRPKHRPSEA 

       670        680        690        700        710        720 
DEEELARRRE ARKQEQANNP FYIKSSPSPQ KRYQDTPGVE HIPVVQIDLS VPLKVPGLPM 

       730        740        750        760        770        780 
SDQYVKLEEE RRHRQKLEKD KRRKKRKEKE KKGKRRHSSL PTESDEDIAP AQQVDIVTEE 

       790        800        810        820        830        840 
MPENALPSDE DDKDPNDPYR ALDIDLDKPL ADSEKLPIQK HRNTETSKSP EKDVPMVEKK 

       850        860        870        880        890        900 
SKKPKKKEKK HKEKERDKEK KKEKEKKKSP KPKKKKHRKE KEERTKGKKK SKKQPPGSEE 

       910        920        930        940        950        960 
AAGEPVQNGA PEEEQLPPES SYSLLAENSY VKMTCDIRGS LQEDSQVTVA IVLENRSSSI 

       970        980        990       1000       1010       1020 
LKGMELSVLD SLNARMARPQ GSSVHDGVPV PFQLPPGVSN EAQYVFTIQS IVMAQKLKGT 

      1030       1040       1050       1060       1070       1080 
LSFIAKNDEG ATHEKLDFRL HFSCSSYLIT TPCYSDAFAK LLESGDLSMS SIKVDGIRMS 

      1090       1100       1110       1120       1130       1140 
FQNLLAKICF HHHFSVVERV DSCASMYSRS IQGHHVCLLV KKGENSVSVD GKCSDSTLLS 

      1150 
NLLEEMKATL AKC 

« Hide

Isoform 2 [UniParc].

Checksum: 33380E690D5AC35F
Show »

FASTA1,112125,040
Isoform 3 [UniParc].

Checksum: 8FA5C9ED9EF57A83
Show »

FASTA984111,238
Isoform 4 [UniParc].

Checksum: 730F9AD61CEF63DD
Show »

FASTA1,021114,707
Isoform 5 [UniParc].

Checksum: E77257F13AD4A67F
Show »

FASTA1,215136,651

References

« Hide 'large scale' references
[1]"Altered expression of a novel adaptin leads to defective pigment granule biogenesis in the Drosophila eye color mutant garnet."
Ooi C.E., Moreira J.E., Dell'Angelica E.C., Poy G., Wassarman D.A., Bonifacino J.S.
EMBO J. 16:4508-4518(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
Tissue: Fetal brain.
[2]"Characterization of the adaptor-related protein complex, AP-3."
Simpson F., Peden A.A., Christopoulou L., Robinson M.S.
J. Cell Biol. 137:835-845(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
Tissue: Heart.
[3]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
Tissue: Brain.
[4]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Muscle.
[6]"Functional prediction of the coding sequences of 75 new genes deduced by analysis of cDNA clones from human fetal liver."
Zhang C., Yu Y., Zhang S., Wei H., Bi J., Zhou G., Dong C., Zai Y., Xu W., Gao F., Liu M., He F.
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-603 (ISOFORM 1).
Tissue: Fetal liver.
[7]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632; SER-634; SER-636 AND SER-658, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-688; SER-758; SER-759; THR-762; SER-764 AND SER-788, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-828 (ISOFORM 2), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-931 (ISOFORM 5), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632; SER-634; SER-636; SER-788 AND SER-829, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-632 AND SER-658, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF002163 mRNA. Translation: AAC51761.1.
U91930 mRNA. Translation: AAD03777.1.
AB208804 mRNA. Translation: BAD92041.1. Different initiation.
AC005545 Genomic DNA. Translation: AAC34212.1.
AC005545 Genomic DNA. Translation: AAC34214.1.
BC010065 mRNA. Translation: AAH10065.1. Sequence problems.
AF130042 mRNA. Translation: AAG35473.1. Sequence problems.
RefSeqNP_001248755.1. NM_001261826.1.
NP_003929.4. NM_003938.6.
UniGeneHs.512815.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4AFIX-ray2.80A/B680-729[»]
ProteinModelPortalO14617.
SMRO14617. Positions 16-582, 696-729.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114455. 12 interactions.
DIPDIP-46793N.
IntActO14617. 6 interactions.
MINTMINT-5003757.
STRING9606.ENSP00000344055.

PTM databases

PhosphoSiteO14617.

Proteomic databases

PaxDbO14617.
PRIDEO14617.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000345016; ENSP00000344055; ENSG00000065000. [O14617-1]
ENST00000355272; ENSP00000347416; ENSG00000065000. [O14617-5]
GeneID8943.
KEGGhsa:8943.
UCSCuc002luz.4. human. [O14617-1]
uc002lva.4. human. [O14617-5]

Organism-specific databases

CTD8943.
GeneCardsGC19M002101.
H-InvDBHIX0014607.
HGNCHGNC:568. AP3D1.
HPAHPA047554.
MIM607246. gene.
neXtProtNX_O14617.
PharmGKBPA24859.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5096.
HOGENOMHOG000000981.
HOVERGENHBG050520.
KOK12396.
OMAKANAVCK.
OrthoDBEOG79SDWG.
PhylomeDBO14617.
TreeFamTF105666.

Gene expression databases

ArrayExpressO14617.
BgeeO14617.
CleanExHS_AP3D1.
GenevestigatorO14617.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
InterProIPR017105. AP3_complex_dsu.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR010474. BLV_receptor.
IPR002553. Clathrin/coatomer_adapt-like_N.
[Graphical view]
PfamPF01602. Adaptin_N. 1 hit.
PF06375. BLVR. 1 hit.
[Graphical view]
PIRSFPIRSF037092. AP3_complex_delta. 1 hit.
SUPFAMSSF48371. SSF48371. 1 hit.
ProtoNetSearch...

Other

ChiTaRSAP3D1. human.
GeneWikiAP3D1.
GenomeRNAi8943.
NextBio33636.
PROO14617.
SOURCESearch...

Entry information

Entry nameAP3D1_HUMAN
AccessionPrimary (citable) accession number: O14617
Secondary accession number(s): O00202 expand/collapse secondary AC list , O75262, Q59HF5, Q96G11, Q9H3C6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM