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Q96SB8 (SMC6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. 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:
Structural maintenance of chromosomes protein 6

Short name=SMC protein 6
Short name=SMC-6
Short name=hSMC6
Gene names
Name:SMC6
Synonyms:SMC6L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1091 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Ref.10 Ref.11

Subunit structure

Forms a heterodimer with SMC5. Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2. Ref.12

Subcellular location

Nucleus. Chromosome. Chromosometelomere. Note: Associates with chromatin. Localizes to PML nuclear bodies in ALT cell lines. Ref.1 Ref.11 Ref.12

Tissue specificity

Widely expressed. Overexpressed in testis. Ref.1

Domain

The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V-shaped heterodimer By similarity.

Post-translational modification

Sumoylated by NSMCE2/MMS21. Ref.9 Ref.12

Ubiquitinated. Ref.12

Sequence similarities

Belongs to the SMC family. SMC6 subfamily.

Sequence caution

The sequence AAH32675.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAB15236.1 differs from that shown. Reason: Frameshift at position 718.

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96SB8-1)

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: Q96SB8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     80-80: S → SWSAVVRSRLNATSASQVQAILLFQPC
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10911091Structural maintenance of chromosomes protein 6
PRO_0000270956

Regions

Nucleotide binding76 – 838ATP Potential
Region452 – 659208Flexible hinge
Coiled coil226 – 451226 Potential
Coiled coil660 – 914255 Potential
Compositional bias987 – 102236Ala/Asp-rich (DA-box)

Amino acid modifications

Modified residue6691Phosphoserine Ref.13

Natural variations

Alternative sequence801S → SWSAVVRSRLNATSASQVQA ILLFQPC in isoform 2.
VSP_022253
Natural variant2921A → V in a breast cancer sample; somatic mutation. Ref.15
VAR_035875
Natural variant4641R → G. Ref.1 Ref.7
Corresponds to variant rs35195207 [ dbSNP | Ensembl ].
VAR_052441
Natural variant6911A → T. Ref.1 Ref.3 Ref.7
Corresponds to variant rs1065381 [ dbSNP | Ensembl ].
VAR_029826
Natural variant9281K → Q.
Corresponds to variant rs35257753 [ dbSNP | Ensembl ].
VAR_052442
Natural variant10461I → M.
Corresponds to variant rs10221907 [ dbSNP | Ensembl ].
VAR_029827

Experimental info

Sequence conflict4831N → Y in BAB15236. Ref.3
Sequence conflict8681D → N in BAB15236. Ref.3
Sequence conflict10821V → A in BAB15236. Ref.3

Sequences

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

Last modified January 9, 2007. Version 2.
Checksum: 03C6F478E34285E6

FASTA1,091126,326
        10         20         30         40         50         60 
MAKRKEENFS SPKNAKRPRQ EELEDFDKDG DEDECKGTTL TAAEVGIIES IHLKNFMCHS 

        70         80         90        100        110        120 
MLGPFKFGSN VNFVVGNNGS GKSAVLTALI VGLGGRAVAT NRGSSLKGFV KDGQNSADIS 

       130        140        150        160        170        180 
ITLRNRGDDA FKASVYGNSI LIQQHISIDG SRSYKLKSAT GSVVSTRKEE LIAILDHFNI 

       190        200        210        220        230        240 
QVDNPVSVLT QEMSKQFLQS KNEGDKYKFF MKATQLEQMK EDYSYIMETK ERTKEQIHQG 

       250        260        270        280        290        300 
EERLTELKRQ CVEKEERFQS IAGLSTMKTN LESLKHEMAW AVVNEIEKQL NAIRDNIKIG 

       310        320        330        340        350        360 
EDRAARLDRK MEEQQVRLNE AEQKYKDIQD KLEKISEETN ARAPECMALK ADVVAKKRAY 

       370        380        390        400        410        420 
NEAEVLYNRS LNEYKALKKD DEQLCKRIEE LKKSTDQSLE PERLERQKKI SWLKERVKAF 

       430        440        450        460        470        480 
QNQENSVNQE IEQFQQAIEK DKEEHGKIKR EELDVKHALS YNQRQLKELK DSKTDRLKRF 

       490        500        510        520        530        540 
GPNVPALLEA IDDAYRQGHF TYKPVGPLGA CIHLRDPELA LAIESCLKGL LQAYCCHNHA 

       550        560        570        580        590        600 
DERVLQALMK RFYLPGTSRP PIIVSEFRNE IYDVRHRAAY HPDFPTVLTA LEIDNAVVAN 

       610        620        630        640        650        660 
SLIDMRGIET VLLIKNNSVA RAVMQSQKPP KNCREAFTAD GDQVFAGRYY SSENTRPKFL 

       670        680        690        700        710        720 
SRDVDSEISD LENEVENKTA QILNLQQHLS ALEKDIKHNE ELLKRCQLHY KELKMKIRKN 

       730        740        750        760        770        780 
ISEIRELENI EEHQSVDIAT LEDEAQENKS KMKMVEEHME QQKENMEHLK SLKIEAENKY 

       790        800        810        820        830        840 
DAIKFKINQL SELADPLKDE LNLADSEVDN QKRGKRHYEE KQKEHLDTLN KKKRELDMKE 

       850        860        870        880        890        900 
KELEEKMSQA RQICPERIEV EKSASILDKE INRLRQKIQA EHASHGDREE IMRQYQEARE 

       910        920        930        940        950        960 
TYLDLDSKVR TLKKFIKLLG EIMEHRFKTY QQFRRCLTLR CKLYFDNLLS QRAYCGKMNF 

       970        980        990       1000       1010       1020 
DHKNETLSIS VQPGEGNKAA FNDMRALSGG ERSFSTVCFI LSLWSIAESP FRCLDEFDVY 

      1030       1040       1050       1060       1070       1080 
MDMVNRRIAM DLILKMADSQ RFRQFILLTP QSMSSLPSSK LIRILRMSDP ERGQTTLPFR 

      1090 
PVTQEEDDDQ R 

« Hide

Isoform 2 [UniParc].

Checksum: 3CB9F8CA48BC0ECE
Show »

FASTA1,117129,154

References

« Hide 'large scale' references
[1]"Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex."
Taylor E.M., Moghraby J.S., Lees J.H., Smit B., Moens P.B., Lehmann A.R.
Mol. Biol. Cell 12:1583-1594(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH SMC5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION, VARIANTS GLY-464 AND THR-691.
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Amygdala.
[3]"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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 467-1091, VARIANT THR-691.
Tissue: Testis.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Stomach.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-717 (ISOFORM 2), VARIANTS GLY-464 AND THR-691.
Tissue: Ovary.
[8]"Coordination of DNA damage responses via the Smc5/Smc6 complex."
Harvey S.H., Sheedy D.M., Cuddihy A.R., O'Connell M.J.
Mol. Cell. Biol. 24:662-674(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NSMCE1.
[9]"Human MMS21/NSE2 is a SUMO ligase required for DNA repair."
Potts P.R., Yu H.
Mol. Cell. Biol. 25:7021-7032(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NSMCE2, SUMOYLATION.
[10]"Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks."
Potts P.R., Porteus M.H., Yu H.
EMBO J. 25:3377-3388(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins."
Potts P.R., Yu H.
Nat. Struct. Mol. Biol. 14:581-590(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[12]"Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex."
Taylor E.M., Copsey A.C., Hudson J.J., Vidot S., Lehmann A.R.
Mol. Cell. Biol. 28:1197-1206(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH NSMCE1; NSMCE2; EID3; NSMCE4A AND NDNL2, IDENTIFICATION IN THE SMC5-SMC6 COMPLEX, SUMOYLATION, UBIQUITINATION.
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-669, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"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].
[15]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-292.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ310551 mRNA. Translation: CAC39248.1.
AL136544 mRNA. Translation: CAB66479.1.
AK025769 mRNA. Translation: BAB15236.1. Frameshift.
AK292421 mRNA. Translation: BAF85110.1.
AL832979 mRNA. Translation: CAH56327.1.
AC097377 Genomic DNA. Translation: AAX88851.1.
CH471053 Genomic DNA. Translation: EAX00866.1.
CH471053 Genomic DNA. Translation: EAX00867.1.
CH471053 Genomic DNA. Translation: EAX00868.1.
BC032675 mRNA. Translation: AAH32675.1. Sequence problems.
BC039828 mRNA. Translation: AAH39828.1.
RefSeqNP_001135758.1. NM_001142286.1.
NP_078900.1. NM_024624.5.
UniGeneHs.526728.

3D structure databases

ProteinModelPortalQ96SB8.
SMRQ96SB8. Positions 46-198, 964-1052.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122802. 12 interactions.
DIPDIP-34562N.
IntActQ96SB8. 9 interactions.
MINTMINT-2815361.
STRING9606.ENSP00000323439.

PTM databases

PhosphoSiteQ96SB8.

Polymorphism databases

DMDM122070455.

Proteomic databases

PaxDbQ96SB8.
PRIDEQ96SB8.

Protocols and materials databases

DNASU79677.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000351948; ENSP00000323439; ENSG00000163029. [Q96SB8-1]
ENST00000381272; ENSP00000370672; ENSG00000163029. [Q96SB8-2]
ENST00000402989; ENSP00000384539; ENSG00000163029. [Q96SB8-1]
ENST00000448223; ENSP00000404092; ENSG00000163029. [Q96SB8-1]
GeneID79677.
KEGGhsa:79677.
UCSCuc002rcn.3. human. [Q96SB8-1]
uc002rcp.1. human. [Q96SB8-2]

Organism-specific databases

CTD79677.
GeneCardsGC02M017845.
HGNCHGNC:20466. SMC6.
HPACAB037186.
HPA042733.
MIM609387. gene.
neXtProtNX_Q96SB8.
PharmGKBPA134892702.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1196.
HOGENOMHOG000286038.
HOVERGENHBG093964.
InParanoidQ96SB8.
OMAAYRQGHF.
OrthoDBEOG747PJ0.
PhylomeDBQ96SB8.
TreeFamTF314520.

Gene expression databases

ArrayExpressQ96SB8.
BgeeQ96SB8.
CleanExHS_SMC6.
GenevestigatorQ96SB8.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR003395. RecF/RecN/SMC_N.
IPR027132. SMC6.
[Graphical view]
PANTHERPTHR19306:SF2. PTHR19306:SF2. 1 hit.
PfamPF02463. SMC_N. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
ProtoNetSearch...

Other

ChiTaRSSMC6. human.
GeneWikiSMC6.
GenomeRNAi79677.
NextBio68922.
PROQ96SB8.
SOURCESearch...

Entry information

Entry nameSMC6_HUMAN
AccessionPrimary (citable) accession number: Q96SB8
Secondary accession number(s): A8K8Q6 expand/collapse secondary AC list , D6W518, Q05BV4, Q9H0X3, Q9H6M0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: April 16, 2014
This is version 95 of the entry and version 2 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

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 2

Human chromosome 2: entries, gene names and cross-references to MIM