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Q9NR28 (DBLOH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Diablo homolog, mitochondrial
Alternative name(s):
Direct IAP-binding protein with low pI
Second mitochondria-derived activator of caspase
Short name=Smac
Gene names
Name:DIABLO
Synonyms:SMAC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length239 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity to down-regulate the XIAP/BIRC4 abundance. Ref.1 Ref.3 Ref.7

Subunit structure

Homodimer. Interacts with NGFRAP1/BEX3 By similarity. Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2, XIAP/BIRC4, BIRC6/bruce and BIRC7/livin. Interacts with the monomeric and dimeric form of BIRC5/survivin. Ref.7 Ref.8 Ref.10

Subcellular location

Mitochondrion. Note: Released into the cytosol when cells undergo apoptosis. Ref.3

Tissue specificity

Ubiquitously expressed with highest expression in testis. Expression is also high in heart, liver, kidney, spleen, prostate and ovary. Low in brain, lung, thymus and peripheral blood leukocytes. Isoform 3 is ubiquitously expressed. Ref.1 Ref.3

Domain

The mature N-terminus mediates interaction with XIAP/BIRC4.

Post-translational modification

Ubiquitinated by BIRC7/livin. Ref.8

Involvement in disease

Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Ontologies

Keywords
   Biological processApoptosis
   Cellular componentMitochondrion
   Coding sequence diversityAlternative splicing
   DiseaseDeafness
Disease mutation
Non-syndromic deafness
   DomainTransit peptide
   PTMUbl conjugation
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processactivation of cysteine-type endopeptidase activity involved in apoptotic process

Traceable author statement PubMed 18309324. Source: UniProtKB

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c

Traceable author statement Ref.1. Source: ProtInc

apoptotic process

Traceable author statement. Source: Reactome

extrinsic apoptotic signaling pathway via death domain receptors

Traceable author statement Ref.2. Source: ProtInc

intrinsic apoptotic signaling pathway

Traceable author statement PubMed 18309324. Source: UniProtKB

intrinsic apoptotic signaling pathway in response to oxidative stress

Inferred from electronic annotation. Source: Ensembl

neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of apoptotic process

Traceable author statement PubMed 18309324. Source: UniProtKB

   Cellular_componentCD40 receptor complex

Inferred from sequence or structural similarity. Source: BHF-UCL

cytoplasmic side of plasma membrane

Inferred from sequence or structural similarity. Source: BHF-UCL

cytosol

Traceable author statement. Source: Reactome

mitochondrial intermembrane space

Traceable author statement PubMed 18309324. Source: UniProtKB

mitochondrion

Inferred from direct assay. Source: HPA

   Molecular_functionprotein binding

Inferred from physical interaction Ref.7PubMed 15628841Ref.8PubMed 19153467Ref.10. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NR28-1)

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: Q9NR28-2)

Also known as: Diablo-S;

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIA → MKSDFYF
Isoform 3 (identifier: Q9NR28-3)

Also known as: SMAC3;

The sequence of this isoform differs from the canonical sequence as follows:
     62-105: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 5555Mitochondrion
Chain56 – 239184Diablo homolog, mitochondrial
PRO_0000021072

Regions

Motif56 – 605IAP-binding

Natural variations

Alternative sequence1 – 6060MAALK…AVPIA → MKSDFYF in isoform 2.
VSP_004397
Alternative sequence62 – 10544Missing in isoform 3.
VSP_042785
Natural variant1261S → L in DFNA64; does not increase apoptotic activity compared to wild-type; enhances the degradation of mutant and wild-type protein via heterodimerization; cells expressing the mutant protein show increased susceptibility to calcium-induced loss of mitochondrial potential compared to wild-type, indicating increased sensitivity to mitochondrial stress and suggestive of mitochondrial dysfunction. Ref.13
VAR_066487

Experimental info

Sequence conflict321K → E in BAB71568. Ref.4
Sequence conflict441K → R in BAB14994. Ref.4
Sequence conflict1651E → K in BAB71568. Ref.4

Secondary structure

.......... 239
Helix Strand Turn

Details...

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: 70C2AE0DC654D031

FASTA23927,131
        10         20         30         40         50         60 
MAALKSWLSR SVTSFFRYRQ CLCVPVVANF KKRCFSELIR PWHKTVTIGF GVTLCAVPIA 

        70         80         90        100        110        120 
QKSEPHSLSS EALMRRAVSL VTDSTSTFLS QTTYALIEAI TEYTKAVYTL TSLYRQYTSL 

       130        140        150        160        170        180 
LGKMNSEEED EVWQVIIGAR AEMTSKHQEY LKLETTWMTA VGLSEMAAEA AYQTGADQAS 

       190        200        210        220        230 
ITARNHIQLV KLQVEEVHQL SRKAETKLAE AQIEELRQKT QEEGEERAES EQEAYLRED 

« Hide

Isoform 2 (Diablo-S) [UniParc].

Checksum: FF567F7827AB6108
Show »

FASTA18621,233
Isoform 3 (SMAC3) [UniParc].

Checksum: B344087CF2A87C05
Show »

FASTA19522,284

References

« Hide 'large scale' references
[1]"Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition."
Du C., Fang M., Li Y., Li L., Wang X.
Cell 102:33-42(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, FUNCTION, TISSUE SPECIFICITY.
[2]"Molecular determinants of the caspase-promoting activity of Smac/DIABLO and its role in the death receptor pathway."
Srinivasula S.M., Datta P., Fan X.J., Fernandes-Alnemri T., Huang Z., Alnemri E.S.
J. Biol. Chem. 275:36152-36157(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), CHARACTERIZATION.
[3]"Smac3, a novel Smac/DIABLO splicing variant, attenuates the stability and apoptosis-inhibiting activity of X-linked inhibitor of apoptosis protein."
Fu J., Jin Y., Arend L.J.
J. Biol. Chem. 278:52660-52672(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Stomach.
[5]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 and Uterus.
[7]"Dual role of BRUCE as an antiapoptotic IAP and a chimeric E2/E3 ubiquitin ligase."
Bartke T., Pohl C., Pyrowolakis G., Jentsch S.
Mol. Cell 14:801-811(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH BIRC6/BRUCE.
[8]"Livin promotes Smac/DIABLO degradation by ubiquitin-proteasome pathway."
Ma L., Huang Y., Song Z., Feng S., Tian X., Du W., Qiu X., Heese K., Wu M.
Cell Death Differ. 13:2079-2088(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION BY BIRC7/LIVIN, INTERACTION WITH BIRC7/LIVIN.
[9]"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].
[10]"Survivin monomer plays an essential role in apoptosis regulation."
Pavlyukov M.S., Antipova N.V., Balashova M.V., Vinogradova T.V., Kopantzev E.P., Shakhparonov M.I.
J. Biol. Chem. 286:23296-23307(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BIRC5/SURVIVIN.
[11]"Structural and biochemical basis of apoptotic activation by Smac/DIABLO."
Chai J., Du C., Wu J.W., Kyin S., Wang X., Shi Y.
Nature 406:855-862(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 56-239.
[12]"Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain."
Liu Z., Sun C., Olejniczak E.T., Meadows R.P., Betz S.F., Oost T., Herrmann J., Wu J.C., Fesik S.W.
Nature 408:1004-1008(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 56-64 IN COMPLEX WITH XIAP.
[13]"Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64."
Cheng J., Zhu Y., He S., Lu Y., Chen J., Han B., Petrillo M., Wrzeszczynski K.O., Yang S., Dai P., Zhai S., Han D., Zhang M.Q., Li W., Liu X., Li H., Chen Z.Y., Yuan H.
Am. J. Hum. Genet. 89:56-66(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNA64 LEU-126, CHARACTERIZATION OF DFNA64 LEU-126.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF262240 mRNA. Translation: AAF87716.1.
AY313210 mRNA. Translation: AAQ86939.1.
AK024768 mRNA. Translation: BAB14994.1.
AK057778 mRNA. Translation: BAB71568.1.
AK315629 mRNA. Translation: BAG37997.1.
AF298770 mRNA. Translation: AAG22077.1.
AC048338 Genomic DNA. No translation available.
BC004417 mRNA. Translation: AAH04417.1.
BC011909 mRNA. Translation: AAH11909.1.
CCDSCCDS9228.1. [Q9NR28-1]
CCDS9229.1. [Q9NR28-3]
RefSeqNP_001265231.1. NM_001278302.1.
NP_001265232.1. NM_001278303.1.
NP_001265233.1. NM_001278304.1. [Q9NR28-2]
NP_001265271.1. NM_001278342.1. [Q9NR28-3]
NP_063940.1. NM_019887.5. [Q9NR28-1]
NP_620308.1. NM_138930.3. [Q9NR28-2]
UniGeneHs.169611.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1FEWX-ray2.20A56-239[»]
1G3FNMR-B56-64[»]
1G73X-ray2.00A/B56-217[»]
1OXQX-ray2.30F56-64[»]
1TW6X-ray1.71C/D56-64[»]
1XB0X-ray2.20G/H/I/J/K/L56-62[»]
1XB1X-ray2.70G/H/I/J/K/L56-62[»]
3D9UX-ray2.30B56-61[»]
3UIHX-ray2.40P/Q56-70[»]
3UIJX-ray2.70P/Q56-70[»]
ProteinModelPortalQ9NR28.
SMRQ9NR28. Positions 67-239.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121157. 38 interactions.
DIPDIP-27627N.
IntActQ9NR28. 20 interactions.
MINTMINT-141675.
STRING9606.ENSP00000267169.

PTM databases

PhosphoSiteQ9NR28.

Polymorphism databases

DMDM18203316.

Proteomic databases

MaxQBQ9NR28.
PaxDbQ9NR28.
PRIDEQ9NR28.

Protocols and materials databases

DNASU56616.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000267169; ENSP00000267169; ENSG00000184047. [Q9NR28-2]
ENST00000353548; ENSP00000320343; ENSG00000184047. [Q9NR28-3]
ENST00000413918; ENSP00000411638; ENSG00000184047. [Q9NR28-3]
ENST00000443649; ENSP00000398495; ENSG00000184047. [Q9NR28-1]
ENST00000464942; ENSP00000442360; ENSG00000184047. [Q9NR28-2]
GeneID56616.
KEGGhsa:56616.
UCSCuc010tab.2. human. [Q9NR28-1]
uc010tad.2. human. [Q9NR28-3]

Organism-specific databases

CTD56616.
GeneCardsGC12M122692.
HGNCHGNC:21528. DIABLO.
HPACAB003857.
CAB016688.
HPA001825.
MIM605219. gene.
614152. phenotype.
neXtProtNX_Q9NR28.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBPA134945044.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42122.
HOGENOMHOG000217916.
HOVERGENHBG051315.
InParanoidQ9NR28.
KOK10522.
OMAQKLEPHS.
OrthoDBEOG7SJD66.
PhylomeDBQ9NR28.
TreeFamTF102048.

Enzyme and pathway databases

ReactomeREACT_578. Apoptosis.

Gene expression databases

ArrayExpressQ9NR28.
BgeeQ9NR28.
CleanExHS_DIABLO.
GenevestigatorQ9NR28.

Family and domain databases

InterProIPR015142. Smac_DIABLO.
IPR009062. Smac_DIABLO-like.
[Graphical view]
PfamPF09057. Smac_DIABLO. 1 hit.
[Graphical view]
SUPFAMSSF46984. SSF46984. 1 hit.
ProtoNetSearch...

Other

ChiTaRSDIABLO. human.
EvolutionaryTraceQ9NR28.
GeneWikiDiablo_homolog.
GenomeRNAi56616.
NextBio62059.
PMAP-CutDBQ9NR28.
PROQ9NR28.
SOURCESearch...

Entry information

Entry nameDBLOH_HUMAN
AccessionPrimary (citable) accession number: Q9NR28
Secondary accession number(s): B2RDQ0 expand/collapse secondary AC list , Q6W3F3, Q96LV0, Q9BT11, Q9HAV6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 139 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

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 12

Human chromosome 12: entries, gene names and cross-references to MIM